Incidental Mutation 'IGL03233:Ak7'
ID413985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ak7
Ensembl Gene ENSMUSG00000041323
Gene Nameadenylate kinase 7
Synonyms4930502N02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03233
Quality Score
Status
Chromosome12
Chromosomal Location105705976-105782447 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105761480 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 457 (D457G)
Ref Sequence ENSEMBL: ENSMUSP00000043145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040876]
Predicted Effect probably damaging
Transcript: ENSMUST00000040876
AA Change: D457G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: D457G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,342,120 F856S probably damaging Het
Ankrd26 G T 6: 118,535,146 probably null Het
Ano5 C A 7: 51,570,368 P405T probably damaging Het
Asah2 T A 19: 32,054,631 N46I probably benign Het
Atg4c A T 4: 99,229,503 Y343F probably benign Het
Cab39 T A 1: 85,842,323 M175K probably benign Het
Cadps2 T C 6: 23,263,601 E1257G probably benign Het
Casc1 A T 6: 145,181,885 Y433N probably damaging Het
Ces1d A G 8: 93,195,079 Y19H probably benign Het
Cst6 T C 19: 5,349,261 D25G probably damaging Het
Cyp4a30b A T 4: 115,458,970 T298S probably benign Het
Dgkk T C X: 6,903,838 L352P probably damaging Het
Dync2h1 A C 9: 7,101,525 F482V possibly damaging Het
Esco1 A G 18: 10,574,877 W208R probably damaging Het
Fbn2 T C 18: 58,102,377 D676G probably benign Het
Foxp3 T C X: 7,587,423 probably benign Het
Gpr108 T A 17: 57,245,042 I123F probably benign Het
Gsdmc4 A T 15: 63,902,860 V24E probably damaging Het
Jam3 C A 9: 27,101,921 V118F probably damaging Het
Kif23 T A 9: 61,926,453 I489F probably benign Het
Lama3 T A 18: 12,481,038 V1288D probably damaging Het
Mark2 G T 19: 7,284,726 H308N possibly damaging Het
Mms19 T C 19: 41,946,913 probably null Het
Neb A T 2: 52,308,301 I477N possibly damaging Het
Npm1 G T 11: 33,156,717 Q204K probably benign Het
Nsun5 G A 5: 135,375,445 V369M probably damaging Het
Olfr1355 C A 10: 78,879,572 Y133* probably null Het
Pcdhb13 T A 18: 37,444,265 N565K probably damaging Het
Pla2r1 A G 2: 60,428,580 F1155L possibly damaging Het
Pus10 T A 11: 23,712,241 W304R probably damaging Het
Rab32 G A 10: 10,546,313 Q221* probably null Het
Rlf A G 4: 121,182,600 probably benign Het
Robo1 A T 16: 72,970,193 I418F probably damaging Het
Slc44a2 T C 9: 21,348,622 I642T possibly damaging Het
Ston2 T A 12: 91,647,853 T594S probably damaging Het
Szt2 T C 4: 118,372,529 T2802A unknown Het
Tshz3 T A 7: 36,770,079 Y498N probably damaging Het
Zfp280b T A 10: 76,039,769 I494N probably damaging Het
Zfp281 A G 1: 136,626,829 Q515R possibly damaging Het
Other mutations in Ak7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Ak7 APN 12 105713574 missense probably benign 0.06
IGL01859:Ak7 APN 12 105745297 missense probably null
IGL01939:Ak7 APN 12 105734924 missense probably benign 0.06
drizzle UTSW 12 105742332 missense probably damaging 1.00
R0453:Ak7 UTSW 12 105716048 missense probably damaging 0.98
R0538:Ak7 UTSW 12 105766617 missense probably damaging 1.00
R0619:Ak7 UTSW 12 105733511 missense probably damaging 1.00
R0724:Ak7 UTSW 12 105710254 missense probably benign 0.00
R1028:Ak7 UTSW 12 105710189 small deletion probably benign
R1112:Ak7 UTSW 12 105713572 missense probably benign
R1449:Ak7 UTSW 12 105742261 missense possibly damaging 0.72
R1523:Ak7 UTSW 12 105766608 missense probably benign 0.18
R1626:Ak7 UTSW 12 105768548 missense probably benign 0.23
R1737:Ak7 UTSW 12 105742332 missense probably damaging 1.00
R1795:Ak7 UTSW 12 105726223 nonsense probably null
R1971:Ak7 UTSW 12 105726245 missense probably damaging 0.98
R2020:Ak7 UTSW 12 105745332 splice site probably null
R2267:Ak7 UTSW 12 105747214 missense probably benign
R3918:Ak7 UTSW 12 105710256 missense probably benign 0.03
R4600:Ak7 UTSW 12 105713575 missense probably benign 0.00
R4601:Ak7 UTSW 12 105713575 missense probably benign 0.00
R4602:Ak7 UTSW 12 105713575 missense probably benign 0.00
R4610:Ak7 UTSW 12 105713575 missense probably benign 0.00
R4611:Ak7 UTSW 12 105713575 missense probably benign 0.00
R4612:Ak7 UTSW 12 105761513 missense probably damaging 1.00
R4791:Ak7 UTSW 12 105710145 missense probably benign 0.05
R5523:Ak7 UTSW 12 105741082 nonsense probably null
R5911:Ak7 UTSW 12 105726212 missense probably damaging 1.00
R6066:Ak7 UTSW 12 105733491 missense possibly damaging 0.87
R6270:Ak7 UTSW 12 105768701 missense probably benign
R6767:Ak7 UTSW 12 105766607 missense probably damaging 0.98
R6960:Ak7 UTSW 12 105710244 missense probably benign
R7016:Ak7 UTSW 12 105781679 nonsense probably null
R7185:Ak7 UTSW 12 105742276 missense probably damaging 1.00
R7187:Ak7 UTSW 12 105745273 missense probably benign 0.00
R7204:Ak7 UTSW 12 105742243 missense probably benign
Posted On2016-08-02