Incidental Mutation 'IGL00940:Anks1'
ID 29286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anks1
Ensembl Gene ENSMUSG00000024219
Gene Name ankyrin repeat and SAM domain containing 1
Synonyms Odin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00940
Quality Score
Status
Chromosome 17
Chromosomal Location 28128280-28281749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28276328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1024 (N1024D)
Ref Sequence ENSEMBL: ENSMUSP00000110491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025058] [ENSMUST00000088027] [ENSMUST00000114842]
AlphaFold P59672
Predicted Effect possibly damaging
Transcript: ENSMUST00000025058
AA Change: N1024D

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
AA Change: N1024D

DomainStartEndE-ValueType
low complexity region 22 62 N/A INTRINSIC
ANK 75 104 1.08e-5 SMART
ANK 108 137 7.42e-4 SMART
ANK 165 194 1.88e-5 SMART
ANK 198 227 1.93e-2 SMART
ANK 231 260 1.64e-5 SMART
ANK 263 292 7.71e-2 SMART
low complexity region 419 439 N/A INTRINSIC
low complexity region 633 647 N/A INTRINSIC
SAM 709 778 3.2e-16 SMART
SAM 783 851 4.33e-13 SMART
Blast:PTB 861 919 2e-22 BLAST
PTB 953 1087 3.17e-43 SMART
low complexity region 1126 1135 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000088027
AA Change: N1003D

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
AA Change: N1003D

DomainStartEndE-ValueType
low complexity region 22 62 N/A INTRINSIC
ANK 75 104 1.08e-5 SMART
ANK 108 137 7.42e-4 SMART
ANK 144 173 1.88e-5 SMART
ANK 177 206 1.93e-2 SMART
ANK 210 239 1.64e-5 SMART
ANK 242 271 7.71e-2 SMART
low complexity region 398 418 N/A INTRINSIC
low complexity region 612 626 N/A INTRINSIC
SAM 688 757 3.2e-16 SMART
SAM 762 830 4.33e-13 SMART
Blast:PTB 840 898 2e-22 BLAST
PTB 932 1066 3.17e-43 SMART
low complexity region 1105 1114 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114842
AA Change: N1024D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
AA Change: N1024D

DomainStartEndE-ValueType
low complexity region 22 62 N/A INTRINSIC
ANK 75 104 1.08e-5 SMART
ANK 108 137 7.42e-4 SMART
ANK 165 194 1.88e-5 SMART
ANK 198 227 1.93e-2 SMART
ANK 231 260 1.64e-5 SMART
ANK 263 292 7.71e-2 SMART
low complexity region 419 439 N/A INTRINSIC
low complexity region 633 647 N/A INTRINSIC
SAM 709 778 3.2e-16 SMART
SAM 783 851 4.33e-13 SMART
Blast:PTB 861 919 2e-22 BLAST
PTB 953 1087 3.17e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139173
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cts7 A G 13: 61,504,723 (GRCm39) probably null Het
Dock3 T A 9: 106,788,576 (GRCm39) probably benign Het
Fbxo6 A G 4: 148,230,567 (GRCm39) F232L probably benign Het
Hsd3b6 A T 3: 98,713,940 (GRCm39) F120I probably damaging Het
Il4ra G A 7: 125,168,347 (GRCm39) probably null Het
Irs4 A T X: 140,505,140 (GRCm39) F1019I unknown Het
Klc1 A G 12: 111,753,932 (GRCm39) T464A probably damaging Het
Mical3 T C 6: 120,999,371 (GRCm39) T660A possibly damaging Het
Ndufs7 T A 10: 80,090,955 (GRCm39) V158E probably damaging Het
Nhs T A X: 160,620,226 (GRCm39) N1510I probably damaging Het
Or51e2 A G 7: 102,391,469 (GRCm39) V247A probably damaging Het
Or8k38 T G 2: 86,488,070 (GRCm39) H244P probably damaging Het
Pole2 G A 12: 69,262,134 (GRCm39) T148I probably damaging Het
Pramel1 T A 4: 143,124,126 (GRCm39) L267H probably damaging Het
Rag1 T C 2: 101,472,733 (GRCm39) E803G probably damaging Het
Rassf1 G T 9: 107,435,510 (GRCm39) probably benign Het
Rnf220 T C 4: 117,164,872 (GRCm39) K210R probably benign Het
Setd7 T A 3: 51,440,459 (GRCm39) D194V probably damaging Het
Snd1 T C 6: 28,745,174 (GRCm39) probably benign Het
Spmip9 C A 6: 70,890,372 (GRCm39) R140L probably benign Het
Ssb T A 2: 69,701,179 (GRCm39) probably null Het
Tlr5 T C 1: 182,801,761 (GRCm39) V355A possibly damaging Het
Ush2a A T 1: 188,090,158 (GRCm39) R414* probably null Het
Zfyve26 A G 12: 79,327,674 (GRCm39) S559P probably benign Het
Other mutations in Anks1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Anks1 APN 17 28,277,390 (GRCm39) missense possibly damaging 0.94
IGL00816:Anks1 APN 17 28,278,367 (GRCm39) critical splice donor site probably null
IGL01306:Anks1 APN 17 28,205,227 (GRCm39) missense probably damaging 1.00
IGL01485:Anks1 APN 17 28,270,558 (GRCm39) missense probably damaging 1.00
IGL02059:Anks1 APN 17 28,227,020 (GRCm39) missense possibly damaging 0.64
IGL02220:Anks1 APN 17 28,273,681 (GRCm39) missense probably damaging 0.98
IGL02955:Anks1 APN 17 28,273,291 (GRCm39) missense probably damaging 1.00
IGL03071:Anks1 APN 17 28,227,173 (GRCm39) missense probably benign 0.37
ANU23:Anks1 UTSW 17 28,205,227 (GRCm39) missense probably damaging 1.00
G1Funyon:Anks1 UTSW 17 28,278,554 (GRCm39) intron probably benign
R0389:Anks1 UTSW 17 28,214,926 (GRCm39) missense possibly damaging 0.68
R1221:Anks1 UTSW 17 28,269,616 (GRCm39) missense possibly damaging 0.62
R1523:Anks1 UTSW 17 28,270,629 (GRCm39) splice site probably null
R1639:Anks1 UTSW 17 28,277,280 (GRCm39) missense probably damaging 1.00
R1816:Anks1 UTSW 17 28,205,547 (GRCm39) missense probably damaging 1.00
R1981:Anks1 UTSW 17 28,204,095 (GRCm39) missense probably damaging 1.00
R1982:Anks1 UTSW 17 28,204,095 (GRCm39) missense probably damaging 1.00
R2041:Anks1 UTSW 17 28,227,388 (GRCm39) missense probably damaging 1.00
R2099:Anks1 UTSW 17 28,197,465 (GRCm39) critical splice donor site probably null
R2897:Anks1 UTSW 17 28,204,337 (GRCm39) critical splice donor site probably null
R2965:Anks1 UTSW 17 28,272,879 (GRCm39) missense probably benign
R3624:Anks1 UTSW 17 28,205,262 (GRCm39) missense probably damaging 0.99
R4671:Anks1 UTSW 17 28,270,552 (GRCm39) missense probably benign 0.45
R4786:Anks1 UTSW 17 28,271,704 (GRCm39) missense possibly damaging 0.93
R4871:Anks1 UTSW 17 28,210,351 (GRCm39) missense probably benign 0.00
R4936:Anks1 UTSW 17 28,207,779 (GRCm39) missense probably damaging 1.00
R5175:Anks1 UTSW 17 28,261,562 (GRCm39) missense probably damaging 1.00
R5908:Anks1 UTSW 17 28,214,993 (GRCm39) missense probably damaging 1.00
R5975:Anks1 UTSW 17 28,210,421 (GRCm39) splice site probably null
R6226:Anks1 UTSW 17 28,276,304 (GRCm39) missense probably benign 0.01
R6306:Anks1 UTSW 17 28,269,613 (GRCm39) missense probably damaging 1.00
R6332:Anks1 UTSW 17 28,271,709 (GRCm39) missense probably benign
R6891:Anks1 UTSW 17 28,276,398 (GRCm39) missense probably damaging 1.00
R6995:Anks1 UTSW 17 28,273,273 (GRCm39) missense probably damaging 1.00
R7465:Anks1 UTSW 17 28,273,297 (GRCm39) missense possibly damaging 0.48
R7502:Anks1 UTSW 17 28,227,114 (GRCm39) missense possibly damaging 0.48
R7749:Anks1 UTSW 17 28,257,115 (GRCm39) missense probably damaging 0.96
R7943:Anks1 UTSW 17 28,204,178 (GRCm39) missense probably damaging 1.00
R8005:Anks1 UTSW 17 28,278,341 (GRCm39) missense probably damaging 1.00
R8190:Anks1 UTSW 17 28,205,778 (GRCm39) missense probably benign 0.01
R8301:Anks1 UTSW 17 28,278,554 (GRCm39) intron probably benign
R8476:Anks1 UTSW 17 28,273,292 (GRCm39) missense probably damaging 1.00
R8754:Anks1 UTSW 17 28,214,984 (GRCm39) missense possibly damaging 0.65
R9258:Anks1 UTSW 17 28,277,400 (GRCm39) missense probably damaging 1.00
R9381:Anks1 UTSW 17 28,272,979 (GRCm39) missense probably damaging 1.00
R9386:Anks1 UTSW 17 28,272,880 (GRCm39) missense probably benign 0.03
R9547:Anks1 UTSW 17 28,270,748 (GRCm39) missense probably damaging 1.00
R9710:Anks1 UTSW 17 28,128,571 (GRCm39) missense possibly damaging 0.82
R9801:Anks1 UTSW 17 28,227,033 (GRCm39) missense possibly damaging 0.79
Posted On 2013-04-17