Incidental Mutation 'IGL01630:Ak8'
ID 92896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ak8
Ensembl Gene ENSMUSG00000026807
Gene Name adenylate kinase 8
Synonyms 1190002A17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL01630
Quality Score
Status
Chromosome 2
Chromosomal Location 28590176-28703177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28602291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 75 (M75K)
Ref Sequence ENSEMBL: ENSMUSP00000073789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074156]
AlphaFold Q32M07
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: 98,069,171 (GRCm39) T207A possibly damaging Het
Aldh1a7 A T 19: 20,673,693 (GRCm39) probably benign Het
Ankrd34c G A 9: 89,611,879 (GRCm39) T154I probably damaging Het
Arrb2 A G 11: 70,327,697 (GRCm39) I120M probably damaging Het
Atp2a1 A G 7: 126,049,437 (GRCm39) V535A probably benign Het
Cckbr G T 7: 105,083,293 (GRCm39) W165C probably damaging Het
Col12a1 A T 9: 79,564,648 (GRCm39) H1677Q probably damaging Het
Fancd2 T C 6: 113,540,085 (GRCm39) F658S probably damaging Het
Gm5581 A T 6: 131,145,259 (GRCm39) noncoding transcript Het
H2-M3 A G 17: 37,581,548 (GRCm39) E70G possibly damaging Het
Hltf A G 3: 20,137,068 (GRCm39) probably benign Het
Ighv1-24 C A 12: 114,736,673 (GRCm39) V76F probably benign Het
Igkv1-110 A T 6: 68,248,145 (GRCm39) R85W probably damaging Het
Kif9 A C 9: 110,314,138 (GRCm39) R43S probably benign Het
Klf11 T C 12: 24,710,368 (GRCm39) I472T probably benign Het
Napsa A G 7: 44,236,089 (GRCm39) Y376C probably damaging Het
Notch2 C T 3: 98,053,934 (GRCm39) A2199V possibly damaging Het
Or10a5 A T 7: 106,636,318 (GRCm39) probably benign Het
Or1e30 A G 11: 73,678,687 (GRCm39) K308E probably benign Het
Pcnt T A 10: 76,256,080 (GRCm39) D720V probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ptk6 T C 2: 180,838,859 (GRCm39) E298G probably damaging Het
Rbm27 T A 18: 42,434,905 (GRCm39) L323H probably damaging Het
Sall3 A G 18: 81,014,484 (GRCm39) L1076P probably benign Het
Sprr2h A G 3: 92,294,258 (GRCm39) N35S unknown Het
Susd1 T C 4: 59,365,817 (GRCm39) D412G possibly damaging Het
Ugdh T A 5: 65,574,248 (GRCm39) M432L probably benign Het
Uggt2 C T 14: 119,280,184 (GRCm39) V765I probably benign Het
Unc13d T C 11: 115,964,692 (GRCm39) Q258R probably benign Het
Wdfy3 A T 5: 102,055,354 (GRCm39) F1572Y probably benign Het
Xpo1 A G 11: 23,235,846 (GRCm39) T645A probably benign Het
Zer1 A G 2: 29,991,843 (GRCm39) V659A probably damaging Het
Other mutations in Ak8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Ak8 APN 2 28,632,729 (GRCm39) missense probably damaging 0.96
IGL02350:Ak8 APN 2 28,590,225 (GRCm39) missense probably benign 0.00
IGL02357:Ak8 APN 2 28,590,225 (GRCm39) missense probably benign 0.00
IGL02363:Ak8 APN 2 28,702,910 (GRCm39) missense probably damaging 0.96
IGL03061:Ak8 APN 2 28,632,767 (GRCm39) splice site probably benign
IGL03230:Ak8 APN 2 28,599,935 (GRCm39) splice site probably benign
even-steven UTSW 2 28,599,957 (GRCm39) nonsense probably null
R0418:Ak8 UTSW 2 28,623,868 (GRCm39) missense possibly damaging 0.69
R0631:Ak8 UTSW 2 28,625,677 (GRCm39) missense probably damaging 1.00
R1511:Ak8 UTSW 2 28,632,758 (GRCm39) missense probably benign
R1706:Ak8 UTSW 2 28,650,007 (GRCm39) missense possibly damaging 0.94
R1778:Ak8 UTSW 2 28,602,333 (GRCm39) missense probably benign 0.03
R2872:Ak8 UTSW 2 28,632,732 (GRCm39) missense possibly damaging 0.96
R2872:Ak8 UTSW 2 28,632,732 (GRCm39) missense possibly damaging 0.96
R3885:Ak8 UTSW 2 28,623,897 (GRCm39) missense possibly damaging 0.94
R4732:Ak8 UTSW 2 28,650,083 (GRCm39) missense probably damaging 0.98
R4733:Ak8 UTSW 2 28,650,083 (GRCm39) missense probably damaging 0.98
R6339:Ak8 UTSW 2 28,624,460 (GRCm39) splice site probably null
R6351:Ak8 UTSW 2 28,625,638 (GRCm39) missense probably benign 0.02
R6751:Ak8 UTSW 2 28,599,957 (GRCm39) nonsense probably null
R7320:Ak8 UTSW 2 28,703,004 (GRCm39) missense probably damaging 1.00
R7330:Ak8 UTSW 2 28,702,947 (GRCm39) missense possibly damaging 0.73
R7787:Ak8 UTSW 2 28,602,324 (GRCm39) missense probably damaging 1.00
R8005:Ak8 UTSW 2 28,602,314 (GRCm39) missense probably benign 0.01
R8412:Ak8 UTSW 2 28,629,643 (GRCm39) missense probably benign
R8870:Ak8 UTSW 2 28,625,602 (GRCm39) missense probably benign 0.26
R9400:Ak8 UTSW 2 28,650,011 (GRCm39) missense probably benign 0.29
X0018:Ak8 UTSW 2 28,624,409 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09