Mutagenetix > Incidental Mutations

Incidental Mutation 'R0485:Ank3'

42218

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

038684-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.834) question?

Stock #

R0485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69398773-70027438 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69882544 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 542 (S542T)

Ref Sequence

ENSEMBL: ENSMUSP00000138770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047061] [ENSMUST00000054167] [ENSMUST00000092431] [ENSMUST00000092432] [ENSMUST00000092434] [ENSMUST00000182155] [ENSMUST00000182439] [ENSMUST00000182884] [ENSMUST00000182992] [ENSMUST00000183148] [ENSMUST00000183169] [ENSMUST00000218680]

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

unknown
Transcript: ENSMUST00000054167
AA Change: S542T

SMART Domains

Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: S542T

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
AA Change: S542T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: S542T

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
AA Change: S542T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: S542T

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

unknown
Transcript: ENSMUST00000092434
AA Change: S542T

SMART Domains

Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: S542T

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

unknown
Transcript: ENSMUST00000182155
AA Change: S542T

SMART Domains

Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
AA Change: S542T

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: 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: ENSMUST00000182474

Predicted Effect

unknown
Transcript: ENSMUST00000182884
AA Change: S542T

SMART Domains

Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: S542T

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

possibly damaging
Transcript: ENSMUST00000182992
AA Change: S567T

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: S567T

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

possibly damaging
Transcript: ENSMUST00000183148
AA Change: S542T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: S542T

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
AA Change: S542T

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
AA Change: S542T

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

possibly damaging
Transcript: ENSMUST00000218680
AA Change: S553T

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,907,647	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,604,012		probably null	Het
Acot11	G	A	4: 106,762,027	R184C	probably damaging	Het
Adgre5	A	T	8: 83,731,998	I133N	probably damaging	Het
Afap1	A	T	5: 35,951,003	Q231L	probably damaging	Het
Alg12	T	C	15: 88,811,427	T289A	probably benign	Het
Ankmy2	G	A	12: 36,182,390	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,672,302	A456V	probably benign	Het
Atg4c	G	A	4: 99,224,482	V289I	probably benign	Het
Bbs7	A	T	3: 36,602,873	Y269N	probably damaging	Het
Bcas3	T	A	11: 85,495,850	D370E	probably damaging	Het
Bicc1	T	G	10: 70,925,315	E955A	probably damaging	Het
Bok	T	C	1: 93,689,277	F115S	probably damaging	Het
Caap1	A	T	4: 94,550,521		probably null	Het
Cacna2d3	T	A	14: 29,534,519	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,370,091	D115V	probably benign	Het
Car7	A	T	8: 104,543,538	M57L	probably benign	Het
Casq1	G	T	1: 172,210,390		probably benign	Het
Cep290	A	T	10: 100,549,344	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,123,629	N14K	probably damaging	Het
Col16a1	G	T	4: 130,090,497		probably benign	Het
Col5a1	T	C	2: 27,990,097		probably benign	Het
Col5a2	A	T	1: 45,378,482	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,782,708	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,484,871	I220F	probably damaging	Het
Cpb1	A	T	3: 20,275,628	V8E	unknown	Het
Dchs1	C	T	7: 105,772,727	R162H	probably benign	Het
Dhx37	A	G	5: 125,422,231	Y638H	probably benign	Het
Dhx40	T	G	11: 86,771,262		probably benign	Het
Ehd2	T	A	7: 15,952,076	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,070,737		probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Gid8	T	A	2: 180,713,211	Y3*	probably null	Het
Gm10212	A	C	19: 11,570,810		noncoding transcript	Het
Gm4763	C	A	7: 24,722,745	C193F	possibly damaging	Het
Gm597	G	T	1: 28,778,142	Q270K	probably damaging	Het
Gm960	A	T	19: 4,658,414	I350N	probably damaging	Het
Grin3b	T	A	10: 79,974,056	N465K	possibly damaging	Het
Hist1h1d	A	T	13: 23,555,750	K221*	probably null	Het
Htr4	A	T	18: 62,428,154	N162I	probably damaging	Het
Itga3	T	C	11: 95,061,970	D325G	probably benign	Het
Itpr3	T	G	17: 27,111,929	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,394,982	V251I	probably benign	Het
Kcnn2	A	T	18: 45,560,148	I264L	probably benign	Het
Klhl41	T	C	2: 69,671,256	Y354H	probably damaging	Het
Klra6	T	C	6: 130,023,638	I68V	probably benign	Het
Letm2	G	T	8: 25,592,558	P178Q	probably damaging	Het
Lrmp	T	C	6: 145,165,212	C248R	probably damaging	Het
Mbtps1	A	T	8: 119,522,601		probably benign	Het
Mecom	C	T	3: 29,980,972		probably benign	Het
Mrps5	T	A	2: 127,591,825	S45T	possibly damaging	Het
Msra	T	A	14: 64,440,761	I29F	possibly damaging	Het
Mup5	T	C	4: 61,832,992		probably null	Het
Myo1a	T	C	10: 127,719,242		probably benign	Het
Myrip	C	A	9: 120,441,377	N564K	probably benign	Het
Naa20	T	A	2: 145,915,672	D148E	probably damaging	Het
Naga	T	G	15: 82,336,755		probably benign	Het
Npc1	A	G	18: 12,213,446	V231A	probably benign	Het
Nphs1	T	C	7: 30,467,515	F716L	probably benign	Het
Olfr284	T	C	15: 98,340,929	H20R	probably benign	Het
Parn	G	C	16: 13,654,435		probably benign	Het
Polk	A	T	13: 96,483,764	C664S	probably benign	Het
Prkar2b	A	G	12: 31,976,035		probably benign	Het
Prkdc	A	G	16: 15,833,740	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,511,255	M362K	probably damaging	Het
Prob1	T	C	18: 35,653,825	T459A	possibly damaging	Het
Rttn	C	T	18: 89,090,419		probably benign	Het
Scn1a	T	C	2: 66,273,925	M1664V	probably damaging	Het
Sez6	T	A	11: 77,953,813	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,702,012		probably benign	Het
Shkbp1	C	T	7: 27,348,581	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,647,993	F539I	probably damaging	Het
Sptan1	T	C	2: 30,013,848		probably benign	Het
Ssc5d	C	T	7: 4,937,471	T861M	probably damaging	Het
Tbx5	A	T	5: 119,883,458	M510L	probably benign	Het
Tdp1	A	G	12: 99,909,842	T351A	probably benign	Het
Tmc8	T	A	11: 117,792,078		probably benign	Het
Tmco5	T	A	2: 116,890,107	D205E	probably benign	Het
Tmprss2	T	C	16: 97,571,994		probably benign	Het
Tph1	T	A	7: 46,650,024	K364N	probably benign	Het
Trim24	T	C	6: 37,957,066	L648P	probably damaging	Het
Trmt6	C	A	2: 132,809,030		probably benign	Het
Ube2i	A	T	17: 25,269,285		probably benign	Het
Vcan	A	C	13: 89,704,660	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,488,690	Y186C	probably damaging	Het
Wars	C	A	12: 108,875,157	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,338,945		probably benign	Het
Zbtb24	T	A	10: 41,464,536	S543T	probably damaging	Het
Zfp91	A	G	19: 12,775,989		probably benign	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
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
R2421:Ank3	UTSW	10	69982204	splice site	probably benign
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
R8726:Ank3	UTSW	10	69987254	missense	not run
R8729:Ank3	UTSW	10	70002598	missense	not run
R8735:Ank3	UTSW	10	69986955	missense	not run
R8751:Ank3	UTSW	10	69926019
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'- TTGGGGCCATTTCTCGTAAGGCAC -3'
(R):5'- TCTCTGCCAAGCAAGACTTTGCTG -3'

Sequencing Primer
(F):5'- TTGCATCTAGGATGACCAGACTC -3'
(R):5'- CTGGCGAGGGCCATGAC -3'

Posted On

2013-05-23