Incidental Mutation 'IGL00576:Ak8'
ID 12453
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 # IGL00576
Quality Score
Status
Chromosome 2
Chromosomal Location 28590176-28703177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28632729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 316 (L316P)
Ref Sequence ENSEMBL: ENSMUSP00000073789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074156]
AlphaFold Q32M07
Predicted Effect probably damaging
Transcript: ENSMUST00000074156
AA Change: L316P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807
AA Change: L316P

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: ENSMUST00000137588
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
Ampd3 C T 7: 110,388,028 (GRCm39) probably benign Het
Arhgap42 C A 9: 8,997,621 (GRCm39) E835* probably null Het
Arid2 G A 15: 96,254,639 (GRCm39) V162M probably damaging Het
Atp2a2 C T 5: 122,596,146 (GRCm39) probably null Het
Bmper A G 9: 23,317,899 (GRCm39) D506G probably damaging Het
Clca4b A G 3: 144,631,108 (GRCm39) F251L probably damaging Het
Col12a1 T C 9: 79,554,934 (GRCm39) D2048G probably damaging Het
Dnhd1 G A 7: 105,341,882 (GRCm39) S1227N probably damaging Het
Dpp8 T A 9: 64,951,111 (GRCm39) H182Q probably benign Het
Drosha A G 15: 12,883,280 (GRCm39) K798E probably damaging Het
Gbp8 A G 5: 105,165,754 (GRCm39) probably benign Het
Hectd1 A G 12: 51,806,092 (GRCm39) I1843T probably damaging Het
Kansl1l T C 1: 66,763,733 (GRCm39) N772S possibly damaging Het
Lrrc37 A G 11: 103,508,212 (GRCm39) probably benign Het
Ndst2 T C 14: 20,774,552 (GRCm39) R835G probably benign Het
Psme4 T C 11: 30,773,145 (GRCm39) V836A possibly damaging Het
Ptpn21 G A 12: 98,699,860 (GRCm39) S18F probably damaging Het
Reln T C 5: 22,359,948 (GRCm39) H192R probably benign Het
Tcf20 A G 15: 82,740,276 (GRCm39) F392L probably damaging Het
Ttc21a T C 9: 119,794,885 (GRCm39) F1024L probably damaging Het
Vezf1 T A 11: 87,964,470 (GRCm39) C19* probably null Het
Wdr47 A G 3: 108,526,050 (GRCm39) N191S probably benign Het
Zfp7 T G 15: 76,775,101 (GRCm39) probably benign Het
Zfp933 A T 4: 147,910,778 (GRCm39) C273S probably damaging Het
Other mutations in Ak8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Ak8 APN 2 28,602,291 (GRCm39) missense probably benign 0.01
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 2012-12-06