Incidental Mutation 'IGL02237:Ak5'
ID285908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ak5
Ensembl Gene ENSMUSG00000039058
Gene Nameadenylate kinase 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL02237
Quality Score
Status
Chromosome3
Chromosomal Location152462815-152668360 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 152499343 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 372 (D372V)
Ref Sequence ENSEMBL: ENSMUSP00000042785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045262]
Predicted Effect probably benign
Transcript: ENSMUST00000045262
AA Change: D372V

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: D372V

DomainStartEndE-ValueType
Pfam:AAA_17 134 263 1.1e-8 PFAM
Pfam:AAA_18 135 274 3e-10 PFAM
Pfam:ADK 137 294 5.8e-35 PFAM
Pfam:AAA_17 378 525 2.9e-8 PFAM
Pfam:ADK 381 537 1.9e-45 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000200062
AA Change: D30V
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 member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T A 2: 181,493,557 V84E probably benign Het
Adam39 A T 8: 40,825,445 E291V probably benign Het
Brpf1 C T 6: 113,310,375 P188L probably damaging Het
Cacna2d3 C T 14: 29,346,997 V258I probably benign Het
Cd14 A G 18: 36,725,859 F181S probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cts6 A T 13: 61,197,499 D261E probably benign Het
Daam1 A G 12: 71,982,721 T897A probably benign Het
Ddx25 T A 9: 35,542,069 probably benign Het
Ddx55 A G 5: 124,567,895 E461G probably damaging Het
Degs1 T C 1: 182,279,688 K2R probably damaging Het
Drc7 C T 8: 95,072,879 L561F probably damaging Het
Eif4enif1 A T 11: 3,227,876 K423* probably null Het
Epha7 A G 4: 28,949,325 probably null Het
Erich5 A C 15: 34,471,336 E237A probably benign Het
Ficd A G 5: 113,738,312 T183A probably damaging Het
Foxb2 T C 19: 16,873,544 M33V unknown Het
Gja8 T G 3: 96,919,933 S138R probably benign Het
Gm28042 T G 2: 120,039,899 L743V possibly damaging Het
Gtf3c2 A T 5: 31,159,053 probably benign Het
Itga11 T C 9: 62,755,775 probably null Het
Kazn A T 4: 142,147,099 D315E probably benign Het
Kbtbd2 A T 6: 56,779,048 S568T possibly damaging Het
Man1c1 A C 4: 134,584,298 probably null Het
Myh9 A G 15: 77,786,654 S463P probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Oog2 T A 4: 144,196,446 F427Y possibly damaging Het
Pcmtd1 T C 1: 7,163,377 probably null Het
Pcnt C A 10: 76,352,984 D2861Y probably damaging Het
Pdzd7 C T 19: 45,040,258 A149T probably damaging Het
Pebp4 A T 14: 70,059,656 T215S possibly damaging Het
Pgm2 T C 4: 99,963,510 probably benign Het
Plekhh2 T A 17: 84,575,785 D760E probably benign Het
Pomt1 T C 2: 32,245,677 I351T probably benign Het
Ptpn21 C T 12: 98,705,092 probably null Het
Rsad2 T G 12: 26,456,187 Y78S probably damaging Het
Rsbn1l A T 5: 20,919,606 N399K probably benign Het
Sec31a A G 5: 100,362,055 V1191A probably damaging Het
Sema6c C T 3: 95,170,119 P414L probably damaging Het
Serpinb5 T C 1: 106,880,326 S69P probably benign Het
Slc25a13 C T 6: 6,042,646 R586H probably damaging Het
Spink5 T A 18: 44,012,867 M776K probably benign Het
Srcap A G 7: 127,534,692 probably benign Het
Stt3a G A 9: 36,749,637 Q293* probably null Het
Syne4 T A 7: 30,316,563 probably null Het
Tomm40l C T 1: 171,220,894 V97M possibly damaging Het
Trpc4 C T 3: 54,222,362 S183F probably damaging Het
Ttn C T 2: 76,886,134 probably benign Het
Ufl1 A C 4: 25,269,082 S170A probably benign Het
Vmn2r66 G A 7: 84,994,700 T834I probably benign Het
Vmn2r75 A G 7: 86,165,578 S236P possibly damaging Het
Zfp345 A T 2: 150,474,885 probably benign Het
Zfp955b T C 17: 33,301,919 S121P probably damaging Het
Other mutations in Ak5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02178:Ak5 APN 3 152526785 missense probably benign 0.28
IGL02661:Ak5 APN 3 152463956 missense probably benign
IGL03097:Ak5 UTSW 3 152660514 critical splice donor site probably null
R0645:Ak5 UTSW 3 152653615 missense probably damaging 1.00
R1135:Ak5 UTSW 3 152653662 missense probably damaging 1.00
R1346:Ak5 UTSW 3 152533434 missense probably damaging 1.00
R1347:Ak5 UTSW 3 152533434 missense probably damaging 1.00
R1347:Ak5 UTSW 3 152533434 missense probably damaging 1.00
R1349:Ak5 UTSW 3 152533434 missense probably damaging 1.00
R1749:Ak5 UTSW 3 152472920 missense probably damaging 0.99
R2059:Ak5 UTSW 3 152660637 missense probably damaging 1.00
R3929:Ak5 UTSW 3 152667807 missense probably damaging 0.98
R4433:Ak5 UTSW 3 152655880 missense probably damaging 1.00
R4909:Ak5 UTSW 3 152655877 missense probably damaging 1.00
R5052:Ak5 UTSW 3 152660567 missense probably benign 0.00
R5097:Ak5 UTSW 3 152481633 missense probably damaging 0.99
R5645:Ak5 UTSW 3 152656033 missense possibly damaging 0.92
R5907:Ak5 UTSW 3 152615952 missense probably damaging 1.00
R6505:Ak5 UTSW 3 152481669 missense probably benign 0.01
R7117:Ak5 UTSW 3 152615856 critical splice donor site probably null
X0023:Ak5 UTSW 3 152616027 missense probably damaging 1.00
X0024:Ak5 UTSW 3 152653597 missense probably damaging 1.00
Posted On2015-04-16