Mutagenetix > Phenotypic Mutations

Phenotypic Mutations

47 mutations affecting 45 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 47 of 47] per page Full List
		~						Verification Probability		Phenotypic Category and and and	⇒
1	Rac2	0.000	Potter	15	78559167-78572783 bp (-)	78570743	Autosomal Recessive (4;19) Autosomal Semidominant (2;11)	0.880	2020-07-29 External Program	FACS B cells - decreased FACS B1a cells in B1 cells - decreased FACS B1b cells in B1 cells - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ T	nonsense		probably null
2	Pparg	1.000	Energy	6	115360951-115490399 bp (+)	115451044	Unknown (4;0) Autosomal Dominant (5;20)	0.273	2019-11-06 Bruce Beutler	Body Weight - decreased Body Weight (DSS) - decreased Body Weight (DSS, z-score) - decreased Body Weight (Z-score) - decreased growth/size	G ⇒ T	missense		probably damaging	1.000
3	Ryr2	1.000	Arruda2	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
4	Pcdh15	0.000	Tortilla	10	73099342-74649737 bp (+)	74379417	Autosomal Recessive (1;6) Autosomal Semidominant (2;9)	0.317	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
5	Grm1	0.151	donald	10	10686059-11082356 bp (-)	10741508	Autosomal Recessive (1;2)	failed initial filter	2019-09-04 Diantha La Vine	behavior/neurological growth/size life span-post-weaning/aging skeleton phenotype	G ⇒ T	nonsense		probably null
6	Smtn	0.426	runtish	11	3517523-3540612 bp (-)	3531326	Autosomal Recessive (1;6)	0.102	2019-09-04 Anne Murray	Body Weight - decreased growth/size	G ⇒ T	missense		possibly damaging	0.895
7	Naip5	0.071	inwood2	13	100211739-100246323 bp (-)	100223014	Autosomal Recessive (1;6)	0.871	2019-09-04 Anne Murray	Nlrc4 inflammasome: low response	G ⇒ T	nonsense		probably null
8	Lyn	0.000	Pacific	4	3678115-3813122 bp (+)	3745330	Autosomal Recessive (1;4) Autosomal Semidominant (4;22)	0.722	2019-09-04 Diantha La Vine	FACS B1 cells - increased FACS CD8+ T cells - decreased FACS macrophages - increased FACS NK cells - decreased FACS T cells - decreased	G ⇒ T	missense		probably damaging	1.000
9	Bcl3	0.000	sunrise	7	19808462-19822770 bp (-)	19811580	Autosomal Dominant (1;5) Autosomal Recessive (7;47), Autosomal Semidominant (3;15)	0.766	2019-09-04 Diantha La Vine	FACS B1 cells - increased FACS B1b cells in B1 cells - decreased FACS CD44+ CD8 MFI - increased FACS CD8+ T cells - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS IgD+ B cell percentage - decreased FACS macrophages - increased ratio of OVA-specific IgE over the total IgE - increased T-dependent humoral response defect- decreased antibody response to rSFV Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased total IgE level - decreased	G ⇒ T	nonsense		probably null
10	Ly96	0.103	pique	1	16688051-16709611 bp (+)	16691716	Autosomal Recessive (4;25)	0.727	2019-09-04 Anne Murray	LPS-induced Necroptosis - decreased Macrophage necroptosis: low NALP3 inflammasome signaling defect Nlrc4 inflammasome: low response NLRP3 inflammasome: low response TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages	G ⇒ T	nonsense		probably null
11	Trp53bp1	0.000	lentil2	2	121193281-121271407 bp (-)	121207887	Autosomal Recessive (7;57) Autosomal Semidominant (2;9)	0.982	2019-09-04 Diantha La Vine	Body Weight - decreased Body Weight (Z-score) - decreased FACS CD44+ CD8 MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS IgD MFI - decreased FACS IgD+ B cell percentage - 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	G ⇒ T	missense		probably damaging	1.000
12	Card11	0.000	unmodulated2	5	140872990-141000582 bp (-)	140883782	Autosomal Dominant (2;10) Autosomal Recessive (10;112), Autosomal Semidominant (5;51)	0.975	2019-09-04 Diantha La Vine	CD8 response - decreased CTL killing - decreased CTL killing dominant epitope - decreased FACS B cells - decreased FACS B:T cells - decreased FACS B1a cells in B1 cells - decreased FACS B1b cells in B1 cells - increased FACS B220 MFI - decreased FACS CD4+ T cells - increased FACS CD8+ T cells - increased FACS effector memory CD8 T cells in CD8 T cells - decreased FACS IgM MFI - increased FACS IgM+ B cells - decreased FACS macrophages - decreased FACS NK1.1+ T cells - increased FACS 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 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ T	splice site		probably null
13	Themis	0.129	cloudies	10	28668360-28883818 bp (+)	28761199	Autosomal Recessive (19;252)	0.941	2019-09-04 Diantha La Vine	CD8 response - decreased CTL killing - decreased CTL killing dominant epitope - decreased 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+ CD4 MFI - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 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 naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS T cells - decreased T-dependent humoral response defect- decreased antibody response to rSFV	G ⇒ T	nonsense		probably null
14	Cd79a	0.108	elementary	7	24897381-24902197 bp (+)	24899262	Autosomal Recessive (2;13) Autosomal Semidominant (1;5)	0.862	2019-09-04 Anne Murray	FACS B1 cells - decreased FACS B1b cells - decreased FACS IgD MFI - decreased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ T	missense		probably damaging	0.999
15	Ppp3cb	0.000	eden_express	14	20499364-20546573 bp (-)	20528195	Autosomal Dominant (1;6) Autosomal Recessive (4;39), Autosomal Semidominant (4;18)	0.954	2019-09-04 Diantha La Vine	FACS B:T cells - increased FACS CD4:CD8 - increased FACS CD4+ T cells - decreased FACS CD4+ T cells in CD3+ T cells - decreased 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 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 macrophages - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS NK cells - increased FACS T cells - decreased IgG1 response to a Cysteine Protease (Papain) - decreased OVA-specific IgE - increased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization Total IgE After 2nd OVA/Alum Challenge (day 7) - increased total IgE level - increased	G ⇒ T	nonsense		probably null
16	Bbs9	0.727	corpulent	9	22475715-22888280 bp (+)	22575196	Unknown (3;0) Autosomal Recessive (16;182)	0.642	2019-09-04 Anne Murray	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased FACS naive CD4 T cells in CD4 T cells - decreased	G ⇒ T	critical splice donor site		probably null
17	Elmo1	0.000	Edinburg	13	20090596-20608353 bp (+)	20290383	Autosomal Recessive (4;26) Autosomal Semidominant (4;27)	0.976	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B1 cells - increased FACS B220 MFI - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ T	nonsense		probably null
18	Fnip1	0.684	hamel2	11	54438199-54518235 bp (+)	54502271	Autosomal Recessive (7;116)	0.706	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - increased FACS B220 MFI - decreased FACS CD4+ T cells - increased FACS CD8+ T cells - increased FACS T cells - increased	G ⇒ T	missense		probably damaging	1.000
19	Postn	0.000	sticklike	3	54361109-54391037 bp (+)	54372106	Autosomal Recessive (3;24)	no linkage result	2019-09-04 Anne Murray		G ⇒ T	missense		probably damaging	1.000
20	Hcn2	0.000	curveball2	10	79716634-79736108 bp (+)	79733773	Autosomal Recessive (17;111)	0.970	2019-09-04 Diantha La Vine	Body Weight - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased FACS B cells - decreased FACS B:T cells - decreased FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS T cells - increased	G ⇒ T	nonsense		probably null
21	Itgb2	0.360	barely	10	77530252-77565708 bp (+)	77548536	Unknown	no linkage result	2019-09-04 Anne Murray		G ⇒ T	splice site		probably benign
22	Elmo1	0.000	Dollie	13	20090596-20608353 bp (+)	20572446	Autosomal Dominant (3;18) Autosomal Semidominant (4;21)	0.869	2019-09-04 Anne Murray	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - increased FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased	G ⇒ T	missense		possibly damaging	0.912
23	Ebf1	0.916	ebby	11	44617317-45008091 bp (+)	44883814	Autosomal Dominant (2;8) Autosomal Recessive (14;134), Autosomal Semidominant (1;9)	0.945	2019-09-04 Anne Murray	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS B220 MFI - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 T cells - increased FACS CD44+ T cells - increased FACS CD8+ T cells - increased FACS CD8+ T cells in CD3+ T cells - increased FACS effector memory CD4 T cells in CD4 T cells - decreased FACS IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS naive CD4 T cells in CD4 T cells - increased FACS T cells - increased	G ⇒ T	missense		probably damaging	1.000
24	Prkdc	0.953	anhimid	16	15637866-15842235 bp (+)	15725461	Autosomal Recessive (20;182)	0.883	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B:T cells - decreased FACS B1 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 - increased FACS CD44+ CD4 T cells - increased FACS CD44+ CD8 MFI - increased FACS CD44+ CD8 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	G ⇒ T	critical splice donor site	1 bp	probably null
25	Prkdc	0.953	screamer	16	15637866-15842235 bp (+)	15831282	Autosomal Recessive (24;276)	0.902	2019-07-17 Diantha La Vine	Body Weight - decreased Body Weight (Z-score) - decreased FACS B cells - decreased FACS B1 cells - increased FACS B1a cells - decreased FACS B1b cells - increased FACS B2 cells - decreased FACS B220 MFI - decreased FACS CD11c+ DCs - increased FACS CD4:CD8 - increased FACS CD4+ T cells - decreased FACS CD44+ CD4 MFI - increased FACS CD44+ CD4 T cells - 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 IgD MFI - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased FACS macrophages - increased FACS neutrophils - increased FACS 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-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	G ⇒ T	nonsense		probably null
26	Lmbr1l	0.000	strawberry	15	98903917-98918231 bp (-)	98909263	Autosomal Dominant (1;4) Autosomal Recessive (24;220)	0.990	2019-05-14 Anne Murray	CD8 response - decreased CTL killing - decreased CTL killing dominant epitope - decreased FACS B cells - increased FACS B:T cells - increased FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B220 MFI - decreased 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 cells - decreased FACS CD44+ T MFI - increased FACS CD8+ T cells - decreased FACS CD8+ T cells in CD3+ 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 IgD MFI - decreased FACS IgD+ B cell percentage - increased FACS IgM MFI - increased FACS IgM+ B cells - increased FACS macrophages - increased FACS naive CD4 T cells in CD4 T cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased FACS neutrophils - increased FACS NK cells - decreased FACS NK1.1+ T cells - decreased FACS T cells - decreased MCMV susceptibility 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 total IgE after 2nd OVA/Alum - decreased Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased	G ⇒ T	nonsense		probably null
27	Tlr9	0.092	cpg7	9	106222598-106226883 bp (+)	106225349	Unknown (2;0)	no linkage results	2019-04-01 Stephen Lyon	immune system TLR signaling defect: TNF production by macrophages	G ⇒ T	missense		probably benign	0.002
28	Lepr	0.000	odd	4	101717404-101815352 bp (+)	101728075	Unknown	no linkage results	2019-03-30 Diantha La Vine	adipose tissue behavior/neurological Body Weight - increased growth/size homeostasis/metabolism	G ⇒ T	splice site	5 bp	probably benign
29	Rag1	0.502	maladaptive	2	101638282-101649501 bp (-)	101645647	Unknown (1;0)	no linkage results	2019-03-21 Diantha La Vine	FACS B cells - decreased FACS CD4+ T cells - decreased FACS CD8+ T cells - decreased hematopoietic system immune system RVFV susceptibility	G ⇒ T	intron		probably benign
30	Gimap1	0.067	vonnegut	6	48739054-48743795 bp (+)	48743098	Autosomal Recessive (6;58)	0.171	2018-12-12 Anne Murray	FACS B220 MFI - decreased FACS CD4:CD8 - increased FACS CD4+ T cells in CD3+ T cells - increased FACS CD8+ T cells in CD3+ T cells - decreased FACS IgD MFI - decreased FACS IgM MFI - increased	G ⇒ T	missense		probably damaging	0.999
31	Cd3e	0.000	tumormouse	9	44998740-45009627 bp (-)	45006150	Unknown (1;0)	no linkage results	2018-11-30 Diantha La Vine	hematopoietic system immune system	G ⇒ T	intron		probably benign
32	Cdh23	0.568	dee_dee	10	60302748-60696490 bp (-)	60308056	Unknown	no linkage result	2018-10-11 Diantha La Vine		G ⇒ T	nonsense		probably null
33	Adamts20	0.169	panda	15	94270163-94465418 bp (-)	94326699	Unknown	no linkage results	2018-10-05 Diantha La Vine	pigmentation skin/coat/nails	G ⇒ T	intron		probably benign
34	Slc45a2	0.107	zuckerkuss	15	11000721-11029233 bp (+)	11025935	Unknown	no linkage results	2018-08-01 Diantha La Vine	pigmentation skin/coat/nails	G ⇒ T	critical splice donor site	1 bp	probably benign
35	Scn8a	0.797	Tremord	15	100869858-101045938 bp (+)	101013504	Unknown	no linkage results	2018-05-22 Anne Murray	behavior/neurological	G ⇒ T	missense		probably damaging	1.000
36	Edar	0.249	achtung2	10	58600789-58675654 bp (-)	58603163	Unknown	no linkage results	2018-04-24 Diantha La Vine	craniofacial limbs/digits/tail phenotype skin/coat/nails	G ⇒ T	missense		probably damaging	1.000
37	Ap3b1	0.572	bullet_gray	13	94358960-94566317 bp (+)	94451087	Unknown (2;0)	no linkage results	2018-01-15 Diantha La Vine	immune system MCMV susceptibility pigmentation skin/coat/nails	G ⇒ T	critical splice donor site	1 bp	probably benign
38	Gimap5	0.000	sphinx	6	48746197-48754210 bp (+)	48752609	Unknown (2;0)	no linkage results	2018-01-05 Eva Marie Y. Moresco	CTL killing - decreased FACS B cells - decreased FACS CD4+ T cells - decreased FACS CD8+ T cells - decreased FACS NK cells - decreased FACS NK1.1+ T cells - decreased hematopoietic system immune system inflammatory bowel disease phenotype lethality-postnatal life span-post-weaning/aging liver/biliary system MCMV susceptibility NK cell response - decreased 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 ⇒ T	missense		probably damaging	1.000
39	Fgf5	0.153	porcupine	5	98254184-98277030 bp (+)	98254746	Unknown	no linkage results	2017-10-13 Anne Murray	skin/coat/nails	G ⇒ T	missense		probably damaging	1.000
40	Muc2	0.093	Schlendrian	7	141690340-141754693 bp (+)	141695682	Unknown (1;0)	no linkage results	2017-09-13 Diantha La Vine	immune system	G ⇒ T	missense		probably damaging	1.000
41	Tnf	0.000	Panr1	17	35199381-35202007 bp (-)	35200204	Unknown (1;0)	no linkage results	2017-04-18 Katherine Timer	immune system TLR signaling defect: TNF production by macrophages	G ⇒ T	missense		probably damaging	1.000
42	Unc13d	0.158	jinx	11	116062095-116077961 bp (-)	116073423	Unknown (1;0)	no linkage results	2016-10-11 Bruce Beutler	DSS: sensitive day 7 hematopoietic system immune system MCMV susceptibility NK cell response - decreased	G ⇒ T	unclassified	57 bp	probably benign
43	Atp7a	0.712	Tigrou	X	106027276-106124926 bp (+)	106088407	Unknown	no linkage results	2016-05-13 Stephen Lyon	growth/size lethality-embryonic/perinatal lethality-postnatal pigmentation skin/coat/nails	G ⇒ T	missense		probably benign	0.041
44	Cd4	0.000	thoth	6	124864692-124888221 bp (-)	124873140	Unknown	no linkage results	2016-05-13 Peter Jurek	FACS CD4+ T cells - decreased immune system	G ⇒ T	splice site	10 bp	probably benign
45	Myo5a	0.957	silver_decerebrate	9	75071015-75223688 bp (+)	75164195	Unknown	no linkage results	2016-05-13 Stephen Lyon	behavior/neurological lethality-postnatal life span-post-weaning/aging nervous system pigmentation skin/coat/nails	G ⇒ T	missense		probably damaging	1.000
46	Scd1	0.952	flake	19	44394451-44407709 bp (-)	44400330	Unknown	no linkage results	2016-05-13 Stephen Lyon	endocrine/exocrine gland immune system skin/coat/nails	G ⇒ T	missense		probably damaging	0.998
47	Ap3d1	0.937	christian	10	80706956-80742264 bp (-)	80730042	Autosomal Semidominant (1;0)	failed initial filter	2016-05-13 Anne Murray	pigmentation skin/coat/nails	G ⇒ T	missense		probably damaging	1.000
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