Incidental Mutation '7510:Ankmy2'
ID135
Institutional Source Beutler Lab
Gene Symbol Ankmy2
Ensembl Gene ENSMUSG00000036188
Gene Nameankyrin repeat and MYND domain containing 2
Synonyms
Accession Numbers

Genbank: NM_146033; MGI: 2144755

Is this an essential gene? Probably essential (E-score: 0.807) question?
Stock #7510 (G3) of strain sublytic
Quality Score
Status Validated
Chromosome12
Chromosomal Location36157114-36197291 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36157412 bp
ZygosityHeterozygous
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]
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: ENSMUST00000222279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222842
Predicted Effect probably benign
Transcript: ENSMUST00000223382
Predicted Effect probably benign
Transcript: ENSMUST00000223474
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: 33,156,839 A180S probably null Homo
Slc28a1 T C 7: 81,169,269 V622A probably benign Het
Other mutations in Ankmy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01971:Ankmy2 APN 12 36193793 nonsense probably null
IGL02588:Ankmy2 APN 12 36176686 splice site probably benign
IGL02975:Ankmy2 APN 12 36193774 missense possibly damaging 0.50
IGL03076:Ankmy2 APN 12 36165918 missense probably damaging 0.98
Concise UTSW 12 36193784 missense probably damaging 1.00
PIT4520001:Ankmy2 UTSW 12 36157391 missense probably benign 0.41
R0135:Ankmy2 UTSW 12 36170435 splice site probably benign
R0319:Ankmy2 UTSW 12 36165899 missense possibly damaging 0.76
R0347:Ankmy2 UTSW 12 36193754 missense probably damaging 1.00
R0485:Ankmy2 UTSW 12 36182390 missense possibly damaging 0.94
R0557:Ankmy2 UTSW 12 36187766 missense probably benign 0.38
R1304:Ankmy2 UTSW 12 36186805 missense probably damaging 0.99
R1397:Ankmy2 UTSW 12 36170441 splice site probably benign
R1572:Ankmy2 UTSW 12 36186942 critical splice donor site probably null
R1674:Ankmy2 UTSW 12 36187669 missense probably benign
R1874:Ankmy2 UTSW 12 36165931 missense possibly damaging 0.77
R1887:Ankmy2 UTSW 12 36170468 missense possibly damaging 0.71
R1985:Ankmy2 UTSW 12 36157364 missense possibly damaging 0.86
R1996:Ankmy2 UTSW 12 36193797 missense probably benign 0.00
R4964:Ankmy2 UTSW 12 36186918 missense possibly damaging 0.69
R5534:Ankmy2 UTSW 12 36182492 missense probably damaging 0.96
R5606:Ankmy2 UTSW 12 36165921 missense probably benign 0.19
R5614:Ankmy2 UTSW 12 36193784 missense probably damaging 1.00
R5906:Ankmy2 UTSW 12 36176633 missense probably damaging 1.00
R6427:Ankmy2 UTSW 12 36187711 missense possibly damaging 0.49
R7065:Ankmy2 UTSW 12 36187708 missense probably damaging 0.96
R7135:Ankmy2 UTSW 12 36196312 missense probably benign
R7705:Ankmy2 UTSW 12 36195108 missense probably benign 0.37
R7721:Ankmy2 UTSW 12 36157144 unclassified probably benign
R8492:Ankmy2 UTSW 12 36176591 missense probably damaging 1.00
Z1176:Ankmy2 UTSW 12 36186859 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 On2010-03-12