Incidental Mutation 'R7185:Ak7'
ID 559257
Institutional Source Beutler Lab
Gene Symbol Ak7
Ensembl Gene ENSMUSG00000041323
Gene Name adenylate kinase 7
Synonyms 4930502N02Rik
MMRRC Submission 045237-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7185 (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 G at 105708535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 330 (E330G)
Ref Sequence ENSEMBL: ENSMUSP00000043145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040876]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040876
AA Change: E330G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: E330G

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
Meta Mutation Damage Score 0.2183 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T A 11: 117,725,599 (GRCm39) D95E possibly damaging Het
B3gat2 A C 1: 23,802,272 (GRCm39) D186A probably damaging Het
Baz1a G A 12: 55,022,093 (GRCm39) T63M probably damaging Het
Bhmt2 A T 13: 93,799,779 (GRCm39) M219K probably benign Het
Cd200r1 A G 16: 44,609,975 (GRCm39) T65A probably benign Het
Cdc14a T C 3: 116,087,676 (GRCm39) E494G probably benign Het
Cenpf A G 1: 189,385,686 (GRCm39) L2198P probably damaging Het
Col4a2 T A 8: 11,449,739 (GRCm39) D117E probably damaging Het
Ddr2 C A 1: 169,814,623 (GRCm39) V607L probably damaging Het
Dennd4c A G 4: 86,729,687 (GRCm39) Y763C probably damaging Het
Ecscr T A 18: 35,849,857 (GRCm39) T93S probably benign Het
Eogt C T 6: 97,097,139 (GRCm39) R321H probably damaging Het
Fam174c G A 10: 80,008,963 (GRCm39) G55E probably damaging Het
Fras1 T C 5: 96,784,635 (GRCm39) S873P probably damaging Het
Gm29735 ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA 7: 141,710,266 (GRCm39) probably benign Het
Gm8247 A G 14: 44,823,859 (GRCm39) I182V Het
Gpatch2 T C 1: 186,958,394 (GRCm39) S250P probably damaging Het
Gramd1b T C 9: 40,244,859 (GRCm39) D183G probably benign Het
Hspa5 T C 2: 34,665,138 (GRCm39) V433A probably damaging Het
Igkv8-30 C A 6: 70,094,590 (GRCm39) Q4H probably benign Het
Igkv8-30 T G 6: 70,094,591 (GRCm39) Q4P probably damaging Het
Kcnj5 T G 9: 32,233,472 (GRCm39) N281T probably damaging Het
L1td1 A G 4: 98,624,855 (GRCm39) E350G possibly damaging Het
Layn T C 9: 50,985,173 (GRCm39) T128A possibly damaging Het
Liph T C 16: 21,814,089 (GRCm39) M11V probably benign Het
Lrp1b C T 2: 40,691,524 (GRCm39) probably null Het
Mcrip1 A C 11: 120,435,505 (GRCm39) probably null Het
Myh1 G A 11: 67,098,285 (GRCm39) E486K probably damaging Het
Nav1 T C 1: 135,398,746 (GRCm39) K612R possibly damaging Het
Nek10 A G 14: 14,846,621 (GRCm38) K245E probably benign Het
Nipal1 T A 5: 72,824,198 (GRCm39) S181T probably damaging Het
Nme8 A C 13: 19,862,053 (GRCm39) L192R probably damaging Het
Nol7 G A 13: 43,560,307 (GRCm39) probably null Het
Oas1b G A 5: 120,955,837 (GRCm39) R205H not run Het
Or13j1 A G 4: 43,706,082 (GRCm39) I162T possibly damaging Het
Or4f56 T G 2: 111,704,167 (GRCm39) E11A possibly damaging Het
Or5w15 A G 2: 87,568,489 (GRCm39) Y60H probably damaging Het
Pcdhgb6 T C 18: 37,876,701 (GRCm39) S470P probably benign Het
Pdzk1ip1 A T 4: 114,946,305 (GRCm39) H55L possibly damaging Het
Pibf1 T A 14: 99,344,752 (GRCm39) M124K possibly damaging Het
Prr36 C T 8: 4,266,458 (GRCm39) G31R probably damaging Het
Ptchd4 C A 17: 42,814,079 (GRCm39) A660D probably damaging Het
Qsox2 A G 2: 26,110,718 (GRCm39) V166A possibly damaging Het
Rb1cc1 A T 1: 6,308,607 (GRCm39) Y164F probably damaging Het
Rest C A 5: 77,430,331 (GRCm39) H917N probably benign Het
Rlig1 T C 10: 100,425,073 (GRCm39) probably benign Het
Rnf213 T C 11: 119,315,024 (GRCm39) C955R Het
Scn7a T A 2: 66,518,139 (GRCm39) N1024I possibly damaging Het
Sec11c T A 18: 65,947,963 (GRCm39) D134E probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spo11 T A 2: 172,823,985 (GRCm39) probably null Het
Srd5a3 T C 5: 76,301,419 (GRCm39) I216T probably benign Het
Tcaf3 T C 6: 42,570,864 (GRCm39) N296S probably benign Het
Tepsin T C 11: 119,984,643 (GRCm39) D259G probably damaging Het
Themis G A 10: 28,657,873 (GRCm39) S300N probably benign Het
Trhr2 T A 8: 123,087,396 (GRCm39) T15S probably benign Het
Uts2r T C 11: 121,051,706 (GRCm39) V190A probably benign Het
Vmn2r77 A C 7: 86,451,035 (GRCm39) D307A probably benign Het
Xpa G T 4: 46,183,078 (GRCm39) T237K probably benign Het
Zfp1006 A T 8: 129,946,502 (GRCm39) C108S probably benign Het
Zfp335 A G 2: 164,735,164 (GRCm39) probably null Het
Zfp451 A T 1: 33,808,974 (GRCm39) D962E probably damaging Het
Zfp60 A G 7: 27,437,830 (GRCm39) T46A probably damaging Het
Zfy1 G A Y: 725,464 (GRCm39) S767L 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
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
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'- TCTGTAGACACTTAGTGCCCGG -3'
(R):5'- AAACGTGAACCCTGTGCTC -3'

Sequencing Primer
(F):5'- ACACTTAGTGCCCGGCTGATC -3'
(R):5'- CTGTGCTCAGACGTCCTAACG -3'
Posted On 2019-06-26