Incidental Mutation 'IGL01630:Ak8'
ID92896
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: 0.164) question?
Stock #IGL01630
Quality Score
Status
Chromosome2
Chromosomal Location28700164-28813165 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 28712279 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 75 (M75K)
Ref Sequence ENSEMBL: ENSMUSP00000073789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074156]
Predicted Effect probably benign
Transcript: ENSMUST00000074156
AA Change: M75K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807
AA Change: M75K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123794
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,161,855 T207A possibly damaging Het
Aldh1a7 A T 19: 20,696,329 probably benign Het
Ankrd34c G A 9: 89,729,826 T154I probably damaging Het
Arrb2 A G 11: 70,436,871 I120M probably damaging Het
Atp2a1 A G 7: 126,450,265 V535A probably benign Het
Cckbr G T 7: 105,434,086 W165C probably damaging Het
Col12a1 A T 9: 79,657,366 H1677Q probably damaging Het
Fancd2 T C 6: 113,563,124 F658S probably damaging Het
Gm5581 A T 6: 131,168,296 noncoding transcript Het
H2-M3 A G 17: 37,270,657 E70G possibly damaging Het
Hltf A G 3: 20,082,904 probably benign Het
Ighv1-24 C A 12: 114,773,053 V76F probably benign Het
Igkv1-110 A T 6: 68,271,161 R85W probably damaging Het
Kif9 A C 9: 110,485,070 R43S probably benign Het
Klf11 T C 12: 24,660,369 I472T probably benign Het
Napsa A G 7: 44,586,665 Y376C probably damaging Het
Notch2 C T 3: 98,146,618 A2199V possibly damaging Het
Olfr390 A G 11: 73,787,861 K308E probably benign Het
Olfr713 A T 7: 107,037,111 probably benign Het
Pcnt T A 10: 76,420,246 D720V probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptk6 T C 2: 181,197,066 E298G probably damaging Het
Rbm27 T A 18: 42,301,840 L323H probably damaging Het
Sall3 A G 18: 80,971,269 L1076P probably benign Het
Sprr2h A G 3: 92,386,951 N35S unknown Het
Susd1 T C 4: 59,365,817 D412G possibly damaging Het
Ugdh T A 5: 65,416,905 M432L probably benign Het
Uggt2 C T 14: 119,042,772 V765I probably benign Het
Unc13d T C 11: 116,073,866 Q258R probably benign Het
Wdfy3 A T 5: 101,907,488 F1572Y probably benign Het
Xpo1 A G 11: 23,285,846 T645A probably benign Het
Zer1 A G 2: 30,101,831 V659A probably damaging Het
Other mutations in Ak8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Ak8 APN 2 28742717 missense probably damaging 0.96
IGL02350:Ak8 APN 2 28700213 missense probably benign 0.00
IGL02357:Ak8 APN 2 28700213 missense probably benign 0.00
IGL02363:Ak8 APN 2 28812898 missense probably damaging 0.96
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
X0018:Ak8 UTSW 2 28734397 missense probably damaging 1.00
Posted On2013-12-09