Mutagenetix > Phenotypic Mutations

Phenotypic Mutations

66 mutations affecting 58 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 66 of 66] per page Full List
		~						Verification Probability		Phenotypic Category and and and	⇒
1	Pi4ka	1.000	Pia	16	17280351-17406314 bp (-)	17281044	Autosomal Recessive (3;18) Autosomal Semidominant (3;12)	0.381	2022-04-12 External Program	FACS CD44+ CD4 T cells - increased FACS CD44+ T cells - increased FACS central 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 MTT Value of PECs - decreased	C ⇒ T	missense		probably damaging	0.997
2	Lrba	0.000	oscar	3	86224680-86782692 bp (+)	86350304	Autosomal Recessive (2;15)	0.904	2022-04-12 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
3	Ikzf1	0.000	Herrscher	11	11685003-11772926 bp (+)	11768961	Autosomal Dominant (20;149)	0.977	2022-04-12 External Program	Body Weight (BP, z-score, male) - decreased 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 neutrophils - increased FACS NK cells - decreased FACS NK1.1+ T cells - increased FACS T cells - increased	C ⇒ T	nonsense		probably null
4	Alms1	0.000	ares	6	85587531-85702753 bp (+)	85621275	Autosomal Recessive (2;10) Autosomal Semidominant (2;8)	0.973	2022-04-12 External Program	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased growth/size	C ⇒ T	nonsense		probably null
5	Alms1	0.000	fatty	6	85587531-85702753 bp (+)	85627934	Autosomal Dominant (1;1) Autosomal Recessive (19;153), Autosomal Semidominant (1;1)	0.978	2021-11-17 Diantha La Vine	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased growth/size NK cell response - decreased NK killing - decreased	C ⇒ T	nonsense		probably null
6	Alms1	0.000	ares2	6	85587531-85702753 bp (+)	85677990	Autosomal Recessive (7;58) Autosomal Semidominant (2;9)	0.431	2021-11-16 Diantha La Vine	Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased Body Weight (Z-score, female) - increased Body Weight (Z-score, male) - increased resistance to B10-F16 melanoma - decreased	C ⇒ T	nonsense		probably null
7	Adamts20	0.144	nidoking	15	94270163-94465418 bp (-)	94403445	Autosomal Recessive (1;12)	0.580	2021-10-21 Diantha La Vine	pigmentation skin/coat/nails	C ⇒ T	missense		probably damaging	0.999
8	Adamts20	0.144	buckeye	15	94270163-94465418 bp (-)	94341087	Unknown (1;0)	failed initial filter	2021-10-19 Diantha La Vine	pigmentation skin/coat/nails	C ⇒ T	missense		probably damaging	0.999
9	Prkce	0.000	Pinnacles	17	86167785-86657919 bp (+)	86476851	Autosomal Semidominant (1;5)	0.033	2019-10-23 Anne Murray	FACS NK cells - decreased	C ⇒ T	missense		probably damaging	0.997
10	Zbtb1	0.767	Old_friend	12	76370266-76396950 bp (+)	76385891	Autosomal Recessive (1;6) Autosomal Semidominant (2;10)	0.090	2019-10-23 Anne Murray	FACS CD44+ CD8 MFI - increased FACS central memory CD8 T cells in CD8 T cells - increased FACS NK1.1+ T cells - increased	C ⇒ T	missense		probably damaging	0.965
11	Jak3	0.753	citron	8	71676296-71690575 bp (+)	71686976	Autosomal Recessive (2;10) Autosomal Semidominant (1;5)	0.781	2019-09-04 Diantha La Vine	cellular phenotype FACS B:T cells - increased FACS B1b cells - decreased FACS CD8+ T cells - decreased hematopoietic system	C ⇒ T	splice site	4 bp	probably benign
12	Tub	0.000	troy	7	108950338-109034460 bp (+)	109020954	Autosomal Recessive (7;35)	0.815	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 (DSS, z-score, male) - increased Body Weight (Z-score) - increased growth/size	C ⇒ T	nonsense		probably null
13	Lck	0.000	lockdown	4	129548344-129573641 bp (-)	129558127	Autosomal Recessive (12;64) Autosomal Semidominant (2;8)	0.945	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 FACS central memory CD8 T cells in CD8 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
14	Nos3	0.000	paul	5	24364810-24384474 bp (+)	24372704	Autosomal Recessive (2;8)	0.315	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
15	Rims4	0.182	diminutive	2	163859751-163918683 bp (-)	163864865	Autosomal Recessive (4;25)	0.794	2019-09-04 Anne Murray	Body Weight - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased Body Weight (Z-score, male) - decreased growth/size	C ⇒ T	critical splice donor site		probably null
16	Cd22	0.000	gansu	7	30865402-30880342 bp (-)	30870105	Autosomal Recessive (7;42)	0.930	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 B2 cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased	C ⇒ T	missense		probably damaging	1.000
17	Tg	0.115	ito	15	66670753-66850721 bp (+)	66766162	Unknown (1;0) Autosomal Recessive (7;39)	0.963	2019-09-04 Diantha La Vine	Body Weight - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased Body Weight (Z-score, female) - decreased OVA-specific IgE - increased total IgE level - increased	C ⇒ T	nonsense		probably null
18	Yap1	1.000	Puddel_hunde	9	7931999-8004596 bp (-)	8004284	Autosomal Semidominant (1;5)	0.395	2019-09-04 Anne Murray	DSS: sensitive day 10	C ⇒ T	missense		probably damaging	1.000
19	Nlrp3	0.104	Park7	11	59541568-59566956 bp (+)	59548010	Autosomal Semidominant (2;12)	0.901	2019-09-04 Diantha La Vine	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response OVA-specific IgE - increased	C ⇒ T	nonsense		probably null
20	Col6a2	0.000	piddling	10	76595762-76623630 bp (-)	76608106	Autosomal Recessive (4;24)	0.320	2019-09-04 Anne Murray	Body Weight - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased Body Weight (Z-score, male) - decreased growth/size	C ⇒ T	critical splice donor site		probably null
21	Pcdh15	0.000	sphere	10	73099342-74649737 bp (+)	74624284	Autosomal Recessive (1;2)	failed initial filter	2019-09-04 Diantha La Vine	behavior/neurological hearing/vestibular/ear	C ⇒ T	missense		probably damaging	1.000
22	Sppl2a	0.074	abra2	2	126890391-126933235 bp (-)	126920313	Autosomal Recessive (5;44)	0.941	2019-09-04 Anne Murray	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 Challenge (day 7) - decreased total IgE level - decreased	C ⇒ T	splice site		probably null
23	Pnp	0.103	Porch	14	50931082-50965237 bp (+)	50950923	Autosomal Recessive (1;5)	0.510	2019-09-04 Anne Murray	T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization	C ⇒ T	nonsense		probably null
24	Mpz	0.078	taz	1	171150711-171161130 bp (+)	171158810	Autosomal Recessive (1;4)	0.634	2019-09-04 Anne Murray	behavior/neurological	C ⇒ T	missense		probably damaging	1.000
25	Ctss	0.160	clip	3	95526786-95556403 bp (+)	95545384	Autosomal Recessive (2;11)	0.251	2019-09-04 Anne Murray	T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: TNF production by macrophages	C ⇒ T	nonsense		probably null
26	Ryr2	1.000	Arruda	13	11553102-12106945 bp (-)	11643895	Unknown	no linkage result	2019-09-04 Anne Murray		C ⇒ T	missense		probably damaging	0.999
27	Pik3r1	0.000	Rocket	13	101680563-101768217 bp (-)	101689444	Autosomal Dominant (3;19)	0.641	2019-09-04 Diantha La Vine	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	C ⇒ T	missense		probably damaging	1.000
28	Smcr8	0.000	patriot3	11	60777524-60788287 bp (+)	60779870	Autosomal Recessive (4;20)	0.956	2019-09-04 Anne Murray	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	C ⇒ T	nonsense		probably null
29	Trpc1	0.139	luxus	9	95705082-95750375 bp (-)	95721132	Autosomal Recessive (7;27) Autosomal Semidominant (1;4)	0.504	2019-09-04 Diantha La Vine	Body Weight - increased Body Weight (DSS Male) - increased Body Weight (DSS) - increased Body Weight (DSS, z-score, male) - increased Body Weight (Male) - increased Body Weight (Z-score, male) - increased FACS B cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased	C ⇒ T	critical splice donor site		probably null
30	Tbx21	0.227	plateau	11	97098071-97115331 bp (-)	97101478	Autosomal Dominant (1;6) Autosomal Recessive (1;6)	0.267	2019-09-04 Anne Murray	FACS CD8+ T cells in CD3+ T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased	C ⇒ T	critical splice donor site		probably null
31	Tnfrsf13c	0.193	Tannin	15	82221743-82224369 bp (-)	82224207	Autosomal Dominant (2;8)	0.510	2019-09-04 Anne Murray	FACS B cells - decreased FACS B:T cells - decreased	C ⇒ T	missense		probably damaging	0.997
32	Gk5	0.000	homer	9	96119362-96184608 bp (+)	96140656	Autosomal Recessive (10;65) Autosomal Semidominant (2;8)	0.961	2019-09-04 Anne Murray	Body Weight (BP, z-score, female) - 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 central memory CD8 T cells in CD8 T cells - increased skin/coat/nails	C ⇒ T	nonsense		probably null
33	Gk5	0.000	sean	9	96119362-96184608 bp (+)	96176237	Autosomal Recessive (9;82) Autosomal Semidominant (2;8)	0.973	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 skin/coat/nails	C ⇒ T	nonsense		probably null
34	Ptprc	0.000	fuchsia	1	138062861-138175708 bp (-)	138101041	Autosomal Recessive (17;235) Autosomal Semidominant (1;17)	0.975	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 - 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 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	C ⇒ T	critical splice donor site		probably null
35	Ptpn6	0.516	Vermeil	6	124720707-124738714 bp (-)	124732950	Autosomal Recessive (3;15) Autosomal Semidominant (6;34)	0.645	2019-09-04 Diantha La Vine	FACS B cells - decreased FACS B1 cells - increased 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 IgM MFI - decreased FACS IgM+ B cells - decreased FACS naive CD8 T cells in CD8 T cells - decreased	C ⇒ T	missense		probably benign	0.103
36	Rasgrp1	0.217	venutian	2	117279993-117343001 bp (-)	117284929	Autosomal Recessive (18;323) Autosomal Semidominant (1;11)	0.978	2019-09-04 Diantha La Vine	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+ CD4 T cells - increased FACS CD44+ CD8 MFI - 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 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	C ⇒ T	nonsense		probably null
37	Nfkb1	0.000	Murgatroyd	3	135584655-135691547 bp (-)	135626710	Autosomal Dominant (1;11)	0.888	2019-09-04 Diantha La Vine	FACS B1 cells - decreased	C ⇒ T	missense		possibly damaging	0.720
38	Atp2b2	0.884	johan	6	113743831-114042613 bp (-)	113773388	Autosomal Recessive (1;4)	0.293	2019-09-04 Anne Murray	Body Weight - decreased	C ⇒ T	missense		probably damaging	1.000
39	Klhl6	0.076	heights	16	19946496-19983037 bp (-)	19957028	Autosomal Recessive (3;13) Autosomal Semidominant (1;5)	0.567	2019-09-04 Diantha La Vine	FACS CD4+ T cells - increased FACS IgD MFI - increased FACS IgD+ B cell percentage - decreased FACS T cells - increased	C ⇒ T	missense		probably damaging	0.978
40	Lyn	0.000	water	4	3678115-3813122 bp (+)	3748787	Autosomal Dominant (1;4) Autosomal Recessive (1;5)	0.783	2019-09-04 Anne Murray	FACS B cells - decreased T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization	C ⇒ T	missense		possibly damaging	0.930
41	Nfkb1	0.000	Frisbee	3	135584655-135691547 bp (-)	135613943	Autosomal Recessive (1;5) Autosomal Semidominant (2;9)	0.835	2019-09-04 Anne Murray	NALP3 inflammasome signaling defect Nlrc4 inflammasome: low response NLRP3 inflammasome: low response total IgE level - decreased	C ⇒ T	missense		possibly damaging	0.934
42	Tcf12	1.000	Substandard	9	71842688-72111871 bp (-)	71858840	Autosomal Dominant (5;24)	0.765	2019-09-04 Anne Murray	FACS B:T cells - decreased FACS B1 cells - decreased FACS B220 MFI - increased FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD44+ CD8 MFI - increased FACS CD44+ 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 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 - increased T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	C ⇒ T	missense		probably null	0.539
43	Cd79b	0.100	Jeju	11	106311341-106314762 bp (-)	106312713	Autosomal Semidominant (5;36)	0.919	2019-09-04 Anne Murray	FACS B cells - decreased FACS B:T cells - decreased FACS B1 cells - decreased FACS CD4+ T cells - increased FACS T cells - increased	C ⇒ T	missense		probably damaging	1.000
44	Dock2	0.000	Launch	11	34226815-34783892 bp (-)	34256562	Autosomal Dominant (1;4) Autosomal Semidominant (1;5)	0.395	2019-09-04 Diantha La Vine	FACS B:T cells - decreased FACS CD8+ T cells - increased	C ⇒ T	missense		probably damaging	1.000
45	Prkcb	0.000	Tikrit	7	122288751-122634402 bp (+)	122627693	Autosomal Dominant (1;4)	0.944	2019-09-04 Anne Murray	T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization	C ⇒ T	missense		probably damaging	0.997
46	Ptprc	0.000	Gentian	1	138062861-138175708 bp (-)	138067885	Autosomal Dominant (4;31) Autosomal Semidominant (2;8)	0.903	2019-09-04 Diantha La Vine	FACS B1 cells - increased FACS B220 MFI - decreased FACS CD44+ CD8 MFI - increased FACS naive CD8 T cells in CD8 T cells - decreased	C ⇒ T	critical splice donor site	1 bp	probably null
47	Itgam	0.109	obscured	7	128062640-128118491 bp (+)	128081634	Autosomal Recessive (1;4)	0.800	2019-02-01 Anne Murray	FACS CD11b+ DCs (gated in CD11c+ cells) - decreased	C ⇒ T	missense		probably damaging	1.000
48	Nlrp3	0.104	Park2	11	59541568-59566956 bp (+)	59565128	Autosomal Dominant (1;4) Autosomal Semidominant (1;5)	0.827	2019-01-29 Diantha La Vine	NALP3 inflammasome signaling defect NLRP3 inflammasome: low response	C ⇒ T	nonsense		probably null
49	Wdr41	0.000	metallica	13	94976344-95023314 bp (+)	95015174	Unknown	no linkage results	2019-01-09 Anne Murray	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 NK1.1+ 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	C ⇒ T	nonsense		probably null
50	Irf8	0.000	gemini	8	120736358-120756694 bp (+)	120743883	Unknown (2;0)	no linkage results	2018-11-29 Diantha La Vine	cellular phenotype FACS CD8+ T cells - decreased immune system MCMV susceptibility response to injected CpG DNA - decreased	C ⇒ T	nonsense		probably null
51	Ifnar1	0.000	shook	16	91485238-91507441 bp (+)	91499537	Unknown (1;0) Autosomal Recessive (2;9)	0.475	2018-11-06 Diantha La Vine	dsDNA induced type I IFN production - decreased FACS central memory CD8 T cells in CD8 T cells - decreased impaired response to dsDNA- type I IFN production by macrophages	C ⇒ T	nonsense		probably null
52	Klf5	1.000	Bernie	14	99298691-99315036 bp (+)	99302230	Autosomal Semidominant (2;13)	0.785	2018-08-08 Anne Murray	DSS: sensitive day 10 DSS: sensitive day 7	C ⇒ T	missense		probably damaging	1.000
53	Slc45a2	0.110	galak	15	11000721-11029233 bp (+)	11012667	Unknown	no linkage results	2018-08-01 Diantha La Vine	pigmentation skin/coat/nails	C ⇒ T	missense		probably benign	0.000
54	Ednrb	0.728	gus-gus	14	103814625-103844402 bp (-)	103820013	Autosomal Recessive (1;2)	failed initial filter	2018-05-29 Anne Murray	lethality-postnatal pigmentation skin/coat/nails	C ⇒ T	missense		probably damaging	0.999
55	Myo5a	0.947	silver_decerebrate_2	9	75071015-75223688 bp (+)	75211127	Unknown	no linkage results	2018-05-22 Anne Murray	behavior/neurological lethality-postnatal life span-post-weaning/aging pigmentation skin/coat/nails	C ⇒ T	missense		probably damaging	1.000
56	Oca2	0.183	snowflake	7	56239760-56536518 bp (+)	56324680	Unknown	no linkage results	2018-01-12 Diantha La Vine	pigmentation skin/coat/nails	C ⇒ T	missense		probably damaging	0.999
57	Fgf5	0.133	splinter	5	98254184-98277030 bp (+)	98261987	Autosomal Recessive (1;4)	0.481	2016-12-08 Anne Murray	skin/coat/nails	C ⇒ T	nonsense		probably null
58	Myo5a	0.947	naoki	9	75071015-75223688 bp (+)	75161492	Autosomal Recessive (1;2)	failed initial filter	2016-12-08 Anne Murray	behavior/neurological pigmentation skin/coat/nails	C ⇒ T	missense		probably damaging	1.000
59	Tyrp1	0.221	ca-los	4	80834123-80851719 bp (+)	80844868	Unknown (2;0) Autosomal Recessive (1;1)	failed initial filter	2016-12-07 Anne Murray	MCMV resistance pigmentation skin/coat/nails	C ⇒ T	nonsense		probably null
60	Vldlr	0.288	r26	19	27216484-27254231 bp (+)	27245654	Unknown	no linkage results	2016-09-20 Katherine Timer	vision/eye	C ⇒ T	missense		probably damaging	0.989
61	Pax3	0.837	Widget	1	78101267-78197134 bp (-)	78122590	Unknown (1;0)	no linkage results	2016-05-13 Peter Jurek	pigmentation skin/coat/nails	C ⇒ T	critical splice donor site	1 bp	probably null
62	Flt3	0.000	warmflash	5	147330741-147400489 bp (-)	147366918	Unknown (1;0)	no linkage results	2016-05-13 Anne Murray	FACS CD4:CD8 - increased FACS CD8+ T cells in CD3+ T cells - decreased growth/size hematopoietic system immune system MCMV susceptibility NK cell response - decreased	C ⇒ T	critical splice donor site	1 bp	probably null
63	Atp7a	0.683	Tigrou-like	X	106027276-106124926 bp (+)	106105250	Unknown	no linkage results	2016-05-13 Anne Murray	lethality-embryonic/perinatal pigmentation skin/coat/nails	C ⇒ T	missense		probably damaging	1.000
64	Tmprss6	0.070	masquerade	15	78439667-78468634 bp (-)	78468000	Unknown	no linkage results	2016-05-13 Peter Jurek	hematopoietic system homeostasis/metabolism iron deficiency reproductive system skin/coat/nails	C ⇒ T	intron		probably benign
65	Col4a4	0.105	aoba	1	82448423-82586849 bp (-)	82535740	Unknown (1;0)	no linkage results	2016-05-13 Stephen Lyon	digestive/alimentary hearing/vestibular/ear renal/urinary system	C ⇒ T	critical splice donor site	1 bp	probably benign
66	Atp11c	0.316	ambrosius	X	60223290-60592698 bp (-)	36608577	Unknown	no linkage results	2016-05-13 Stephen Lyon	anemia FACS B cells - decreased hematopoietic system homeostasis/metabolism immune system liver/biliary system	C ⇒ T	unclassified	1 bp	probably benign
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