Incidental Mutation 'IGL01100:Ak7'
ID 52451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ak7
Ensembl Gene ENSMUSG00000041323
Gene Name adenylate kinase 7
Synonyms 4930502N02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01100
Quality Score
Status
Chromosome 12
Chromosomal Location 105672235-105748706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105679833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 122 (N122K)
Ref Sequence ENSEMBL: ENSMUSP00000043145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040876]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040876
AA Change: N122K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: N122K

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
Pfam:ADK 431 675 1.4e-9 PFAM
Pfam:Dpy-30 679 720 3.2e-23 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice exhibit hydrocephalus, rhinitis, sperm defects and most die before 8 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,224,673 (GRCm39) probably null Het
Abca8a C T 11: 109,949,249 (GRCm39) probably null Het
Acad11 A G 9: 103,953,607 (GRCm39) T32A probably damaging Het
Arrb1 A T 7: 99,236,420 (GRCm39) probably null Het
Csde1 C A 3: 102,947,841 (GRCm39) R132S possibly damaging Het
Emilin1 A G 5: 31,075,748 (GRCm39) H663R probably benign Het
Etaa1 A G 11: 17,902,576 (GRCm39) probably null Het
Fat3 A T 9: 16,286,524 (GRCm39) F1000I probably damaging Het
Foxj2 T C 6: 122,805,350 (GRCm39) L74P probably damaging Het
Gas6 C T 8: 13,525,118 (GRCm39) V289M probably benign Het
Gm10801 A T 2: 98,494,328 (GRCm39) Y135F probably benign Het
Ihh C T 1: 74,985,601 (GRCm39) A295T probably damaging Het
Ip6k2 G T 9: 108,682,943 (GRCm39) S305I probably damaging Het
Kcnk2 A G 1: 189,072,133 (GRCm39) V65A probably damaging Het
Kif26b G A 1: 178,744,809 (GRCm39) C1635Y probably benign Het
Klhdc4 G A 8: 122,548,582 (GRCm39) Q44* probably null Het
Madd C A 2: 90,988,385 (GRCm39) R1216L probably damaging Het
Myo15a T A 11: 60,401,984 (GRCm39) C3076S probably damaging Het
Or1l4 A T 2: 37,091,652 (GRCm39) H133L possibly damaging Het
Or52e18 T A 7: 104,609,202 (GRCm39) I246F probably benign Het
Polq C A 16: 36,881,474 (GRCm39) P934T probably benign Het
Prkaa1 A T 15: 5,203,799 (GRCm39) K227M probably damaging Het
Psap G A 10: 60,135,708 (GRCm39) G388S probably benign Het
Repin1 A G 6: 48,573,839 (GRCm39) E200G probably damaging Het
Samd9l C A 6: 3,375,863 (GRCm39) S466I possibly damaging Het
Slc5a3 A G 16: 91,876,110 (GRCm39) probably benign Het
Smg9 G A 7: 24,116,376 (GRCm39) V314M probably damaging Het
Tktl1 G A X: 73,244,232 (GRCm39) R352H probably benign Het
Ube2z A G 11: 95,953,849 (GRCm39) V123A probably damaging Het
Vmn1r176 A T 7: 23,535,049 (GRCm39) F35I probably benign Het
Zdhhc18 A T 4: 133,340,269 (GRCm39) Y293N probably damaging Het
Other mutations in Ak7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Ak7 APN 12 105,711,556 (GRCm39) missense probably null
IGL01939:Ak7 APN 12 105,701,183 (GRCm39) missense probably benign 0.06
IGL03233:Ak7 APN 12 105,727,739 (GRCm39) missense probably damaging 1.00
drizzle UTSW 12 105,708,591 (GRCm39) missense probably damaging 1.00
R0453:Ak7 UTSW 12 105,682,307 (GRCm39) missense probably damaging 0.98
R0538:Ak7 UTSW 12 105,732,876 (GRCm39) missense probably damaging 1.00
R0619:Ak7 UTSW 12 105,699,770 (GRCm39) missense probably damaging 1.00
R0724:Ak7 UTSW 12 105,676,513 (GRCm39) missense probably benign 0.00
R1028:Ak7 UTSW 12 105,676,448 (GRCm39) small deletion probably benign
R1112:Ak7 UTSW 12 105,679,831 (GRCm39) missense probably benign
R1449:Ak7 UTSW 12 105,708,520 (GRCm39) missense possibly damaging 0.72
R1523:Ak7 UTSW 12 105,732,867 (GRCm39) missense probably benign 0.18
R1626:Ak7 UTSW 12 105,734,807 (GRCm39) missense probably benign 0.23
R1737:Ak7 UTSW 12 105,708,591 (GRCm39) missense probably damaging 1.00
R1795:Ak7 UTSW 12 105,692,482 (GRCm39) nonsense probably null
R1971:Ak7 UTSW 12 105,692,504 (GRCm39) missense probably damaging 0.98
R2020:Ak7 UTSW 12 105,711,591 (GRCm39) splice site probably null
R2267:Ak7 UTSW 12 105,713,473 (GRCm39) missense probably benign
R3918:Ak7 UTSW 12 105,676,515 (GRCm39) missense probably benign 0.03
R4600:Ak7 UTSW 12 105,679,834 (GRCm39) missense probably benign 0.00
R4601:Ak7 UTSW 12 105,679,834 (GRCm39) missense probably benign 0.00
R4602:Ak7 UTSW 12 105,679,834 (GRCm39) missense probably benign 0.00
R4610:Ak7 UTSW 12 105,679,834 (GRCm39) missense probably benign 0.00
R4611:Ak7 UTSW 12 105,679,834 (GRCm39) missense probably benign 0.00
R4612:Ak7 UTSW 12 105,727,772 (GRCm39) missense probably damaging 1.00
R4791:Ak7 UTSW 12 105,676,404 (GRCm39) missense probably benign 0.05
R5523:Ak7 UTSW 12 105,707,341 (GRCm39) nonsense probably null
R5911:Ak7 UTSW 12 105,692,471 (GRCm39) missense probably damaging 1.00
R6066:Ak7 UTSW 12 105,699,750 (GRCm39) missense possibly damaging 0.87
R6270:Ak7 UTSW 12 105,734,960 (GRCm39) missense probably benign
R6767:Ak7 UTSW 12 105,732,866 (GRCm39) missense probably damaging 0.98
R6960:Ak7 UTSW 12 105,676,503 (GRCm39) missense probably benign
R7016:Ak7 UTSW 12 105,747,938 (GRCm39) nonsense probably null
R7185:Ak7 UTSW 12 105,708,535 (GRCm39) missense probably damaging 1.00
R7187:Ak7 UTSW 12 105,711,532 (GRCm39) missense probably benign 0.00
R7204:Ak7 UTSW 12 105,708,502 (GRCm39) missense probably benign
R7724:Ak7 UTSW 12 105,682,289 (GRCm39) missense probably damaging 1.00
R7779:Ak7 UTSW 12 105,708,609 (GRCm39) missense probably benign 0.42
R7878:Ak7 UTSW 12 105,733,008 (GRCm39) missense probably damaging 1.00
R8375:Ak7 UTSW 12 105,708,600 (GRCm39) missense probably damaging 0.99
R8752:Ak7 UTSW 12 105,713,476 (GRCm39) small deletion probably benign
R8832:Ak7 UTSW 12 105,708,598 (GRCm39) missense possibly damaging 0.75
R8980:Ak7 UTSW 12 105,747,158 (GRCm39) missense probably benign 0.00
R9552:Ak7 UTSW 12 105,676,448 (GRCm39) small deletion probably benign
Posted On 2013-06-21