Incidental Mutation 'R7464:Ankar'
ID 578599
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 045538-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7464 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 72642980-72700579 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72698894 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 43 (V43E)
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: V43E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V43E

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: V43E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000212573
Predicted Effect probably benign
Transcript: ENSMUST00000212710
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (79/82)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass C T 6: 23,077,153 (GRCm38) G736R possibly damaging Het
Acta2 G A 19: 34,252,531 (GRCm38) T8I probably benign Het
Apof A G 10: 128,269,636 (GRCm38) I220V probably benign Het
Asxl1 G T 2: 153,397,785 (GRCm38) A499S probably benign Het
Baz2a T A 10: 128,122,073 (GRCm38) D1069E possibly damaging Het
Baz2b T C 2: 59,977,448 (GRCm38) T156A possibly damaging Het
Bbc3 A T 7: 16,317,157 (GRCm38) R169W unknown Het
C5ar1 T A 7: 16,248,766 (GRCm38) I110L probably benign Het
Cd19 C A 7: 126,411,803 (GRCm38) R323L probably damaging Het
Cdc14b A T 13: 64,196,675 (GRCm38) C113* probably null Het
Cngb1 C A 8: 95,254,183 (GRCm38) W914L possibly damaging Het
Colgalt2 A G 1: 152,504,144 (GRCm38) K445E probably damaging Het
Crebrf A G 17: 26,763,487 (GRCm38) M608V unknown Het
Csf1 T A 3: 107,748,875 (GRCm38) H280L probably benign Het
Cyp2j11 C A 4: 96,345,120 (GRCm38) R113L probably damaging Het
D5Ertd579e G A 5: 36,613,785 (GRCm38) H1089Y probably damaging Het
Ddx60 C T 8: 61,940,674 (GRCm38) T48M possibly damaging Het
Defa40 T A 8: 21,249,894 (GRCm38) S45T probably damaging Het
Dock10 T C 1: 80,540,315 (GRCm38) D1315G probably damaging Het
Dock2 T G 11: 34,695,278 (GRCm38) N526H probably damaging Het
Dram2 T C 3: 106,573,683 (GRCm38) *268Q probably null Het
Emc8 A G 8: 120,667,918 (GRCm38) Y21H possibly damaging Het
Fam162a A G 16: 36,071,493 (GRCm38) L4P probably damaging Het
Fan1 T A 7: 64,372,486 (GRCm38) N340Y probably damaging Het
Fbxw10 T A 11: 62,853,298 (GRCm38) I307N probably benign Het
Fbxw16 A G 9: 109,439,551 (GRCm38) V257A possibly damaging Het
Fer1l6 T A 15: 58,573,247 (GRCm38) probably null Het
Galnt7 A G 8: 57,584,020 (GRCm38) Y112H possibly damaging Het
Gigyf2 T C 1: 87,428,604 (GRCm38) I803T unknown Het
Gm28729 A G 9: 96,521,235 (GRCm38) I44T possibly damaging Het
Gm5447 A G 13: 30,974,394 (GRCm38) I34V not run Het
H2-M9 A T 17: 36,642,411 (GRCm38) probably null Het
Helz G A 11: 107,636,278 (GRCm38) C864Y probably damaging Het
Il25 A G 14: 54,933,222 (GRCm38) Y84C probably null Het
Itga10 T A 3: 96,648,155 (GRCm38) C142S probably damaging Het
Kcna10 A T 3: 107,194,079 (GRCm38) M9L probably damaging Het
Klhl6 G T 16: 19,957,113 (GRCm38) Q232K possibly damaging Het
Mb21d2 T G 16: 28,929,546 (GRCm38) I40L possibly damaging Het
Mdm1 T C 10: 118,152,266 (GRCm38) S334P probably benign Het
Mllt10 T A 2: 18,170,279 (GRCm38) D549E probably benign Het
Mlxipl T C 5: 135,133,628 (GRCm38) V648A probably benign Het
Nars2 A G 7: 97,039,930 (GRCm38) K353R probably benign Het
Nav1 T A 1: 135,584,909 (GRCm38) M138L probably benign Het
Neb T C 2: 52,193,890 (GRCm38) T5635A probably benign Het
Nktr A C 9: 121,750,327 (GRCm38) I1154L unknown Het
Or14j8 A T 17: 37,952,280 (GRCm38) V248D probably damaging Het
Or2a57 T G 6: 43,236,294 (GRCm38) S229A probably damaging Het
Or4g17 T A 2: 111,379,198 (GRCm38) L66Q probably damaging Het
Oxld1 T C 11: 120,457,137 (GRCm38) D78G probably benign Het
Pde1b T C 15: 103,524,829 (GRCm38) I255T probably benign Het
Pkp4 T A 2: 59,308,137 (GRCm38) F244I probably benign Het
Polg2 C A 11: 106,773,714 (GRCm38) V305L probably benign Het
Pramel34 C T 5: 93,636,240 (GRCm38) C455Y probably damaging Het
Ptpn18 G A 1: 34,473,364 (GRCm38) D417N possibly damaging Het
Sash1 T C 10: 8,756,745 (GRCm38) D242G possibly damaging Het
Six4 T C 12: 73,112,530 (GRCm38) T219A possibly damaging Het
Slc28a3 A C 13: 58,563,021 (GRCm38) Y562* probably null Het
Soat1 A T 1: 156,439,317 (GRCm38) W310R probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,656,691 (GRCm38) probably benign Het
Spef2 T C 15: 9,740,585 (GRCm38) N30D probably benign Het
Spopfm2 A T 3: 94,176,104 (GRCm38) N133K probably benign Het
Srebf2 T A 15: 82,172,874 (GRCm38) I270N probably damaging Het
St8sia3 T C 18: 64,271,518 (GRCm38) W289R probably damaging Het
Stx5a T A 19: 8,743,504 (GRCm38) probably benign Het
Tacc1 T C 8: 25,164,464 (GRCm38) D689G probably damaging Het
Tacc3 A G 5: 33,661,284 (GRCm38) D21G probably benign Het
Tapt1 G A 5: 44,188,688 (GRCm38) R307* probably null Het
Tbc1d9b T A 11: 50,131,485 (GRCm38) V16E probably damaging Het
Tchhl1 G A 3: 93,470,664 (GRCm38) R225K probably benign Het
Thumpd3 G A 6: 113,055,769 (GRCm38) G156D probably benign Het
Tmem178 C T 17: 80,944,902 (GRCm38) P72S probably benign Het
Tmem52 C T 4: 155,469,469 (GRCm38) P46S probably benign Het
Tmem94 G T 11: 115,786,256 (GRCm38) R118L possibly damaging Het
Tulp3 A T 6: 128,326,829 (GRCm38) V269D probably benign Het
Ubr1 A G 2: 120,889,774 (GRCm38) probably null Het
Upf1 G A 8: 70,333,423 (GRCm38) S962L probably benign Het
Vcpip1 C T 1: 9,746,520 (GRCm38) R546Q probably damaging Het
Vmn2r49 A C 7: 9,988,893 (GRCm38) S151R probably benign Het
Wac T C 18: 7,871,746 (GRCm38) probably null Het
Wrn C T 8: 33,335,996 (GRCm38) probably null Het
Zfp286 C A 11: 62,780,801 (GRCm38) D149Y probably benign Het
Zfp748 A G 13: 67,541,972 (GRCm38) C390R probably damaging Het
Zfp873 A G 10: 82,060,376 (GRCm38) T314A possibly damaging Het
Zfyve1 C T 12: 83,551,487 (GRCm38) D656N probably benign Het
Zmym1 T A 4: 127,058,935 (GRCm38) K18* probably null Het
Other mutations in Ankar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Ankar APN 1 72,690,131 (GRCm38) missense probably damaging 1.00
IGL01013:Ankar APN 1 72,650,989 (GRCm38) missense possibly damaging 0.90
IGL01135:Ankar APN 1 72,665,219 (GRCm38) missense probably benign 0.28
IGL01824:Ankar APN 1 72,651,727 (GRCm38) missense probably benign 0.40
IGL01885:Ankar APN 1 72,658,703 (GRCm38) missense probably damaging 1.00
IGL01932:Ankar APN 1 72,698,987 (GRCm38) missense probably benign 0.25
IGL02143:Ankar APN 1 72,658,649 (GRCm38) critical splice donor site probably null
IGL02326:Ankar APN 1 72,666,355 (GRCm38) missense probably damaging 1.00
IGL02445:Ankar APN 1 72,666,365 (GRCm38) missense probably benign 0.05
IGL02606:Ankar APN 1 72,690,285 (GRCm38) missense possibly damaging 0.61
IGL02635:Ankar APN 1 72,652,431 (GRCm38) missense possibly damaging 0.93
IGL02680:Ankar APN 1 72,670,116 (GRCm38) missense probably damaging 1.00
IGL02704:Ankar APN 1 72,652,343 (GRCm38) missense possibly damaging 0.88
IGL03086:Ankar APN 1 72,643,278 (GRCm38) missense possibly damaging 0.84
IGL03269:Ankar APN 1 72,665,201 (GRCm38) missense probably damaging 0.99
IGL03368:Ankar APN 1 72,675,813 (GRCm38) missense probably damaging 1.00
R0050:Ankar UTSW 1 72,656,164 (GRCm38) missense probably damaging 1.00
R0050:Ankar UTSW 1 72,656,164 (GRCm38) missense probably damaging 1.00
R0488:Ankar UTSW 1 72,658,732 (GRCm38) missense probably damaging 1.00
R0650:Ankar UTSW 1 72,656,221 (GRCm38) splice site probably benign
R1121:Ankar UTSW 1 72,651,663 (GRCm38) splice site probably null
R1163:Ankar UTSW 1 72,688,705 (GRCm38) missense possibly damaging 0.82
R1300:Ankar UTSW 1 72,643,164 (GRCm38) missense probably benign 0.00
R1309:Ankar UTSW 1 72,674,004 (GRCm38) missense possibly damaging 0.59
R1366:Ankar UTSW 1 72,698,649 (GRCm38) missense probably damaging 1.00
R1456:Ankar UTSW 1 72,665,118 (GRCm38) missense probably benign 0.34
R1495:Ankar UTSW 1 72,643,291 (GRCm38) missense probably benign
R1583:Ankar UTSW 1 72,679,555 (GRCm38) splice site probably benign
R1635:Ankar UTSW 1 72,650,138 (GRCm38) missense probably damaging 0.99
R1975:Ankar UTSW 1 72,658,441 (GRCm38) missense possibly damaging 0.95
R2036:Ankar UTSW 1 72,666,530 (GRCm38) nonsense probably null
R2511:Ankar UTSW 1 72,658,694 (GRCm38) missense probably damaging 1.00
R2965:Ankar UTSW 1 72,675,820 (GRCm38) missense probably benign 0.00
R3404:Ankar UTSW 1 72,643,093 (GRCm38) nonsense probably null
R3417:Ankar UTSW 1 72,658,976 (GRCm38) critical splice donor site probably null
R4072:Ankar UTSW 1 72,688,592 (GRCm38) missense probably damaging 1.00
R4231:Ankar UTSW 1 72,658,542 (GRCm38) missense probably benign 0.23
R4447:Ankar UTSW 1 72,687,789 (GRCm38) missense possibly damaging 0.60
R4632:Ankar UTSW 1 72,647,184 (GRCm38) missense probably benign 0.01
R4720:Ankar UTSW 1 72,699,011 (GRCm38) missense possibly damaging 0.55
R4754:Ankar UTSW 1 72,698,694 (GRCm38) missense probably damaging 1.00
R4884:Ankar UTSW 1 72,698,807 (GRCm38) missense probably damaging 0.97
R5068:Ankar UTSW 1 72,680,210 (GRCm38) splice site probably null
R5069:Ankar UTSW 1 72,680,210 (GRCm38) splice site probably null
R5070:Ankar UTSW 1 72,680,210 (GRCm38) splice site probably null
R5189:Ankar UTSW 1 72,658,414 (GRCm38) missense probably benign 0.01
R5247:Ankar UTSW 1 72,680,184 (GRCm38) missense probably benign 0.08
R5322:Ankar UTSW 1 72,690,386 (GRCm38) splice site probably null
R5345:Ankar UTSW 1 72,670,151 (GRCm38) missense possibly damaging 0.94
R5864:Ankar UTSW 1 72,659,165 (GRCm38) missense probably benign 0.00
R5976:Ankar UTSW 1 72,643,291 (GRCm38) missense probably benign
R6003:Ankar UTSW 1 72,698,887 (GRCm38) missense probably damaging 1.00
R6042:Ankar UTSW 1 72,674,054 (GRCm38) nonsense probably null
R6296:Ankar UTSW 1 72,643,258 (GRCm38) missense probably damaging 1.00
R6488:Ankar UTSW 1 72,681,808 (GRCm38) critical splice donor site probably null
R6885:Ankar UTSW 1 72,643,036 (GRCm38) missense unknown
R6985:Ankar UTSW 1 72,658,482 (GRCm38) missense probably damaging 1.00
R7060:Ankar UTSW 1 72,656,113 (GRCm38) missense probably benign 0.18
R7099:Ankar UTSW 1 72,643,293 (GRCm38) missense probably damaging 0.99
R7194:Ankar UTSW 1 72,659,033 (GRCm38) missense probably benign 0.32
R7221:Ankar UTSW 1 72,650,231 (GRCm38) missense probably damaging 1.00
R7222:Ankar UTSW 1 72,666,355 (GRCm38) missense probably damaging 0.99
R7258:Ankar UTSW 1 72,651,727 (GRCm38) missense probably benign 0.40
R7303:Ankar UTSW 1 72,659,033 (GRCm38) missense probably benign 0.32
R7308:Ankar UTSW 1 72,651,794 (GRCm38) nonsense probably null
R7384:Ankar UTSW 1 72,658,465 (GRCm38) missense probably benign 0.00
R7424:Ankar UTSW 1 72,680,058 (GRCm38) missense probably damaging 1.00
R7525:Ankar UTSW 1 72,688,641 (GRCm38) missense probably benign 0.18
R7618:Ankar UTSW 1 72,675,766 (GRCm38) missense probably benign 0.22
R7659:Ankar UTSW 1 72,690,135 (GRCm38) missense possibly damaging 0.95
R7974:Ankar UTSW 1 72,698,979 (GRCm38) nonsense probably null
R8008:Ankar UTSW 1 72,666,484 (GRCm38) missense possibly damaging 0.47
R8119:Ankar UTSW 1 72,647,001 (GRCm38) missense probably damaging 0.98
R8244:Ankar UTSW 1 72,651,024 (GRCm38) missense probably benign
R8342:Ankar UTSW 1 72,652,460 (GRCm38) missense probably damaging 1.00
R8494:Ankar UTSW 1 72,658,794 (GRCm38) missense probably benign 0.16
R8851:Ankar UTSW 1 72,652,376 (GRCm38) missense probably damaging 1.00
R8970:Ankar UTSW 1 72,652,337 (GRCm38) critical splice donor site probably null
R9228:Ankar UTSW 1 72,674,051 (GRCm38) missense probably benign 0.27
R9511:Ankar UTSW 1 72,680,002 (GRCm38) missense probably benign 0.23
R9577:Ankar UTSW 1 72,681,908 (GRCm38) missense probably benign 0.02
R9612:Ankar UTSW 1 72,665,135 (GRCm38) missense possibly damaging 0.65
R9647:Ankar UTSW 1 72,650,148 (GRCm38) missense probably damaging 1.00
R9803:Ankar UTSW 1 72,659,181 (GRCm38) missense possibly damaging 0.47
Z1176:Ankar UTSW 1 72,689,961 (GRCm38) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CTTAAGATCTGATGGACTTCCCTG -3'
(R):5'- AGCCAACTTCCTTGCCATG -3'

Sequencing Primer
(F):5'- ACTTCCCTGTAGTCTAAGAGGGC -3'
(R):5'- CCTTGCCATGACAAATATTACTGC -3'
Posted On 2019-10-07