Incidental Mutation 'R7099:Ankar'
ID 550678
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 045191-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7099 (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 72682452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1371 (K1371R)
Ref Sequence ENSEMBL: ENSMUSP00000054056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573]
AlphaFold A2RT91
Predicted Effect probably damaging
Transcript: ENSMUST00000053499
AA Change: K1371R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: K1371R

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: K1370R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000212573
AA Change: K1153R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik C T 16: 64,591,151 (GRCm39) A26T probably benign Het
Acly T C 11: 100,383,117 (GRCm39) probably null Het
Adam29 A C 8: 56,324,439 (GRCm39) L672V probably benign Het
Adgrf1 T C 17: 43,621,493 (GRCm39) S577P probably benign Het
Arid5b T C 10: 67,934,009 (GRCm39) D631G probably damaging Het
Brpf3 T C 17: 29,025,611 (GRCm39) V228A probably benign Het
C3 T C 17: 57,513,276 (GRCm39) D1457G probably benign Het
Calr4 A T 4: 109,099,426 (GRCm39) N143I probably benign Het
Catsperd T G 17: 56,935,811 (GRCm39) probably null Het
Cobl T A 11: 12,246,540 (GRCm39) H154L Het
Cryzl2 G A 1: 157,316,154 (GRCm39) probably benign Het
Dennd1c A G 17: 57,374,915 (GRCm39) probably null Het
Dnah8 A T 17: 30,923,698 (GRCm39) D1222V possibly damaging Het
Errfi1 T C 4: 150,951,225 (GRCm39) S218P probably benign Het
Fbxw27 G T 9: 109,599,223 (GRCm39) T398N probably damaging Het
Fhod3 A G 18: 25,223,219 (GRCm39) D855G probably benign Het
Flii A G 11: 60,611,481 (GRCm39) V410A probably benign Het
Fsip2 C A 2: 82,817,968 (GRCm39) P4567Q probably benign Het
Fxyd1 T G 7: 30,752,458 (GRCm39) Q66H probably damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gramd2b C T 18: 56,625,017 (GRCm39) T370I probably benign Het
Kdr A G 5: 76,104,993 (GRCm39) V1079A probably damaging Het
Lmx1a G A 1: 167,658,115 (GRCm39) G166D probably damaging Het
Lrrfip2 A G 9: 111,002,176 (GRCm39) R92G probably benign Het
Map1a T A 2: 121,130,998 (GRCm39) S605T probably benign Het
Megf8 A T 7: 25,045,945 (GRCm39) D1496V probably damaging Het
Mgam T C 6: 40,638,650 (GRCm39) V461A probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Nav3 T C 10: 109,539,195 (GRCm39) T2069A probably benign Het
Nbeal2 A T 9: 110,474,506 (GRCm39) probably null Het
Ndst1 A G 18: 60,828,572 (GRCm39) F661L possibly damaging Het
Neu3 G A 7: 99,463,027 (GRCm39) T232M possibly damaging Het
Nf1 T C 11: 79,461,156 (GRCm39) S741P probably benign Het
Nr5a1 G T 2: 38,584,148 (GRCm39) L424M probably damaging Het
Nuf2 G A 1: 169,333,641 (GRCm39) T345M probably benign Het
Or4d10c A G 19: 12,065,530 (GRCm39) F209L possibly damaging Het
Or4k51 A T 2: 111,585,421 (GRCm39) T276S probably benign Het
Or6d12 T A 6: 116,493,721 (GRCm39) *328R probably null Het
Or8g33 G A 9: 39,337,599 (GRCm39) T256I probably benign Het
Otud7a A G 7: 63,407,203 (GRCm39) E502G possibly damaging Het
Otulin A G 15: 27,608,832 (GRCm39) L237S probably damaging Het
Pias1 A G 9: 62,788,427 (GRCm39) M79T Het
Prom2 T C 2: 127,381,698 (GRCm39) E206G probably benign Het
Scarb1 A T 5: 125,381,414 (GRCm39) N43K probably damaging Het
Sdad1 A G 5: 92,441,832 (GRCm39) V365A possibly damaging Het
Sdk2 T C 11: 113,725,731 (GRCm39) T1173A probably damaging Het
Sidt1 A G 16: 44,063,860 (GRCm39) S803P probably damaging Het
Slc45a1 A T 4: 150,714,030 (GRCm39) D738E probably benign Het
Slc4a7 T A 14: 14,733,750 (GRCm38) H53Q probably damaging Het
Spata22 T C 11: 73,231,225 (GRCm39) F160L probably benign Het
Stag1 G A 9: 100,826,879 (GRCm39) V949I probably benign Het
Syne1 T C 10: 5,073,744 (GRCm39) S1200G probably benign Het
Tbc1d9 A G 8: 83,981,520 (GRCm39) E729G probably damaging Het
Tcaf2 C T 6: 42,607,275 (GRCm39) M226I probably benign Het
Tep1 T C 14: 51,081,944 (GRCm39) probably null Het
Tigd2 C A 6: 59,187,166 (GRCm39) T11K probably damaging Het
Trappc9 A G 15: 72,565,468 (GRCm39) V941A probably benign Het
Ugt2b37 A G 5: 87,388,848 (GRCm39) M455T probably benign Het
Usp42 A T 5: 143,712,400 (GRCm39) S95T probably damaging Het
Usp44 T C 10: 93,686,049 (GRCm39) I488T possibly damaging Het
Vmn1r73 T C 7: 11,490,320 (GRCm39) I46T probably damaging Het
Vmn2r34 A T 7: 7,675,540 (GRCm39) I616N probably damaging Het
Zfp352 A G 4: 90,113,117 (GRCm39) K419R probably benign Het
Zfp595 T A 13: 67,465,711 (GRCm39) H187L probably damaging Het
Zfp804b A T 5: 6,822,161 (GRCm39) S301T probably benign Het
Zzef1 T C 11: 72,763,475 (GRCm39) V1374A 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
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
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'- AAAATGCTGGAGGGTCTGGG -3'
(R):5'- GCCAATGACAGTGTATGTTGTCC -3'

Sequencing Primer
(F):5'- CTTTCCCAAGTTTGTTCAAAAATGC -3'
(R):5'- CTGATCCTTTTTAGAAGACCCGAG -3'
Posted On 2019-05-15