Incidental Mutation 'IGL02363:Ak8'
ID290625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ak8
Ensembl Gene ENSMUSG00000026807
Gene Nameadenylate kinase 8
Synonyms1190002A17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02363
Quality Score
Status
Chromosome2
Chromosomal Location28700164-28813165 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28812898 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 425 (S425P)
Ref Sequence ENSEMBL: ENSMUSP00000073789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074156]
Predicted Effect probably damaging
Transcript: ENSMUST00000074156
AA Change: S425P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807
AA Change: S425P

DomainStartEndE-ValueType
Pfam:AAA_33 60 186 6.2e-8 PFAM
Pfam:AAA_18 60 191 2.3e-9 PFAM
Pfam:ADK 62 237 5.5e-16 PFAM
Pfam:ADK 273 452 1.6e-28 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap insertion exhibit mild hydrocephalus, dilation of the lateral brain ventricles and reduced size of the hippocampus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,218,437 H1490L possibly damaging Het
Comt T C 16: 18,411,131 D153G probably benign Het
Exoc6 T C 19: 37,608,954 I601T probably damaging Het
F11 A T 8: 45,241,531 C598S probably damaging Het
Galnt13 G T 2: 55,112,860 D524Y probably damaging Het
Glb1l3 T C 9: 26,853,644 E157G probably damaging Het
Hc T C 2: 35,000,835 H1323R probably benign Het
Hsd3b5 T C 3: 98,630,105 I32V probably benign Het
Il6ra A G 3: 89,871,253 S430P probably benign Het
Lama2 G T 10: 27,366,066 T298K probably damaging Het
Nedd4l T C 18: 65,208,045 probably benign Het
Ntrk3 T C 7: 78,453,337 D405G probably benign Het
Opn5 T C 17: 42,557,491 D371G probably benign Het
Pcdh15 G T 10: 74,317,086 A408S probably damaging Het
Pim3 T C 15: 88,862,913 V54A probably benign Het
Prdm5 T C 6: 65,794,319 F38S probably damaging Het
Ptgs2 C T 1: 150,105,709 probably null Het
Rnf185 A G 11: 3,418,015 I221T possibly damaging Het
Slc27a2 T C 2: 126,578,950 F318L possibly damaging Het
Spata1 T C 3: 146,487,364 Y124C possibly damaging Het
Tmie G T 9: 110,870,753 probably benign Het
Tph2 T C 10: 115,079,981 K429R probably benign Het
Usp32 A G 11: 85,044,787 Y388H probably benign Het
Vmn2r60 A T 7: 42,195,154 Q647L probably benign Het
Other mutations in Ak8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Ak8 APN 2 28742717 missense probably damaging 0.96
IGL01630:Ak8 APN 2 28712279 missense probably benign 0.01
IGL02350:Ak8 APN 2 28700213 missense probably benign 0.00
IGL02357:Ak8 APN 2 28700213 missense probably benign 0.00
IGL03061:Ak8 APN 2 28742755 splice site probably benign
IGL03230:Ak8 APN 2 28709923 splice site probably benign
even-steven UTSW 2 28709945 nonsense probably null
R0418:Ak8 UTSW 2 28733856 missense possibly damaging 0.69
R0631:Ak8 UTSW 2 28735665 missense probably damaging 1.00
R1511:Ak8 UTSW 2 28742746 missense probably benign
R1706:Ak8 UTSW 2 28759995 missense possibly damaging 0.94
R1778:Ak8 UTSW 2 28712321 missense probably benign 0.03
R2872:Ak8 UTSW 2 28742720 missense possibly damaging 0.96
R2872:Ak8 UTSW 2 28742720 missense possibly damaging 0.96
R3885:Ak8 UTSW 2 28733885 missense possibly damaging 0.94
R4732:Ak8 UTSW 2 28760071 missense probably damaging 0.98
R4733:Ak8 UTSW 2 28760071 missense probably damaging 0.98
R6339:Ak8 UTSW 2 28734448 splice site probably null
R6351:Ak8 UTSW 2 28735626 missense probably benign 0.02
R6751:Ak8 UTSW 2 28709945 nonsense probably null
R7320:Ak8 UTSW 2 28812992 missense probably damaging 1.00
R7330:Ak8 UTSW 2 28812935 missense possibly damaging 0.73
R7787:Ak8 UTSW 2 28712312 missense probably damaging 1.00
R8005:Ak8 UTSW 2 28712302 missense probably benign 0.01
R8412:Ak8 UTSW 2 28739631 missense probably benign
X0018:Ak8 UTSW 2 28734397 missense probably damaging 1.00
Posted On2015-04-16