Incidental Mutation 'R6960:Ak7'
ID 541715
Institutional Source Beutler Lab
Gene Symbol Ak7
Ensembl Gene ENSMUSG00000041323
Gene Name adenylate kinase 7
Synonyms 4930502N02Rik
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 105672235-105748706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105676503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 68 (T68S)
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: T68S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: T68S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably 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
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
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'- GACACACAGGGCTTTTCTCAG -3'
(R):5'- CTAGTAACAGACTGCTAAGGGGC -3'

Sequencing Primer
(F):5'- TCTTCGGGGTCGACAGTAAAG -3'
(R):5'- ACTGCTAAGGGGCTGGCAC -3'
Posted On 2018-11-28