Incidental Mutation 'R7525:Ankar'
ID 582892
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 045597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7525 (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 72727800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 371 (D371G)
Ref Sequence ENSEMBL: ENSMUSP00000054056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573] [ENSMUST00000212710]
AlphaFold A2RT91
Predicted Effect probably benign
Transcript: ENSMUST00000053499
AA Change: D371G

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: D371G

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 benign
Transcript: ENSMUST00000211837
AA Change: D371G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000212573
AA Change: D153G

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000212710
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,331,221 (GRCm39) T998A probably damaging Het
Aadacl4fm2 A G 4: 144,291,580 (GRCm39) F42S probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Akt3 T A 1: 176,847,673 (GRCm39) K465* probably null Het
Ankib1 T G 5: 3,805,734 (GRCm39) N178H possibly damaging Het
Arhgap10 A G 8: 78,146,699 (GRCm39) probably null Het
Arhgef4 A G 1: 34,848,785 (GRCm39) D286G probably damaging Het
Bsdc1 A T 4: 129,355,477 (GRCm39) probably benign Het
Camk4 T C 18: 33,318,085 (GRCm39) V414A probably benign Het
Cyp2d9 T A 15: 82,338,293 (GRCm39) V139E possibly damaging Het
Dhrs13 C A 11: 77,923,260 (GRCm39) N21K unknown Het
Dop1a C T 9: 86,388,343 (GRCm39) A439V probably damaging Het
Dpy19l4 G A 4: 11,317,160 (GRCm39) Q13* probably null Het
Ecpas A G 4: 58,847,038 (GRCm39) I508T possibly damaging Het
Eif2ak1 T C 5: 143,823,716 (GRCm39) S388P probably damaging Het
Emilin2 T C 17: 71,581,974 (GRCm39) S251G probably benign Het
Eml4 T A 17: 83,753,379 (GRCm39) L350Q probably damaging Het
Fblim1 A T 4: 141,317,391 (GRCm39) L98H probably damaging Het
Fcrl6 T A 1: 172,425,239 (GRCm39) N264I probably benign Het
Gzme A C 14: 56,356,790 (GRCm39) D57E probably benign Het
H2-D1 A G 17: 35,484,909 (GRCm39) T257A probably damaging Het
Hectd4 C A 5: 121,481,728 (GRCm39) D3092E possibly damaging Het
Hrc A G 7: 44,985,803 (GRCm39) E318G probably benign Het
Hspbp1 A G 7: 4,666,435 (GRCm39) L315P probably damaging Het
Insr A T 8: 3,242,642 (GRCm39) Y591N probably damaging Het
Lrch4 T A 5: 137,637,727 (GRCm39) I582N probably damaging Het
Lrit2 A G 14: 36,794,450 (GRCm39) K505E possibly damaging Het
Lrp1b A T 2: 40,547,428 (GRCm39) N4251K Het
Mfsd13a T C 19: 46,357,716 (GRCm39) F290S probably damaging Het
Mgam T G 6: 40,742,954 (GRCm39) N1791K probably benign Het
Mroh7 A T 4: 106,566,899 (GRCm39) I450N probably benign Het
Mylk G A 16: 34,809,357 (GRCm39) M1771I probably benign Het
Or10ak12 A T 4: 118,666,691 (GRCm39) F123L probably damaging Het
Or51aa2 A T 7: 103,188,338 (GRCm39) C34* probably null Het
Or8d1 A T 9: 38,766,534 (GRCm39) M59L possibly damaging Het
Or8g55 T A 9: 39,785,435 (GRCm39) L288* probably null Het
Parp14 A T 16: 35,677,861 (GRCm39) H702Q probably benign Het
Pcdhga1 T C 18: 37,795,281 (GRCm39) L95P probably damaging Het
Pcsk5 T C 19: 17,619,954 (GRCm39) T373A probably damaging Het
Pdzph1 A G 17: 59,274,336 (GRCm39) V836A possibly damaging Het
Pgap1 T A 1: 54,570,081 (GRCm39) N322I probably benign Het
Pikfyve C T 1: 65,283,585 (GRCm39) R741* probably null Het
Pip4k2c A G 10: 127,044,773 (GRCm39) S80P probably damaging Het
Plekhh3 A G 11: 101,057,445 (GRCm39) F271L probably damaging Het
Prkdc A T 16: 15,490,191 (GRCm39) Y565F probably damaging Het
Prom2 T C 2: 127,374,701 (GRCm39) R612G probably benign Het
Psap T C 10: 60,135,253 (GRCm39) V303A probably benign Het
Ptch1 C T 13: 63,659,528 (GRCm39) R1375H probably benign Het
Slc24a3 A C 2: 145,455,450 (GRCm39) K446N probably benign Het
Slc39a12 T A 2: 14,499,272 (GRCm39) M661K probably benign Het
Slc6a16 T C 7: 44,908,537 (GRCm39) L39P probably benign Het
Syne1 T G 10: 5,135,559 (GRCm39) probably null Het
Taar8c T C 10: 23,977,764 (GRCm39) N16S probably benign Het
Tmem98 A G 11: 80,708,344 (GRCm39) T105A probably damaging Het
Tmub1 T A 5: 24,651,011 (GRCm39) Y216F probably damaging Het
Trim16 T G 11: 62,711,580 (GRCm39) C84G probably damaging Het
Ttn T A 2: 76,561,573 (GRCm39) K28978* probably null Het
Usp38 A G 8: 81,740,875 (GRCm39) V64A probably damaging Het
Vmn2r63 A T 7: 42,576,406 (GRCm39) F469Y possibly damaging Het
Vmn2r74 A G 7: 85,610,510 (GRCm39) W61R probably benign Het
Whamm G T 7: 81,243,598 (GRCm39) G607C probably damaging Het
Xkr6 G T 14: 64,056,610 (GRCm39) V430F probably benign Het
Zfp398 A G 6: 47,842,752 (GRCm39) D268G 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
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'- ACCAACAGAAGCTCTCAGTG -3'
(R):5'- CTGAGTATAGCCTCTAGTGCCAC -3'

Sequencing Primer
(F):5'- CAGAAGCTCTCAGTGAAAACTTAC -3'
(R):5'- GTATAGCCTCTAGTGCCACAAGTG -3'
Posted On 2019-10-17