Mutagenetix > Incidental Mutation

Incidental Mutation 'R8516:Ank3'

656161

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

067848-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69398773-70027438 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 69927729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 884 (Y884*)

Ref Sequence

ENSEMBL: ENSMUSP00000138326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047061] [ENSMUST00000054167] [ENSMUST00000092431] [ENSMUST00000092432] [ENSMUST00000092433] [ENSMUST00000092434] [ENSMUST00000181974] [ENSMUST00000182029] [ENSMUST00000182155] [ENSMUST00000182269] [ENSMUST00000182437] [ENSMUST00000182884] [ENSMUST00000182439] [ENSMUST00000182683] [ENSMUST00000182692] [ENSMUST00000182795] [ENSMUST00000182972] [ENSMUST00000182992] [ENSMUST00000183074] [ENSMUST00000183148] [ENSMUST00000183169] [ENSMUST00000183261] [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 null
Transcript: ENSMUST00000054167
AA Change: Y845*

SMART Domains

Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: Y845*

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 null
Transcript: ENSMUST00000092431
AA Change: Y863*

SMART Domains

Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: Y863*

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 null
Transcript: ENSMUST00000092432
AA Change: Y866*

SMART Domains

Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: Y866*

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 null
Transcript: ENSMUST00000092433
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000090089
Gene: ENSMUSG00000069601
AA Change: Y17*

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 null
Transcript: ENSMUST00000092434
AA Change: Y884*

SMART Domains

Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: Y884*

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 null
Transcript: ENSMUST00000181974
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000138285
Gene: ENSMUSG00000069601
AA Change: Y17*

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 null
Transcript: ENSMUST00000182029
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000138337
Gene: ENSMUSG00000069601
AA Change: Y17*

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 null
Transcript: ENSMUST00000182155
AA Change: Y845*

SMART Domains

Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
AA Change: Y845*

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 null
Transcript: ENSMUST00000182269
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000138123
Gene: ENSMUSG00000069601
AA Change: Y17*

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 null
Transcript: ENSMUST00000182437
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000138586
Gene: ENSMUSG00000069601
AA Change: Y17*

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 null
Transcript: ENSMUST00000182884
AA Change: Y884*

SMART Domains

Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: Y884*

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: 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 null
Transcript: ENSMUST00000182683
AA Change: Y43*

SMART Domains

Protein: ENSMUSP00000138375
Gene: ENSMUSG00000069601
AA Change: Y43*

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
low complexity region	65	82	N/A	INTRINSIC
ZU5	153	257	2.75e-57	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000182692
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000138623
Gene: ENSMUSG00000069601
AA Change: Y17*

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 null
Transcript: ENSMUST00000182795
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000138413
Gene: ENSMUSG00000069601
AA Change: Y17*

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 null
Transcript: ENSMUST00000182972
AA Change: Y104*

SMART Domains

Protein: ENSMUSP00000138481
Gene: ENSMUSG00000069601
AA Change: Y104*

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 null
Transcript: ENSMUST00000182992
AA Change: Y891*

SMART Domains

Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: Y891*

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 null
Transcript: ENSMUST00000183074
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000138671
Gene: ENSMUSG00000069601
AA Change: Y17*

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 null
Transcript: ENSMUST00000183148
AA Change: Y845*

SMART Domains

Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: Y845*

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 null
Transcript: ENSMUST00000183169
AA Change: Y845*

SMART Domains

Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
AA Change: Y845*

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 null
Transcript: ENSMUST00000183261
AA Change: Y17*

SMART Domains

Protein: ENSMUSP00000138095
Gene: ENSMUSG00000069601
AA Change: Y17*

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 null
Transcript: ENSMUST00000218680
AA Change: Y877*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373 (GRCm38)	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899 (GRCm38)	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543 (GRCm38)	Y1005C	probably damaging	Het
Arhgap28	T	C	17: 67,873,073 (GRCm38)	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472 (GRCm38)	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971 (GRCm38)	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867 (GRCm38)	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781 (GRCm38)	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013 (GRCm38)	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696 (GRCm38)	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261 (GRCm38)	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065 (GRCm38)	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365 (GRCm38)	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607 (GRCm38)	I43F	possibly damaging	Het
Dpp8	C	A	9: 65,078,009 (GRCm38)	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,881,162 (GRCm38)	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379 (GRCm38)	N56S	probably damaging	Het
Emilin1	G	A	5: 30,917,171 (GRCm38)	R252H	probably damaging	Het
Exd1	A	T	2: 119,520,073 (GRCm38)	L569Q	probably damaging	Het
Gm498	T	A	7: 143,897,274 (GRCm38)	I342N	probably damaging	Het
Gpn2	C	T	4: 133,584,831 (GRCm38)	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987 (GRCm38)	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584 (GRCm38)	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067 (GRCm38)	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010 (GRCm38)	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570 (GRCm38)	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283 (GRCm38)	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769 (GRCm38)	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662 (GRCm38)	M462V	probably damaging	Het
Pde3b	A	T	7: 114,526,849 (GRCm38)	M773L	probably benign	Het
Peak1	T	C	9: 56,260,000 (GRCm38)	S215G	probably damaging	Het
Pgm5	T	A	19: 24,815,710 (GRCm38)	M331L	probably benign	Het
Piwil2	A	G	14: 70,420,739 (GRCm38)	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307 (GRCm38)	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402 (GRCm38)	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,877,768 (GRCm38)	I212N	probably damaging	Het
Prom1	T	C	5: 44,007,099 (GRCm38)	K714R	probably benign	Het
Psip1	C	T	4: 83,466,715 (GRCm38)	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335 (GRCm38)	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134 (GRCm38)	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103 (GRCm38)	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633 (GRCm38)	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895 (GRCm38)	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396 (GRCm38)	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320 (GRCm38)	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404 (GRCm38)	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748 (GRCm38)	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971 (GRCm38)	F711L	unknown	Het
Utrn	T	A	10: 12,486,510 (GRCm38)	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124 (GRCm38)	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613 (GRCm38)	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158 (GRCm38)	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880 (GRCm38)	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391 (GRCm38)	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,119,839 (GRCm38)	S411C	probably damaging	Het
Zfp112	G	A	7: 24,123,964 (GRCm38)	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543 (GRCm38)	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,345,355 (GRCm38)	Y75F	possibly damaging	Het

Other mutations in Ank3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Ank3	APN	10	69,982,205 (GRCm38)	splice site	probably benign
IGL00578:Ank3	APN	10	70,002,394 (GRCm38)	missense	possibly damaging	0.95
IGL00851:Ank3	APN	10	69,874,833 (GRCm38)	missense	probably damaging	0.99
IGL01067:Ank3	APN	10	69,850,196 (GRCm38)	missense	probably damaging	1.00
IGL01483:Ank3	APN	10	69,874,809 (GRCm38)	missense	probably damaging	1.00
IGL01549:Ank3	APN	10	69,932,420 (GRCm38)	missense	probably damaging	1.00
IGL01576:Ank3	APN	10	69,980,291 (GRCm38)	missense	probably damaging	1.00
IGL01601:Ank3	APN	10	70,004,725 (GRCm38)	missense	possibly damaging	0.87
IGL02047:Ank3	APN	10	69,892,494 (GRCm38)	missense	possibly damaging	0.94
IGL02088:Ank3	APN	10	69,999,373 (GRCm38)	missense	probably damaging	1.00
IGL02159:Ank3	APN	10	69,808,892 (GRCm38)	missense	probably damaging	1.00
IGL02249:Ank3	APN	10	69,882,370 (GRCm38)	missense	probably damaging	1.00
IGL02942:Ank3	APN	10	69,973,877 (GRCm38)	missense	probably damaging	1.00
IGL02979:Ank3	APN	10	70,002,099 (GRCm38)	missense	probably benign	0.01
IGL03379:Ank3	APN	10	69,973,772 (GRCm38)	missense	probably damaging	1.00
PIT4495001:Ank3	UTSW	10	69,993,072 (GRCm38)	missense
R0011:Ank3	UTSW	10	69,979,451 (GRCm38)	splice site	probably benign
R0011:Ank3	UTSW	10	69,979,451 (GRCm38)	splice site	probably benign
R0172:Ank3	UTSW	10	69,976,058 (GRCm38)	missense	probably damaging	1.00
R0315:Ank3	UTSW	10	70,002,517 (GRCm38)	missense	probably damaging	0.98
R0480:Ank3	UTSW	10	69,879,926 (GRCm38)	missense	probably damaging	0.96
R0485:Ank3	UTSW	10	69,882,544 (GRCm38)	missense	possibly damaging	0.89
R0511:Ank3	UTSW	10	69,882,368 (GRCm38)	missense	probably damaging	1.00
R1148:Ank3	UTSW	10	69,882,539 (GRCm38)	missense	probably damaging	1.00
R1148:Ank3	UTSW	10	69,882,539 (GRCm38)	missense	probably damaging	1.00
R1165:Ank3	UTSW	10	69,898,302 (GRCm38)	missense	possibly damaging	0.90
R1186:Ank3	UTSW	10	69,867,460 (GRCm38)	missense	probably damaging	1.00
R1257:Ank3	UTSW	10	69,874,835 (GRCm38)	nonsense	probably null
R1300:Ank3	UTSW	10	70,004,665 (GRCm38)	missense	probably benign	0.03
R1391:Ank3	UTSW	10	69,534,280 (GRCm38)	missense	possibly damaging	0.96
R1549:Ank3	UTSW	10	70,001,982 (GRCm38)	missense	probably benign	0.18
R1586:Ank3	UTSW	10	69,877,878 (GRCm38)	missense	probably damaging	0.98
R1619:Ank3	UTSW	10	69,879,975 (GRCm38)	missense	probably damaging	1.00
R1643:Ank3	UTSW	10	69,884,802 (GRCm38)	missense	probably benign	0.00
R1874:Ank3	UTSW	10	69,898,083 (GRCm38)	missense	probably damaging	1.00
R1884:Ank3	UTSW	10	70,015,592 (GRCm38)	missense	possibly damaging	0.53
R1901:Ank3	UTSW	10	69,822,337 (GRCm38)	missense	probably damaging	1.00
R1986:Ank3	UTSW	10	69,867,428 (GRCm38)	missense	probably damaging	1.00
R2051:Ank3	UTSW	10	69,898,090 (GRCm38)	missense	probably damaging	0.97
R2273:Ank3	UTSW	10	69,950,942 (GRCm38)	splice site	probably null
R2274:Ank3	UTSW	10	69,950,942 (GRCm38)	splice site	probably null
R2421:Ank3	UTSW	10	69,982,204 (GRCm38)	splice site	probably benign
R2434:Ank3	UTSW	10	70,002,118 (GRCm38)	missense	probably damaging	1.00
R2969:Ank3	UTSW	10	69,994,395 (GRCm38)	missense	probably damaging	1.00
R3426:Ank3	UTSW	10	69,706,894 (GRCm38)	missense	probably benign
R3885:Ank3	UTSW	10	69,899,036 (GRCm38)	missense	probably damaging	1.00
R3936:Ank3	UTSW	10	69,879,989 (GRCm38)	nonsense	probably null
R4258:Ank3	UTSW	10	70,004,762 (GRCm38)	missense	probably benign	0.33
R4320:Ank3	UTSW	10	69,904,246 (GRCm38)	missense	possibly damaging	0.70
R4434:Ank3	UTSW	10	69,987,070 (GRCm38)	missense	probably damaging	0.99
R4435:Ank3	UTSW	10	69,987,070 (GRCm38)	missense	probably damaging	0.99
R4486:Ank3	UTSW	10	70,001,974 (GRCm38)	missense	possibly damaging	0.86
R4489:Ank3	UTSW	10	69,898,256 (GRCm38)	missense	probably damaging	1.00
R4492:Ank3	UTSW	10	69,808,925 (GRCm38)	missense	probably damaging	1.00
R4508:Ank3	UTSW	10	69,892,370 (GRCm38)	missense	probably damaging	1.00
R4561:Ank3	UTSW	10	70,002,018 (GRCm38)	missense	probably damaging	0.99
R4724:Ank3	UTSW	10	69,706,858 (GRCm38)	missense	probably benign
R4751:Ank3	UTSW	10	69,986,206 (GRCm38)	missense	probably benign	0.19
R4790:Ank3	UTSW	10	69,988,151 (GRCm38)	nonsense	probably null
R4795:Ank3	UTSW	10	69,858,265 (GRCm38)	missense	probably benign	0.36
R4921:Ank3	UTSW	10	70,002,109 (GRCm38)	missense	probably damaging	1.00
R4932:Ank3	UTSW	10	69,898,223 (GRCm38)	splice site	probably null
R4935:Ank3	UTSW	10	69,976,203 (GRCm38)	missense	probably damaging	0.99
R4946:Ank3	UTSW	10	69,898,117 (GRCm38)	missense	probably damaging	1.00
R5174:Ank3	UTSW	10	69,892,379 (GRCm38)	missense	probably damaging	0.99
R5208:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R5248:Ank3	UTSW	10	69,987,108 (GRCm38)	missense	probably benign	0.00
R5255:Ank3	UTSW	10	69,885,200 (GRCm38)	missense	probably damaging	1.00
R5307:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R5308:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R5373:Ank3	UTSW	10	69,953,476 (GRCm38)	splice site	probably null
R5374:Ank3	UTSW	10	69,953,476 (GRCm38)	splice site	probably null
R5502:Ank3	UTSW	10	69,920,461 (GRCm38)	missense	probably benign	0.12
R5508:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R5509:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R5510:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R5538:Ank3	UTSW	10	69,987,427 (GRCm38)	missense	probably damaging	1.00
R5664:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R5665:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R5682:Ank3	UTSW	10	69,893,517 (GRCm38)	missense	probably damaging	1.00
R5834:Ank3	UTSW	10	69,822,257 (GRCm38)	missense	probably damaging	1.00
R5881:Ank3	UTSW	10	69,986,830 (GRCm38)	missense	probably benign	0.31
R5914:Ank3	UTSW	10	69,992,944 (GRCm38)	intron	probably benign
R5940:Ank3	UTSW	10	69,920,486 (GRCm38)	missense	probably benign	0.00
R5952:Ank3	UTSW	10	69,986,463 (GRCm38)	missense	probably benign	0.07
R5963:Ank3	UTSW	10	69,987,226 (GRCm38)	nonsense	probably null
R6075:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R6076:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R6077:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R6081:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R6092:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R6118:Ank3	UTSW	10	69,994,401 (GRCm38)	missense	probably damaging	0.98
R6135:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R6175:Ank3	UTSW	10	69,927,727 (GRCm38)	missense	probably damaging	1.00
R6248:Ank3	UTSW	10	69,973,850 (GRCm38)	missense	probably benign	0.10
R6249:Ank3	UTSW	10	69,823,076 (GRCm38)	critical splice acceptor site	probably null
R6273:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R6274:Ank3	UTSW	10	70,002,565 (GRCm38)	missense	possibly damaging	0.91
R6290:Ank3	UTSW	10	69,991,368 (GRCm38)	intron	probably benign
R6298:Ank3	UTSW	10	69,850,176 (GRCm38)	missense	probably damaging	1.00
R6349:Ank3	UTSW	10	69,979,439 (GRCm38)	missense	probably damaging	1.00
R6366:Ank3	UTSW	10	69,999,358 (GRCm38)	missense	probably damaging	1.00
R6371:Ank3	UTSW	10	69,808,879 (GRCm38)	missense	probably damaging	1.00
R6459:Ank3	UTSW	10	69,991,747 (GRCm38)	intron	probably benign
R6489:Ank3	UTSW	10	69,991,629 (GRCm38)	missense	probably benign	0.00
R6491:Ank3	UTSW	10	69,991,629 (GRCm38)	missense	probably benign	0.00
R6499:Ank3	UTSW	10	69,991,744 (GRCm38)	intron	probably benign
R6520:Ank3	UTSW	10	69,988,387 (GRCm38)	missense	probably damaging	1.00
R6521:Ank3	UTSW	10	69,992,766 (GRCm38)	intron	probably benign
R6535:Ank3	UTSW	10	69,877,854 (GRCm38)	missense	probably damaging	1.00
R6548:Ank3	UTSW	10	69,892,410 (GRCm38)	missense	probably damaging	1.00
R6587:Ank3	UTSW	10	69,990,152 (GRCm38)	intron	probably benign
R6624:Ank3	UTSW	10	69,904,468 (GRCm38)	missense	possibly damaging	0.66
R6722:Ank3	UTSW	10	69,990,244 (GRCm38)	intron	probably benign
R6729:Ank3	UTSW	10	69,808,925 (GRCm38)	missense	probably damaging	1.00
R6731:Ank3	UTSW	10	70,014,028 (GRCm38)	missense	possibly damaging	0.70
R6742:Ank3	UTSW	10	69,991,582 (GRCm38)	intron	probably benign
R6788:Ank3	UTSW	10	70,004,723 (GRCm38)	missense	probably damaging	1.00
R6846:Ank3	UTSW	10	69,824,349 (GRCm38)	missense	probably damaging	1.00
R6933:Ank3	UTSW	10	69,904,212 (GRCm38)	missense	probably damaging	1.00
R7034:Ank3	UTSW	10	69,999,379 (GRCm38)	missense	probably damaging	1.00
R7036:Ank3	UTSW	10	69,999,379 (GRCm38)	missense	probably damaging	1.00
R7132:Ank3	UTSW	10	69,989,914 (GRCm38)	missense
R7171:Ank3	UTSW	10	69,992,481 (GRCm38)	missense
R7241:Ank3	UTSW	10	69,706,814 (GRCm38)	start codon destroyed	probably null	0.11
R7386:Ank3	UTSW	10	69,822,249 (GRCm38)	missense	unknown
R7445:Ank3	UTSW	10	69,992,124 (GRCm38)	missense
R7452:Ank3	UTSW	10	69,899,051 (GRCm38)	missense	possibly damaging	0.53
R7492:Ank3	UTSW	10	69,882,527 (GRCm38)	missense	unknown
R7494:Ank3	UTSW	10	69,988,926 (GRCm38)	missense
R7512:Ank3	UTSW	10	69,990,861 (GRCm38)	missense
R7543:Ank3	UTSW	10	69,951,016 (GRCm38)	missense	possibly damaging	0.96
R7577:Ank3	UTSW	10	69,992,572 (GRCm38)	missense
R7610:Ank3	UTSW	10	69,986,422 (GRCm38)	missense
R7673:Ank3	UTSW	10	69,990,501 (GRCm38)	missense
R7682:Ank3	UTSW	10	69,988,235 (GRCm38)	missense	possibly damaging	0.53
R7814:Ank3	UTSW	10	69,986,904 (GRCm38)	missense
R7835:Ank3	UTSW	10	69,987,727 (GRCm38)	missense
R7843:Ank3	UTSW	10	69,986,958 (GRCm38)	missense	probably benign	0.01
R7891:Ank3	UTSW	10	69,988,309 (GRCm38)	missense	probably damaging	1.00
R8109:Ank3	UTSW	10	69,990,318 (GRCm38)	missense
R8175:Ank3	UTSW	10	69,893,509 (GRCm38)	missense	unknown
R8210:Ank3	UTSW	10	69,976,095 (GRCm38)	missense	possibly damaging	0.72
R8211:Ank3	UTSW	10	69,867,398 (GRCm38)	missense	unknown
R8299:Ank3	UTSW	10	69,976,151 (GRCm38)	missense	probably damaging	0.98
R8302:Ank3	UTSW	10	70,004,980 (GRCm38)	missense	possibly damaging	0.73
R8543:Ank3	UTSW	10	70,002,436 (GRCm38)	missense	probably damaging	1.00
R8549:Ank3	UTSW	10	69,982,182 (GRCm38)	missense	possibly damaging	0.74
R8726:Ank3	UTSW	10	69,987,254 (GRCm38)	missense
R8729:Ank3	UTSW	10	70,002,598 (GRCm38)	missense	possibly damaging	0.85
R8735:Ank3	UTSW	10	69,986,955 (GRCm38)	missense	probably benign	0.24
R8751:Ank3	UTSW	10	69,926,019 (GRCm38)	intron	probably benign
R8788:Ank3	UTSW	10	69,882,426 (GRCm38)	missense	unknown
R8875:Ank3	UTSW	10	69,824,403 (GRCm38)	missense	unknown
R8919:Ank3	UTSW	10	70,004,841 (GRCm38)	missense	possibly damaging	0.72
R8932:Ank3	UTSW	10	69,824,462 (GRCm38)	missense	probably benign	0.00
R9053:Ank3	UTSW	10	69,986,559 (GRCm38)	missense
R9064:Ank3	UTSW	10	69,986,355 (GRCm38)	missense
R9084:Ank3	UTSW	10	69,951,049 (GRCm38)	missense	probably benign	0.12
R9160:Ank3	UTSW	10	70,002,474 (GRCm38)	missense	unknown
R9275:Ank3	UTSW	10	69,986,832 (GRCm38)	missense	probably damaging	1.00
R9280:Ank3	UTSW	10	69,982,191 (GRCm38)	missense	possibly damaging	0.83
R9300:Ank3	UTSW	10	69,871,042 (GRCm38)	missense	unknown
R9302:Ank3	UTSW	10	69,926,019 (GRCm38)	intron	probably benign
R9327:Ank3	UTSW	10	69,976,256 (GRCm38)	critical splice donor site	probably null
R9336:Ank3	UTSW	10	69,973,748 (GRCm38)	missense	probably benign	0.00
R9345:Ank3	UTSW	10	69,926,069 (GRCm38)	intron	probably benign
R9368:Ank3	UTSW	10	69,987,499 (GRCm38)	missense
R9406:Ank3	UTSW	10	69,809,181 (GRCm38)	missense	unknown
R9491:Ank3	UTSW	10	70,002,509 (GRCm38)	critical splice acceptor site	probably null
R9573:Ank3	UTSW	10	69,956,147 (GRCm38)	nonsense	probably null
R9674:Ank3	UTSW	10	69,988,719 (GRCm38)	missense
R9710:Ank3	UTSW	10	69,993,240 (GRCm38)	missense
R9720:Ank3	UTSW	10	69,989,505 (GRCm38)	missense
R9767:Ank3	UTSW	10	69,987,969 (GRCm38)	missense	probably damaging	1.00
R9800:Ank3	UTSW	10	69,898,127 (GRCm38)	missense	unknown
Z1176:Ank3	UTSW	10	69,991,215 (GRCm38)	missense
Z1176:Ank3	UTSW	10	69,951,010 (GRCm38)	missense	possibly damaging	0.85
Z1176:Ank3	UTSW	10	69,932,474 (GRCm38)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATGGGGAACTAACCTCTCCC -3'
(R):5'- GGAATGATGCTGGCTCATGAC -3'

Sequencing Primer
(F):5'- GGAACTAACCTCTCCCTCCACTG -3'
(R):5'- AGCCTACGTAACCTTCTG -3'

Posted On

2020-10-20