Incidental Mutation 'IGL02635:Ankar'
ID 301485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02635
Quality Score
Status
Chromosome 1
Chromosomal Location 72682139-72739738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72691590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1124 (V1124I)
Ref Sequence ENSEMBL: ENSMUSP00000054056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573]
AlphaFold A2RT91
Predicted Effect possibly damaging
Transcript: ENSMUST00000053499
AA Change: V1124I

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V1124I

DomainStartEndE-ValueType
low complexity region 46 51 N/A INTRINSIC
low complexity region 484 496 N/A INTRINSIC
ANK 532 561 1.25e2 SMART
ANK 582 611 3.49e0 SMART
ANK 615 644 4.44e2 SMART
ANK 651 680 3.8e-1 SMART
ANK 684 714 9.87e0 SMART
ARM 744 784 5.96e-3 SMART
ARM 785 825 4.09e0 SMART
Blast:ARM 827 865 1e-15 BLAST
ARM 867 907 8.34e0 SMART
ARM 909 949 8.34e0 SMART
Blast:ARM 951 991 2e-13 BLAST
ARM 1034 1077 4.82e1 SMART
ARM 1084 1123 1.3e1 SMART
ARM 1257 1297 6.01e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000211837
AA Change: V1123I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212573
AA Change: V906I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik A C 12: 112,381,586 (GRCm39) noncoding transcript Het
Abcc12 C T 8: 87,236,311 (GRCm39) probably benign Het
Akap9 T C 5: 4,120,500 (GRCm39) S3639P possibly damaging Het
AW209491 C T 13: 14,811,852 (GRCm39) A235V possibly damaging Het
Cask A T X: 13,581,009 (GRCm39) D58E probably damaging Het
Cdhr4 T A 9: 107,870,070 (GRCm39) M25K probably benign Het
Clasp2 A G 9: 113,737,910 (GRCm39) I1096V probably damaging Het
Fam234a T A 17: 26,433,427 (GRCm39) I410F possibly damaging Het
Gbe1 T C 16: 70,365,902 (GRCm39) L693P probably damaging Het
Golgb1 G T 16: 36,735,375 (GRCm39) V1541L probably benign Het
Gpr143 G A X: 151,591,257 (GRCm39) E382K probably damaging Het
Gpr171 C T 3: 59,005,017 (GRCm39) V253I probably benign Het
Gsap T A 5: 21,494,814 (GRCm39) W10R probably damaging Het
Hsd17b12 T A 2: 93,913,556 (GRCm39) D116V possibly damaging Het
Ifih1 A T 2: 62,442,173 (GRCm39) L348Q probably damaging Het
Ighv1-50 G A 12: 115,083,615 (GRCm39) A35V probably benign Het
Lrcol1 A C 5: 110,502,459 (GRCm39) M112L probably benign Het
Lrrc59 T A 11: 94,534,282 (GRCm39) V280E probably damaging Het
Med17 A T 9: 15,185,845 (GRCm39) I223K probably damaging Het
Oog3 T C 4: 143,884,715 (GRCm39) N407S probably damaging Het
Or4e1 T C 14: 52,701,251 (GRCm39) I72V probably damaging Het
Pear1 T C 3: 87,657,453 (GRCm39) *1035W probably null Het
Pkd1 T A 17: 24,791,785 (GRCm39) F1157L probably damaging Het
Pkp4 T C 2: 59,135,842 (GRCm39) probably benign Het
Ppl T C 16: 4,907,631 (GRCm39) E888G probably benign Het
Prh1 G A 6: 132,549,246 (GRCm39) G251E unknown Het
Prkar2a A G 9: 108,605,476 (GRCm39) E178G probably damaging Het
Rfx6 A T 10: 51,592,122 (GRCm39) T352S possibly damaging Het
S1pr1 T C 3: 115,505,739 (GRCm39) K285R probably benign Het
Slc12a1 A G 2: 125,067,898 (GRCm39) H995R probably benign Het
Slc25a54 T A 3: 109,020,133 (GRCm39) N382K possibly damaging Het
Snrnp48 T G 13: 38,393,845 (GRCm39) probably benign Het
Spg11 T C 2: 121,943,549 (GRCm39) D201G possibly damaging Het
Stox1 T C 10: 62,500,685 (GRCm39) D625G probably benign Het
Supt6 T C 11: 78,103,565 (GRCm39) H1380R probably damaging Het
Tcp1 T A 17: 13,142,296 (GRCm39) M430K probably benign Het
Tlr12 A T 4: 128,510,609 (GRCm39) V547E probably damaging Het
Tmem255b G T 8: 13,505,195 (GRCm39) D167Y probably damaging Het
Trpc7 T C 13: 56,923,981 (GRCm39) R735G probably damaging Het
Trpm1 A G 7: 63,848,972 (GRCm39) T73A probably benign Het
Ubr3 A T 2: 69,850,827 (GRCm39) L1748F probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Ybx1 T C 4: 119,136,286 (GRCm39) N282S possibly damaging Het
Zdhhc12 T A 2: 29,983,531 (GRCm39) I24F probably damaging Het
Other mutations in Ankar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Ankar APN 1 72,729,290 (GRCm39) missense probably damaging 1.00
IGL01013:Ankar APN 1 72,690,148 (GRCm39) missense possibly damaging 0.90
IGL01135:Ankar APN 1 72,704,378 (GRCm39) missense probably benign 0.28
IGL01824:Ankar APN 1 72,690,886 (GRCm39) missense probably benign 0.40
IGL01885:Ankar APN 1 72,697,862 (GRCm39) missense probably damaging 1.00
IGL01932:Ankar APN 1 72,738,146 (GRCm39) missense probably benign 0.25
IGL02143:Ankar APN 1 72,697,808 (GRCm39) critical splice donor site probably null
IGL02326:Ankar APN 1 72,705,514 (GRCm39) missense probably damaging 1.00
IGL02445:Ankar APN 1 72,705,524 (GRCm39) missense probably benign 0.05
IGL02606:Ankar APN 1 72,729,444 (GRCm39) missense possibly damaging 0.61
IGL02680:Ankar APN 1 72,709,275 (GRCm39) missense probably damaging 1.00
IGL02704:Ankar APN 1 72,691,502 (GRCm39) missense possibly damaging 0.88
IGL03086:Ankar APN 1 72,682,437 (GRCm39) missense possibly damaging 0.84
IGL03269:Ankar APN 1 72,704,360 (GRCm39) missense probably damaging 0.99
IGL03368:Ankar APN 1 72,714,972 (GRCm39) missense probably damaging 1.00
R0050:Ankar UTSW 1 72,695,323 (GRCm39) missense probably damaging 1.00
R0050:Ankar UTSW 1 72,695,323 (GRCm39) missense probably damaging 1.00
R0488:Ankar UTSW 1 72,697,891 (GRCm39) missense probably damaging 1.00
R0650:Ankar UTSW 1 72,695,380 (GRCm39) splice site probably benign
R1121:Ankar UTSW 1 72,690,822 (GRCm39) splice site probably null
R1163:Ankar UTSW 1 72,727,864 (GRCm39) missense possibly damaging 0.82
R1300:Ankar UTSW 1 72,682,323 (GRCm39) missense probably benign 0.00
R1309:Ankar UTSW 1 72,713,163 (GRCm39) missense possibly damaging 0.59
R1366:Ankar UTSW 1 72,737,808 (GRCm39) missense probably damaging 1.00
R1456:Ankar UTSW 1 72,704,277 (GRCm39) missense probably benign 0.34
R1495:Ankar UTSW 1 72,682,450 (GRCm39) missense probably benign
R1583:Ankar UTSW 1 72,718,714 (GRCm39) splice site probably benign
R1635:Ankar UTSW 1 72,689,297 (GRCm39) missense probably damaging 0.99
R1975:Ankar UTSW 1 72,697,600 (GRCm39) missense possibly damaging 0.95
R2036:Ankar UTSW 1 72,705,689 (GRCm39) nonsense probably null
R2511:Ankar UTSW 1 72,697,853 (GRCm39) missense probably damaging 1.00
R2965:Ankar UTSW 1 72,714,979 (GRCm39) missense probably benign 0.00
R3404:Ankar UTSW 1 72,682,252 (GRCm39) nonsense probably null
R3417:Ankar UTSW 1 72,698,135 (GRCm39) critical splice donor site probably null
R4072:Ankar UTSW 1 72,727,751 (GRCm39) missense probably damaging 1.00
R4231:Ankar UTSW 1 72,697,701 (GRCm39) missense probably benign 0.23
R4447:Ankar UTSW 1 72,726,948 (GRCm39) missense possibly damaging 0.60
R4632:Ankar UTSW 1 72,686,343 (GRCm39) missense probably benign 0.01
R4720:Ankar UTSW 1 72,738,170 (GRCm39) missense possibly damaging 0.55
R4754:Ankar UTSW 1 72,737,853 (GRCm39) missense probably damaging 1.00
R4884:Ankar UTSW 1 72,737,966 (GRCm39) missense probably damaging 0.97
R5068:Ankar UTSW 1 72,719,369 (GRCm39) splice site probably null
R5069:Ankar UTSW 1 72,719,369 (GRCm39) splice site probably null
R5070:Ankar UTSW 1 72,719,369 (GRCm39) splice site probably null
R5189:Ankar UTSW 1 72,697,573 (GRCm39) missense probably benign 0.01
R5247:Ankar UTSW 1 72,719,343 (GRCm39) missense probably benign 0.08
R5322:Ankar UTSW 1 72,729,545 (GRCm39) splice site probably null
R5345:Ankar UTSW 1 72,709,310 (GRCm39) missense possibly damaging 0.94
R5864:Ankar UTSW 1 72,698,324 (GRCm39) missense probably benign 0.00
R5976:Ankar UTSW 1 72,682,450 (GRCm39) missense probably benign
R6003:Ankar UTSW 1 72,738,046 (GRCm39) missense probably damaging 1.00
R6042:Ankar UTSW 1 72,713,213 (GRCm39) nonsense probably null
R6296:Ankar UTSW 1 72,682,417 (GRCm39) missense probably damaging 1.00
R6488:Ankar UTSW 1 72,720,967 (GRCm39) critical splice donor site probably null
R6885:Ankar UTSW 1 72,682,195 (GRCm39) missense unknown
R6985:Ankar UTSW 1 72,697,641 (GRCm39) missense probably damaging 1.00
R7060:Ankar UTSW 1 72,695,272 (GRCm39) missense probably benign 0.18
R7099:Ankar UTSW 1 72,682,452 (GRCm39) missense probably damaging 0.99
R7194:Ankar UTSW 1 72,698,192 (GRCm39) missense probably benign 0.32
R7221:Ankar UTSW 1 72,689,390 (GRCm39) missense probably damaging 1.00
R7222:Ankar UTSW 1 72,705,514 (GRCm39) missense probably damaging 0.99
R7258:Ankar UTSW 1 72,690,886 (GRCm39) missense probably benign 0.40
R7303:Ankar UTSW 1 72,698,192 (GRCm39) missense probably benign 0.32
R7308:Ankar UTSW 1 72,690,953 (GRCm39) nonsense probably null
R7384:Ankar UTSW 1 72,697,624 (GRCm39) missense probably benign 0.00
R7424:Ankar UTSW 1 72,719,217 (GRCm39) missense probably damaging 1.00
R7464:Ankar UTSW 1 72,738,053 (GRCm39) missense possibly damaging 0.94
R7525:Ankar UTSW 1 72,727,800 (GRCm39) missense probably benign 0.18
R7618:Ankar UTSW 1 72,714,925 (GRCm39) missense probably benign 0.22
R7659:Ankar UTSW 1 72,729,294 (GRCm39) missense possibly damaging 0.95
R7974:Ankar UTSW 1 72,738,138 (GRCm39) nonsense probably null
R8008:Ankar UTSW 1 72,705,643 (GRCm39) missense possibly damaging 0.47
R8119:Ankar UTSW 1 72,686,160 (GRCm39) missense probably damaging 0.98
R8244:Ankar UTSW 1 72,690,183 (GRCm39) missense probably benign
R8342:Ankar UTSW 1 72,691,619 (GRCm39) missense probably damaging 1.00
R8494:Ankar UTSW 1 72,697,953 (GRCm39) missense probably benign 0.16
R8851:Ankar UTSW 1 72,691,535 (GRCm39) missense probably damaging 1.00
R8970:Ankar UTSW 1 72,691,496 (GRCm39) critical splice donor site probably null
R9228:Ankar UTSW 1 72,713,210 (GRCm39) missense probably benign 0.27
R9511:Ankar UTSW 1 72,719,161 (GRCm39) missense probably benign 0.23
R9577:Ankar UTSW 1 72,721,067 (GRCm39) missense probably benign 0.02
R9612:Ankar UTSW 1 72,704,294 (GRCm39) missense possibly damaging 0.65
R9647:Ankar UTSW 1 72,689,307 (GRCm39) missense probably damaging 1.00
R9803:Ankar UTSW 1 72,698,340 (GRCm39) missense possibly damaging 0.47
Z1176:Ankar UTSW 1 72,729,120 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16