Incidental Mutation 'R6985:Ankar'
ID 542882
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 045092-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6985 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 72682139-72739738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 72697641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 836 (L836R)
Ref Sequence ENSEMBL: ENSMUSP00000148640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573]
AlphaFold A2RT91
Predicted Effect probably damaging
Transcript: ENSMUST00000053499
AA Change: L1054R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: L1054R

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 damaging
Transcript: ENSMUST00000211837
AA Change: L1053R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212573
AA Change: L836R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akirin1 A G 4: 123,630,649 (GRCm39) *192R probably null Het
Anxa7 G T 14: 20,521,636 (GRCm39) A20E unknown Het
Arhgap1 T A 2: 91,498,543 (GRCm39) Y147N probably damaging Het
Arid2 T C 15: 96,268,029 (GRCm39) V714A probably benign Het
Arrdc3 T C 13: 81,031,776 (GRCm39) L3P probably damaging Het
Bhmt2 T C 13: 93,799,830 (GRCm39) D202G possibly damaging Het
Bub1b A G 2: 118,437,095 (GRCm39) R98G probably damaging Het
Capn10 T C 1: 92,871,146 (GRCm39) Y319H probably damaging Het
Cep95 T C 11: 106,709,529 (GRCm39) F115S probably damaging Het
Chsy3 A T 18: 59,309,560 (GRCm39) probably null Het
Cnot1 T C 8: 96,460,757 (GRCm39) N1755S probably benign Het
Cntn4 A G 6: 106,656,378 (GRCm39) N893S probably benign Het
Ctsh G A 9: 89,936,657 (GRCm39) A19T possibly damaging Het
Cttn C A 7: 144,006,324 (GRCm39) E214* probably null Het
Des A G 1: 75,343,431 (GRCm39) E438G possibly damaging Het
Dnaja4 T C 9: 54,615,679 (GRCm39) V109A probably benign Het
Dock1 A G 7: 134,765,132 (GRCm39) E1708G possibly damaging Het
Dst T C 1: 34,229,934 (GRCm39) I2184T probably benign Het
Enc1 C T 13: 97,381,628 (GRCm39) T46I possibly damaging Het
Etaa1 A G 11: 17,896,108 (GRCm39) S670P probably damaging Het
Fam168b G A 1: 34,858,789 (GRCm39) T131M probably damaging Het
Fbn2 A T 18: 58,201,460 (GRCm39) V1319E probably damaging Het
Fcrl1 T A 3: 87,296,957 (GRCm39) V302E probably benign Het
Fgfr3 G C 5: 33,892,785 (GRCm39) E744Q probably null Het
Gmps T A 3: 63,922,960 (GRCm39) I641N probably damaging Het
Gpc2 T A 5: 138,276,670 (GRCm39) Y152F probably damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Herc2 A G 7: 55,782,228 (GRCm39) D1305G probably damaging Het
Ighv1-37 T C 12: 114,860,252 (GRCm39) T14A probably benign Het
Insr T A 8: 3,211,372 (GRCm39) M1156L possibly damaging Het
Kirrel2 C A 7: 30,154,731 (GRCm39) G127C probably damaging Het
Krt10 T C 11: 99,276,456 (GRCm39) N65S possibly damaging Het
Lrig3 A G 10: 125,850,738 (GRCm39) I1101M possibly damaging Het
Lrrc55 T G 2: 85,022,274 (GRCm39) N306H probably benign Het
Map4k3 A G 17: 80,944,161 (GRCm39) S329P probably damaging Het
Mapkap1 T G 2: 34,322,122 (GRCm39) H13Q probably damaging Het
Mki67 A G 7: 135,315,594 (GRCm39) L60S probably damaging Het
Muc4 A T 16: 32,570,817 (GRCm39) M626L probably benign Het
Mycbp2 C T 14: 103,444,117 (GRCm39) V1914I possibly damaging Het
Myo5b T C 18: 74,786,432 (GRCm39) F442L possibly damaging Het
Naa35 T A 13: 59,775,757 (GRCm39) M545K probably benign Het
Nrxn2 T A 19: 6,531,275 (GRCm39) V645E probably damaging Het
Or52z14 A G 7: 103,252,875 (GRCm39) T5A probably benign Het
Or5af2 T C 11: 58,707,939 (GRCm39) F35S probably damaging Het
Otx1 A T 11: 21,946,615 (GRCm39) Y231* probably null Het
Pcdhb19 A G 18: 37,630,211 (GRCm39) E2G probably benign Het
Pik3c2a G A 7: 116,017,223 (GRCm39) T178I probably damaging Het
Plxna4 A G 6: 32,214,643 (GRCm39) S613P probably damaging Het
Pon1 T G 6: 5,168,345 (GRCm39) D354A probably benign Het
Prtg T G 9: 72,758,783 (GRCm39) I379S probably damaging Het
Rbm17 T G 2: 11,595,504 (GRCm39) M234L probably benign Het
Rex1bd T C 8: 70,958,555 (GRCm39) S71G probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Shank1 A G 7: 43,994,337 (GRCm39) I833V unknown Het
Slc35f1 C A 10: 52,898,007 (GRCm39) D139E probably benign Het
Spata31d1a T C 13: 59,850,907 (GRCm39) N407S probably benign Het
Spata31d1d T A 13: 59,879,429 (GRCm39) I36F probably benign Het
Sstr4 T A 2: 148,238,169 (GRCm39) M260K probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trat1 A G 16: 48,574,634 (GRCm39) Y55H probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Vcan T C 13: 89,828,075 (GRCm39) T3124A probably damaging Het
Wdfy4 A T 14: 32,821,074 (GRCm39) F1385Y possibly damaging Het
Xrcc3 T C 12: 111,778,530 (GRCm39) D7G 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
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
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'- AAGATGCAGTATGTAGGTAAGTTGC -3'

Sequencing Primer
(F):5'- TGTCACCATTTTAACTGACCAAG -3'
(R):5'- GGTAAGTTGCTTTCTTTGCATAAC -3'
Posted On 2018-11-28