Incidental Mutation 'IGL00592:Ak6'
ID4247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ak6
Ensembl Gene ENSMUSG00000078941
Gene Nameadenylate kinase 6
Synonyms2810046E22Rik, 4921516M08Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL00592
Quality Score
Status
Chromosome13
Chromosomal Location100650979-100666359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100664091 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 74 (V74A)
Ref Sequence ENSEMBL: ENSMUSP00000022135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022135]
Predicted Effect probably benign
Transcript: ENSMUST00000022135
AA Change: V74A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022135
Gene: ENSMUSG00000078941
AA Change: V74A

DomainStartEndE-ValueType
Pfam:AAA_17 5 113 1.1e-13 PFAM
Pfam:AAA 6 45 3.6e-6 PFAM
Pfam:AAA_18 6 126 2e-30 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,420,636 I91V probably damaging Het
Antxr1 C A 6: 87,288,802 V110F probably damaging Het
Anxa1 T C 19: 20,377,669 D247G probably benign Het
Dgkg T C 16: 22,479,362 probably benign Het
Eva1b T C 4: 126,149,650 M161T probably benign Het
Fbxw22 C A 9: 109,384,040 V280F possibly damaging Het
Klhl9 A G 4: 88,721,141 S288P probably damaging Het
Masp2 C T 4: 148,602,729 P23S probably benign Het
Ncam1 T A 9: 49,523,565 D600V probably damaging Het
Pcnx4 A G 12: 72,579,365 N1115S probably damaging Het
Pdia2 A G 17: 26,198,116 V109A probably damaging Het
Pla1a G T 16: 38,414,850 H161N probably damaging Het
Prokr2 A T 2: 132,381,504 D39E probably benign Het
Sall4 T C 2: 168,755,963 D319G probably damaging Het
Sgms2 A G 3: 131,341,833 S131P possibly damaging Het
Slc22a2 A T 17: 12,608,418 Q319L possibly damaging Het
Slc27a5 A G 7: 12,988,639 I636T probably benign Het
Tas2r131 T G 6: 132,957,196 T217P probably damaging Het
Trh T C 6: 92,242,742 M198V possibly damaging Het
Ube2b A C 11: 51,986,719 V141G probably damaging Het
Ube2l6 T A 2: 84,809,029 V112E probably damaging Het
Vmn1r79 T C 7: 12,177,007 I272T probably benign Het
Xylb C T 9: 119,390,483 Q513* probably null Het
Zbtb4 T A 11: 69,776,731 C287* probably null Het
Other mutations in Ak6
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4151001:Ak6 UTSW 13 100655095 missense probably damaging 0.98
R0189:Ak6 UTSW 13 100655142 missense probably damaging 1.00
R1716:Ak6 UTSW 13 100655669 missense probably benign
R1736:Ak6 UTSW 13 100655181 unclassified probably null
R4351:Ak6 UTSW 13 100655603 nonsense probably null
R4625:Ak6 UTSW 13 100655673 missense probably benign 0.00
R5690:Ak6 UTSW 13 100655621 unclassified probably null
R5711:Ak6 UTSW 13 100654214 missense probably damaging 0.97
R5870:Ak6 UTSW 13 100655424 missense probably damaging 1.00
R6018:Ak6 UTSW 13 100665951 nonsense probably null
R6386:Ak6 UTSW 13 100655803 unclassified probably benign
R7524:Ak6 UTSW 13 100663907 missense probably benign
Posted On2012-04-20