Incidental Mutation '7510:Ankmy2'
ID 135
Institutional Source Beutler Lab
Gene Symbol Ankmy2
Ensembl Gene ENSMUSG00000036188
Gene Name ankyrin repeat and MYND domain containing 2
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.709) question?
Stock # 7510 (G3) of strain sublytic
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 36207123-36247290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36207411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 19 (V19A)
Ref Sequence ENSEMBL: ENSMUSP00000039484 (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
AA Change: V19A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000039484
Gene: ENSMUSG00000036188
AA Change: V19A

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 noncoding transcript
Transcript: ENSMUST00000220580
Predicted Effect probably benign
Transcript: ENSMUST00000220763
Predicted Effect probably benign
Transcript: ENSMUST00000220828
Predicted Effect probably benign
Transcript: ENSMUST00000221388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222842
Predicted Effect probably benign
Transcript: ENSMUST00000223382
Predicted Effect probably benign
Transcript: ENSMUST00000223474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222279
Meta Mutation Damage Score 0.0883 question?
Coding Region Coverage
  • 1x: 86.9%
  • 3x: 65.5%
Validation Efficiency 84% (77/92)
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 2 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Camk4 G T 18: 33,289,892 (GRCm39) A180S probably null Homo
Slc28a1 T C 7: 80,819,017 (GRCm39) V622A probably benign 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
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
R7721:Ankmy2 UTSW 12 36,207,143 (GRCm39) unclassified probably benign
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
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 289 of the Ankmy2 transcript. Two transcripts of the Ankmy2 gene are displayed on Ensembl. The mutation causes a valine to alanine change at amino acid 622 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Ankmy2 gene encodes a 440 amino acid protein. ANKMY2 contains three ankyrin (ANK) domains at amino acids 45-74, 79-108 and 159-188, as well as a MYND-type zinc finger at residues 320-357 (Uniprot Q3TPE9)
 
The V19A change is predicted to be benign by the PolyPhen program.
Posted On 2010-03-12