Incidental Mutation 'R5175:Anks1'
ID 399221
Institutional Source Beutler Lab
Gene Symbol Anks1
Ensembl Gene ENSMUSG00000024219
Gene Name ankyrin repeat and SAM domain containing 1
Synonyms Odin
MMRRC Submission 042755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5175 (G1)
Quality Score 206
Status Not validated
Chromosome 17
Chromosomal Location 28128280-28281749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28261562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 694 (Q694L)
Ref Sequence ENSEMBL: ENSMUSP00000085344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025058] [ENSMUST00000088027] [ENSMUST00000114842]
AlphaFold P59672
Predicted Effect probably damaging
Transcript: ENSMUST00000025058
AA Change: Q715L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
AA Change: Q715L

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 probably damaging
Transcript: ENSMUST00000088027
AA Change: Q694L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
AA Change: Q694L

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: Q715L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
AA Change: Q715L

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr2 A C 11: 20,030,114 (GRCm39) M215R probably benign Het
Ago2 A T 15: 72,996,067 (GRCm39) I354K possibly damaging Het
Angel2 T A 1: 190,673,081 (GRCm39) C72* probably null Het
Ank2 T A 3: 126,797,673 (GRCm39) H679L probably damaging Het
Aox3 C T 1: 58,211,487 (GRCm39) P1015S probably benign Het
Arhgap35 C A 7: 16,296,524 (GRCm39) R847L probably damaging Het
Bag4 C A 8: 26,258,379 (GRCm39) C316F probably damaging Het
Camkv T A 9: 107,824,581 (GRCm39) I258N probably damaging Het
Cpt1c G A 7: 44,620,781 (GRCm39) A28V probably damaging Het
Cyp2j13 A T 4: 95,956,452 (GRCm39) M219K possibly damaging Het
Dclk1 G T 3: 55,154,648 (GRCm39) R26L possibly damaging Het
Diras2 A T 13: 52,662,007 (GRCm39) I100N probably damaging Het
Dnah5 T A 15: 28,448,550 (GRCm39) N4204K probably damaging Het
Dnase1l3 T A 14: 7,987,386 (GRCm38) K55* probably null Het
Dusp6 A G 10: 99,099,864 (GRCm39) D104G possibly damaging Het
Eif5b A G 1: 38,084,468 (GRCm39) T819A probably damaging Het
Elfn2 A T 15: 78,558,073 (GRCm39) L158H probably damaging Het
Erp44 T C 4: 48,196,823 (GRCm39) T367A probably benign Het
Fasn A T 11: 120,707,195 (GRCm39) D843E probably benign Het
Fbxw25 T C 9: 109,493,631 (GRCm39) Y20C probably damaging Het
Fer1l6 G A 15: 58,422,126 (GRCm39) G108E probably damaging Het
Fndc7 C T 3: 108,776,482 (GRCm39) V520I probably benign Het
Gm17019 A G 5: 15,082,817 (GRCm39) W46R possibly damaging Het
Gorab G T 1: 163,214,214 (GRCm39) Q239K probably damaging Het
Gsdma2 A G 11: 98,543,438 (GRCm39) T76A probably benign Het
Hnrnpll A C 17: 80,341,499 (GRCm39) C513W possibly damaging Het
Ifrd2 T C 9: 107,467,824 (GRCm39) L170P probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnma1 A G 14: 23,386,106 (GRCm39) probably null Het
Kcnn3 T C 3: 89,516,746 (GRCm39) F385S probably damaging Het
Kif18a T G 2: 109,133,323 (GRCm39) probably null Het
Llgl2 A G 11: 115,741,547 (GRCm39) K559R probably damaging Het
Lrrc8a T C 2: 30,145,524 (GRCm39) C113R probably damaging Het
Mgat5 A G 1: 127,387,649 (GRCm39) N535S probably damaging Het
Myh15 T G 16: 48,889,789 (GRCm39) W127G possibly damaging Het
Npsr1 A G 9: 24,046,111 (GRCm39) R77G probably benign Het
Nub1 T A 5: 24,907,446 (GRCm39) S376R probably benign Het
Or14c44 T C 7: 86,062,254 (GRCm39) V228A probably benign Het
Or4d10c G A 19: 12,065,926 (GRCm39) P77S probably damaging Het
Or4k47 A T 2: 111,451,771 (GRCm39) I216N possibly damaging Het
Or5al6 T C 2: 85,976,301 (GRCm39) Y259C probably damaging Het
Or9i2 G A 19: 13,815,680 (GRCm39) P286S probably damaging Het
Pcdh9 A G 14: 94,125,879 (GRCm39) L97P probably damaging Het
Pkn2 A G 3: 142,504,684 (GRCm39) Y831H probably damaging Het
Plcz1 T G 6: 139,985,389 (GRCm39) I51L possibly damaging Het
Plekhg1 T C 10: 3,915,516 (GRCm39) probably benign Het
Prdm9 A T 17: 15,777,713 (GRCm39) S124T probably benign Het
Prkag1 A C 15: 98,713,596 (GRCm39) V33G possibly damaging Het
Rab25 T A 3: 88,450,728 (GRCm39) Y57F possibly damaging Het
Rb1cc1 A G 1: 6,318,545 (GRCm39) I638V probably benign Het
Rest C A 5: 77,416,219 (GRCm39) D144E probably damaging Het
Rpa2 A G 4: 132,505,151 (GRCm39) D260G probably damaging Het
Sf3b3 A G 8: 111,560,467 (GRCm39) V425A probably benign Het
Sidt2 A T 9: 45,863,086 (GRCm39) M15K probably damaging Het
Slc22a17 A G 14: 55,144,748 (GRCm39) L555P probably damaging Het
Smoc2 A G 17: 14,595,719 (GRCm39) D282G possibly damaging Het
Sorcs3 G A 19: 48,748,284 (GRCm39) probably null Het
Spmap2l C T 5: 77,164,317 (GRCm39) P107S probably benign Het
Srcin1 A G 11: 97,464,703 (GRCm39) W15R probably damaging Het
Stra6l A G 4: 45,870,860 (GRCm39) T259A probably benign Het
Ube3a T C 7: 58,938,465 (GRCm39) F741S probably damaging Het
Vasp C A 7: 18,998,594 (GRCm39) M54I probably benign Het
Vmn1r174 A T 7: 23,454,153 (GRCm39) H273L probably benign Het
Vmn2r50 T A 7: 9,771,644 (GRCm39) I686F probably damaging Het
Vmn2r76 T C 7: 85,877,915 (GRCm39) E494G probably benign Het
Zfp788 A G 7: 41,298,753 (GRCm39) E443G probably damaging 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
IGL00940:Anks1 APN 17 28,276,328 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCCTGCCTGTACAGAGAAG -3'
(R):5'- TCAGTTACCCAGCTGACTTCCG -3'

Sequencing Primer
(F):5'- GAAAAGCCGAGAGCCTGCTC -3'
(R):5'- AGCTGACTTCCGGGTGC -3'
Posted On 2016-07-06