Incidental Mutation 'R7659:Ankar'
ID 591408
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 045734-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7659 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 72682139-72739738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72729294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 284 (T284A)
Ref Sequence ENSEMBL: ENSMUSP00000054056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573] [ENSMUST00000212710]
AlphaFold A2RT91
Predicted Effect possibly damaging
Transcript: ENSMUST00000053499
AA Change: T284A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: T284A

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: T284A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212573
AA Change: T66A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212710
AA Change: T132A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh2 T C 5: 121,707,023 (GRCm39) E498G probably damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atp6v0a4 A G 6: 38,048,907 (GRCm39) I452T probably damaging Het
Azgp1 G T 5: 137,985,775 (GRCm39) A133S probably damaging Het
Bmp2k T C 5: 97,222,578 (GRCm39) S667P unknown Het
C1qtnf9 T A 14: 61,009,753 (GRCm39) I3N possibly damaging Het
C530025M09Rik T G 2: 149,672,539 (GRCm39) T199P unknown Het
Casc3 C G 11: 98,700,699 (GRCm39) R4G unknown Het
Cass4 A G 2: 172,268,947 (GRCm39) D343G probably damaging Het
Cenatac T C 9: 44,324,790 (GRCm39) E164G probably damaging Het
Col6a3 T A 1: 90,709,467 (GRCm39) T2517S unknown Het
Dbr1 A G 9: 99,458,663 (GRCm39) T78A probably damaging Het
Dnah9 A G 11: 65,880,606 (GRCm39) F2664L probably damaging Het
Eif2ak1 T C 5: 143,826,280 (GRCm39) I431T probably damaging Het
Got1 A G 19: 43,493,078 (GRCm39) V281A probably benign Het
Gpld1 A C 13: 25,163,964 (GRCm39) R555S probably benign Het
Gpr149 T C 3: 62,511,256 (GRCm39) R248G probably benign Het
Hps3 G A 3: 20,076,978 (GRCm39) R395* probably null Het
Inpp5b T C 4: 124,689,219 (GRCm39) L833P probably damaging Het
Itgb4 A T 11: 115,870,557 (GRCm39) S129C probably damaging Het
Kif1a T A 1: 92,974,542 (GRCm39) probably benign Het
Lgr4 T A 2: 109,827,111 (GRCm39) V205E probably damaging Het
Mbd3 T C 10: 80,231,019 (GRCm39) N96S probably damaging Het
Mcam T A 9: 44,048,067 (GRCm39) C136S unknown Het
Mki67 A G 7: 135,299,155 (GRCm39) S1960P probably damaging Het
Mogs G A 6: 83,093,806 (GRCm39) probably null Het
Muc6 T C 7: 141,216,973 (GRCm39) T2567A possibly damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Nae1 A G 8: 105,242,796 (GRCm39) V432A probably benign Het
Nav3 T G 10: 109,602,851 (GRCm39) T1233P probably benign Het
Nme9 G A 9: 99,352,910 (GRCm39) A287T possibly damaging Het
Nmrk1 A G 19: 18,613,499 (GRCm39) I8V probably benign Het
Noa1 T C 5: 77,457,237 (GRCm39) N223D not run Het
Nr4a3 T C 4: 48,051,269 (GRCm39) Y8H probably damaging Het
Or12e1 T A 2: 87,022,709 (GRCm39) V226E possibly damaging Het
Or1j15 T A 2: 36,458,637 (GRCm39) V9E possibly damaging Het
Or2b4 A T 17: 38,116,054 (GRCm39) Q6L probably benign Het
Or4n4b T C 14: 50,536,698 (GRCm39) I23V probably benign Het
Or4p20 T C 2: 88,254,270 (GRCm39) Y33C probably damaging Het
Or52h2 T C 7: 103,839,394 (GRCm39) S7G probably benign Het
Or7g29 C T 9: 19,286,854 (GRCm39) A108T probably benign Het
Or8c9 T C 9: 38,241,012 (GRCm39) V40A possibly damaging Het
Otoa T A 7: 120,733,267 (GRCm39) H711Q probably benign Het
Otogl T A 10: 107,612,981 (GRCm39) E2048D probably benign Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pcdha3 A G 18: 37,081,219 (GRCm39) T654A probably benign Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Ppt1 T A 4: 122,730,126 (GRCm39) H26Q probably benign Het
Prim1 T C 10: 127,862,458 (GRCm39) probably null Het
Prmt7 G T 8: 106,963,918 (GRCm39) A271S probably benign Het
Ptprd T C 4: 76,047,153 (GRCm39) D124G probably benign Het
Rad54l2 T C 9: 106,590,777 (GRCm39) K450E probably benign Het
Rasgrp2 G T 19: 6,451,857 (GRCm39) V13L probably damaging Het
Sapcd2 A G 2: 25,265,978 (GRCm39) probably null Het
Siglecf A G 7: 43,001,194 (GRCm39) Y54C probably damaging Het
Stk31 T A 6: 49,400,340 (GRCm39) N388K probably benign Het
Timm23 A C 14: 31,920,935 (GRCm39) Y52* probably null Het
Tm9sf1 A T 14: 55,873,792 (GRCm39) F569I probably damaging Het
Tmprss9 C A 10: 80,728,843 (GRCm39) A592E probably damaging Het
Trim30d A T 7: 104,121,554 (GRCm39) V397E probably benign Het
Tshz1 A T 18: 84,034,200 (GRCm39) N69K probably damaging Het
Upk2 A C 9: 44,364,808 (GRCm39) S130R probably damaging Het
Vmn1r80 A G 7: 11,926,977 (GRCm39) Y29C probably damaging Het
Vmn2r96 T C 17: 18,793,749 (GRCm39) I31T probably benign Het
Zfp975 T C 7: 42,311,848 (GRCm39) Q255R 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
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
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'- GGTAGCAATGAGAACATACATTCTGC -3'
(R):5'- TATGAGCCCAATAGCCCTGAAG -3'

Sequencing Primer
(F):5'- TTGCTTATCCTCTTACCTGAAAAAG -3'
(R):5'- CCCTGAAGAAAAGGCTGTGTTTATG -3'
Posted On 2019-11-12