Incidental Mutation 'R3123:Ak9'
ID 477971
Institutional Source Beutler Lab
Gene Symbol Ak9
Ensembl Gene ENSMUSG00000091415
Gene Name adenylate kinase 9
Synonyms Gm7127, Akd2, Akd1, LOC215946
MMRRC Submission 040596-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R3123 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 41179433-41309565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41234576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 646 (I646V)
Ref Sequence ENSEMBL: ENSMUSP00000134177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173494]
AlphaFold G3UYQ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000173494
AA Change: I646V

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: I646V

DomainStartEndE-ValueType
AAA 30 330 4.65e-3 SMART
AAA 391 733 9.11e-1 SMART
Pfam:DUF3508 812 971 1.4e-7 PFAM
AAA 974 1297 1.2e-1 SMART
Blast:AAA 1326 1388 8e-18 BLAST
AAA 1393 1824 1.44e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216532
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Caskin2 T C 11: 115,695,623 (GRCm39) D246G probably damaging Het
Csn1s2b T C 5: 87,966,917 (GRCm39) probably benign Het
Ctsa T A 2: 164,677,152 (GRCm39) probably null Het
Cyp2j8 G A 4: 96,389,450 (GRCm39) probably benign Het
Dach2 T C X: 112,729,664 (GRCm39) I417T possibly damaging Het
Dcaf8l A T X: 88,448,327 (GRCm39) Y601N probably benign Het
Dhx9 T C 1: 153,341,452 (GRCm39) K599E possibly damaging Het
Duox2 A G 2: 122,111,554 (GRCm39) probably benign Het
F2rl3 T C 8: 73,489,840 (GRCm39) S356P probably damaging Het
Fem1b T C 9: 62,703,836 (GRCm39) I475V probably benign Het
Glra3 A G 8: 56,578,244 (GRCm39) R434G possibly damaging Het
Gpr75 T A 11: 30,841,709 (GRCm39) S205T possibly damaging Het
Hsd17b12 C T 2: 93,864,303 (GRCm39) R268Q probably benign Het
Htt T C 5: 34,961,875 (GRCm39) S287P probably benign Het
Ifi27l2b T C 12: 103,417,594 (GRCm39) T198A unknown Het
Kdm5d T C Y: 900,558 (GRCm39) V201A possibly damaging Het
Khdrbs2 C A 1: 32,558,858 (GRCm39) R408L probably damaging Het
Lonp1 A G 17: 56,933,488 (GRCm39) I129T possibly damaging Het
Macc1 T C 12: 119,411,368 (GRCm39) F712S probably damaging Het
Mcpt8 A T 14: 56,321,398 (GRCm39) I22K probably damaging Het
Nop2 G A 6: 125,109,164 (GRCm39) probably benign Het
Or10ag53 A T 2: 87,083,135 (GRCm39) T285S possibly damaging Het
Or2l13 A G 16: 19,305,765 (GRCm39) Y59C probably damaging Het
Or2y3 G A 17: 38,392,903 (GRCm39) probably null Het
Pkd1l1 T A 11: 8,923,021 (GRCm39) D82V unknown Het
Polr2a A T 11: 69,626,536 (GRCm39) S1566T possibly damaging Het
Ppwd1 C T 13: 104,350,198 (GRCm39) E396K possibly damaging Het
Prr30 A G 14: 101,436,425 (GRCm39) S46P probably benign Het
Pthlh A T 6: 147,164,789 (GRCm39) V27E probably damaging Het
Ptpn4 A G 1: 119,693,153 (GRCm39) probably null Het
Rad18 A T 6: 112,658,307 (GRCm39) D199E probably benign Het
Ralgps1 T C 2: 33,048,968 (GRCm39) T314A possibly damaging Het
Rbm27 A G 18: 42,460,230 (GRCm39) E764G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Taf15 G A 11: 83,395,154 (GRCm39) probably null Het
Tas2r140 T A 6: 133,032,204 (GRCm39) I185L probably benign Het
Tgfbr2 G A 9: 115,939,137 (GRCm39) T230M possibly damaging Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Togaram1 G T 12: 65,013,118 (GRCm39) R123L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim9 C T 12: 70,295,167 (GRCm39) G648R probably damaging Het
Upf1 A G 8: 70,790,133 (GRCm39) probably benign Het
Vmn2r109 C T 17: 20,761,248 (GRCm39) C703Y probably damaging Het
Zfp574 G T 7: 24,781,026 (GRCm39) A683S possibly damaging Het
Zfp777 A G 6: 48,006,050 (GRCm39) probably benign Het
Other mutations in Ak9
AlleleSourceChrCoordTypePredicted EffectPPH Score
Mean UTSW 10 41,233,559 (GRCm39) missense possibly damaging 0.59
BB006:Ak9 UTSW 10 41,259,944 (GRCm39) missense
BB016:Ak9 UTSW 10 41,259,944 (GRCm39) missense
R0057:Ak9 UTSW 10 41,268,724 (GRCm39) missense probably benign 0.04
R0605:Ak9 UTSW 10 41,221,135 (GRCm39) missense probably damaging 1.00
R0658:Ak9 UTSW 10 41,223,218 (GRCm39) missense probably damaging 0.98
R1696:Ak9 UTSW 10 41,203,585 (GRCm39) missense possibly damaging 0.73
R1738:Ak9 UTSW 10 41,211,917 (GRCm39) missense possibly damaging 0.86
R1815:Ak9 UTSW 10 41,213,572 (GRCm39) missense probably damaging 1.00
R2900:Ak9 UTSW 10 41,300,751 (GRCm39) missense unknown
R3715:Ak9 UTSW 10 41,233,508 (GRCm39) missense probably damaging 0.96
R4092:Ak9 UTSW 10 41,265,140 (GRCm39) missense probably benign 0.29
R4193:Ak9 UTSW 10 41,211,941 (GRCm39) missense probably benign 0.14
R4598:Ak9 UTSW 10 41,259,907 (GRCm39) missense probably damaging 1.00
R4621:Ak9 UTSW 10 41,282,887 (GRCm39) missense possibly damaging 0.55
R4681:Ak9 UTSW 10 41,303,234 (GRCm39) missense unknown
R4707:Ak9 UTSW 10 41,221,456 (GRCm39) missense probably benign 0.36
R4908:Ak9 UTSW 10 41,296,678 (GRCm39) missense unknown
R4952:Ak9 UTSW 10 41,296,585 (GRCm39) missense probably benign 0.07
R5162:Ak9 UTSW 10 41,233,653 (GRCm39) missense probably damaging 1.00
R5446:Ak9 UTSW 10 41,296,505 (GRCm39) missense possibly damaging 0.70
R5494:Ak9 UTSW 10 41,223,165 (GRCm39) missense probably damaging 1.00
R5517:Ak9 UTSW 10 41,216,887 (GRCm39) missense probably benign 0.23
R5849:Ak9 UTSW 10 41,224,045 (GRCm39) missense probably benign 0.31
R5858:Ak9 UTSW 10 41,299,023 (GRCm39) missense unknown
R5920:Ak9 UTSW 10 41,296,672 (GRCm39) missense probably benign 0.30
R5952:Ak9 UTSW 10 41,233,559 (GRCm39) missense possibly damaging 0.59
R5955:Ak9 UTSW 10 41,234,560 (GRCm39) missense probably damaging 1.00
R6050:Ak9 UTSW 10 41,265,108 (GRCm39) missense possibly damaging 0.74
R6087:Ak9 UTSW 10 41,258,828 (GRCm39) missense probably benign 0.01
R6190:Ak9 UTSW 10 41,298,404 (GRCm39) missense unknown
R6190:Ak9 UTSW 10 41,298,403 (GRCm39) missense unknown
R6197:Ak9 UTSW 10 41,193,826 (GRCm39) missense probably damaging 0.98
R6220:Ak9 UTSW 10 41,246,095 (GRCm39) missense unknown
R6250:Ak9 UTSW 10 41,265,030 (GRCm39) missense possibly damaging 0.54
R6315:Ak9 UTSW 10 41,282,837 (GRCm39) missense possibly damaging 0.55
R6331:Ak9 UTSW 10 41,258,825 (GRCm39) missense probably damaging 0.99
R6812:Ak9 UTSW 10 41,243,163 (GRCm39) missense unknown
R6847:Ak9 UTSW 10 41,233,797 (GRCm39) splice site probably null
R7128:Ak9 UTSW 10 41,300,713 (GRCm39) missense unknown
R7253:Ak9 UTSW 10 41,308,480 (GRCm39) missense unknown
R7286:Ak9 UTSW 10 41,283,367 (GRCm39) missense
R7401:Ak9 UTSW 10 41,299,000 (GRCm39) missense unknown
R7478:Ak9 UTSW 10 41,265,087 (GRCm39) missense
R7698:Ak9 UTSW 10 41,224,072 (GRCm39) missense
R7758:Ak9 UTSW 10 41,223,128 (GRCm39) missense
R7806:Ak9 UTSW 10 41,309,080 (GRCm39) critical splice acceptor site probably null
R7894:Ak9 UTSW 10 41,296,535 (GRCm39) missense unknown
R7929:Ak9 UTSW 10 41,259,944 (GRCm39) missense
R7941:Ak9 UTSW 10 41,285,133 (GRCm39) missense unknown
R8032:Ak9 UTSW 10 41,300,616 (GRCm39) missense unknown
R8143:Ak9 UTSW 10 41,213,588 (GRCm39) nonsense probably null
R8298:Ak9 UTSW 10 41,265,054 (GRCm39) missense
R8301:Ak9 UTSW 10 41,300,712 (GRCm39) missense
R8355:Ak9 UTSW 10 41,275,700 (GRCm39) missense
R8703:Ak9 UTSW 10 41,201,120 (GRCm39) missense
R8728:Ak9 UTSW 10 41,282,959 (GRCm39) missense
R8757:Ak9 UTSW 10 41,299,036 (GRCm39) missense unknown
R8798:Ak9 UTSW 10 41,258,847 (GRCm39) missense
R8868:Ak9 UTSW 10 41,258,869 (GRCm39) nonsense probably null
R8868:Ak9 UTSW 10 41,193,842 (GRCm39) critical splice donor site probably null
R9088:Ak9 UTSW 10 41,282,870 (GRCm39) missense
R9090:Ak9 UTSW 10 41,300,623 (GRCm39) missense unknown
R9165:Ak9 UTSW 10 41,309,235 (GRCm39) missense unknown
R9195:Ak9 UTSW 10 41,283,479 (GRCm39) missense
R9271:Ak9 UTSW 10 41,300,623 (GRCm39) missense unknown
R9297:Ak9 UTSW 10 41,299,081 (GRCm39) missense unknown
R9302:Ak9 UTSW 10 41,196,486 (GRCm39) missense
R9309:Ak9 UTSW 10 41,192,364 (GRCm39) critical splice donor site probably null
R9318:Ak9 UTSW 10 41,299,081 (GRCm39) missense unknown
R9393:Ak9 UTSW 10 41,285,068 (GRCm39) missense unknown
R9541:Ak9 UTSW 10 41,243,173 (GRCm39) missense
R9579:Ak9 UTSW 10 41,213,576 (GRCm39) missense
R9618:Ak9 UTSW 10 41,203,627 (GRCm39) missense
R9697:Ak9 UTSW 10 41,298,968 (GRCm39) nonsense probably null
R9753:Ak9 UTSW 10 41,259,496 (GRCm39) missense
Z1176:Ak9 UTSW 10 41,299,019 (GRCm39) missense unknown
Z1176:Ak9 UTSW 10 41,224,247 (GRCm39) missense
Predicted Primers
Posted On 2017-05-15