Incidental Mutation 'R8355:Ak9'
ID 660287
Institutional Source Beutler Lab
Gene Symbol Ak9
Ensembl Gene ENSMUSG00000091415
Gene Name adenylate kinase 9
Synonyms Gm7127, Akd2, Akd1, LOC215946
MMRRC Submission 067869-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8355 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 41179433-41309565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41275700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1112 (R1112Q)
Ref Sequence ENSEMBL: ENSMUSP00000134177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173494]
AlphaFold G3UYQ4
Predicted Effect
SMART Domains Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: R1112Q

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
Meta Mutation Damage Score 0.0763 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (48/49)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,638,478 (GRCm39) H145Q probably benign Het
Acsf2 A T 11: 94,461,450 (GRCm39) M293K probably benign Het
Ano8 T C 8: 71,933,210 (GRCm39) probably benign Het
Ap3b2 A T 7: 81,122,851 (GRCm39) V462E probably damaging Het
Arid1a T C 4: 133,448,174 (GRCm39) Q498R unknown Het
AW011738 C A 4: 156,287,837 (GRCm39) probably benign Het
Bhlhe41 T A 6: 145,811,028 (GRCm39) probably null Het
Bnc1 A C 7: 81,618,624 (GRCm39) S814A probably damaging Het
Bnip5 T A 17: 29,122,249 (GRCm39) Q414L probably damaging Het
Cage1 A T 13: 38,203,225 (GRCm39) L613H probably damaging Het
Camk1g T C 1: 193,033,355 (GRCm39) I231V probably damaging Het
Catspere2 T C 1: 177,845,276 (GRCm39) Y99H possibly damaging Het
Ccdc50 A G 16: 27,236,101 (GRCm39) Y145C probably benign Het
Cdcp1 A G 9: 123,002,888 (GRCm39) S728P probably benign Het
Chrm3 A T 13: 9,928,646 (GRCm39) M130K probably damaging Het
Csf1r T C 18: 61,261,222 (GRCm39) F766S probably damaging Het
Dact3 A G 7: 16,617,125 (GRCm39) D108G probably damaging Het
Dnaaf5 ACCCAGCACCTGGAGATCGTCC ACC 5: 139,147,614 (GRCm39) probably null Het
Dnah8 A C 17: 30,914,152 (GRCm39) L1099F possibly damaging Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gk5 T C 9: 96,032,839 (GRCm39) V274A possibly damaging Het
Gnpat T C 8: 125,597,579 (GRCm39) F47S probably benign Het
Gsap G T 5: 21,456,017 (GRCm39) G374* probably null Het
Gtf2h2 A T 13: 100,605,503 (GRCm39) F368Y possibly damaging Het
Gvin1 A T 7: 105,757,312 (GRCm39) W2386R possibly damaging Het
Ighe A T 12: 113,235,167 (GRCm39) L331* probably null Het
Iqank1 C A 15: 75,906,073 (GRCm39) Q87K probably benign Het
Itch T A 2: 155,052,502 (GRCm39) probably null Het
Lars2 G A 9: 123,283,780 (GRCm39) A683T probably damaging Het
Lin7a C T 10: 107,218,497 (GRCm39) R14C probably damaging Het
Lrp2 C T 2: 69,346,828 (GRCm39) S806N probably damaging Het
Lrrc8e T A 8: 4,284,018 (GRCm39) M81K probably benign Het
Mcm3ap C A 10: 76,329,335 (GRCm39) T1172K probably benign Het
Mrm3 A T 11: 76,141,164 (GRCm39) M391L possibly damaging Het
Myo9a T C 9: 59,817,130 (GRCm39) S2278P probably damaging Het
Ncln T C 10: 81,323,703 (GRCm39) K511E probably damaging Het
Or2y17 G T 11: 49,231,592 (GRCm39) V78L possibly damaging Het
Or8b101 A G 9: 38,020,258 (GRCm39) K87R probably benign Het
Pcdhb10 G T 18: 37,545,134 (GRCm39) G70V probably damaging Het
Phf24 A G 4: 42,933,735 (GRCm39) E39G probably benign Het
Plat C A 8: 23,261,758 (GRCm39) S52* probably null Het
Pramel52-ps T C 5: 94,531,772 (GRCm39) C219R probably damaging Het
Ptpru C A 4: 131,535,811 (GRCm39) G389C probably damaging Het
Rnpep T C 1: 135,195,005 (GRCm39) D407G probably damaging Het
Rttn G A 18: 89,047,016 (GRCm39) V893I probably benign Het
Slit1 A G 19: 41,634,473 (GRCm39) L428P probably damaging Het
Tet1 T A 10: 62,652,229 (GRCm39) L1596F possibly damaging Het
Thsd7b T C 1: 129,523,616 (GRCm39) C140R probably damaging Het
Usp17le A T 7: 104,418,752 (GRCm39) M130K possibly damaging Het
Vmn2r92 T G 17: 18,405,061 (GRCm39) I735S probably damaging Het
Zbtb42 A T 12: 112,645,969 (GRCm39) Y48F probably damaging Het
Zbtb43 C T 2: 33,345,120 (GRCm39) G35D possibly damaging Het
Zfp1005 T A 2: 150,109,876 (GRCm39) C189S unknown 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
R3123:Ak9 UTSW 10 41,234,576 (GRCm39) missense possibly damaging 0.46
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
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 PCR Primer
(F):5'- CACAAAATGGTTCCTCTTCTGC -3'
(R):5'- AGACATCTTCCCGTGTACCTTG -3'

Sequencing Primer
(F):5'- AAAATGGTTCCTCTTCTGCTTTCATG -3'
(R):5'- CGTGTACCTTGATTTTTGTCTTCAG -3'
Posted On 2021-01-18