Incidental Mutation 'IGL02350:Ak8'
ID 289740
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 # IGL02350
Quality Score
Status
Chromosome 2
Chromosomal Location 28590176-28703177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28590225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 8 (H8L)
Ref Sequence ENSEMBL: ENSMUSP00000073789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074156] [ENSMUST00000102877] [ENSMUST00000124840]
AlphaFold Q32M07
Predicted Effect probably benign
Transcript: ENSMUST00000074156
AA Change: H8L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807
AA Change: H8L

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 probably benign
Transcript: ENSMUST00000102877
SMART Domains Protein: ENSMUSP00000099941
Gene: ENSMUSG00000026809

DomainStartEndE-ValueType
Pfam:DUF4561 1 166 1.5e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123794
Predicted Effect probably benign
Transcript: ENSMUST00000124840
SMART Domains Protein: ENSMUSP00000121846
Gene: ENSMUSG00000026809

DomainStartEndE-ValueType
Pfam:DUF4561 1 167 4.1e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145014
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Ak8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Ak8 APN 2 28,632,729 (GRCm39) missense probably damaging 0.96
IGL01630:Ak8 APN 2 28,602,291 (GRCm39) missense probably benign 0.01
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 2015-04-16