Incidental Mutation 'R8298:Ak9'
ID 639089
Institutional Source Beutler Lab
Gene Symbol Ak9
Ensembl Gene ENSMUSG00000091415
Gene Name adenylate kinase 9
Synonyms Gm7127, Akd2, Akd1, LOC215946
MMRRC Submission 067786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8298 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 41179433-41309565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41265054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 404 (E404G)
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: E404G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (62/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,695 (GRCm39) L343P probably benign Het
Aak1 T A 6: 86,902,061 (GRCm39) F77I possibly damaging Het
Abca3 T C 17: 24,604,375 (GRCm39) L582P probably damaging Het
Acat1 A T 9: 53,505,724 (GRCm39) S136R probably damaging Het
Adamts2 T C 11: 50,667,958 (GRCm39) F507L possibly damaging Het
Adcy3 G A 12: 4,256,482 (GRCm39) A763T probably damaging Het
Adgrv1 A T 13: 81,534,033 (GRCm39) C5849* probably null Het
Adrb2 A T 18: 62,311,753 (GRCm39) N357K probably benign Het
Akap13 T C 7: 75,397,552 (GRCm39) L2576P probably damaging Het
Armcx5 AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA X: 134,646,453 (GRCm39) probably benign Het
Arv1 A G 8: 125,455,111 (GRCm39) Y108C probably damaging Het
Casp8ap2 T A 4: 32,640,429 (GRCm39) H494Q probably benign Het
Ccdc88b A G 19: 6,827,649 (GRCm39) L951P probably damaging Het
D830039M14Rik A T 10: 61,311,362 (GRCm39) M160K noncoding transcript Het
Dbf4 A G 5: 8,462,115 (GRCm39) probably benign Het
Dennd4a A G 9: 64,814,157 (GRCm39) D1458G probably benign Het
Dock10 T C 1: 80,514,654 (GRCm39) K1422R probably benign Het
Dyrk3 C T 1: 131,057,112 (GRCm39) D354N probably damaging Het
Epha3 T A 16: 63,386,961 (GRCm39) I892F probably benign Het
Evi5 G A 5: 107,964,731 (GRCm39) S317L possibly damaging Het
Evl C T 12: 108,619,232 (GRCm39) P76S probably benign Het
Fyb2 A C 4: 104,806,028 (GRCm39) E369D probably damaging Het
Gm10000 T C 12: 104,442,436 (GRCm39) probably benign Het
Gm1979 T C 5: 26,206,148 (GRCm39) N190S probably damaging Het
Gm3633 T C 14: 42,462,675 (GRCm39) E72G Het
Gm5414 T C 15: 101,532,605 (GRCm39) Y506C unknown Het
Gm572 T A 4: 148,742,550 (GRCm39) H96Q possibly damaging Het
Gml T C 15: 74,685,541 (GRCm39) E148G probably damaging Het
Got1l1 T C 8: 27,688,586 (GRCm39) D255G probably benign Het
Hydin A G 8: 111,327,015 (GRCm39) N4785D probably damaging Het
Kcnk12 A T 17: 88,104,713 (GRCm39) F57Y probably damaging Het
Klhdc9 C A 1: 171,186,429 (GRCm39) G336C probably damaging Het
Kprp T C 3: 92,732,607 (GRCm39) T148A probably damaging Het
Lama3 G A 18: 12,658,910 (GRCm39) R2022Q probably benign Het
Lelp1 A T 3: 92,042,927 (GRCm39) S41T unknown Het
Lnx2 A T 5: 146,961,327 (GRCm39) M535K probably benign Het
Mmp9 T A 2: 164,792,279 (GRCm39) F294L probably null Het
Myo7a T C 7: 97,747,541 (GRCm39) Y97C probably damaging Het
Nav2 T C 7: 49,204,009 (GRCm39) probably null Het
Ndufaf3 T C 9: 108,444,120 (GRCm39) T3A probably benign Het
Nrxn1 A G 17: 91,011,597 (GRCm39) I344T probably damaging Het
Or1j1 T C 2: 36,703,038 (GRCm39) E22G probably benign Het
Or5ap2 T C 2: 85,680,533 (GRCm39) S246P probably damaging Het
Or5w14 A T 2: 87,541,376 (GRCm39) S291R probably damaging Het
Pccb T C 9: 100,867,885 (GRCm39) D384G probably damaging Het
Plekhg3 C T 12: 76,623,852 (GRCm39) H1032Y probably damaging Het
Ppfia3 A G 7: 45,009,618 (GRCm39) S125P probably damaging Het
Prl7a2 T C 13: 27,844,994 (GRCm39) M131V probably benign Het
Prmt3 A G 7: 49,507,186 (GRCm39) T517A probably benign Het
Prpf4b A G 13: 35,072,166 (GRCm39) H491R unknown Het
Rhot1 T A 11: 80,137,502 (GRCm39) C335S probably benign Het
Robo1 C T 16: 72,769,020 (GRCm39) probably benign Het
Samd3 A T 10: 26,121,468 (GRCm39) D195V probably damaging Het
Sh3gl2 T A 4: 85,297,647 (GRCm39) D208E possibly damaging Het
Spta1 A T 1: 174,074,953 (GRCm39) D2393V probably damaging Het
Tgs1 T C 4: 3,605,840 (GRCm39) L785P probably damaging Het
Tmem25 C T 9: 44,710,116 (GRCm39) probably benign Het
Trappc10 A G 10: 78,038,753 (GRCm39) Y780H probably damaging Het
Ttn C A 2: 76,557,511 (GRCm39) W29861L probably damaging Het
Usp1 T A 4: 98,819,136 (GRCm39) D199E probably damaging Het
Vmn2r40 A G 7: 8,911,148 (GRCm39) I715T Het
Zfp169 G A 13: 48,651,853 (GRCm39) Q68* probably null Het
Zfp418 T A 7: 7,185,814 (GRCm39) Y592* probably null Het
Zfp712 A G 13: 67,188,976 (GRCm39) V517A probably benign Het
Zfp934 A T 13: 62,666,295 (GRCm39) H146Q Het
Zgrf1 T C 3: 127,408,878 (GRCm39) S1662P probably damaging 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
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 PCR Primer
(F):5'- TACCCAACAGAGTCTGAAGGGG -3'
(R):5'- GAGATCAGAAACTTCCCTGTAACC -3'

Sequencing Primer
(F):5'- CAGGTCAGATAGAGTGTGTACCCAC -3'
(R):5'- AGAAACTTCCCTGTAACCCTTACTG -3'
Posted On 2020-07-28