Mutagenetix > Incidental Mutations

Incidental Mutation 'R2421:Ank3'

249297

Institutional Source

Beutler Lab

Gene Symbol

Ank3

Ensembl Gene

ENSMUSG00000069601

Gene Name

ankyrin 3, epithelial

Synonyms

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

MMRRC Submission

040383-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R2421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69398773-70027438 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 69982204 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151906 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000182762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182474

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

noncoding transcript
Transcript: ENSMUST00000182606

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: 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: ENSMUST00000186247

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: 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: ENSMUST00000183082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182687

Predicted Effect

probably benign
Transcript: ENSMUST00000218680

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: 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: 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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	T	C	5: 5,455,912	Y123C	probably benign	Het
2010300C02Rik	C	A	1: 37,613,475	V1084L	probably benign	Het
Abraxas1	C	T	5: 100,812,174	R104H	possibly damaging	Het
Adamts3	A	G	5: 89,683,175	S1007P	probably damaging	Het
Adcy10	T	A	1: 165,558,597	L1118Q	probably damaging	Het
Adgre4	A	G	17: 55,778,872	E57G	probably benign	Het
Alpk2	T	C	18: 65,306,616	S1036G	probably benign	Het
Ankfy1	T	A	11: 72,755,896		probably benign	Het
Antxrl	A	G	14: 34,071,689		probably benign	Het
Apaf1	A	T	10: 91,020,723	V874D	probably damaging	Het
Arhgap39	T	A	15: 76,725,146	T1025S	probably damaging	Het
Arhgef12	A	T	9: 43,001,006	C519S	probably damaging	Het
Aspm	G	A	1: 139,488,487	V1512M	possibly damaging	Het
Atp13a3	T	C	16: 30,349,825	T449A	probably benign	Het
Atxn2	A	T	5: 121,802,079		probably null	Het
Birc6	T	A	17: 74,660,614	L301Q	probably damaging	Het
Camk2d	A	G	3: 126,780,415	D157G	probably damaging	Het
Ccdc122	T	C	14: 77,091,663		probably benign	Het
Ccdc137	G	A	11: 120,462,264		probably null	Het
Ccdc18	A	C	5: 108,228,588	E1298D	probably damaging	Het
Col4a3	G	A	1: 82,670,275		probably benign	Het
Coq10b	G	A	1: 55,052,977	A35T	probably benign	Het
Creb3l3	T	C	10: 81,091,818	I47V	probably benign	Het
Csgalnact1	A	T	8: 68,461,508	I15N	probably benign	Het
Dcp1b	A	G	6: 119,215,266	Q381R	probably benign	Het
Dnajc21	A	G	15: 10,461,935	S127P	probably benign	Het
Dnal1	C	T	12: 84,136,706	Q80*	probably null	Het
Dtd2	A	G	12: 51,999,855	V67A	probably benign	Het
Gart	A	G	16: 91,643,040		probably null	Het
Gm17421	T	A	12: 113,369,487		noncoding transcript	Het
Gm6327	T	C	16: 12,760,094		noncoding transcript	Het
Gm8674	T	C	13: 49,900,663		noncoding transcript	Het
Gpr107	G	A	2: 31,185,529	G351S	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999	I308V	probably benign	Het
Krt13	A	T	11: 100,120,051	L159Q	probably benign	Het
Krt78	T	C	15: 101,947,264	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553	M541L	probably benign	Het
Lenep	G	A	3: 89,402,574		probably null	Het
Lrp1b	T	C	2: 40,882,133		probably benign	Het
Ly6g6e	G	A	17: 35,078,146	R121Q	probably benign	Het
Lyn	C	T	4: 3,748,787	A255V	possibly damaging	Het
Mdn1	T	A	4: 32,723,621	I2519K	probably damaging	Het
Mmaa	T	A	8: 79,281,432	R59W	probably damaging	Het
Ms4a4b	A	G	19: 11,454,697	I61V	possibly damaging	Het
Ndufaf1	T	C	2: 119,655,737	E298G	probably damaging	Het
Olfr1219	T	C	2: 89,074,992	Y33C	possibly damaging	Het
Olfr175-ps1	T	C	16: 58,824,346	D121G	probably damaging	Het
Olfr178	T	C	16: 58,889,965	E85G	probably benign	Het
Olfr211	T	A	6: 116,493,713	C35S	probably benign	Het
Olfr975	A	G	9: 39,950,528	L81P	possibly damaging	Het
Pef1	C	A	4: 130,127,317	C221*	probably null	Het
Plekhg1	G	A	10: 3,958,048	M988I	probably benign	Het
Pnliprp1	T	A	19: 58,744,085	I460N	probably benign	Het
Ppfia4	T	C	1: 134,327,400	N239S	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653		probably benign	Het
Prlr	T	A	15: 10,319,257	W91R	probably damaging	Het
Psmd2	T	A	16: 20,660,106		probably null	Het
Ptprt	T	A	2: 162,278,040		probably benign	Het
Rbm12b2	T	C	4: 12,095,127	F662S	possibly damaging	Het
Rgs6	C	A	12: 83,116,283	T421K	possibly damaging	Het
Ryr2	T	G	13: 11,591,237	Q4486H	probably damaging	Het
Scn7a	A	T	2: 66,726,302		probably benign	Het
Smc1a	A	G	X: 152,047,975		probably benign	Het
Synrg	A	G	11: 84,009,224	E674G	probably damaging	Het
Syt9	G	A	7: 107,436,781	R335K	probably benign	Het
Taar7a	T	C	10: 23,992,517	N322S	probably damaging	Het
Tfb2m	C	A	1: 179,533,666	W252C	possibly damaging	Het
Tmub2	T	A	11: 102,287,755	D161E	probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Tyw1	A	T	5: 130,269,260	H214L	probably damaging	Het
Tyw5	A	G	1: 57,396,748	I82T	possibly damaging	Het
Uba6	A	G	5: 86,132,616		probably null	Het
Unc13c	T	C	9: 73,931,547	Y674C	probably damaging	Het
Vangl2	T	C	1: 172,007,959	Y382C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532	Y605H	probably benign	Het
Vps13a	T	G	19: 16,759,671	I101L	probably benign	Het
Washc4	T	A	10: 83,579,521	F792I	probably damaging	Het
Wdhd1	G	A	14: 47,258,584	H608Y	probably benign	Het
Wdr48	T	A	9: 119,902,404	I56K	probably damaging	Het
Xpo4	T	C	14: 57,629,503	D194G	probably benign	Het
Zfp644	A	G	5: 106,637,244	M479T	possibly damaging	Het
Zfp821	T	A	8: 109,709,533		probably null	Het
Zswim8	A	G	14: 20,719,457	Y1237C	probably damaging	Het

Other mutations in Ank3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Ank3	APN	10	69982205	splice site	probably benign
IGL00578:Ank3	APN	10	70002394	missense	possibly damaging	0.95
IGL00851:Ank3	APN	10	69874833	missense	probably damaging	0.99
IGL01067:Ank3	APN	10	69850196	missense	probably damaging	1.00
IGL01483:Ank3	APN	10	69874809	missense	probably damaging	1.00
IGL01549:Ank3	APN	10	69932420	missense	probably damaging	1.00
IGL01576:Ank3	APN	10	69980291	missense	probably damaging	1.00
IGL01601:Ank3	APN	10	70004725	missense	possibly damaging	0.87
IGL02047:Ank3	APN	10	69892494	missense	possibly damaging	0.94
IGL02088:Ank3	APN	10	69999373	missense	probably damaging	1.00
IGL02159:Ank3	APN	10	69808892	missense	probably damaging	1.00
IGL02249:Ank3	APN	10	69882370	missense	probably damaging	1.00
IGL02942:Ank3	APN	10	69973877	missense	probably damaging	1.00
IGL02979:Ank3	APN	10	70002099	missense	probably benign	0.01
IGL03379:Ank3	APN	10	69973772	missense	probably damaging	1.00
PIT4495001:Ank3	UTSW	10	69993072	missense
R0011:Ank3	UTSW	10	69979451	splice site	probably benign
R0011:Ank3	UTSW	10	69979451	splice site	probably benign
R0172:Ank3	UTSW	10	69976058	missense	probably damaging	1.00
R0315:Ank3	UTSW	10	70002517	missense	probably damaging	0.98
R0480:Ank3	UTSW	10	69879926	missense	probably damaging	0.96
R0485:Ank3	UTSW	10	69882544	missense	possibly damaging	0.89
R0511:Ank3	UTSW	10	69882368	missense	probably damaging	1.00
R1148:Ank3	UTSW	10	69882539	missense	probably damaging	1.00
R1148:Ank3	UTSW	10	69882539	missense	probably damaging	1.00
R1165:Ank3	UTSW	10	69898302	missense	possibly damaging	0.90
R1186:Ank3	UTSW	10	69867460	missense	probably damaging	1.00
R1257:Ank3	UTSW	10	69874835	nonsense	probably null
R1300:Ank3	UTSW	10	70004665	missense	probably benign	0.03
R1391:Ank3	UTSW	10	69534280	missense	possibly damaging	0.96
R1549:Ank3	UTSW	10	70001982	missense	probably benign	0.18
R1586:Ank3	UTSW	10	69877878	missense	probably damaging	0.98
R1619:Ank3	UTSW	10	69879975	missense	probably damaging	1.00
R1643:Ank3	UTSW	10	69884802	missense	probably benign	0.00
R1874:Ank3	UTSW	10	69898083	missense	probably damaging	1.00
R1884:Ank3	UTSW	10	70015592	missense	possibly damaging	0.53
R1901:Ank3	UTSW	10	69822337	missense	probably damaging	1.00
R1986:Ank3	UTSW	10	69867428	missense	probably damaging	1.00
R2051:Ank3	UTSW	10	69898090	missense	probably damaging	0.97
R2273:Ank3	UTSW	10	69950942	splice site	probably null
R2274:Ank3	UTSW	10	69950942	splice site	probably null
R2434:Ank3	UTSW	10	70002118	missense	probably damaging	1.00
R2969:Ank3	UTSW	10	69994395	missense	probably damaging	1.00
R3426:Ank3	UTSW	10	69706894	missense	probably benign
R3885:Ank3	UTSW	10	69899036	missense	probably damaging	1.00
R3936:Ank3	UTSW	10	69879989	nonsense	probably null
R4258:Ank3	UTSW	10	70004762	missense	probably benign	0.33
R4320:Ank3	UTSW	10	69904246	missense	possibly damaging	0.70
R4434:Ank3	UTSW	10	69987070	missense	probably damaging	0.99
R4435:Ank3	UTSW	10	69987070	missense	probably damaging	0.99
R4486:Ank3	UTSW	10	70001974	missense	possibly damaging	0.86
R4489:Ank3	UTSW	10	69898256	missense	probably damaging	1.00
R4492:Ank3	UTSW	10	69808925	missense	probably damaging	1.00
R4508:Ank3	UTSW	10	69892370	missense	probably damaging	1.00
R4561:Ank3	UTSW	10	70002018	missense	probably damaging	0.99
R4724:Ank3	UTSW	10	69706858	missense	probably benign
R4751:Ank3	UTSW	10	69986206	missense	probably benign	0.19
R4790:Ank3	UTSW	10	69988151	nonsense	probably null
R4795:Ank3	UTSW	10	69858265	missense	probably benign	0.36
R4921:Ank3	UTSW	10	70002109	missense	probably damaging	1.00
R4932:Ank3	UTSW	10	69898223	splice site	probably null
R4935:Ank3	UTSW	10	69976203	missense	probably damaging	0.99
R4946:Ank3	UTSW	10	69898117	missense	probably damaging	1.00
R5174:Ank3	UTSW	10	69892379	missense	probably damaging	0.99
R5208:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R5248:Ank3	UTSW	10	69987108	missense	probably benign	0.00
R5255:Ank3	UTSW	10	69885200	missense	probably damaging	1.00
R5307:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R5308:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R5373:Ank3	UTSW	10	69953476	splice site	probably null
R5374:Ank3	UTSW	10	69953476	splice site	probably null
R5502:Ank3	UTSW	10	69920461	missense	probably benign	0.12
R5508:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R5509:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R5510:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R5538:Ank3	UTSW	10	69987427	missense	probably damaging	1.00
R5664:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R5665:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R5682:Ank3	UTSW	10	69893517	missense	probably damaging	1.00
R5834:Ank3	UTSW	10	69822257	missense	probably damaging	1.00
R5881:Ank3	UTSW	10	69986830	missense	probably benign	0.31
R5914:Ank3	UTSW	10	69992944	intron	probably benign
R5940:Ank3	UTSW	10	69920486	missense	probably benign	0.00
R5952:Ank3	UTSW	10	69986463	missense	probably benign	0.07
R5963:Ank3	UTSW	10	69987226	nonsense	probably null
R6075:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R6076:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R6077:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R6081:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R6092:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R6118:Ank3	UTSW	10	69994401	missense	probably damaging	0.98
R6135:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R6175:Ank3	UTSW	10	69927727	missense	probably damaging	1.00
R6248:Ank3	UTSW	10	69973850	missense	probably benign	0.10
R6249:Ank3	UTSW	10	69823076	critical splice acceptor site	probably null
R6273:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R6274:Ank3	UTSW	10	70002565	missense	possibly damaging	0.91
R6290:Ank3	UTSW	10	69991368	intron	probably benign
R6298:Ank3	UTSW	10	69850176	missense	probably damaging	1.00
R6349:Ank3	UTSW	10	69979439	missense	probably damaging	1.00
R6366:Ank3	UTSW	10	69999358	missense	probably damaging	1.00
R6371:Ank3	UTSW	10	69808879	missense	probably damaging	1.00
R6459:Ank3	UTSW	10	69991747	intron	probably benign
R6489:Ank3	UTSW	10	69991629	missense	probably benign	0.00
R6491:Ank3	UTSW	10	69991629	missense	probably benign	0.00
R6499:Ank3	UTSW	10	69991744	intron	probably benign
R6520:Ank3	UTSW	10	69988387	missense	probably damaging	1.00
R6521:Ank3	UTSW	10	69992766	intron	probably benign
R6535:Ank3	UTSW	10	69877854	missense	probably damaging	1.00
R6548:Ank3	UTSW	10	69892410	missense	probably damaging	1.00
R6587:Ank3	UTSW	10	69990152	intron	probably benign
R6624:Ank3	UTSW	10	69904468	missense	possibly damaging	0.66
R6722:Ank3	UTSW	10	69990244	intron	probably benign
R6729:Ank3	UTSW	10	69808925	missense	probably damaging	1.00
R6731:Ank3	UTSW	10	70014028	missense	possibly damaging	0.70
R6742:Ank3	UTSW	10	69991582	intron	probably benign
R6788:Ank3	UTSW	10	70004723	missense	probably damaging	1.00
R6846:Ank3	UTSW	10	69824349	missense	probably damaging	1.00
R6933:Ank3	UTSW	10	69904212	missense	probably damaging	1.00
R7034:Ank3	UTSW	10	69999379	missense	probably damaging	1.00
R7036:Ank3	UTSW	10	69999379	missense	probably damaging	1.00
R7132:Ank3	UTSW	10	69989914	missense
R7171:Ank3	UTSW	10	69992481	missense
R7241:Ank3	UTSW	10	69706814	start codon destroyed	probably null	0.11
R7386:Ank3	UTSW	10	69822249	missense	unknown
R7445:Ank3	UTSW	10	69992124	missense
R7452:Ank3	UTSW	10	69899051	missense	possibly damaging	0.53
R7492:Ank3	UTSW	10	69882527	missense	unknown
R7494:Ank3	UTSW	10	69988926	missense
R7512:Ank3	UTSW	10	69990861	missense
R7543:Ank3	UTSW	10	69951016	missense	possibly damaging	0.96
R7577:Ank3	UTSW	10	69992572	missense
R7610:Ank3	UTSW	10	69986422	missense
R7673:Ank3	UTSW	10	69990501	missense
R7682:Ank3	UTSW	10	69988235	missense	possibly damaging	0.53
R7814:Ank3	UTSW	10	69986904	missense
R7835:Ank3	UTSW	10	69987727	missense
R7843:Ank3	UTSW	10	69986958	missense	probably benign	0.01
R7891:Ank3	UTSW	10	69988309	missense	probably damaging	1.00
R8109:Ank3	UTSW	10	69990318	missense
R8175:Ank3	UTSW	10	69893509	missense	unknown
R8210:Ank3	UTSW	10	69976095	missense	possibly damaging	0.72
R8211:Ank3	UTSW	10	69867398	missense	unknown
R8299:Ank3	UTSW	10	69976151	missense	probably damaging	0.98
R8302:Ank3	UTSW	10	70004980	missense	possibly damaging	0.73
R8516:Ank3	UTSW	10	69927729	nonsense	probably null
R8543:Ank3	UTSW	10	70002436	missense	probably damaging	1.00
R8549:Ank3	UTSW	10	69982182	missense	possibly damaging	0.74
Z1176:Ank3	UTSW	10	69932474	missense	possibly damaging	0.96
Z1176:Ank3	UTSW	10	69951010	missense	possibly damaging	0.85
Z1176:Ank3	UTSW	10	69991215	missense

Predicted Primers

PCR Primer
(F):5'- GTGCCTTTATCTGCTGAGGC -3'
(R):5'- GGCACGTTAAATTTCATAATGGGC -3'

Sequencing Primer
(F):5'- TATCTGCTGAGGCGCAGTC -3'
(R):5'- GGCTTATGAAATTTCTCTGTAGGC -3'

Posted On

2014-11-12