Mutagenetix > Incidental Mutation

Incidental Mutation 'R7494:Ank3'

580995

Institutional Source

Beutler Lab

Gene Symbol

Ank3

Ensembl Gene

ENSMUSG00000069601

Gene Name

ankyrin 3, epithelial

Synonyms

AnkG, Ankyrin-3, Ank-3, Ankyrin-G, 2900054D09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R7494 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69234608-69863266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69824756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1142 (Y1142H)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047061] [ENSMUST00000054167] [ENSMUST00000092431] [ENSMUST00000092432] [ENSMUST00000092433] [ENSMUST00000092434] [ENSMUST00000181974] [ENSMUST00000182029] [ENSMUST00000182155] [ENSMUST00000182207] [ENSMUST00000182269] [ENSMUST00000182437] [ENSMUST00000182439] [ENSMUST00000182692] [ENSMUST00000182795] [ENSMUST00000182884] [ENSMUST00000182972] [ENSMUST00000182992] [ENSMUST00000183023] [ENSMUST00000183074] [ENSMUST00000183148] [ENSMUST00000183169] [ENSMUST00000183261] [ENSMUST00000185582] [ENSMUST00000218680]

AlphaFold

G5E8K5

Predicted Effect

probably benign
Transcript: ENSMUST00000047061

SMART Domains

Protein: ENSMUSP00000045834
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ZU5	56	160	2.27e-58	SMART
DEATH	541	635	5.8e-33	SMART
low complexity region	676	696	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054167

SMART Domains

Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ANK	56	85	1.01e-5	SMART
ANK	89	118	1.66e-6	SMART
ANK	122	151	1.1e-6	SMART
ANK	155	183	6.51e0	SMART
ANK	184	213	2.6e1	SMART
ANK	217	246	1.31e-4	SMART
ANK	250	279	5.88e-7	SMART
ANK	283	312	3.23e-4	SMART
ANK	316	345	8.07e-5	SMART
ANK	349	378	1.53e-5	SMART
ANK	382	411	3.88e-7	SMART
ANK	415	444	1.99e-4	SMART
ANK	448	477	9.41e-6	SMART
ANK	481	510	1.14e-4	SMART
ANK	514	543	2.94e-7	SMART
ANK	547	576	3.33e-6	SMART
ANK	580	609	4.56e-4	SMART
ANK	613	642	8.19e-6	SMART
ANK	646	675	5.24e-4	SMART
ANK	679	708	6.46e-4	SMART
ANK	712	741	6.21e-6	SMART
ANK	745	774	1.43e-5	SMART
low complexity region	802	813	N/A	INTRINSIC
low complexity region	867	884	N/A	INTRINSIC
ZU5	944	1048	2.27e-58	SMART
DEATH	1429	1523	5.8e-33	SMART
low complexity region	1760	1780	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092431

SMART Domains

Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ANK	56	85	1.01e-5	SMART
ANK	89	118	1.66e-6	SMART
ANK	122	151	1.1e-6	SMART
ANK	155	183	6.51e0	SMART
ANK	184	213	2.6e1	SMART
ANK	217	246	1.31e-4	SMART
ANK	250	279	5.88e-7	SMART
ANK	283	312	3.23e-4	SMART
ANK	316	345	8.07e-5	SMART
ANK	349	378	1.53e-5	SMART
ANK	382	411	3.88e-7	SMART
ANK	415	444	1.99e-4	SMART
ANK	448	477	9.41e-6	SMART
ANK	481	510	1.14e-4	SMART
ANK	514	543	2.94e-7	SMART
ANK	547	576	3.33e-6	SMART
ANK	580	609	4.56e-4	SMART
ANK	613	642	8.19e-6	SMART
ANK	646	675	5.24e-4	SMART
ANK	679	708	6.46e-4	SMART
ANK	712	741	6.21e-6	SMART
ANK	745	774	1.43e-5	SMART
low complexity region	802	813	N/A	INTRINSIC
low complexity region	885	902	N/A	INTRINSIC
ZU5	962	1066	2.27e-58	SMART
DEATH	1447	1541	5.8e-33	SMART
low complexity region	1778	1798	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092432

SMART Domains

Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ANK	56	85	1.01e-5	SMART
ANK	89	118	1.66e-6	SMART
ANK	122	151	1.1e-6	SMART
ANK	155	183	6.51e0	SMART
ANK	184	213	2.6e1	SMART
ANK	217	246	1.31e-4	SMART
ANK	250	279	5.88e-7	SMART
ANK	283	312	3.23e-4	SMART
ANK	316	345	8.07e-5	SMART
ANK	349	378	1.53e-5	SMART
ANK	382	411	3.88e-7	SMART
ANK	415	444	1.99e-4	SMART
ANK	448	477	9.41e-6	SMART
ANK	481	510	1.14e-4	SMART
ANK	514	543	2.94e-7	SMART
ANK	547	576	3.33e-6	SMART
ANK	580	609	4.56e-4	SMART
ANK	613	642	8.19e-6	SMART
ANK	646	675	5.24e-4	SMART
ANK	679	708	6.46e-4	SMART
ANK	712	741	6.21e-6	SMART
ANK	745	774	1.43e-5	SMART
low complexity region	802	813	N/A	INTRINSIC
low complexity region	888	905	N/A	INTRINSIC
ZU5	965	1069	2.27e-58	SMART
DEATH	1450	1544	5.8e-33	SMART
low complexity region	1781	1801	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092433

SMART Domains

Protein: ENSMUSP00000090089
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
low complexity region	39	56	N/A	INTRINSIC
ZU5	116	220	2.27e-58	SMART
DEATH	601	695	5.8e-33	SMART
low complexity region	932	952	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092434

SMART Domains

Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ANK	56	85	6.5e-8	SMART
ANK	89	118	1.1e-8	SMART
ANK	122	151	7.1e-9	SMART
ANK	155	183	4.2e-2	SMART
ANK	184	213	1.7e-1	SMART
ANK	217	246	8.4e-7	SMART
ANK	250	279	3.8e-9	SMART
ANK	283	312	2.1e-6	SMART
ANK	316	345	5.3e-7	SMART
ANK	349	378	9.9e-8	SMART
ANK	382	411	2.5e-9	SMART
ANK	415	444	1.3e-6	SMART
ANK	448	477	6e-8	SMART
ANK	481	510	7.4e-7	SMART
ANK	514	543	1.9e-9	SMART
ANK	547	576	2.2e-8	SMART
ANK	580	609	3e-6	SMART
ANK	613	642	5.4e-8	SMART
ANK	646	675	3.3e-6	SMART
ANK	679	708	4.3e-6	SMART
ANK	712	741	3.9e-8	SMART
ANK	745	774	9.1e-8	SMART
low complexity region	802	813	N/A	INTRINSIC
low complexity region	906	923	N/A	INTRINSIC
ZU5	983	1087	1.1e-60	SMART
DEATH	1468	1562	3.8e-35	SMART
low complexity region	1799	1819	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181974

SMART Domains

Protein: ENSMUSP00000138285
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
low complexity region	39	56	N/A	INTRINSIC
ZU5	116	220	2.27e-58	SMART
DEATH	601	695	5.8e-33	SMART
low complexity region	736	756	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182029

SMART Domains

Protein: ENSMUSP00000138337
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
low complexity region	39	56	N/A	INTRINSIC
ZU5	116	220	2.27e-58	SMART
DEATH	601	695	5.8e-33	SMART
low complexity region	932	952	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182155

SMART Domains

Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ANK	56	85	1.01e-5	SMART
ANK	89	118	1.66e-6	SMART
ANK	122	151	1.1e-6	SMART
ANK	155	183	6.51e0	SMART
ANK	184	213	2.6e1	SMART
ANK	217	246	1.31e-4	SMART
ANK	250	279	5.88e-7	SMART
ANK	283	312	3.23e-4	SMART
ANK	316	345	8.07e-5	SMART
ANK	349	378	1.53e-5	SMART
ANK	382	411	3.88e-7	SMART
ANK	415	444	1.99e-4	SMART
ANK	448	477	9.41e-6	SMART
ANK	481	510	1.14e-4	SMART
ANK	514	543	2.94e-7	SMART
ANK	547	576	3.33e-6	SMART
ANK	580	609	4.56e-4	SMART
ANK	613	642	8.19e-6	SMART
ANK	646	675	5.24e-4	SMART
ANK	679	708	6.46e-4	SMART
ANK	712	741	6.21e-6	SMART
ANK	745	774	1.43e-5	SMART
low complexity region	802	813	N/A	INTRINSIC
low complexity region	867	884	N/A	INTRINSIC
ZU5	944	1048	2.27e-58	SMART
DEATH	1429	1523	5.8e-33	SMART
low complexity region	1564	1584	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182207

SMART Domains

Protein: ENSMUSP00000138531
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
DEATH	59	153	5.8e-33	SMART
low complexity region	297	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182269

SMART Domains

Protein: ENSMUSP00000138123
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ZU5	115	219	2.27e-58	SMART
DEATH	588	682	7.66e-33	SMART
low complexity region	723	743	N/A	INTRINSIC
low complexity region	886	895	N/A	INTRINSIC
low complexity region	897	909	N/A	INTRINSIC
low complexity region	935	947	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182437

SMART Domains

Protein: ENSMUSP00000138586
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ZU5	115	219	2.27e-58	SMART
DEATH	588	682	7.66e-33	SMART
low complexity region	723	743	N/A	INTRINSIC
low complexity region	869	878	N/A	INTRINSIC
low complexity region	880	892	N/A	INTRINSIC
low complexity region	918	930	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182439

SMART Domains

Protein: ENSMUSP00000138356
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ZU5	56	160	2.27e-58	SMART
DEATH	541	635	5.8e-33	SMART
low complexity region	676	696	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182665

Predicted Effect

probably benign
Transcript: ENSMUST00000182692

SMART Domains

Protein: ENSMUSP00000138623
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
low complexity region	39	56	N/A	INTRINSIC
ZU5	116	220	2.27e-58	SMART
DEATH	601	695	5.8e-33	SMART
low complexity region	839	859	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182795

SMART Domains

Protein: ENSMUSP00000138413
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ZU5	111	215	2.27e-58	SMART
DEATH	584	678	7.66e-33	SMART
low complexity region	719	739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182884

SMART Domains

Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ANK	56	85	6.4e-8	SMART
ANK	89	118	1.1e-8	SMART
ANK	122	151	7e-9	SMART
ANK	155	183	4.1e-2	SMART
ANK	184	213	1.7e-1	SMART
ANK	217	246	8.2e-7	SMART
ANK	250	279	3.7e-9	SMART
ANK	283	312	2.1e-6	SMART
ANK	316	345	5.2e-7	SMART
ANK	349	378	9.7e-8	SMART
ANK	382	411	2.4e-9	SMART
ANK	415	444	1.3e-6	SMART
ANK	448	477	5.9e-8	SMART
ANK	481	510	7.3e-7	SMART
ANK	514	543	1.9e-9	SMART
ANK	547	576	2.1e-8	SMART
ANK	580	609	2.9e-6	SMART
ANK	613	642	5.3e-8	SMART
ANK	646	675	3.2e-6	SMART
ANK	679	708	4.2e-6	SMART
ANK	712	741	3.9e-8	SMART
ANK	745	774	8.9e-8	SMART
low complexity region	802	813	N/A	INTRINSIC
low complexity region	906	923	N/A	INTRINSIC
ZU5	983	1087	1.1e-60	SMART
DEATH	1468	1562	3.7e-35	SMART
low complexity region	1799	1819	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182972

SMART Domains

Protein: ENSMUSP00000138481
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ANK	4	33	1.43e-5	SMART
low complexity region	61	72	N/A	INTRINSIC
low complexity region	126	143	N/A	INTRINSIC
ZU5	203	307	2.27e-58	SMART
DEATH	688	782	5.8e-33	SMART
low complexity region	1019	1039	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182992

SMART Domains

Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
coiled coil region	4	38	N/A	INTRINSIC
ANK	73	102	1.01e-5	SMART
ANK	106	135	1.66e-6	SMART
ANK	139	168	1.1e-6	SMART
ANK	172	200	6.51e0	SMART
ANK	201	230	2.6e1	SMART
ANK	242	271	1.31e-4	SMART
ANK	275	304	5.88e-7	SMART
ANK	308	337	3.23e-4	SMART
ANK	341	370	8.07e-5	SMART
ANK	374	403	1.53e-5	SMART
ANK	407	436	3.88e-7	SMART
ANK	440	469	1.99e-4	SMART
ANK	473	502	9.41e-6	SMART
ANK	506	535	1.14e-4	SMART
ANK	539	568	2.94e-7	SMART
ANK	572	601	3.33e-6	SMART
ANK	605	634	4.56e-4	SMART
ANK	638	667	8.19e-6	SMART
ANK	671	700	5.24e-4	SMART
ANK	704	733	6.46e-4	SMART
ANK	737	766	6.21e-6	SMART
ANK	770	799	1.43e-5	SMART
low complexity region	827	838	N/A	INTRINSIC
low complexity region	913	930	N/A	INTRINSIC
ZU5	990	1094	2.27e-58	SMART
low complexity region	1515	1536	N/A	INTRINSIC
low complexity region	1745	1762	N/A	INTRINSIC
low complexity region	1805	1827	N/A	INTRINSIC
low complexity region	1876	1897	N/A	INTRINSIC
low complexity region	1969	1984	N/A	INTRINSIC
DEATH	2325	2419	7.66e-33	SMART
low complexity region	2460	2480	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183023

SMART Domains

Protein: ENSMUSP00000138450
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
DEATH	260	354	7.66e-33	SMART
low complexity region	395	415	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183074

SMART Domains

Protein: ENSMUSP00000138671
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ZU5	115	219	2.27e-58	SMART
DEATH	588	682	7.66e-33	SMART
low complexity region	919	939	N/A	INTRINSIC
low complexity region	1065	1074	N/A	INTRINSIC
low complexity region	1076	1088	N/A	INTRINSIC
low complexity region	1114	1126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183082

Predicted Effect

probably benign
Transcript: ENSMUST00000183148

SMART Domains

Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ANK	56	85	1.01e-5	SMART
ANK	89	118	1.66e-6	SMART
ANK	122	151	1.1e-6	SMART
ANK	155	183	6.51e0	SMART
ANK	184	213	2.6e1	SMART
ANK	217	246	1.31e-4	SMART
ANK	250	279	5.88e-7	SMART
ANK	283	312	3.23e-4	SMART
ANK	316	345	8.07e-5	SMART
ANK	349	378	1.53e-5	SMART
ANK	382	411	3.88e-7	SMART
ANK	415	444	1.99e-4	SMART
ANK	448	477	9.41e-6	SMART
ANK	481	510	1.14e-4	SMART
ANK	514	543	2.94e-7	SMART
ANK	547	576	3.33e-6	SMART
ANK	580	609	4.56e-4	SMART
ANK	613	642	8.19e-6	SMART
ANK	646	675	5.24e-4	SMART
ANK	679	708	6.46e-4	SMART
ANK	712	741	6.21e-6	SMART
ANK	745	774	1.43e-5	SMART
low complexity region	802	813	N/A	INTRINSIC
ZU5	943	1047	2.27e-58	SMART
DEATH	1416	1510	7.66e-33	SMART
low complexity region	1747	1767	N/A	INTRINSIC
low complexity region	1893	1902	N/A	INTRINSIC
low complexity region	1904	1916	N/A	INTRINSIC
low complexity region	1942	1954	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183169

SMART Domains

Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ANK	56	85	1.01e-5	SMART
ANK	89	118	1.66e-6	SMART
ANK	122	151	1.1e-6	SMART
ANK	155	183	6.51e0	SMART
ANK	184	213	2.6e1	SMART
ANK	217	246	1.31e-4	SMART
ANK	250	279	5.88e-7	SMART
ANK	283	312	3.23e-4	SMART
ANK	316	345	8.07e-5	SMART
ANK	349	378	1.53e-5	SMART
ANK	382	411	3.88e-7	SMART
ANK	415	444	1.99e-4	SMART
ANK	448	477	9.41e-6	SMART
ANK	481	510	1.14e-4	SMART
ANK	514	543	2.94e-7	SMART
ANK	547	576	3.33e-6	SMART
ANK	580	609	4.56e-4	SMART
ANK	613	642	8.19e-6	SMART
ANK	646	675	5.24e-4	SMART
ANK	679	708	6.46e-4	SMART
ANK	712	741	6.21e-6	SMART
ANK	745	774	1.43e-5	SMART
low complexity region	802	813	N/A	INTRINSIC
ZU5	943	1047	2.27e-58	SMART
DEATH	1416	1510	7.66e-33	SMART
low complexity region	1551	1571	N/A	INTRINSIC
low complexity region	1715	1724	N/A	INTRINSIC
low complexity region	1726	1738	N/A	INTRINSIC
low complexity region	1764	1776	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183261

SMART Domains

Protein: ENSMUSP00000138095
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
ZU5	115	219	2.27e-58	SMART
DEATH	588	682	7.66e-33	SMART
low complexity region	919	939	N/A	INTRINSIC
low complexity region	1082	1091	N/A	INTRINSIC
low complexity region	1093	1105	N/A	INTRINSIC
low complexity region	1131	1143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185582

SMART Domains

Protein: ENSMUSP00000140724
Gene: ENSMUSG00000069601

Domain	Start	End	E-Value	Type
low complexity region	66	94	N/A	INTRINSIC
Pfam:Death	138	178	7.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218680

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the ankyrin protein family. Ankyrins link integral membrane proteins to the spectrin-based cytoskeleton. Ankyrin family members share a protein structure which includes three independently folded domains: the N-terminal ankyrin repeat domain, the central spectrin-binding domain, and the C-terminal rod domain. This ankyrin functions as the major ankyrin in the kidney and may play a role in the polarized distribution of many integral membrane proteins to specific subcellular sites. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,099,571 (GRCm39)	T992I	possibly damaging	Het
Adamts10	T	A	17: 33,768,352 (GRCm39)	C841*	probably null	Het
AI661453	C	T	17: 47,779,105 (GRCm39)	P944S	unknown	Het
Als2	G	A	1: 59,222,325 (GRCm39)		probably null	Het
Anapc2	A	G	2: 25,166,376 (GRCm39)	E381G	possibly damaging	Het
Apip	A	T	2: 102,922,896 (GRCm39)	N238I	probably benign	Het
Cblc	A	T	7: 19,526,737 (GRCm39)	V165D	possibly damaging	Het
Cep295nl	T	A	11: 118,224,758 (GRCm39)	M29L	probably benign	Het
Clec12a	A	G	6: 129,330,362 (GRCm39)	I47V	possibly damaging	Het
Dpp9	T	C	17: 56,507,619 (GRCm39)	Y350C	probably damaging	Het
Enpp2	C	T	15: 54,773,554 (GRCm39)	G56R	probably damaging	Het
Epsti1	G	T	14: 78,166,194 (GRCm39)	E82D	probably benign	Het
Eri2	C	A	7: 119,385,304 (GRCm39)	C399F	probably damaging	Het
Ern1	T	C	11: 106,298,361 (GRCm39)	T672A	probably damaging	Het
Fbxo21	T	A	5: 118,138,388 (GRCm39)	C445S	possibly damaging	Het
Folh1	G	T	7: 86,368,907 (GRCm39)	T740K	probably damaging	Het
Gapt	A	G	13: 110,490,262 (GRCm39)	Y134H	probably damaging	Het
Gm19410	T	C	8: 36,262,684 (GRCm39)	S874P	probably damaging	Het
Gm2431	G	A	7: 141,811,547 (GRCm39)	P119L	unknown	Het
Gzmc	G	A	14: 56,469,785 (GRCm39)	Q172*	probably null	Het
Hoxa1	C	A	6: 52,134,571 (GRCm39)	V211F	probably damaging	Het
Hyou1	G	T	9: 44,300,706 (GRCm39)	R925L	probably benign	Het
Ift70a1	A	C	2: 75,810,242 (GRCm39)	F614V	probably damaging	Het
Ilvbl	A	G	10: 78,414,857 (GRCm39)	Y240C	possibly damaging	Het
Lama1	T	A	17: 68,118,441 (GRCm39)	F2551Y		Het
Lrrtm3	A	G	10: 63,924,958 (GRCm39)	Y70H	probably damaging	Het
Naa38	T	A	11: 69,287,126 (GRCm39)	C69S	probably damaging	Het
Or12e7	T	A	2: 87,287,912 (GRCm39)	N134K	probably damaging	Het
Or2t46	T	C	11: 58,472,038 (GRCm39)	S123P	probably damaging	Het
Or8k25	A	T	2: 86,243,592 (GRCm39)	I268N	probably benign	Het
Panx3	A	G	9: 37,572,608 (GRCm39)	L314P	probably damaging	Het
Polr2f	T	C	15: 79,028,865 (GRCm39)		probably null	Het
Prkcd	C	A	14: 30,331,150 (GRCm39)	R75L	probably benign	Het
Psap	A	C	10: 60,135,275 (GRCm39)	L313F	probably benign	Het
Psen1	T	A	12: 83,775,017 (GRCm39)	C263S	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Pura	T	A	18: 36,420,942 (GRCm39)	M243K	probably damaging	Het
Sec16b	T	C	1: 157,388,369 (GRCm39)	S579P	probably benign	Het
Septin1	T	A	7: 126,814,122 (GRCm39)	E338V	probably damaging	Het
Sgms1	A	G	19: 32,107,091 (GRCm39)	F255L	probably benign	Het
Slc4a2	A	G	5: 24,637,862 (GRCm39)	T353A	possibly damaging	Het
Smg6	T	C	11: 74,820,449 (GRCm39)	V240A	probably benign	Het
Sntg2	T	G	12: 30,279,633 (GRCm39)	D340A	possibly damaging	Het
Sun1	C	T	5: 139,221,475 (GRCm39)	P553S	probably benign	Het
Tas2r140	T	C	6: 40,468,254 (GRCm39)	V28A	probably damaging	Het
Tfcp2l1	T	C	1: 118,592,686 (GRCm39)	F323S	probably damaging	Het
Thoc2l	T	C	5: 104,666,284 (GRCm39)	Y269H	possibly damaging	Het
Tpcn2	G	A	7: 144,832,586 (GRCm39)	T90I	possibly damaging	Het
Ttn	A	T	2: 76,720,321 (GRCm39)	Y6968*	probably null	Het
Vmn2r44	A	T	7: 8,386,122 (GRCm39)	L39*	probably null	Het

Other mutations in Ank3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Ank3	APN	10	69,818,035 (GRCm39)	splice site	probably benign
IGL00578:Ank3	APN	10	69,838,224 (GRCm39)	missense	possibly damaging	0.95
IGL00851:Ank3	APN	10	69,710,663 (GRCm39)	missense	probably damaging	0.99
IGL01067:Ank3	APN	10	69,686,026 (GRCm39)	missense	probably damaging	1.00
IGL01483:Ank3	APN	10	69,710,639 (GRCm39)	missense	probably damaging	1.00
IGL01549:Ank3	APN	10	69,768,250 (GRCm39)	missense	probably damaging	1.00
IGL01576:Ank3	APN	10	69,816,121 (GRCm39)	missense	probably damaging	1.00
IGL01601:Ank3	APN	10	69,840,555 (GRCm39)	missense	possibly damaging	0.87
IGL02047:Ank3	APN	10	69,728,324 (GRCm39)	missense	possibly damaging	0.94
IGL02088:Ank3	APN	10	69,835,203 (GRCm39)	missense	probably damaging	1.00
IGL02159:Ank3	APN	10	69,644,722 (GRCm39)	missense	probably damaging	1.00
IGL02249:Ank3	APN	10	69,718,200 (GRCm39)	missense	probably damaging	1.00
IGL02942:Ank3	APN	10	69,809,707 (GRCm39)	missense	probably damaging	1.00
IGL02979:Ank3	APN	10	69,837,929 (GRCm39)	missense	probably benign	0.01
IGL03379:Ank3	APN	10	69,809,602 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Ank3	UTSW	10	69,828,902 (GRCm39)	missense
R0011:Ank3	UTSW	10	69,815,281 (GRCm39)	splice site	probably benign
R0011:Ank3	UTSW	10	69,815,281 (GRCm39)	splice site	probably benign
R0172:Ank3	UTSW	10	69,811,888 (GRCm39)	missense	probably damaging	1.00
R0315:Ank3	UTSW	10	69,838,347 (GRCm39)	missense	probably damaging	0.98
R0480:Ank3	UTSW	10	69,715,756 (GRCm39)	missense	probably damaging	0.96
R0485:Ank3	UTSW	10	69,718,374 (GRCm39)	missense	possibly damaging	0.89
R0511:Ank3	UTSW	10	69,718,198 (GRCm39)	missense	probably damaging	1.00
R1148:Ank3	UTSW	10	69,718,369 (GRCm39)	missense	probably damaging	1.00
R1148:Ank3	UTSW	10	69,718,369 (GRCm39)	missense	probably damaging	1.00
R1165:Ank3	UTSW	10	69,734,132 (GRCm39)	missense	possibly damaging	0.90
R1186:Ank3	UTSW	10	69,703,290 (GRCm39)	missense	probably damaging	1.00
R1257:Ank3	UTSW	10	69,710,665 (GRCm39)	nonsense	probably null
R1300:Ank3	UTSW	10	69,840,495 (GRCm39)	missense	probably benign	0.03
R1391:Ank3	UTSW	10	69,370,110 (GRCm39)	missense	possibly damaging	0.96
R1549:Ank3	UTSW	10	69,837,812 (GRCm39)	missense	probably benign	0.18
R1586:Ank3	UTSW	10	69,713,708 (GRCm39)	missense	probably damaging	0.98
R1619:Ank3	UTSW	10	69,715,805 (GRCm39)	missense	probably damaging	1.00
R1643:Ank3	UTSW	10	69,720,632 (GRCm39)	missense	probably benign	0.00
R1874:Ank3	UTSW	10	69,733,913 (GRCm39)	missense	probably damaging	1.00
R1884:Ank3	UTSW	10	69,851,422 (GRCm39)	missense	possibly damaging	0.53
R1901:Ank3	UTSW	10	69,658,167 (GRCm39)	missense	probably damaging	1.00
R1986:Ank3	UTSW	10	69,703,258 (GRCm39)	missense	probably damaging	1.00
R2051:Ank3	UTSW	10	69,733,920 (GRCm39)	missense	probably damaging	0.97
R2273:Ank3	UTSW	10	69,786,772 (GRCm39)	splice site	probably null
R2274:Ank3	UTSW	10	69,786,772 (GRCm39)	splice site	probably null
R2421:Ank3	UTSW	10	69,818,034 (GRCm39)	splice site	probably benign
R2434:Ank3	UTSW	10	69,837,948 (GRCm39)	missense	probably damaging	1.00
R2969:Ank3	UTSW	10	69,830,225 (GRCm39)	missense	probably damaging	1.00
R3426:Ank3	UTSW	10	69,542,724 (GRCm39)	missense	probably benign
R3885:Ank3	UTSW	10	69,734,866 (GRCm39)	missense	probably damaging	1.00
R3936:Ank3	UTSW	10	69,715,819 (GRCm39)	nonsense	probably null
R4258:Ank3	UTSW	10	69,840,592 (GRCm39)	missense	probably benign	0.33
R4320:Ank3	UTSW	10	69,740,076 (GRCm39)	missense	possibly damaging	0.70
R4434:Ank3	UTSW	10	69,822,900 (GRCm39)	missense	probably damaging	0.99
R4435:Ank3	UTSW	10	69,822,900 (GRCm39)	missense	probably damaging	0.99
R4486:Ank3	UTSW	10	69,837,804 (GRCm39)	missense	possibly damaging	0.86
R4489:Ank3	UTSW	10	69,734,086 (GRCm39)	missense	probably damaging	1.00
R4492:Ank3	UTSW	10	69,644,755 (GRCm39)	missense	probably damaging	1.00
R4508:Ank3	UTSW	10	69,728,200 (GRCm39)	missense	probably damaging	1.00
R4561:Ank3	UTSW	10	69,837,848 (GRCm39)	missense	probably damaging	0.99
R4724:Ank3	UTSW	10	69,542,688 (GRCm39)	missense	probably benign
R4751:Ank3	UTSW	10	69,822,036 (GRCm39)	missense	probably benign	0.19
R4790:Ank3	UTSW	10	69,823,981 (GRCm39)	nonsense	probably null
R4795:Ank3	UTSW	10	69,694,095 (GRCm39)	missense	probably benign	0.36
R4921:Ank3	UTSW	10	69,837,939 (GRCm39)	missense	probably damaging	1.00
R4932:Ank3	UTSW	10	69,734,053 (GRCm39)	splice site	probably null
R4935:Ank3	UTSW	10	69,812,033 (GRCm39)	missense	probably damaging	0.99
R4946:Ank3	UTSW	10	69,733,947 (GRCm39)	missense	probably damaging	1.00
R5174:Ank3	UTSW	10	69,728,209 (GRCm39)	missense	probably damaging	0.99
R5208:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R5248:Ank3	UTSW	10	69,822,938 (GRCm39)	missense	probably benign	0.00
R5255:Ank3	UTSW	10	69,721,030 (GRCm39)	missense	probably damaging	1.00
R5307:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R5308:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R5373:Ank3	UTSW	10	69,789,306 (GRCm39)	splice site	probably null
R5374:Ank3	UTSW	10	69,789,306 (GRCm39)	splice site	probably null
R5502:Ank3	UTSW	10	69,756,291 (GRCm39)	missense	probably benign	0.12
R5508:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R5509:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R5510:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R5538:Ank3	UTSW	10	69,823,257 (GRCm39)	missense	probably damaging	1.00
R5664:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R5665:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R5682:Ank3	UTSW	10	69,729,347 (GRCm39)	missense	probably damaging	1.00
R5834:Ank3	UTSW	10	69,658,087 (GRCm39)	missense	probably damaging	1.00
R5881:Ank3	UTSW	10	69,822,660 (GRCm39)	missense	probably benign	0.31
R5914:Ank3	UTSW	10	69,828,774 (GRCm39)	intron	probably benign
R5940:Ank3	UTSW	10	69,756,316 (GRCm39)	missense	probably benign	0.00
R5952:Ank3	UTSW	10	69,822,293 (GRCm39)	missense	probably benign	0.07
R5963:Ank3	UTSW	10	69,823,056 (GRCm39)	nonsense	probably null
R6075:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R6076:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R6077:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R6081:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R6092:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R6118:Ank3	UTSW	10	69,830,231 (GRCm39)	missense	probably damaging	0.98
R6135:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R6175:Ank3	UTSW	10	69,763,557 (GRCm39)	missense	probably damaging	1.00
R6248:Ank3	UTSW	10	69,809,680 (GRCm39)	missense	probably benign	0.10
R6249:Ank3	UTSW	10	69,658,906 (GRCm39)	critical splice acceptor site	probably null
R6273:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R6274:Ank3	UTSW	10	69,838,395 (GRCm39)	missense	possibly damaging	0.91
R6290:Ank3	UTSW	10	69,827,198 (GRCm39)	intron	probably benign
R6298:Ank3	UTSW	10	69,686,006 (GRCm39)	missense	probably damaging	1.00
R6349:Ank3	UTSW	10	69,815,269 (GRCm39)	missense	probably damaging	1.00
R6366:Ank3	UTSW	10	69,835,188 (GRCm39)	missense	probably damaging	1.00
R6371:Ank3	UTSW	10	69,644,709 (GRCm39)	missense	probably damaging	1.00
R6459:Ank3	UTSW	10	69,827,577 (GRCm39)	intron	probably benign
R6489:Ank3	UTSW	10	69,827,459 (GRCm39)	missense	probably benign	0.00
R6491:Ank3	UTSW	10	69,827,459 (GRCm39)	missense	probably benign	0.00
R6499:Ank3	UTSW	10	69,827,574 (GRCm39)	intron	probably benign
R6520:Ank3	UTSW	10	69,824,217 (GRCm39)	missense	probably damaging	1.00
R6521:Ank3	UTSW	10	69,828,596 (GRCm39)	intron	probably benign
R6535:Ank3	UTSW	10	69,713,684 (GRCm39)	missense	probably damaging	1.00
R6548:Ank3	UTSW	10	69,728,240 (GRCm39)	missense	probably damaging	1.00
R6587:Ank3	UTSW	10	69,825,982 (GRCm39)	intron	probably benign
R6624:Ank3	UTSW	10	69,740,298 (GRCm39)	missense	possibly damaging	0.66
R6722:Ank3	UTSW	10	69,826,074 (GRCm39)	intron	probably benign
R6729:Ank3	UTSW	10	69,644,755 (GRCm39)	missense	probably damaging	1.00
R6731:Ank3	UTSW	10	69,849,858 (GRCm39)	missense	possibly damaging	0.70
R6742:Ank3	UTSW	10	69,827,412 (GRCm39)	intron	probably benign
R6788:Ank3	UTSW	10	69,840,553 (GRCm39)	missense	probably damaging	1.00
R6846:Ank3	UTSW	10	69,660,179 (GRCm39)	missense	probably damaging	1.00
R6933:Ank3	UTSW	10	69,740,042 (GRCm39)	missense	probably damaging	1.00
R7034:Ank3	UTSW	10	69,835,209 (GRCm39)	missense	probably damaging	1.00
R7036:Ank3	UTSW	10	69,835,209 (GRCm39)	missense	probably damaging	1.00
R7132:Ank3	UTSW	10	69,825,744 (GRCm39)	missense
R7171:Ank3	UTSW	10	69,828,311 (GRCm39)	missense
R7241:Ank3	UTSW	10	69,542,644 (GRCm39)	start codon destroyed	probably null	0.11
R7386:Ank3	UTSW	10	69,658,079 (GRCm39)	missense	unknown
R7445:Ank3	UTSW	10	69,827,954 (GRCm39)	missense
R7452:Ank3	UTSW	10	69,734,881 (GRCm39)	missense	possibly damaging	0.53
R7492:Ank3	UTSW	10	69,718,357 (GRCm39)	missense	unknown
R7512:Ank3	UTSW	10	69,826,691 (GRCm39)	missense
R7543:Ank3	UTSW	10	69,786,846 (GRCm39)	missense	possibly damaging	0.96
R7577:Ank3	UTSW	10	69,828,402 (GRCm39)	missense
R7610:Ank3	UTSW	10	69,822,252 (GRCm39)	missense
R7673:Ank3	UTSW	10	69,826,331 (GRCm39)	missense
R7682:Ank3	UTSW	10	69,824,065 (GRCm39)	missense	possibly damaging	0.53
R7814:Ank3	UTSW	10	69,822,734 (GRCm39)	missense
R7835:Ank3	UTSW	10	69,823,557 (GRCm39)	missense
R7843:Ank3	UTSW	10	69,822,788 (GRCm39)	missense	probably benign	0.01
R7891:Ank3	UTSW	10	69,824,139 (GRCm39)	missense	probably damaging	1.00
R8109:Ank3	UTSW	10	69,826,148 (GRCm39)	missense
R8175:Ank3	UTSW	10	69,729,339 (GRCm39)	missense	unknown
R8210:Ank3	UTSW	10	69,811,925 (GRCm39)	missense	possibly damaging	0.72
R8211:Ank3	UTSW	10	69,703,228 (GRCm39)	missense	unknown
R8299:Ank3	UTSW	10	69,811,981 (GRCm39)	missense	probably damaging	0.98
R8302:Ank3	UTSW	10	69,840,810 (GRCm39)	missense	possibly damaging	0.73
R8516:Ank3	UTSW	10	69,763,559 (GRCm39)	nonsense	probably null
R8543:Ank3	UTSW	10	69,838,266 (GRCm39)	missense	probably damaging	1.00
R8549:Ank3	UTSW	10	69,818,012 (GRCm39)	missense	possibly damaging	0.74
R8726:Ank3	UTSW	10	69,823,084 (GRCm39)	missense
R8729:Ank3	UTSW	10	69,838,428 (GRCm39)	missense	possibly damaging	0.85
R8735:Ank3	UTSW	10	69,822,785 (GRCm39)	missense	probably benign	0.24
R8751:Ank3	UTSW	10	69,761,849 (GRCm39)	intron	probably benign
R8788:Ank3	UTSW	10	69,718,256 (GRCm39)	missense	unknown
R8875:Ank3	UTSW	10	69,660,233 (GRCm39)	missense	unknown
R8919:Ank3	UTSW	10	69,840,671 (GRCm39)	missense	possibly damaging	0.72
R8932:Ank3	UTSW	10	69,660,292 (GRCm39)	missense	probably benign	0.00
R9053:Ank3	UTSW	10	69,822,389 (GRCm39)	missense
R9064:Ank3	UTSW	10	69,822,185 (GRCm39)	missense
R9084:Ank3	UTSW	10	69,786,879 (GRCm39)	missense	probably benign	0.12
R9160:Ank3	UTSW	10	69,838,304 (GRCm39)	missense	unknown
R9275:Ank3	UTSW	10	69,822,662 (GRCm39)	missense	probably damaging	1.00
R9280:Ank3	UTSW	10	69,818,021 (GRCm39)	missense	possibly damaging	0.83
R9300:Ank3	UTSW	10	69,706,872 (GRCm39)	missense	unknown
R9302:Ank3	UTSW	10	69,761,849 (GRCm39)	intron	probably benign
R9327:Ank3	UTSW	10	69,812,086 (GRCm39)	critical splice donor site	probably null
R9336:Ank3	UTSW	10	69,809,578 (GRCm39)	missense	probably benign	0.00
R9345:Ank3	UTSW	10	69,761,899 (GRCm39)	intron	probably benign
R9368:Ank3	UTSW	10	69,823,329 (GRCm39)	missense
R9406:Ank3	UTSW	10	69,645,011 (GRCm39)	missense	unknown
R9491:Ank3	UTSW	10	69,838,339 (GRCm39)	critical splice acceptor site	probably null
R9573:Ank3	UTSW	10	69,791,977 (GRCm39)	nonsense	probably null
R9674:Ank3	UTSW	10	69,824,549 (GRCm39)	missense
R9710:Ank3	UTSW	10	69,829,070 (GRCm39)	missense
R9720:Ank3	UTSW	10	69,825,335 (GRCm39)	missense
R9767:Ank3	UTSW	10	69,823,799 (GRCm39)	missense	probably damaging	1.00
R9800:Ank3	UTSW	10	69,733,957 (GRCm39)	missense	unknown
Z1176:Ank3	UTSW	10	69,827,045 (GRCm39)	missense
Z1176:Ank3	UTSW	10	69,786,840 (GRCm39)	missense	possibly damaging	0.85
Z1176:Ank3	UTSW	10	69,768,304 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATCAGAAAGACTTATCCCGGGG -3'
(R):5'- ACCCCTGTAACTCTGAGCTAGG -3'

Sequencing Primer
(F):5'- AGACTTATCCCGGGGAAATATTAAC -3'
(R):5'- TAACTCTGAGCTAGGGGGTCC -3'

Posted On

2019-10-17