Incidental Mutation 'R7721:Ankmy2'
ID 628524
Institutional Source Beutler Lab
Gene Symbol Ankmy2
Ensembl Gene ENSMUSG00000036188
Gene Name ankyrin repeat and MYND domain containing 2
Synonyms
MMRRC Submission 045777-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.709) question?
Stock # R7721 (G1)
Quality Score 47.0072
Status Validated
Chromosome 12
Chromosomal Location 36207123-36247290 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 36207143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020856] [ENSMUST00000041640] [ENSMUST00000220763] [ENSMUST00000220828] [ENSMUST00000221388] [ENSMUST00000223382] [ENSMUST00000223474]
AlphaFold Q3TPE9
Predicted Effect probably benign
Transcript: ENSMUST00000020856
SMART Domains Protein: ENSMUSP00000020856
Gene: ENSMUSG00000020547

DomainStartEndE-ValueType
eIF5C 326 411 3.29e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041640
SMART Domains Protein: ENSMUSP00000039484
Gene: ENSMUSG00000036188

DomainStartEndE-ValueType
ANK 45 74 1.1e-6 SMART
ANK 79 108 7.83e-3 SMART
ANK 112 143 9.33e2 SMART
Pfam:zf-MYND 320 357 6.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220763
Predicted Effect probably benign
Transcript: ENSMUST00000220828
Predicted Effect probably benign
Transcript: ENSMUST00000221388
Predicted Effect probably benign
Transcript: ENSMUST00000223382
Predicted Effect probably benign
Transcript: ENSMUST00000223474
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (51/52)
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,784,929 (GRCm39) probably null Het
Adamtsl3 T G 7: 82,255,728 (GRCm39) M1580R possibly damaging Het
Alg9 T C 9: 50,687,942 (GRCm39) I78T probably damaging Het
Ankrd11 G T 8: 123,621,498 (GRCm39) L785M probably damaging Het
Atrnl1 T A 19: 57,684,763 (GRCm39) D796E probably benign Het
C1s2 A G 6: 124,607,017 (GRCm39) V277A possibly damaging Het
Ccdc121rt3 A G 5: 112,503,383 (GRCm39) I107T probably benign Het
Cldn15 A G 5: 136,997,015 (GRCm39) M19V probably benign Het
Cldn23 T G 8: 36,293,417 (GRCm39) S24R possibly damaging Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Csf2ra A T 19: 61,215,024 (GRCm39) W147R probably damaging Het
Ctsb G T 14: 63,370,765 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,088,874 (GRCm39) M34T probably benign Het
Dmtf1 T C 5: 9,176,564 (GRCm39) I463V probably damaging Het
Dnah7a T A 1: 53,670,842 (GRCm39) D470V probably benign Het
Dtx4 A G 19: 12,459,500 (GRCm39) S435P probably benign Het
Ear2 T A 14: 44,340,495 (GRCm39) M51K probably damaging Het
Efcab3 T A 11: 104,615,366 (GRCm39) L711* probably null Het
Elmo1 T A 13: 20,464,973 (GRCm39) probably null Het
Faf1 T A 4: 109,593,794 (GRCm39) I124N probably damaging Het
Gkap1 A C 13: 58,384,799 (GRCm39) probably null Het
Glipr2 T C 4: 43,957,770 (GRCm39) S4P probably benign Het
Gm38119 A T 3: 92,645,337 (GRCm39) C86S unknown Het
Gpr171 T G 3: 59,005,320 (GRCm39) I152L probably benign Het
Hes7 T A 11: 69,012,352 (GRCm39) T9S unknown Het
Homer3 T C 8: 70,743,662 (GRCm39) V180A probably benign Het
Irx1 T A 13: 72,108,176 (GRCm39) M169L probably benign Het
Kap A G 6: 133,828,690 (GRCm39) probably null Het
Mgat5b A G 11: 116,857,627 (GRCm39) M2V Het
Mob4 C T 1: 55,187,479 (GRCm39) Q76* probably null Het
Or10w3 T A 19: 13,704,207 (GRCm39) I194N possibly damaging Het
Or8b47 A T 9: 38,435,013 (GRCm39) probably null Het
Or8g26 A G 9: 39,096,056 (GRCm39) D191G probably benign Het
Pate14 C T 9: 36,549,159 (GRCm39) G34R possibly damaging Het
Pcdha9 A T 18: 37,132,689 (GRCm39) Q586L probably benign Het
Pgk2 T A 17: 40,518,409 (GRCm39) I340F probably benign Het
Prex1 G A 2: 166,419,810 (GRCm39) Q1289* probably null Het
Prr22 A G 17: 57,078,819 (GRCm39) D324G possibly damaging Het
Rab2b A T 14: 52,501,217 (GRCm39) S201T probably benign Het
Rdh1 T A 10: 127,596,121 (GRCm39) probably null Het
Rhbdl1 G T 17: 26,055,123 (GRCm39) N82K probably benign Het
Rspo1 C A 4: 124,885,210 (GRCm39) Q29K possibly damaging Het
Rtp3 A T 9: 110,814,948 (GRCm39) Y472* probably null Het
Senp5 T A 16: 31,809,252 (GRCm39) M1L unknown Het
Slfn4 A T 11: 83,078,389 (GRCm39) probably null Het
Stab1 A G 14: 30,863,413 (GRCm39) V2091A possibly damaging Het
Stk32c A G 7: 138,768,069 (GRCm39) S71P possibly damaging Het
Tpr A G 1: 150,320,180 (GRCm39) T2243A probably benign Het
Tubgcp6 A T 15: 88,985,604 (GRCm39) N1544K probably damaging Het
Uqcc1 T C 2: 155,700,066 (GRCm39) N202S probably benign Het
Vmn2r18 C T 5: 151,510,158 (GRCm39) E72K possibly damaging Het
Zfp654 C A 16: 64,606,570 (GRCm39) C3F probably damaging Het
Zfp804b T C 5: 6,821,263 (GRCm39) E600G possibly damaging Het
Other mutations in Ankmy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01971:Ankmy2 APN 12 36,243,792 (GRCm39) nonsense probably null
IGL02588:Ankmy2 APN 12 36,226,685 (GRCm39) splice site probably benign
IGL02975:Ankmy2 APN 12 36,243,773 (GRCm39) missense possibly damaging 0.50
IGL03076:Ankmy2 APN 12 36,215,917 (GRCm39) missense probably damaging 0.98
Concise UTSW 12 36,243,783 (GRCm39) missense probably damaging 1.00
7510:Ankmy2 UTSW 12 36,207,411 (GRCm39) missense probably benign 0.06
PIT4520001:Ankmy2 UTSW 12 36,207,390 (GRCm39) missense probably benign 0.41
R0135:Ankmy2 UTSW 12 36,220,434 (GRCm39) splice site probably benign
R0319:Ankmy2 UTSW 12 36,215,898 (GRCm39) missense possibly damaging 0.76
R0347:Ankmy2 UTSW 12 36,243,753 (GRCm39) missense probably damaging 1.00
R0485:Ankmy2 UTSW 12 36,232,389 (GRCm39) missense possibly damaging 0.94
R0557:Ankmy2 UTSW 12 36,237,765 (GRCm39) missense probably benign 0.38
R1304:Ankmy2 UTSW 12 36,236,804 (GRCm39) missense probably damaging 0.99
R1397:Ankmy2 UTSW 12 36,220,440 (GRCm39) splice site probably benign
R1572:Ankmy2 UTSW 12 36,236,941 (GRCm39) critical splice donor site probably null
R1674:Ankmy2 UTSW 12 36,237,668 (GRCm39) missense probably benign
R1874:Ankmy2 UTSW 12 36,215,930 (GRCm39) missense possibly damaging 0.77
R1887:Ankmy2 UTSW 12 36,220,467 (GRCm39) missense possibly damaging 0.71
R1985:Ankmy2 UTSW 12 36,207,363 (GRCm39) missense possibly damaging 0.86
R1996:Ankmy2 UTSW 12 36,243,796 (GRCm39) missense probably benign 0.00
R4964:Ankmy2 UTSW 12 36,236,917 (GRCm39) missense possibly damaging 0.69
R5534:Ankmy2 UTSW 12 36,232,491 (GRCm39) missense probably damaging 0.96
R5606:Ankmy2 UTSW 12 36,215,920 (GRCm39) missense probably benign 0.19
R5614:Ankmy2 UTSW 12 36,243,783 (GRCm39) missense probably damaging 1.00
R5906:Ankmy2 UTSW 12 36,226,632 (GRCm39) missense probably damaging 1.00
R6427:Ankmy2 UTSW 12 36,237,710 (GRCm39) missense possibly damaging 0.49
R7065:Ankmy2 UTSW 12 36,237,707 (GRCm39) missense probably damaging 0.96
R7135:Ankmy2 UTSW 12 36,246,311 (GRCm39) missense probably benign
R7705:Ankmy2 UTSW 12 36,245,107 (GRCm39) missense probably benign 0.37
R8492:Ankmy2 UTSW 12 36,226,590 (GRCm39) missense probably damaging 1.00
R9100:Ankmy2 UTSW 12 36,236,806 (GRCm39) missense probably damaging 0.99
Z1176:Ankmy2 UTSW 12 36,236,858 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AAGGAACCCTGTGTCCCTGTAC -3'
(R):5'- TATGTGACCCATCGTTCCCG -3'

Sequencing Primer
(F):5'- TGTGTCCCTGTACTTCTTAATAGG -3'
(R):5'- TTCCCGCCAGCTTGACG -3'
Posted On 2020-04-27