Incidental Mutation 'R0050:Ankar'
ID 16218
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 038344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0050 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 72682139-72739738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72695323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 1093 (E1093D)
Ref Sequence ENSEMBL: ENSMUSP00000148801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573]
AlphaFold A2RT91
Predicted Effect probably damaging
Transcript: ENSMUST00000053499
AA Change: E1094D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: E1094D

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: E1093D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212573
AA Change: E876D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2075 question?
Coding Region Coverage
  • 1x: 88.6%
  • 3x: 85.4%
  • 10x: 76.7%
  • 20x: 62.7%
Validation Efficiency 90% (86/96)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,069,910 (GRCm39) probably benign Het
Abca9 C T 11: 110,036,417 (GRCm39) C564Y probably damaging Het
Abhd14a A T 9: 106,318,082 (GRCm39) probably benign Het
Acnat2 G A 4: 49,380,586 (GRCm39) T264I probably benign Het
Adamts2 T C 11: 50,666,222 (GRCm39) V406A probably damaging Het
Adcy5 A G 16: 35,124,673 (GRCm39) probably benign Het
Akr1c13 T C 13: 4,244,669 (GRCm39) probably benign Het
Arhgef38 C A 3: 132,837,957 (GRCm39) D75Y probably damaging Het
Asns T C 6: 7,676,019 (GRCm39) I484V probably benign Het
Astn1 T C 1: 158,407,294 (GRCm39) probably benign Het
Atg4b T A 1: 93,715,440 (GRCm39) probably benign Het
Cadm2 A G 16: 66,750,154 (GRCm39) probably benign Het
Ces2c T A 8: 105,574,831 (GRCm39) M96K probably benign Het
Cpd T A 11: 76,683,685 (GRCm39) T1025S possibly damaging Het
Daw1 T C 1: 83,158,086 (GRCm39) V45A probably benign Het
Dmrt3 C A 19: 25,599,953 (GRCm39) P266H probably damaging Het
Dnah10 A G 5: 124,907,808 (GRCm39) T4416A probably benign Het
Dock9 A G 14: 121,844,637 (GRCm39) V1124A probably benign Het
Ermp1 C A 19: 29,606,184 (GRCm39) A190S probably damaging Het
Gm10267 T A 18: 44,289,520 (GRCm39) probably benign Het
Golga2 T A 2: 32,182,139 (GRCm39) V29D probably damaging Het
Gprc6a T A 10: 51,491,485 (GRCm39) M755L probably damaging Het
H1f8 G T 6: 115,924,729 (GRCm39) K78N probably damaging Het
Lama1 A T 17: 68,089,051 (GRCm39) D1574V possibly damaging Het
Lama3 T A 18: 12,537,160 (GRCm39) H268Q probably damaging Het
Lmntd1 T C 6: 145,363,202 (GRCm39) D107G probably damaging Het
Lrriq1 A G 10: 102,904,792 (GRCm39) V1614A probably damaging Het
Mmp12 A G 9: 7,350,152 (GRCm39) probably benign Het
Mre11a A G 9: 14,742,269 (GRCm39) probably benign Het
Mtrf1l T C 10: 5,765,553 (GRCm39) silent Het
Oaz2 A G 9: 65,595,084 (GRCm39) E61G probably damaging Het
Parp3 A T 9: 106,348,600 (GRCm39) D473E possibly damaging Het
Pear1 G T 3: 87,663,294 (GRCm39) Y441* probably null Het
Pkhd1l1 A T 15: 44,437,203 (GRCm39) T3493S possibly damaging Het
Ppp3cb A G 14: 20,581,820 (GRCm39) V65A possibly damaging Het
Rheb A T 5: 25,022,832 (GRCm39) probably benign Het
Ros1 G A 10: 51,977,899 (GRCm39) T1449M probably damaging Het
Scn4a C G 11: 106,211,682 (GRCm39) R1445P probably damaging Het
Sema3d T A 5: 12,634,920 (GRCm39) M662K probably benign Het
Skp2 A G 15: 9,125,178 (GRCm39) F134L probably benign Het
Slc6a12 T C 6: 121,337,378 (GRCm39) probably benign Het
Slc8a3 T C 12: 81,362,039 (GRCm39) Y260C probably damaging Het
Spin1 T A 13: 51,304,454 (GRCm39) probably benign Het
Stx2 A G 5: 129,076,572 (GRCm39) probably null Het
Sycp2 A T 2: 178,006,504 (GRCm39) V863D probably damaging Het
Tgfb3 T A 12: 86,116,658 (GRCm39) I127F possibly damaging Het
Tgif1 T G 17: 71,157,879 (GRCm39) K2Q probably damaging Het
Trmt2a A T 16: 18,068,707 (GRCm39) E234D probably damaging Het
Trps1 A T 15: 50,628,921 (GRCm39) S696T probably benign Het
Ucp1 A G 8: 84,020,857 (GRCm39) E191G probably damaging Het
Usp48 C A 4: 137,341,114 (GRCm39) D371E probably damaging Het
Usp54 A T 14: 20,623,823 (GRCm39) 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
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
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
Posted On 2013-01-08