Incidental Mutation 'R6885:Ankar'
ID 536762
Institutional Source Beutler Lab
Gene Symbol Ankar
Ensembl Gene ENSMUSG00000039342
Gene Name ankyrin and armadillo repeat containing
Synonyms 4932422E22Rik
MMRRC Submission 045031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6885 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 72682139-72739738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72682195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1239 (A1239T)
Ref Sequence ENSEMBL: ENSMUSP00000148640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573]
AlphaFold A2RT91
Predicted Effect unknown
Transcript: ENSMUST00000053499
AA Change: A1457T
SMART Domains Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: A1457T

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 unknown
Transcript: ENSMUST00000211837
AA Change: A1456T
Predicted Effect unknown
Transcript: ENSMUST00000212573
AA Change: A1239T
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,119,332 (GRCm39) I1025M probably benign Het
Adamtsl5 T A 10: 80,179,465 (GRCm39) T164S probably benign Het
Aox4 A T 1: 58,303,537 (GRCm39) S1192C probably damaging Het
Atl2 T C 17: 80,159,982 (GRCm39) D68G probably damaging Het
Btnl4 T C 17: 34,691,919 (GRCm39) I228V probably benign Het
Catsper4 T C 4: 133,942,460 (GRCm39) T231A probably benign Het
Ccl12 A T 11: 81,993,523 (GRCm39) T54S probably damaging Het
Cntn1 T C 15: 92,140,980 (GRCm39) probably null Het
Cog5 T A 12: 31,944,198 (GRCm39) D694E probably damaging Het
Crat T A 2: 30,305,208 (GRCm39) probably benign Het
Crot T C 5: 9,023,635 (GRCm39) T418A probably benign Het
Cubn G A 2: 13,323,089 (GRCm39) P2826L probably damaging Het
Dnah17 A G 11: 117,981,598 (GRCm39) F1698L possibly damaging Het
Dock8 T A 19: 25,124,742 (GRCm39) D1019E possibly damaging Het
Eps15 A G 4: 109,166,361 (GRCm39) N85D probably damaging Het
Exoc1 T C 5: 76,706,889 (GRCm39) S457P probably damaging Het
Ext1 G A 15: 52,965,088 (GRCm39) T426I probably damaging Het
Fat1 T C 8: 45,405,489 (GRCm39) S747P possibly damaging Het
Gas7 A G 11: 67,574,213 (GRCm39) D396G probably damaging Het
Gm5114 G T 7: 39,057,580 (GRCm39) R680S probably benign Het
Gpcpd1 A T 2: 132,395,994 (GRCm39) L94M possibly damaging Het
Gse1 C A 8: 120,956,221 (GRCm39) probably benign Het
Hmgb1 T C 5: 148,987,471 (GRCm39) E26G probably benign Het
Incenp C T 19: 9,852,496 (GRCm39) R714Q unknown Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Ksr1 A G 11: 78,938,121 (GRCm39) probably null Het
Lpin2 T G 17: 71,522,145 (GRCm39) S60A probably damaging Het
Lrrc71 T C 3: 87,649,927 (GRCm39) probably null Het
Mafb A G 2: 160,207,939 (GRCm39) S220P possibly damaging Het
Maml3 TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC 3: 51,605,000 (GRCm39) Het
Mcmbp T C 7: 128,326,833 (GRCm39) probably null Het
Or1e30 A T 11: 73,677,926 (GRCm39) H54L possibly damaging Het
Or4s2 A G 2: 88,473,941 (GRCm39) T277A probably damaging Het
Paqr9 T C 9: 95,442,096 (GRCm39) S29P probably benign Het
Parm1 A G 5: 91,742,069 (GRCm39) T146A possibly damaging Het
Pgm2 T A 5: 64,261,221 (GRCm39) F238L probably benign Het
Pigv A T 4: 133,392,792 (GRCm39) F126Y probably damaging Het
Pitx2 T C 3: 129,012,257 (GRCm39) M222T probably damaging Het
Plekhg6 T C 6: 125,355,693 (GRCm39) N37S probably benign Het
Pramel25 T C 4: 143,520,103 (GRCm39) C116R probably damaging Het
Psme4 A T 11: 30,784,307 (GRCm39) K961* probably null Het
Rbpj T C 5: 53,810,493 (GRCm39) W392R probably damaging Het
Reg3a T A 6: 78,358,038 (GRCm39) probably null Het
Rfc3 C T 5: 151,571,749 (GRCm39) S85N probably benign Het
Rtn3 T C 19: 7,435,696 (GRCm39) T80A probably benign Het
Sash1 T C 10: 8,659,985 (GRCm39) T195A probably damaging Het
Ska1 A G 18: 74,339,910 (GRCm39) V12A probably benign Het
Slc25a1 A G 16: 17,745,294 (GRCm39) V80A probably benign Het
Slc26a5 A T 5: 22,039,342 (GRCm39) V217D probably damaging Het
Slc46a1 A G 11: 78,357,805 (GRCm39) D286G probably benign Het
Spata2l A T 8: 123,962,297 (GRCm39) L88Q probably damaging Het
Sptbn1 T G 11: 30,088,634 (GRCm39) Q876P probably benign Het
Tenm2 T A 11: 35,914,407 (GRCm39) I2377F possibly damaging Het
Thbs4 A T 13: 92,899,377 (GRCm39) D539E probably damaging Het
Tmem154 T A 3: 84,599,813 (GRCm39) C162S possibly damaging Het
Tpcn1 T C 5: 120,682,502 (GRCm39) E502G probably benign Het
Traf7 G A 17: 24,731,266 (GRCm39) R257C probably benign Het
Tsc22d2 T C 3: 58,323,629 (GRCm39) Y174H probably damaging Het
Usp8 A G 2: 126,594,230 (GRCm39) E802G probably damaging Het
Vmn1r5 T C 6: 56,963,042 (GRCm39) V239A possibly damaging Het
Vmn2r99 T A 17: 19,600,457 (GRCm39) S494T possibly damaging Het
Zbtb38 A G 9: 96,568,517 (GRCm39) F856L 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
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
Predicted Primers PCR Primer
(F):5'- CCATGTGAAATTCTGGGAAGAAATC -3'
(R):5'- CTAACGTCAAGGAGCTCTTCAGAAC -3'

Sequencing Primer
(F):5'- CATTCCCTGAAGATGCTG -3'
(R):5'- GTCAAGGAGCTCTTCAGAACAACAC -3'
Posted On 2018-10-18