Incidental Mutation 'R4884:Ankar'
ID 375484
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 041978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4884 (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 T at 72737966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 72 (M72K)
Ref Sequence ENSEMBL: ENSMUSP00000054056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573] [ENSMUST00000212710]
AlphaFold A2RT91
Predicted Effect probably damaging
Transcript: ENSMUST00000053499
AA Change: M72K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: M72K

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: M72K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000212573
Predicted Effect probably benign
Transcript: ENSMUST00000212710
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aadat C T 8: 60,979,663 (GRCm39) P175L probably damaging Het
Acot7 G T 4: 152,270,664 (GRCm39) probably benign Het
Adad1 T G 3: 37,130,813 (GRCm39) F259V possibly damaging Het
Adora2a A G 10: 75,161,879 (GRCm39) Y6C probably null Het
Ahnak A G 19: 8,990,118 (GRCm39) probably benign Het
Ankrd45 A G 1: 160,988,270 (GRCm39) K176R possibly damaging Het
Ap3m2 T C 8: 23,293,997 (GRCm39) K18E probably damaging Het
Apol10b C T 15: 77,473,006 (GRCm39) R16Q possibly damaging Het
Atp2b2 T A 6: 113,819,147 (GRCm39) T49S possibly damaging Het
B3gntl1 T G 11: 121,520,795 (GRCm39) Y206S possibly damaging Het
BC061237 G A 14: 44,738,666 (GRCm39) E22K possibly damaging Het
Bmp1 A G 14: 70,712,655 (GRCm39) V959A probably benign Het
Cep295 T C 9: 15,263,056 (GRCm39) E169G probably damaging Het
Cfap20dc G A 14: 8,578,394 (GRCm38) T116I probably damaging Het
Cfap65 T G 1: 74,942,283 (GRCm39) E1757A possibly damaging Het
Cgrrf1 T A 14: 47,090,912 (GRCm39) I216N possibly damaging Het
Clstn2 T A 9: 97,681,448 (GRCm39) D64V probably damaging Het
Col27a1 T A 4: 63,194,197 (GRCm39) D851E possibly damaging Het
Coq9 C T 8: 95,579,822 (GRCm39) P259L probably benign Het
Cps1 A G 1: 67,216,183 (GRCm39) N836S probably benign Het
Cracd A T 5: 76,996,682 (GRCm39) I47F probably damaging Het
Crebbp T C 16: 3,906,239 (GRCm39) K1588E probably damaging Het
Cspg4 T C 9: 56,805,353 (GRCm39) W2055R probably benign Het
Cyp3a44 A T 5: 145,714,792 (GRCm39) M453K probably damaging Het
Dhx36 T G 3: 62,391,681 (GRCm39) D555A probably damaging Het
Dock2 A T 11: 34,216,248 (GRCm39) Y1219N probably damaging Het
Dpy19l2 A T 9: 24,539,476 (GRCm39) C492* probably null Het
Dusp22 A G 13: 30,852,813 (GRCm39) N16S probably benign Het
Epha1 A G 6: 42,337,668 (GRCm39) M805T probably damaging Het
Espl1 C T 15: 102,232,505 (GRCm39) A2071V possibly damaging Het
Fbxo11 T A 17: 88,299,761 (GRCm39) D863V probably damaging Het
Fbxo7 T A 10: 85,865,014 (GRCm39) Y106N probably damaging Het
Fhip1a A C 3: 85,590,918 (GRCm39) C178G probably damaging Het
Fst A G 13: 114,590,920 (GRCm39) V282A probably damaging Het
Gfra3 T A 18: 34,844,304 (GRCm39) M79L probably benign Het
Glp1r T C 17: 31,155,240 (GRCm39) V409A probably damaging Het
Gm10799 T A 2: 103,898,552 (GRCm39) D51V probably damaging Het
Gm572 C A 4: 148,751,819 (GRCm39) T228N possibly damaging Het
Grip1 C T 10: 119,911,211 (GRCm39) T643M probably damaging Het
Hdgfl2 C T 17: 56,403,265 (GRCm39) R222C possibly damaging Het
Hecw2 T A 1: 53,990,000 (GRCm39) I125F probably benign Het
Hipk1 A G 3: 103,651,338 (GRCm39) S1153P possibly damaging Het
Insm2 T C 12: 55,646,546 (GRCm39) S97P probably damaging Het
Iqca1 A G 1: 90,067,759 (GRCm39) V164A probably benign Het
Kcna6 T C 6: 126,715,689 (GRCm39) D400G probably benign Het
Kctd1 T C 18: 15,107,311 (GRCm39) Y122C probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra2 T C 6: 131,207,165 (GRCm39) Y148C probably damaging Het
Krtap31-1 G A 11: 99,799,310 (GRCm39) C171Y unknown Het
Ldlrap1 C T 4: 134,486,282 (GRCm39) R59Q probably benign Het
Ltb T C 17: 35,414,234 (GRCm39) I3T probably benign Het
Macf1 T C 4: 123,348,802 (GRCm39) I2477V probably benign Het
Mpdz A T 4: 81,279,713 (GRCm39) I39N probably damaging Het
Mtcl3 A T 10: 29,072,537 (GRCm39) N610Y probably damaging Het
Mycbp2 A G 14: 103,448,731 (GRCm39) I1776T probably damaging Het
Myof T A 19: 37,930,805 (GRCm39) E994V probably damaging Het
Myom3 A G 4: 135,510,366 (GRCm39) E553G possibly damaging Het
Mysm1 A T 4: 94,847,185 (GRCm39) C504S probably damaging Het
Nectin3 A T 16: 46,269,249 (GRCm39) H384Q probably benign Het
Net1 G A 13: 3,934,252 (GRCm39) R482* probably null Het
Nit1 T C 1: 171,171,263 (GRCm39) K193R probably null Het
Nlgn1 A G 3: 25,966,838 (GRCm39) V205A probably damaging Het
Nr3c2 A T 8: 77,635,438 (GRCm39) I180F possibly damaging Het
Nup50l A T 6: 96,141,793 (GRCm39) M417K probably damaging Het
Nup62 T A 7: 44,478,289 (GRCm39) S101R probably damaging Het
Or13c7 T C 4: 43,854,890 (GRCm39) S194P probably damaging Het
Or1l8 G T 2: 36,818,024 (GRCm39) T34K possibly damaging Het
Or4c3 A G 2: 89,851,987 (GRCm39) V141A probably benign Het
Or51b17 T A 7: 103,542,862 (GRCm39) I27F probably benign Het
Or56b2j T A 7: 104,353,068 (GRCm39) I98N probably damaging Het
Or5b111 A T 19: 13,291,034 (GRCm39) I205N probably benign Het
Or5b124 A T 19: 13,611,391 (GRCm39) K305N probably benign Het
Or5p80 A T 7: 108,229,819 (GRCm39) I207F probably damaging Het
Osbpl6 A T 2: 76,379,883 (GRCm39) I158F probably damaging Het
Pcbp4 A G 9: 106,339,301 (GRCm39) T103A probably benign Het
Pcdha2 T A 18: 37,073,953 (GRCm39) L528Q probably damaging Het
Pcdhga5 T C 18: 37,827,680 (GRCm39) S43P probably damaging Het
Pdgfra C A 5: 75,349,973 (GRCm39) N952K probably benign Het
Pla2r1 A G 2: 60,365,328 (GRCm39) S81P probably damaging Het
Rabggtb A T 3: 153,617,568 (GRCm39) D43E possibly damaging Het
Rexo5 T A 7: 119,424,774 (GRCm39) C43* probably null Het
Robo1 T A 16: 72,701,639 (GRCm39) D168E probably damaging Het
Saxo4 A T 19: 10,451,865 (GRCm39) *428R probably null Het
Scimp A G 11: 70,688,865 (GRCm39) M49T unknown Het
Sema3e T A 5: 14,275,579 (GRCm39) V228E probably damaging Het
Sema6d A G 2: 124,498,738 (GRCm39) probably null Het
Serpinb6d A T 13: 33,850,428 (GRCm39) D85V possibly damaging Het
Slc24a2 C T 4: 86,909,745 (GRCm39) V658I probably damaging Het
Snd1 T C 6: 28,526,911 (GRCm39) I198T possibly damaging Het
Snx33 C T 9: 56,833,464 (GRCm39) V202M probably damaging Het
Srcap A G 7: 127,121,189 (GRCm39) E174G probably damaging Het
Srgap2 C A 1: 131,220,314 (GRCm39) probably null Het
Stxbp5 A T 10: 9,688,085 (GRCm39) Y405* probably null Het
Thsd4 C T 9: 59,895,320 (GRCm39) R710H probably benign Het
Trp53inp1 T A 4: 11,165,130 (GRCm39) D51E probably benign Het
Ttc41 A G 10: 86,566,882 (GRCm39) D516G probably benign Het
Tut7 A T 13: 59,937,266 (GRCm39) L775H probably damaging Het
Uap1l1 A G 2: 25,252,840 (GRCm39) V400A probably damaging Het
Vit T C 17: 78,932,182 (GRCm39) S430P probably damaging Het
Vmn1r9 T A 6: 57,048,294 (GRCm39) M123K possibly damaging Het
Vmn2r14 A T 5: 109,369,384 (GRCm39) probably null Het
Vwa3a A G 7: 120,390,924 (GRCm39) T746A probably benign Het
Wdfy4 G T 14: 32,710,852 (GRCm39) Y2578* probably null Het
Wdr53 A T 16: 32,075,796 (GRCm39) K334* probably null Het
Xpot G T 10: 121,442,713 (GRCm39) H495Q probably damaging Het
Zfp109 T C 7: 23,928,570 (GRCm39) T288A probably benign Het
Zfp277 T A 12: 40,413,152 (GRCm39) E276V probably damaging Het
Zfp703 A G 8: 27,468,729 (GRCm39) D131G probably benign Het
Zfp985 T A 4: 147,667,801 (GRCm39) I223N probably benign Het
Zrsr2-ps1 T C 11: 22,923,805 (GRCm39) V193A possibly damaging Het
Zscan20 A G 4: 128,481,958 (GRCm39) I568T possibly 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
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
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
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'- CTGGATCAAAATTTGTCCAACCCTG -3'
(R):5'- ACAAGATGAAGAAACCTTCCGG -3'

Sequencing Primer
(F):5'- ACCCTGGTATCATAATAAGCAGG -3'
(R):5'- CCTTCCGGGAAAATTTAGCAG -3'
Posted On 2016-03-17