Incidental Mutation 'R1300:Ankar'
ID 158270
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 039366-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1300 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 72682139-72739738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 72682323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 1414 (V1414G)
Ref Sequence ENSEMBL: ENSMUSP00000054056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573]
AlphaFold A2RT91
Predicted Effect probably benign
Transcript: ENSMUST00000053499
AA Change: V1414G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V1414G

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 probably benign
Transcript: ENSMUST00000211837
AA Change: V1413G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212057
Predicted Effect probably benign
Transcript: ENSMUST00000212573
AA Change: V1196G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,283,967 (GRCm39) I2535T probably damaging Het
Adam34l A T 8: 44,079,881 (GRCm39) Y114* probably null Het
Ank3 A G 10: 69,840,495 (GRCm39) I952V probably benign Het
Arl2 A G 19: 6,191,103 (GRCm39) M10T probably benign Het
Arpp21 A G 9: 111,972,442 (GRCm39) I352T probably damaging Het
Cacna1e T A 1: 154,274,419 (GRCm39) H2162L probably benign Het
Cep170b A C 12: 112,703,691 (GRCm39) M622L probably benign Het
Cped1 T C 6: 22,119,552 (GRCm39) V337A probably benign Het
Cpn2 T A 16: 30,078,481 (GRCm39) T407S probably benign Het
Cpne4 T C 9: 104,870,333 (GRCm39) W263R probably damaging Het
Crtc1 A G 8: 70,840,189 (GRCm39) probably null Het
Cspg4b T C 13: 113,502,694 (GRCm39) F133S probably damaging Het
Dennd5a A T 7: 109,518,614 (GRCm39) I485N probably benign Het
Dnah6 T C 6: 73,101,692 (GRCm39) Q1892R probably benign Het
Dse G A 10: 34,028,411 (GRCm39) A893V probably benign Het
Dsg1a T G 18: 20,465,206 (GRCm39) S466A probably benign Het
Dstyk T C 1: 132,377,651 (GRCm39) V419A probably benign Het
Eif2ak4 T C 2: 118,294,464 (GRCm39) V1125A possibly damaging Het
Ep400 C A 5: 110,821,426 (GRCm39) G2576C probably damaging Het
Eps15l1 A T 8: 73,145,746 (GRCm39) D162E probably damaging Het
Fstl4 C A 11: 52,959,454 (GRCm39) T165N probably benign Het
Gm8674 T C 13: 50,055,758 (GRCm39) noncoding transcript Het
Gtsf2 T A 15: 103,352,780 (GRCm39) L39F possibly damaging Het
Hck A C 2: 152,976,067 (GRCm39) D202A possibly damaging Het
Il12b T A 11: 44,298,903 (GRCm39) probably null Het
Irf4 T C 13: 30,941,568 (GRCm39) L307P probably damaging Het
Keg1 G A 19: 12,696,368 (GRCm39) R184Q probably damaging Het
Kmt2c T C 5: 25,610,452 (GRCm39) D218G probably damaging Het
Map1b T C 13: 99,569,029 (GRCm39) K1231E unknown Het
Mapkbp1 T C 2: 119,844,136 (GRCm39) Y293H probably benign Het
Mfsd8 A T 3: 40,778,333 (GRCm39) D310E probably benign Het
Mmp9 A T 2: 164,790,876 (GRCm39) D88V probably damaging Het
Muc5ac G T 7: 141,370,666 (GRCm39) C2522F possibly damaging Het
Myo1e A T 9: 70,209,065 (GRCm39) I110F probably damaging Het
Neu1 A T 17: 35,153,314 (GRCm39) Y279F possibly damaging Het
Nhsl1 A G 10: 18,284,209 (GRCm39) H50R probably benign Het
Nlrp3 C T 11: 59,446,594 (GRCm39) S780F possibly damaging Het
Npc1l1 T G 11: 6,177,859 (GRCm39) D517A probably damaging Het
Or14c43 T C 7: 86,114,951 (GRCm39) F111L probably benign Het
Or1e32 T C 11: 73,705,072 (GRCm39) T279A probably benign Het
Or2z2 T C 11: 58,346,667 (GRCm39) Y36C probably damaging Het
Or52e3 G A 7: 102,869,324 (GRCm39) R133Q probably benign Het
P3h2 C A 16: 25,815,986 (GRCm39) E176* probably null Het
Parp10 C A 15: 76,126,190 (GRCm39) D333Y possibly damaging Het
Pcdhb12 C T 18: 37,570,450 (GRCm39) A532V possibly damaging Het
Pde2a A T 7: 101,159,611 (GRCm39) T818S possibly damaging Het
Phf11 A T 14: 59,488,563 (GRCm39) V78D probably damaging Het
Phip A T 9: 82,758,800 (GRCm39) L1450Q probably benign Het
Pinx1 A G 14: 64,156,859 (GRCm39) E262G probably benign Het
Ppargc1a T C 5: 51,706,014 (GRCm39) E19G probably damaging Het
Pum1 T C 4: 130,493,272 (GRCm39) I921T probably damaging Het
Rgs22 T A 15: 36,101,908 (GRCm39) H106L probably benign Het
Slc10a6 T C 5: 103,754,550 (GRCm39) D327G probably benign Het
Syt1 A T 10: 108,467,682 (GRCm39) V205D possibly damaging Het
Tep1 C T 14: 51,064,512 (GRCm39) probably null Het
Thnsl2 T A 6: 71,111,175 (GRCm39) Q231L probably damaging Het
Ttc4 T A 4: 106,524,763 (GRCm39) H304L probably damaging Het
Unc5c G A 3: 141,534,304 (GRCm39) V923M possibly damaging Het
Zfp777 T C 6: 48,002,704 (GRCm39) E506G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGTGGGCTCTTAACTCAGCATATCAAC -3'
(R):5'- GTGGCCTTCTTACTTCCAGGGAAAG -3'

Sequencing Primer
(F):5'- GCCATTCCCTGAAGATGCTG -3'
(R):5'- TTCTTACTTCCAGGGAAAGAGCAC -3'
Posted On 2014-02-18