Mutagenetix > Incidental Mutations

Incidental Mutation 'R0511:Ank3'

46930

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

038705-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R0511 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

69398773-70027438 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69882368 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 483 (Q483L)

Ref Sequence

ENSEMBL: ENSMUSP00000138348 (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: Q483L

SMART Domains

Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: Q483L

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 damaging
Transcript: ENSMUST00000092431
AA Change: Q483L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: Q483L

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

possibly damaging
Transcript: ENSMUST00000092432
AA Change: Q483L

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: Q483L

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: Q483L

SMART Domains

Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: Q483L

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: Q483L

SMART Domains

Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
AA Change: Q483L

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: Q483L

SMART Domains

Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: Q483L

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 damaging
Transcript: ENSMUST00000182992
AA Change: Q508L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: Q508L

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 damaging
Transcript: ENSMUST00000183148
AA Change: Q483L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: Q483L

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 damaging
Transcript: ENSMUST00000183169
AA Change: Q483L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
AA Change: Q483L

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: Q494L

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.2496

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,254,071		probably null	Het
A630095E13Rik	A	T	9: 36,638,577		probably null	Het
Abca13	G	T	11: 9,294,559	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458		probably benign	Het
Adam3	A	T	8: 24,695,315	C456S	probably damaging	Het
AI464131	A	G	4: 41,498,538	F364S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571		probably benign	Het
Anapc4	A	G	5: 52,842,017		probably benign	Het
Ankle2	A	G	5: 110,242,059		probably benign	Het
Ankrd13b	T	A	11: 77,473,288	T150S	possibly damaging	Het
Apeh	A	G	9: 108,087,055	M524T	probably benign	Het
Arl14epl	T	A	18: 46,926,417		probably null	Het
Atg2a	T	C	19: 6,252,539	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218		probably benign	Het
Bbof1	T	A	12: 84,430,271	S512T	probably benign	Het
BC055324	T	C	1: 163,971,843		probably null	Het
C130079G13Rik	A	G	3: 59,936,350	H155R	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,893,296	E124V	probably damaging	Het
Cd84	A	G	1: 171,872,927	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333		probably null	Het
Csmd1	C	T	8: 15,932,529	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038		probably benign	Het
Dach1	A	T	14: 97,901,329	H559Q	possibly damaging	Het
Dennd4c	C	T	4: 86,826,022	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980		probably benign	Het
Fam184a	G	T	10: 53,698,879	H155Q	probably benign	Het
Ganc	G	T	2: 120,448,401	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945		probably benign	Het
Gm9047	G	T	6: 29,478,170		probably benign	Het
Haus5	A	T	7: 30,659,067	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,660,143		probably null	Het
Hr	T	A	14: 70,561,912	C641*	probably null	Het
Itga10	A	G	3: 96,658,174	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607		probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267	T299A	probably benign	Het
Med25	A	G	7: 44,885,078		probably null	Het
Mpg	A	T	11: 32,230,039	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317	D842E	probably benign	Het
Nat2	C	T	8: 67,501,330	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801	E206G	probably benign	Het
Nsd3	G	A	8: 25,678,716	G629D	possibly damaging	Het
Nwd1	G	A	8: 72,682,005	C831Y	probably damaging	Het
Olfr1094	A	G	2: 86,829,606	I285V	probably benign	Het
Olfr584	T	C	7: 103,085,851	I111T	probably damaging	Het
P2ry14	A	G	3: 59,116,028	S4P	possibly damaging	Het
Parp4	A	G	14: 56,635,715		probably benign	Het
Pclo	A	G	5: 14,678,285		probably benign	Het
Pclo	T	C	5: 14,679,398		probably benign	Het
Pcnt	A	T	10: 76,404,595	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216		probably benign	Het
Ptbp2	T	G	3: 119,720,964	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069		probably benign	Het
Rbm6	G	A	9: 107,847,289	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Robo1	T	C	16: 73,013,125		probably null	Het
Samd12	G	A	15: 53,860,171	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,375,240	P864L	probably benign	Het
Senp2	T	C	16: 22,036,570	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	G	A	2: 62,286,862	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860		probably benign	Het
Smg6	T	A	11: 74,929,058	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984		probably null	Het
Sugp1	A	G	8: 70,059,363	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715	N61I	probably benign	Het
Uba6	T	C	5: 86,112,750	Y990C	probably damaging	Het
Vav3	A	G	3: 109,664,440		probably benign	Het
Vmn2r55	C	T	7: 12,671,018	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660	I1023T	possibly 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
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
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'- CCAGGATGCACAGCTTGACAAATTC -3'
(R):5'- ATGATCCAGGAGGAACGCAGCTAC -3'

Sequencing Primer
(F):5'- TTCAGAAGGCATGACCTCTGC -3'
(R):5'- GCAGCTACATCCTCATGCC -3'

Posted On

2013-06-11