Incidental Mutation 'IGL01407:Ak1'
ID79858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ak1
Ensembl Gene ENSMUSG00000026817
Gene Nameadenylate kinase 1
SynonymsAk-1, B430205N08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #IGL01407
Quality Score
Status
Chromosome2
Chromosomal Location32621758-32635058 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 32633495 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068271] [ENSMUST00000113277] [ENSMUST00000113278] [ENSMUST00000156578] [ENSMUST00000195721]
Predicted Effect probably benign
Transcript: ENSMUST00000068271
SMART Domains Protein: ENSMUSP00000068479
Gene: ENSMUSG00000026817

DomainStartEndE-ValueType
Pfam:AAA_33 26 173 2.7e-10 PFAM
Pfam:AAA_17 26 194 5.4e-8 PFAM
Pfam:ADK 29 185 1.3e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113277
SMART Domains Protein: ENSMUSP00000108902
Gene: ENSMUSG00000026817

DomainStartEndE-ValueType
Pfam:AAA_33 10 159 2.7e-10 PFAM
Pfam:AAA_17 10 171 5.4e-11 PFAM
Pfam:AAA_18 11 149 7.6e-8 PFAM
Pfam:ADK 13 169 7.5e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113278
SMART Domains Protein: ENSMUSP00000108903
Gene: ENSMUSG00000026817

DomainStartEndE-ValueType
Pfam:AAA_33 10 159 2.7e-10 PFAM
Pfam:AAA_17 10 171 5.4e-11 PFAM
Pfam:AAA_18 11 149 7.6e-8 PFAM
Pfam:ADK 13 169 7.5e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135392
Predicted Effect probably benign
Transcript: ENSMUST00000156578
SMART Domains Protein: ENSMUSP00000123534
Gene: ENSMUSG00000026817

DomainStartEndE-ValueType
Pfam:AAA_17 10 86 1.5e-10 PFAM
Pfam:ADK 13 89 3.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195721
SMART Domains Protein: ENSMUSP00000142174
Gene: ENSMUSG00000026817

DomainStartEndE-ValueType
Pfam:ADK 13 96 2e-32 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 an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased adenosine triphosphate (ATP) turnover and reduced efficiency of ATP utilization during muscle contraction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,245,944 D1140V probably damaging Het
Ano1 A T 7: 144,637,111 L411H probably benign Het
Atad2 A T 15: 58,104,525 N569K probably benign Het
Bst2 C A 8: 71,537,186 R81L probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Chrna5 C T 9: 55,004,399 T57M possibly damaging Het
Cp A T 3: 19,977,205 D602V possibly damaging Het
Drd2 T C 9: 49,400,815 I156T probably damaging Het
Elp4 G A 2: 105,792,308 R349W probably damaging Het
Eml6 G A 11: 29,755,021 R1508* probably null Het
Etl4 T C 2: 20,743,856 L335S probably damaging Het
Fat3 A T 9: 16,378,023 I68K probably benign Het
Fyco1 G T 9: 123,828,879 A744D probably damaging Het
Gm22165 G T 3: 64,105,465 probably benign Het
Gse1 T C 8: 120,553,587 M1T probably null Het
Hs3st5 A T 10: 36,833,408 H313L probably damaging Het
Hsd17b3 T C 13: 64,062,905 Y212C probably damaging Het
Hyal5 G T 6: 24,876,407 S93I probably benign Het
Itgb1 T C 8: 128,722,834 V578A probably benign Het
Klf12 A T 14: 100,109,858 N12K possibly damaging Het
Krt40 C T 11: 99,541,219 C222Y probably damaging Het
Lrrn2 T C 1: 132,937,227 L10P probably damaging Het
Lrsam1 T C 2: 32,947,903 Y213C probably damaging Het
Mitf C A 6: 98,017,931 T277K possibly damaging Het
Ncan C T 8: 70,101,957 R1070H probably benign Het
Nr4a3 A G 4: 48,083,201 E578G probably benign Het
Patj A G 4: 98,413,050 T191A possibly damaging Het
Pign A G 1: 105,589,302 V533A probably benign Het
Smad5 G A 13: 56,735,817 V339I probably benign Het
Spem2 T A 11: 69,817,239 Y300F possibly damaging Het
Trank1 T G 9: 111,364,722 S605A probably damaging Het
Treml4 T A 17: 48,264,849 D93E possibly damaging Het
Tsc22d2 T A 3: 58,416,503 V272E probably damaging Het
Vmn2r19 T A 6: 123,329,867 F445I possibly damaging Het
Zfp712 T A 13: 67,042,166 Q99L possibly damaging Het
Zfp719 A T 7: 43,584,187 K10I probably benign Het
Other mutations in Ak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1472:Ak1 UTSW 2 32630301 missense probably damaging 1.00
R1476:Ak1 UTSW 2 32633466 missense probably benign
R1876:Ak1 UTSW 2 32630270 missense probably damaging 0.99
R2004:Ak1 UTSW 2 32629610 missense probably benign
R4067:Ak1 UTSW 2 32629581 missense probably benign 0.05
R4246:Ak1 UTSW 2 32633372 missense possibly damaging 0.54
R4873:Ak1 UTSW 2 32631177 missense probably benign 0.28
R4875:Ak1 UTSW 2 32631177 missense probably benign 0.28
R5076:Ak1 UTSW 2 32633448 missense probably damaging 1.00
R6187:Ak1 UTSW 2 32633477 missense probably damaging 0.99
R6458:Ak1 UTSW 2 32630373 missense probably damaging 1.00
R6818:Ak1 UTSW 2 32630373 missense probably damaging 1.00
R6917:Ak1 UTSW 2 32631152 missense possibly damaging 0.86
R6919:Ak1 UTSW 2 32631122 missense possibly damaging 0.62
R8238:Ak1 UTSW 2 32633669 missense probably damaging 1.00
R8803:Ak1 UTSW 2 32633478 missense probably benign 0.28
Z1088:Ak1 UTSW 2 32630271 missense probably damaging 1.00
Posted On2013-11-05