Incidental Mutation 'R1975:Ankar'
ID 221512
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 039988-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1975 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 72682139-72739738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72697600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1068 (V1068I)
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: V1068I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V1068I

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: V1067I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212573
AA Change: V850I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.0816 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (71/74)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,742,322 (GRCm39) T429A probably benign Het
Afmid A C 11: 117,727,300 (GRCm39) I275L probably benign Het
Aimp1 A C 3: 132,382,860 (GRCm39) D5E possibly damaging Het
Aldob G A 4: 49,538,171 (GRCm39) A319V probably benign Het
Ccr2 C T 9: 123,906,830 (GRCm39) S370L probably benign Het
Chrnb4 A G 9: 54,942,102 (GRCm39) Y391H probably damaging Het
Clip1 A G 5: 123,761,281 (GRCm39) M873T possibly damaging Het
Cspg4 G C 9: 56,797,762 (GRCm39) G1409R probably damaging Het
Dnah17 A T 11: 117,987,362 (GRCm39) L1320* probably null Het
Dock4 T C 12: 40,829,641 (GRCm39) probably benign Het
Eml4 T C 17: 83,717,622 (GRCm39) S65P probably benign Het
Fblim1 A T 4: 141,312,175 (GRCm39) D183E probably damaging Het
Foxn1 T C 11: 78,256,763 (GRCm39) probably benign Het
Gm973 A T 1: 59,601,930 (GRCm39) T515S possibly damaging Het
Hdac7 G A 15: 97,704,386 (GRCm39) Q495* probably null Het
Hipk3 T C 2: 104,301,518 (GRCm39) I225V probably benign Het
Hrc A T 7: 44,985,638 (GRCm39) D263V probably damaging Het
Hs6st3 T C 14: 119,375,888 (GRCm39) I21T probably benign Het
Il15ra A G 2: 11,728,334 (GRCm39) T133A possibly damaging Het
Krt78 T C 15: 101,854,603 (GRCm39) *1069W probably null Het
Lama3 T A 18: 12,586,920 (GRCm39) M761K probably damaging Het
Lonp1 T C 17: 56,922,068 (GRCm39) T771A possibly damaging Het
Macf1 T C 4: 123,383,005 (GRCm39) T1320A probably damaging Het
Mark3 A T 12: 111,581,875 (GRCm39) I115L probably damaging Het
Mcph1 T G 8: 18,739,081 (GRCm39) probably benign Het
Med23 T A 10: 24,786,664 (GRCm39) N923K probably benign Het
Msrb2 T G 2: 19,398,032 (GRCm39) Y97D probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Mylk T C 16: 34,700,673 (GRCm39) probably null Het
Nfrkb T A 9: 31,325,980 (GRCm39) V1141E possibly damaging Het
Obscn T C 11: 58,958,555 (GRCm39) E3675G probably damaging Het
Or11h7 T A 14: 50,890,821 (GRCm39) N42K probably damaging Het
Or2l5 G A 16: 19,333,586 (GRCm39) P267S probably damaging Het
Or2t6 A T 14: 14,175,446 (GRCm38) V212E probably damaging Het
Or51aa2 A T 7: 103,188,201 (GRCm39) F80Y probably damaging Het
Or52z14 A G 7: 103,253,219 (GRCm39) probably null Het
Or5ac21 T C 16: 59,124,091 (GRCm39) S193P probably damaging Het
Or8k21 C G 2: 86,145,498 (GRCm39) G44A probably damaging Het
Pan2 T C 10: 128,156,282 (GRCm39) V1171A probably damaging Het
Pdgfc C T 3: 81,116,552 (GRCm39) T302I probably damaging Het
Pkhd1l1 G T 15: 44,393,109 (GRCm39) V1815F probably damaging Het
Pnpt1 A G 11: 29,091,256 (GRCm39) I337V probably benign Het
Psma8 T G 18: 14,864,033 (GRCm39) probably null Het
Rbl2 T C 8: 91,812,090 (GRCm39) S220P probably benign Het
Rere T A 4: 150,700,190 (GRCm39) D1091E probably damaging Het
Rpa1 A G 11: 75,197,002 (GRCm39) C540R probably damaging Het
Sema3d T A 5: 12,613,285 (GRCm39) V454E probably damaging Het
Sema3d T C 5: 12,634,965 (GRCm39) V677A probably benign Het
Sgk2 A G 2: 162,846,080 (GRCm39) N207S probably benign Het
Sirpb1a T C 3: 15,444,141 (GRCm39) I370V probably benign Het
Slc22a19 A G 19: 7,661,224 (GRCm39) probably benign Het
Slc26a1 T A 5: 108,820,338 (GRCm39) D287V probably damaging Het
Slc36a4 T A 9: 15,645,506 (GRCm39) V311D probably damaging Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Slco2a1 T A 9: 102,956,653 (GRCm39) Y488* probably null Het
Stab2 A C 10: 86,732,360 (GRCm39) probably null Het
Strn T C 17: 78,999,928 (GRCm39) probably null Het
Tbxas1 A G 6: 38,925,575 (GRCm39) probably benign Het
Thumpd3 A G 6: 113,032,838 (GRCm39) N192S possibly damaging Het
Tns3 T A 11: 8,385,738 (GRCm39) I1386F probably benign Het
Treml4 T A 17: 48,579,821 (GRCm39) V219E probably damaging Het
Triobp T C 15: 78,850,908 (GRCm39) V354A probably benign Het
Tspan8 A G 10: 115,680,035 (GRCm39) I217V probably benign Het
Tub G A 7: 108,627,042 (GRCm39) G314R possibly damaging Het
Ube3b C T 5: 114,537,926 (GRCm39) T339M possibly damaging Het
Vmn2r43 A G 7: 8,258,550 (GRCm39) I221T possibly damaging Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Zfp110 C T 7: 12,582,429 (GRCm39) T359I probably benign Het
Zfp322a A T 13: 23,541,074 (GRCm39) C223S probably damaging Het
Zfp512b G A 2: 181,228,878 (GRCm39) R696* probably null 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
IGL02635:Ankar APN 1 72,691,590 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- TCTTTTGCAACAAAGGCCAC -3'
(R):5'- TGATGTAGTAGACACTGAAGTCC -3'

Sequencing Primer
(F):5'- TGTCACCATTTTAACTGACCAAG -3'
(R):5'- TGTAGTAGACACTGAAGTCCACACC -3'
Posted On 2014-08-25