Mutagenetix > Phenotypic Mutations

Phenotypic Mutations

848 mutations affecting 361 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 850] per page Full List
		~							Phenotypic Category any of and and none of and and	⇒
1	Ikzf1	0.000	11	11685003-11772926 bp (+)	11768961	Autosomal Dominant (19;147)	excellent candidate	2020-05-29 External Program	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS B1a cells - increased FACS B1b cells - increased FACS B1b cells in B1 cells - decreased FACS B2 cells - decreased FACS B220 MFI - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - decreased FACS CD44+ CD4 T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - decreased FACS IgM+ B cells - decreased FACS macrophages - decreased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK cells - decreased FACS NK T cells - increased FACS T cells - increased	C ⇒ T	nonsense		probably null
2	Inpp5d	0.919	1	87620312-87720507 bp (+)	87699675	Autosomal Recessive (77;603) Autosomal Semidominant (3;24)	excellent candidate	2020-05-29 Thomas Gallagher	Body Weight - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - increased FACS B220 MFI - increased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK cells - decreased FACS NK T cells - decreased FACS T cells - decreased	T ⇒ A	missense		probably damaging	0.999
3	Inpp5d	0.919	1	87620312-87720507 bp (+)	87697546	Autosomal Dominant (3;10) Autosomal Semidominant (4;19)	excellent candidate	2020-05-29 Thomas Gallagher	FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B2 cells - decreased FACS CD11c+ DCs - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased	G ⇒ A	critical splice donor site	1 bp	probably null
4	Inpp5d	0.919	1	87620312-87720507 bp (+)	87715142	Autosomal Recessive (1;8)	good candidate (Recruited)	2020-05-29 Thomas Gallagher	TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages	C ⇒ A	missense		probably damaging	0.998
5	Inpp5d	0.919	1	87620312-87720507 bp (+)	87705964	Autosomal Dominant (1;5) Autosomal Recessive (2;15)	excellent candidate	2020-05-29 Thomas Gallagher	FACS NK cells - decreased LPS-induced Necroptosis - decreased Macrophage necroptosis: low TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: TNF production by macrophages	A ⇒ G	missense		probably damaging	1.000
6	Wdr41	0.000	13	94976344-95023314 bp (+)	95015217	Autosomal Recessive (13;82) Autosomal Semidominant (3;16)	excellent candidate	2020-05-12 External Program	DSS: sensitive day 10 DSS: sensitive day 7 FACS B1a cells - increased FACS B220 MFI - increased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK T cells - increased Nlrc4 inflammasome: low response NLRP3 inflammasome: low response TLR signaling defect: hypersensitivity to CpG + IFNg TLR signaling defect: hypersensitivity to LPS TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: hypersensitivity to poly I:C TLR signaling defect: hypersensitivity to R848	T ⇒ A	critical splice donor site		probably null
7	Pik3r1	0.000	13	101680563-101768217 bp (-)	101702776	Unknown (3;0) Autosomal Recessive (3;18) Autosomal Semidominant (1;4)	excellent candidate	2020-02-14 External Program	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS B220 MFI - decreased FACS CD11b+ DCs (gated in CD11c+ cells) - increased FACS CD4+ T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased IgE response to a Cysteine Protease (Papain) - increased OVA-specific IgE - increased	A ⇒ T	nonsense		probably null
8	Smcr8	0.000	11	60777524-60788287 bp (+)	60778032	Autosomal Recessive (6;34) Autosomal Semidominant (1;6)	excellent candidate	2020-02-04 External Program	DSS: sensitive day 10 DSS: sensitive day 7 FACS B1a cells - increased FACS B1a cells in B1 cells - increased FACS B220 MFI - increased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8a+ DCs (gated in CD11c+ cells) - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD8 T cells in CD8 T cells - decreased TLR signaling defect: hypersensitivity to CpG + IFNg TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages	T ⇒ C	missense		probably damaging	1.000
9	Lrba	0.000	3	86224680-86782692 bp (+)	86350304	Autosomal Recessive (2;15)	excellent candidate	2020-02-04 External Program	DSS: sensitive day 10 DSS: sensitive day 7 FACS B1b cells in B1 cells - increased FACS B220 MFI - increased FACS CD11c+ DCs - increased FACS effector memory CD4 T cells in CD4 T cells - increased	C ⇒ T	nonsense		probably null
10	Jak3	0.747	8	71676296-71690575 bp (+)	71685383	Unknown (2;0) Autosomal Recessive (31;312) Autosomal Semidominant (1;4)	excellent candidate	2020-01-15 Eva Marie Y. Moresco	Body Weight (DSS Female) - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS CD11b+ DCs (gated in CD11c+ cells) - decreased FACS CD11c+ DCs - increased FACS CD4:CD8 - increased FACS CD4+ T cells - decreased FACS CD44+ CD4 T cells - decreased FACS CD44+ T cells - decreased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS CD8a+ DCs (gated in CD11c+ cells) - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK cells - decreased FACS NK T cells - decreased FACS T cells - decreased IgE response to a Cysteine Protease (Papain) - decreased IgG1 response to a Cysteine Protease (Papain) - decreased impaired response to dsDNA- type I IFN production by macrophages ratio of OVA-specific IgE over the total IgE - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization total IgE level - decreased	A ⇒ T	critical splice acceptor site		probably null
11	Syk	1.000	13	52583173-52648792 bp (+)	52640790	Unknown (4;0) Autosomal Dominant (1;6)	potential candidate	2020-01-15 Eva Marie Y. Moresco	FACS B cells - increased IgE response to a Cysteine Protease (Papain) - increased	A ⇒ G	missense		probably damaging	1.000
12	Lig4	1.000	8	9969049-9977686 bp (-)	9972955	Autosomal Recessive (16;134) Autosomal Semidominant (2;8)	excellent candidate	2019-12-05 External Program	FACS B cells - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - decreased FACS IgM+ B cells - decreased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK cells - increased FACS T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization	T ⇒ C	missense		probably damaging	1.000
13	Ctsl	1.000	13	64359337-64370890 bp (-)	64366623	Autosomal Recessive (12;261)	good candidate	2019-11-12 Thomas Gallagher	FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS T cells - decreased	T ⇒ A	nonsense		probably null
14	Cd4	0.000	6	124864692-124888221 bp (-)	124867746	Unknown (7;0)	no linkage results	2019-11-12 Bruce Beutler	FACS CD4+ T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV	G ⇒ A	nonsense		probably null
15	Pparg	1.000	6	115360951-115490399 bp (+)	115451044	Unknown (4;0) Autosomal Dominant (5;20)	potential candidate	2019-11-06 Bruce Beutler	Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased Body Weight (Z-score) - decreased	G ⇒ T	missense		probably damaging	1.000
16	Elmo1	0.000	13	20090596-20608353 bp (+)	20373161	Autosomal Dominant (2;10) Autosomal Recessive (1;7) Autosomal Semidominant (1;3)	excellent candidate	2019-10-29 Diantha La Vine	FACS B220 MFI - decreased FACS CD4:CD8 - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS NK cells - decreased	T ⇒ C	missense		probably damaging	1.000
17	Ryr2	1.000	13	11553102-12106945 bp (-)	11879496	Autosomal Recessive (4;16) Autosomal Semidominant (3;23)	no Linkage result	2019-10-29 Anne Murray		G ⇒ T	missense		probably damaging	0.998
18	Klhl6	0.079	16	19946496-19983037 bp (-)	19957218	Autosomal Recessive (8;130) Autosomal Semidominant (6;41)	excellent candidate	2019-10-25 Bruce Beutler	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - increased FACS B220 MFI - decreased FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 MFI - decreased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - decreased FACS IgM+ B cells - decreased FACS T cells - increased T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization total IgE level - increased	G ⇒ A	nonsense		probably null
19	Il2rb	0.110	15	78479256-78495271 bp (-)	78481936	Autosomal Recessive (1;4)	excellent candidate (Recruited)	2019-10-23 Diantha La Vine	total IgE level - increased	T ⇒ A	missense		possibly damaging	0.721
20	Myo15	0.000	11	60469339-60528369 bp (+)	60487425	Autosomal Dominant (1;7) Autosomal Recessive (1;5)	not good candidate	2019-10-23 Anne Murray	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	G ⇒ A	critical splice donor site		probably null
21	Pcdh15	0.000	10	73099342-74649737 bp (+)	74379417	Autosomal Recessive (2;10) Autosomal Semidominant (2;9)	potential candidate	2019-10-23 Diantha La Vine	FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased OVA-specific IgE after 2nd OVA/Alum - increased	G ⇒ T	splice site		probably null
22	Prkcd	0.616	14	30595354-30626210 bp (-)	30610301	Autosomal Recessive (1;5) Autosomal Semidominant (2;9)	excellent candidate	2019-10-23 Diantha La Vine	DSS: sensitive day 10 DSS: sensitive day 7 FACS NK cells - decreased	A ⇒ G	start codon destroyed		probably null	0.988
23	Syk	1.000	13	52583173-52648792 bp (+)	52640733	Unknown (2;0) Autosomal Dominant (2;2) Autosomal Recessive (2;2) Autosomal Semidominant (1;3)	failed initial filter	2019-10-23 Anne Murray	FACS B cells - decreased TLR signaling defect: hypersensitivity to LPS TLR signaling defect: hypersensitivity to MALP2 TLR signaling defect: hypersensitivity to R848 TLR signaling defect: hyposensitivity to R848 TLR signaling defect: TNF production by macrophages	A ⇒ G	missense		probably damaging	1.000
24	Prkce	0.000	17	86167785-86657919 bp (+)	86476851	Autosomal Semidominant (1;5)	not good candidate	2019-10-23 Anne Murray	FACS NK cells - decreased	C ⇒ T	missense		probably damaging	0.997
25	Dst	0.208	1	33908225-34308661 bp (+)	34223795	Autosomal Semidominant (1;1)	failed initial filter	2019-10-23 Anne Murray	FACS B1a cells in B1 cells - increased FACS CD11c+ DCs - increased	T ⇒ A	splice site	9 bp	probably null
26	Zbtb1	0.754	12	76370266-76396950 bp (+)	76385891	Autosomal Recessive (1;6) Autosomal Semidominant (2;10)	potential candidate	2019-10-23 Anne Murray	FACS CD44+ CD8 MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS NK T cells - increased	C ⇒ T	missense		probably damaging	0.965
27	Ptpn6	0.499	6	124720707-124738714 bp (-)	124721789	Autosomal Dominant (1;5) Autosomal Recessive (1;4) Autosomal Semidominant (1;5)	not good candidate (Recruited)	2019-10-23 Anne Murray	FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ T MFI - increased	T ⇒ C	missense		probably benign	0.423
28	Trpc1	0.161	9	95705082-95750375 bp (-)	95726437	Autosomal Recessive (3;14) Autosomal Semidominant (5;29)	excellent candidate	2019-10-23 Diantha La Vine	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased	T ⇒ C	missense		probably damaging	1.000
29	Nlrc4	0.110	17	74426295-74459108 bp (-)	74445630	Autosomal Semidominant (1;3)	failed initial filter	2019-10-23 Peter Jurek	Nlrc4 inflammasome: low response	A ⇒ G	missense		probably damaging	0.999
30	Rel	0.000	11	23736847-23770970 bp (-)	23753215	Autosomal Recessive (4;18) Autosomal Semidominant (5;25)	excellent candidate	2019-10-23 Diantha La Vine	FACS B1 cells - decreased FACS CD4+ T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS naive CD8 T cells in CD8 T cells - decreased FACS T cells - increased ratio of OVA-specific IgE over the total IgE - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization total IgE level - decreased	A ⇒ C	critical splice donor site		probably null
31	Kitl	0.335	10	100015630-100100416 bp (+)	100076906	Unknown (1;0) Autosomal Dominant (3;8)	no Linkage result	2019-10-23 Anne Murray		G ⇒ A	critical splice donor site		probably null
32	Rab38	0.610	7	88430273-88491572 bp (+)	88450541	Unknown	no Linkage result	2019-10-23 Anne Murray		T ⇒ A	missense		probably damaging	0.995
33	Hps3	0.134	3	19995945-20035315 bp (-)	20030796	Autosomal Semidominant (1;1)	no Linkage result	2019-10-23 Anne Murray		A ⇒ C	missense		probably damaging	1.000
34	Ryr2	1.000	13	11553102-12106945 bp (-)	11555448	Autosomal Dominant (1;4)	no Linkage result	2019-10-23 Anne Murray		T ⇒ A	missense		possibly damaging	0.907
35	Cd8a	0.089	6	71373427-71379173 bp (+)	71373728	Autosomal Dominant (1;4) Autosomal Recessive (7;49) Autosomal Semidominant (6;64)	excellent candidate	2019-10-23 Anne Murray	FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD8 MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD8 T cells in CD8 T cells - decreased MCMV susceptibility post-MCMV FACS CD4+ T cells in CD3+ T cells - increased post-MCMV FACS CD44+ CD8 MFI - increased post-MCMV FACS CD8+ T cells - decreased post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased	T ⇒ A	missense		probably damaging	0.989
36	Lyst	0.277	13	13590397-13778803 bp (+)	13708212	Autosomal Recessive (6;68)	excellent candidate	2019-10-14 Diantha La Vine	FACS CD8a+ DCs (gated in CD11c+ cells) - increased FACS pDCs - increased LPS-induced Necroptosis - decreased Macrophage necroptosis: low MCMV susceptibility	T ⇒ A	critical splice donor site	2 bp	probably null
37	Prkcb	0.000	7	122288751-122634402 bp (+)	122424977	Autosomal Recessive (2;9) Autosomal Semidominant (1;4)	excellent candidate	2019-10-14 Diantha La Vine	FACS CD8+ T cells - increased FACS T cells - increased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	A ⇒ T	missense		probably damaging	1.000
38	Gys2	0.347	6	142422613-142473109 bp (-)	142456333	Autosomal Recessive (2;13)	potential candidate	2019-09-24 External Program	30 min GTT hyperoglycemic (female)	T ⇒ C	missense		probably benign	0.001
39	Bcl10	0.000	3	145922804-145934356 bp (+)	145930587	Autosomal Dominant (1;4) Autosomal Recessive (14;151) Autosomal Semidominant (2;11)	excellent candidate	2019-09-11 External Program	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS B1a cells in B1 cells - decreased FACS B1b cells - decreased FACS B1b cells in B1 cells - decreased FACS B2 cells - increased FACS CD4+ T cells - increased FACS CD8+ T cells - increased FACS central memory CD4 T cells in CD4 T cells - decreased FACS central memory CD8 T cells in CD8 T cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS macrophages - decreased FACS neutrophils - decreased FACS NK cells - decreased FACS T cells - increased IgG1 response to a Cysteine Protease (Papain) - decreased NK cell response - decreased NK killing - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	A ⇒ G	missense		probably damaging	0.999
40	Ptpn6	0.499	6	124720707-124738714 bp (-)	124732435	Autosomal Recessive (18;131)	excellent candidate	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B1 cells - increased FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased	T ⇒ C	missense		probably damaging	1.000
41	Zeb1	0.927	18	5591860-5775467 bp (+)	5772455	Autosomal Recessive (1;3)	failed initial filter	2019-09-04 Anne Murray	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	T ⇒ A	missense		probably damaging	0.998
42	Slc9a8	0.000	2	167421712-167477000 bp (+)	167451296	Unknown	potential candidate	2019-09-04 External Program	DSS: sensitive day 7	T ⇒ A	missense		probably damaging	1.000
43	Hps5	0.144	7	46760466-46796064 bp (-)	46783469	Autosomal Dominant (2;19) Autosomal Recessive (2;6)	not good candidate	2019-09-04 Diantha La Vine	dsDNA induced type I IFN production - increased FACS CD11c+ DCs - decreased FACS IgM MFI - decreased impaired response to dsDNA- type I IFN production by macrophages	A ⇒ G	critical splice donor site	2 bp	probably null
44	Jak3	0.747	8	71676296-71690575 bp (+)	71683377	Autosomal Recessive (28;212) Autosomal Semidominant (3;15)	excellent candidate	2019-09-04 Diantha La Vine	125-03 Response - decreased FACS B cells - decreased FACS CD4:CD8 - increased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - decreased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS NK cells - decreased FACS T cells - decreased MCMV susceptibility OVA-specific IgE - increased post-MCMV FACS B cells - decreased post-MCMV FACS CD11c+ DCs - decreased post-MCMV FACS CD4:CD8 - increased post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased post-MCMV FACS IgD+ B cell percentage - decreased post-MCMV FACS IgM+ B cells - decreased post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization total IgE level - increased	A ⇒ G	missense		probably damaging	1.000
45	Tnfsf13b	0.093	8	10006467-10039072 bp (+)	10031661	Autosomal Recessive (6;46) Autosomal Semidominant (8;93)	excellent candidate	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS CD11c+ DCs - increased FACS CD8+ T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS T cells - increased T-dependent humoral response defect- decreased antibody response to rSFV T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ A	splice site	5 bp	probably null
46	Jak3	0.747	8	71676296-71690575 bp (+)	71686976	Autosomal Recessive (2;10) Autosomal Semidominant (1;5)	excellent candidate	2019-09-04 Diantha La Vine	cellular phenotype FACS B:T cells - increased FACS B1b cells - decreased FACS CD8+ T cells - decreased	C ⇒ T	splice site	4 bp	probably benign
47	Insr	0.849	8	3122061-3279617 bp (-)	3161770	Autosomal Recessive (2;10) Autosomal Semidominant (1;2)	potential candidate	2019-09-04 Diantha La Vine	DSS: sensitive day 10 DSS: sensitive day 7	A ⇒ G	missense		probably damaging	1.000
48	Rac2	0.000	15	78559167-78572783 bp (-)	78564968	Autosomal Recessive (1;6)	excellent candidate	2019-09-04 Anne Murray	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	T ⇒ C	missense		probably damaging	1.000
49	Tshr	0.273	12	91384563-91549808 bp (+)	91538226	Unknown (1;0) Autosomal Recessive (2;12)	excellent candidate	2019-09-04 Bruce Beutler	125-03 Response - increased Body Weight (Z-score) - decreased endocrine/exocrine gland	C ⇒ A	nonsense		probably null
50	Arnt2	1.000	7	84246278-84410176 bp (-)	84347530	Autosomal Dominant (2;2) Autosomal Semidominant (3;17)	excellent candidate	2019-09-04 External Program	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased DSS: sensitive day 10 NK cell response - decreased NK killing - decreased	G ⇒ A	missense		probably damaging	1.000
51	Tlr4	0.000	4	66827584-66930284 bp (+)	66833880	Autosomal Semidominant (3;15)	excellent candidate	2019-09-04 Katherine Timer	FACS B220 MFI - decreased NLRP3 inflammasome: low response TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages	T ⇒ A	splice site	14 bp	probably null
52	Nlrp3	0.077	11	59541568-59566956 bp (+)	59565850	Autosomal Semidominant (1;3)	failed initial filter	2019-09-04 Diantha La Vine	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	A ⇒ G	missense		probably benign	0.017
53	Rorb	0.000	19	18930605-19111196 bp (-)	18955053	Autosomal Recessive (3;12)	no Linkage result	2019-09-04 Anne Murray		A ⇒ G	missense		probably damaging	1.000
54	Scn8a	0.799	15	100869858-101045938 bp (+)	101035646	Unknown (1;0) Autosomal Recessive (1;5)	potential candidate	2019-09-04 Anne Murray	Body Weight - decreased	A ⇒ G	missense		probably damaging	1.000
55	Adgrf5	0.000	17	43360451-43459557 bp (+)	43450983	Autosomal Recessive (1;5)	no Linkage result	2019-09-04 Diantha La Vine		A ⇒ T	missense		probably damaging	0.957
56	Apbb2	0.000	5	66298703-66618784 bp (-)	66400255	Autosomal Recessive (1;3)	failed initial filter	2019-09-04 External Program	30 min GTT hyperglycemic (male)	T ⇒ A	missense		probably damaging	0.996
57	Sell	0.000	1	164061982-164084181 bp (+)	164066201	Autosomal Dominant (1;4) Autosomal Recessive (7;45)	excellent candidate	2019-09-04 Peter Jurek	FACS central memory CD4 T cells in CD4 T cells - decreased FACS central memory CD8 T cells in CD8 T cells - decreased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV	T ⇒ A	unclassified	9 bp	probably null
58	Slc26a4	0.000	12	31519827-31559969 bp (-)	31525568	Autosomal Recessive (1;2)	no Linkage result	2019-09-04 Emre Turer		A ⇒ T	nonsense		probably null
59	Pkd2	1.000	5	104459450-104505819 bp (+)	104486806	Unknown (1;0)	no Linkage result	2019-09-04 Anne Murray		T ⇒ A	missense		probably damaging	1.000
60	Sppl2a	0.107	2	126890391-126933235 bp (-)	126923594	Autosomal Recessive (1;5)	excellent candidate	2019-09-04 Katherine Timer	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	A ⇒ G	missense		probably benign	0.002
61	Nr3c2	1.000	8	76899442-77245012 bp (+)	76908668	Autosomal Recessive (1;5)	not good candidate	2019-09-04 Bruce Beutler	Body Weight - decreased	A ⇒ G	unclassified		probably null
62	Dst	0.208	1	33908225-34308661 bp (+)	34165155	Autosomal Dominant (1;1) Autosomal Recessive (5;19)	potential candidate	2019-09-04 Anne Murray	Body Weight - decreased DSS: sensitive day 7 FACS B1a cells in B1 cells - increased FACS CD11c+ DCs - increased TLR signaling defect: hypersensitivity to CpG + IFNg	T ⇒ C	critical splice donor site	2 bp	probably null
63	Nlrp3	0.077	11	59541568-59566956 bp (+)	59549531	Autosomal Dominant (1;9) Autosomal Semidominant (1;6)	excellent candidate	2019-09-04 Diantha La Vine	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	A ⇒ G	missense		probably benign	0.190
64	Tyr	0.194	7	87424771-87493512 bp (-)	87492706	Autosomal Recessive (1;3)	no Linkage result	2019-09-04 Anne Murray		C ⇒ A	missense		probably damaging	1.000
65	Grm1	0.187	10	10686059-11082356 bp (-)	10741508	Autosomal Recessive (1;2)	no Linkage result	2019-09-04 Diantha La Vine		G ⇒ T	nonsense		probably null
66	Adamts20	0.203	15	94270163-94465418 bp (-)	94345990	Autosomal Recessive (1;1)	no Linkage result	2019-09-04 Diantha La Vine		A ⇒ T	missense		probably damaging	1.000
67	Lyst	0.277	13	13590397-13778803 bp (+)	13647083	Autosomal Recessive (1;1)	no Linkage result	2019-09-04 Diantha La Vine		T ⇒ A	nonsense		probably null
68	Entpd5	0.000	12	84373857-84409029 bp (-)	84382295	Autosomal Recessive (9;42) Autosomal Semidominant (2;9)	excellent candidate	2019-09-04 External Program	125-03 Response - increased Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased Body Weight (Female) - decreased Body Weight (Z-score) - decreased DSS: sensitive day 10 DSS: sensitive day 7 FACS B1 cells - increased FACS CD44+ CD8 MFI - increased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased TLR signaling defect: hypersensitivity to PAM3CSK4	G ⇒ A	nonsense		probably null
69	Syt2	0.129	1	134646677-134762593 bp (+)	134747620	Autosomal Recessive (1;3) Autosomal Semidominant (1;1)	failed initial filter	2019-09-04 Anne Murray	Body Weight - decreased	C ⇒ A	missense		probably damaging	0.998
70	Ciita	0.135	16	10480059-10528418 bp (+)	10513288	Autosomal Recessive (9;49) Autosomal Semidominant (1;4)	excellent candidate	2019-09-04 Anne Murray	FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD8+ T cells in CD3+ T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased post-MCMV FACS CD4:CD8 - decreased post-MCMV FACS CD8+ T cells in CD3+ T cells - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages	G ⇒ A	critical splice donor site	1 bp	probably null
71	Lyn	0.000	4	3678115-3813122 bp (+)	3789908	Autosomal Dominant (5;26) Autosomal Recessive (4;18) Autosomal Semidominant (5;37)	excellent candidate	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B1a cells in B1 cells - increased FACS B220 MFI - decreased FACS CD4+ T cells - increased FACS CD8+ T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS neutrophils - decreased FACS T cells - increased MCMV susceptibility post-MCMV FACS B:T cells - decreased post-MCMV FACS IgM+ B cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization T-dependent humoral response defect- decreased antibody response to rSFV	T ⇒ A	nonsense		probably null
72	Myo6	0.000	9	80165031-80311729 bp (+)	80288217	Autosomal Recessive (4;15)	potential candidate	2019-09-04 Anne Murray	dsDNA induced type I IFN production - increased impaired response to dsDNA- type I IFN production by macrophages	G ⇒ A	critical splice donor site	1 bp	probably null
73	Rorc	0.823	3	94372794-94398276 bp (+)	94397302	Autosomal Recessive (1;8)	excellent candidate	2019-09-04 Diantha La Vine	T-dependent humoral response defect- decreased antibody response to rSFV	T ⇒ A	nonsense		probably null
74	Socs2	0.142	10	95385362-95417180 bp (-)	95413081	Autosomal Recessive (2;10)	excellent candidate	2019-09-04 Bruce Beutler	Body Weight - increased Body Weight (DSS Male) - increased	C ⇒ A	nonsense		probably null
75	Prkcb	0.000	7	122288751-122634402 bp (+)	122582449	Autosomal Semidominant (4;31)	excellent candidate	2019-09-04 Diantha La Vine	FACS B1 cells - decreased post-MCMV FACS B1a cells in B1 cells - decreased post-MCMV FACS B1b cells in B1 cells - increased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	T ⇒ A	missense		probably damaging	1.000
76	Alms1	0.000	6	85587531-85702753 bp (+)	85621275	Autosomal Recessive (2;10) Autosomal Semidominant (1;4)	excellent candidate	2019-09-04 External Program	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased	C ⇒ T	nonsense		probably null
77	Lepr	0.000	4	101717404-101815352 bp (+)	101745645	Autosomal Recessive (10;147)	excellent candidate	2019-09-04 Diantha La Vine	adipose tissue Body Weight - increased Body Weight (DSS Female) - increased Body Weight (DSS Male) - increased Body Weight (DSS) - increased Body Weight (DSS, z-score) - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased	T ⇒ A	missense		possibly damaging	0.938
78	Tub	0.000	7	108950338-109034460 bp (+)	109020954	Autosomal Recessive (7;36)	excellent candidate	2019-09-04 Bruce Beutler	adipose tissue Body Weight - increased Body Weight (DSS Male) - increased Body Weight (DSS) - increased Body Weight (DSS, z-score) - increased Body Weight (Female) - increased Body Weight (Z-score) - increased	C ⇒ T	nonsense		probably null
79	Nfkb2	0.635	19	46304737-46312090 bp (+)	46311626	Unknown (1;0) Autosomal Recessive (1;4)	not good candidate	2019-09-04 Diantha La Vine	FACS B1a cells - increased	A ⇒ T	missense		possibly damaging	0.956
80	Mapk3	0.000	7	126759601-126765819 bp (+)	126763512	Autosomal Recessive (2;10)	excellent candidate	2019-09-04 Peter Jurek	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	A ⇒ T	nonsense		probably null
81	Nlrp3	0.077	11	59541568-59566956 bp (+)	59548476	Autosomal Semidominant (3;15)	excellent candidate	2019-09-04 Diantha La Vine	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response T-dependent humoral response defect- increased antibody response to rSFV	T ⇒ A	missense		probably damaging	0.991
82	Gck	1.000	11	5900820-5950081 bp (-)	5902165	Autosomal Recessive (2;8) Autosomal Semidominant (1;4)	failed initial filter	2019-09-04 Katherine Timer	30 min GTT hyperoglycemic (female)	A ⇒ T	missense		probably damaging	1.000
83	Tnfsf13b	0.093	8	10006467-10039072 bp (+)	10031534	Autosomal Recessive (1;1) Autosomal Semidominant (1;5)	excellent candidate	2019-09-04 Diantha La Vine	FACS B:T cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV	T ⇒ C	missense		probably damaging	1.000
84	Irf7	0.000	7	141262706-141266481 bp (-)	141264022	Autosomal Recessive (1;4)	not good candidate	2019-09-04 Anne Murray	Nlrc4 inflammasome: high response	T ⇒ C	missense		probably damaging	0.992
85	Lyst	0.277	13	13590397-13778803 bp (+)	13757422	Autosomal Semidominant (2;11)	potential candidate	2019-09-04 Diantha La Vine	125-03 Response - decreased phagocytosis in PECs - increased	T ⇒ C	missense		probably benign	0.004
86	Lck	0.000	4	129548344-129573641 bp (-)	129558127	Autosomal Recessive (11;60) Autosomal Semidominant (2;8)	excellent candidate	2019-09-04 Katherine Timer	DSS: resistant day 10 DSS: sensitive day 7 FACS B:T cells - increased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased post-MCMV FACS CD4:CD8 - decreased post-MCMV FACS CD4+ T cells - decreased post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased post-MCMV FACS CD8+ T cells in CD3+ T cells - increased post-MCMV FACS T cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV	C ⇒ T	missense		probably damaging	1.000
87	Diaph1	0.000	18	37843601-37935476 bp (-)	37896093	Unknown (13;0) Autosomal Dominant (1;5) Autosomal Semidominant (8;34)	excellent candidate	2019-09-04 Diantha La Vine	FACS B:T cells - increased FACS B1a cells in B1 cells - decreased FACS CD4+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS central memory CD4 T cells in CD4 T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS T cells - decreased MCMV susceptibility OVA-specific IgE - decreased post-MCMV FACS CD4:CD8 - increased post-MCMV FACS CD4+ T cells in CD3+ T cells - increased post-MCMV FACS CD44+ CD4 MFI - decreased post-MCMV FACS CD44+ CD4 MFI - increased post-MCMV FACS CD44+ CD8 MFI - increased post-MCMV FACS CD44+ T MFI - increased post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased	A ⇒ G	critical splice donor site	2 bp	probably null
88	Nos3	0.000	5	24364810-24384474 bp (+)	24372704	Autosomal Recessive (2;8)	excellent candidate	2019-09-04 Diantha La Vine	DSS: sensitive day 7 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization	C ⇒ T	missense		probably damaging	1.000
89	Fcer2a	0.000	8	3681737-3694175 bp (-)	3688796	Autosomal Recessive (4;25)	potential candidate	2019-09-04 Bruce Beutler	FACS CD11c+ DCs - increased	A ⇒ G	critical splice donor site	2 bp	probably null
90	Col3a1	0.841	1	45311538-45349706 bp (+)	45327866	Autosomal Recessive (2;7)	excellent candidate	2019-09-04 Anne Murray	DSS: sensitive day 10 DSS: sensitive day 7	A ⇒ T	splice site	3 bp	probably null
91	Grm7	0.000	6	110645581-111567230 bp (+)	111495791	Autosomal Recessive (1;2)	no Linkage result	2019-09-04 Anne Murray		A ⇒ T	nonsense		probably null
92	Adamts20	0.203	15	94270163-94465418 bp (-)	94341087	Unknown (1;0)	no Linkage result	2019-09-04 Diantha La Vine		C ⇒ T	missense		probably damaging	0.999
93	Cd22	0.000	7	30865402-30880342 bp (-)	30869509	Unknown (1;0) Autosomal Dominant (4;7) Autosomal Recessive (4;14) Autosomal Semidominant (6;17)	excellent candidate	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B1a cells - increased FACS B1a cells in B1 cells - increased FACS B1b cells in B1 cells - decreased FACS B2 cells - decreased FACS central memory CD4 T cells in CD4 T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased post-MCMV FACS B cells - decreased post-MCMV FACS B:T cells - decreased post-MCMV FACS B1a cells - increased post-MCMV FACS B1a cells in B1 cells - decreased post-MCMV FACS B2 cells - decreased post-MCMV FACS IgD+ B cell percentage - decreased post-MCMV FACS IgM+ B cells - decreased	C ⇒ A	critical splice donor site	1 bp	probably null
94	Grid2	0.000	6	63255876-64704323 bp (+)	64429694	Autosomal Recessive (2;5)	potential candidate	2019-09-04 Anne Murray	MCMV susceptibility	T ⇒ A	nonsense		probably null
95	Mc4r	0.108	18	66857715-66860472 bp (-)	66859847	Autosomal Recessive (5;32)	excellent candidate	2019-09-04 Diantha La Vine	adipose tissue Body Weight - increased Body Weight (DSS) - increased Body Weight (DSS, z-score) - increased Body Weight (Z-score) - increased	A ⇒ T	missense		probably damaging	0.999
96	Hr	0.000	14	70552212-70573548 bp (+)	70571448	Unknown	failed initial filter	2019-09-04 Diantha La Vine	Body Weight (DSS Male) - decreased DSS: sensitive day 10 DSS: sensitive day 7 FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells - increased FACS B1b cells in B1 cells - increased FACS B2 cells - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - decreased FACS CD44+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS IgD+ B cell percentage - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS T cells - decreased	G ⇒ A	missense		probably damaging	1.000
97	Gk5	0.000	9	96119362-96184608 bp (+)	96150797	Autosomal Recessive (6;25)	excellent candidate	2019-09-04 Anne Murray	FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD44+ T MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased	G ⇒ A	critical splice donor site	1 bp	probably null
98	Lyst	0.277	13	13590397-13778803 bp (+)	13740536	Autosomal Recessive (1;5)	potential candidate	2019-09-04 Diantha La Vine	MCMV susceptibility	T ⇒ C	missense		possibly damaging	0.908
99	Ksr2	0.106	5	117414000-117775003 bp (+)	117671449	Unknown (1;0) Autosomal Recessive (2;9)	potential candidate	2019-09-04 Anne Murray	impaired response to dsDNA- type I IFN production by macrophages	T ⇒ A	missense		probably damaging	0.994
100	Rhbdf2	0.000	11	116598165-116627019 bp (-)	116600191	Autosomal Semidominant (7;57)	excellent candidate	2019-09-04 Katherine Timer	125-03 Response - decreased TLR signaling defect: hyposensitivity to LPS TLR signaling defect: hyposensitivity to PAM3CSK4 TLR signaling defect: hyposensitivity to R848 TLR signaling defect: TNF production by macrophages	A ⇒ T	missense		possibly damaging	0.936
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