Incidental Mutation 'R6066:Ak7'
ID 484051
Institutional Source Beutler Lab
Gene Symbol Ak7
Ensembl Gene ENSMUSG00000041323
Gene Name adenylate kinase 7
Synonyms 4930502N02Rik
MMRRC Submission 044230-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6066 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 105672235-105748706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 105699750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 223 (G223V)
Ref Sequence ENSEMBL: ENSMUSP00000043145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040876]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000040876
AA Change: G223V

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: G223V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221981
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adgrb1 T C 15: 74,412,308 (GRCm39) F429S probably damaging Het
Ahi1 A T 10: 20,835,825 (GRCm39) M53L possibly damaging Het
Ahr A T 12: 35,554,920 (GRCm39) F400I probably damaging Het
Alpk3 A G 7: 80,726,698 (GRCm39) I128V possibly damaging Het
Ampd3 A T 7: 110,392,974 (GRCm39) E247D probably benign Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Arhgef10l A G 4: 140,304,391 (GRCm39) F243L probably damaging Het
Cdh23 A T 10: 60,269,537 (GRCm39) V661E probably damaging Het
Cox8c A G 12: 102,866,534 (GRCm39) T53A probably benign Het
Creld2 C A 15: 88,707,969 (GRCm39) T236K possibly damaging Het
Cul3 A T 1: 80,261,476 (GRCm39) C250S probably benign Het
Dhx37 A C 5: 125,501,730 (GRCm39) F510V probably benign Het
Fblim1 T C 4: 141,305,220 (GRCm39) D350G probably damaging Het
Lipm A G 19: 34,090,374 (GRCm39) Y185C probably damaging Het
Mfsd4b4 A G 10: 39,768,049 (GRCm39) F348S probably benign Het
Misp A G 10: 79,662,146 (GRCm39) R188G possibly damaging Het
Nbeal1 T G 1: 60,287,564 (GRCm39) I936S probably benign Het
Ngly1 G A 14: 16,294,634 (GRCm38) M521I probably benign Het
Nlrp9a A T 7: 26,257,510 (GRCm39) Y376F probably benign Het
Oas3 T C 5: 120,910,989 (GRCm39) K197R probably damaging Het
Pars2 T C 4: 106,511,276 (GRCm39) Y353H probably damaging Het
Pik3r1 T C 13: 101,822,828 (GRCm39) N625D possibly damaging Het
Pkhd1l1 T A 15: 44,391,525 (GRCm39) S1530R probably damaging Het
Rsph6a C T 7: 18,799,740 (GRCm39) P457L probably damaging Het
Secisbp2 T C 13: 51,831,258 (GRCm39) S565P probably benign Het
Slc28a3 T C 13: 58,726,301 (GRCm39) M163V probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Szt2 T C 4: 118,229,171 (GRCm39) T2890A unknown Het
Tatdn3 A T 1: 190,778,465 (GRCm39) V242E probably benign Het
Vmn1r22 T G 6: 57,877,864 (GRCm39) M38L probably benign Het
Vmn2r104 A G 17: 20,258,573 (GRCm39) F524L possibly damaging Het
Vmn2r94 A G 17: 18,477,695 (GRCm39) S239P probably damaging Het
Xpo7 T C 14: 70,919,778 (GRCm39) D679G probably null Het
Zbtb42 C A 12: 112,646,041 (GRCm39) T72K probably damaging Het
Zfp493 G A 13: 67,935,069 (GRCm39) A341T possibly damaging Het
Zfp811 A G 17: 33,017,801 (GRCm39) C80R possibly damaging Het
Other mutations in Ak7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Ak7 APN 12 105,679,833 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- GCAGAGTCTGTAACGGTGTC -3'
(R):5'- ACTCGTGTATTGGAGCTGAG -3'

Sequencing Primer
(F):5'- CGGTGTCCGTTTAACTTACTAAG -3'
(R):5'- TGTGCAGGCCCCAGCATAC -3'
Posted On 2017-07-14