Incidental Mutation 'R6190:Ak9'
ID 502487
Institutional Source Beutler Lab
Gene Symbol Ak9
Ensembl Gene ENSMUSG00000091415
Gene Name adenylate kinase 9
Synonyms Gm7127, Akd2, Akd1, LOC215946
MMRRC Submission 044330-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R6190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 41179433-41309565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 41298403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 1489 (Q1489E)
Ref Sequence ENSEMBL: ENSMUSP00000134177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173494]
AlphaFold G3UYQ4
Predicted Effect unknown
Transcript: ENSMUST00000173494
AA Change: Q1489E
SMART Domains Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: Q1489E

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: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,423,472 (GRCm39) L224Q probably damaging Het
Abcc5 A G 16: 20,211,529 (GRCm39) M478T probably benign Het
Acot10 T C 15: 20,665,871 (GRCm39) D290G possibly damaging Het
Actr3b A G 5: 26,036,688 (GRCm39) Q167R probably benign Het
Actr8 C T 14: 29,713,674 (GRCm39) R565* probably null Het
Adcy7 C T 8: 89,052,358 (GRCm39) probably null Het
Adgrb3 C T 1: 25,459,728 (GRCm39) V576I probably benign Het
Adgrv1 T A 13: 81,607,882 (GRCm39) probably null Het
Adgrv1 A T 13: 81,672,898 (GRCm39) probably null Het
Ak2 A G 4: 128,892,976 (GRCm39) D45G probably damaging Het
Akap12 C A 10: 4,306,268 (GRCm39) S1026Y possibly damaging Het
Ankhd1 T G 18: 36,744,862 (GRCm39) S601A possibly damaging Het
Apba2 A T 7: 64,389,628 (GRCm39) E508V probably damaging Het
Arhgap18 A G 10: 26,722,031 (GRCm39) M1V probably null Het
Arhgef10l G A 4: 140,270,073 (GRCm39) T865M possibly damaging Het
Bdh1 T A 16: 31,268,715 (GRCm39) V150D probably damaging Het
Becn1 A G 11: 101,186,200 (GRCm39) C135R probably damaging Het
C2cd4d A G 3: 94,271,226 (GRCm39) D164G probably benign Het
Cacna1e C A 1: 154,362,316 (GRCm39) V424F possibly damaging Het
Capn7 C A 14: 31,085,560 (GRCm39) T511K probably benign Het
Cdc5l G A 17: 45,718,943 (GRCm39) P558S probably benign Het
Cep170 T A 1: 176,609,975 (GRCm39) H112L probably damaging Het
Cfap61 C T 2: 145,789,053 (GRCm39) T19M probably benign Het
Clca3a1 A G 3: 144,463,821 (GRCm39) V152A probably benign Het
Cnot10 G T 9: 114,461,791 (GRCm39) T24K probably damaging Het
Cntnap5b T A 1: 100,306,800 (GRCm39) I839N possibly damaging Het
Cyp4f13 A T 17: 33,148,847 (GRCm39) D299E probably damaging Het
Dclk1 A G 3: 55,395,232 (GRCm39) E128G probably damaging Het
Dennd1b T C 1: 139,061,413 (GRCm39) I365T probably damaging Het
Dgcr8 T C 16: 18,102,274 (GRCm39) T3A probably damaging Het
Dld A C 12: 31,394,847 (GRCm39) I58S probably damaging Het
Dlg5 T A 14: 24,240,506 (GRCm39) R248S probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Faf1 C T 4: 109,719,012 (GRCm39) L373F probably damaging Het
Fam171b C T 2: 83,707,042 (GRCm39) T304I probably benign Het
Fcgrt A T 7: 44,751,622 (GRCm39) probably null Het
Gimap9 T C 6: 48,655,285 (GRCm39) W291R probably damaging Het
Gm4847 G A 1: 166,457,892 (GRCm39) A487V probably damaging Het
Gria4 T A 9: 4,420,199 (GRCm39) I888F probably benign Het
Hapln2 T A 3: 87,930,600 (GRCm39) I224F probably damaging Het
Herc1 T G 9: 66,283,663 (GRCm39) L332R possibly damaging Het
Hmgxb4 T C 8: 75,749,927 (GRCm39) V481A probably benign Het
Htr1d T C 4: 136,170,109 (GRCm39) S113P probably damaging Het
Ift81 T C 5: 122,689,163 (GRCm39) Q651R probably benign Het
Il17ra T C 6: 120,452,234 (GRCm39) S199P probably damaging Het
Itih2 T C 2: 10,103,318 (GRCm39) N723S probably benign Het
Jak1 A T 4: 101,032,325 (GRCm39) V427E probably damaging Het
Krt23 C T 11: 99,376,584 (GRCm39) D191N probably damaging Het
Lingo1 T A 9: 56,526,934 (GRCm39) I552F possibly damaging Het
Llgl2 G A 11: 115,737,812 (GRCm39) R199Q probably benign Het
Lrrc37a G T 11: 103,392,042 (GRCm39) Q1128K possibly damaging Het
Lrrc74a T C 12: 86,783,263 (GRCm39) V36A probably benign Het
M1ap T A 6: 82,980,877 (GRCm39) D254E possibly damaging Het
Mal2 C T 15: 54,434,794 (GRCm39) probably benign Het
Mbnl2 A G 14: 120,622,833 (GRCm39) T124A probably benign Het
Nfatc1 A G 18: 80,755,885 (GRCm39) S33P probably benign Het
Nfkbid A G 7: 30,125,162 (GRCm39) N253S probably damaging Het
Ngfr T A 11: 95,465,267 (GRCm39) I194F probably benign Het
Nhsl1 A G 10: 18,345,789 (GRCm39) probably benign Het
Nol9 T A 4: 152,125,691 (GRCm39) I214N possibly damaging Het
Or1o3 A G 17: 37,573,635 (GRCm39) S307P probably benign Het
Or5p56 T C 7: 107,590,307 (GRCm39) L245P probably damaging Het
Or8k3 T A 2: 86,058,578 (GRCm39) T246S possibly damaging Het
Pax3 C T 1: 78,169,186 (GRCm39) S160N possibly damaging Het
Pde3b A G 7: 114,122,267 (GRCm39) probably null Het
Pde5a A C 3: 122,522,956 (GRCm39) E21A probably benign Het
Plcxd1 A G 5: 110,250,469 (GRCm39) E270G probably damaging Het
Plxna1 T A 6: 89,333,586 (GRCm39) K348* probably null Het
Pramel34 A T 5: 93,785,937 (GRCm39) N114K probably benign Het
Prb1b T A 6: 132,289,692 (GRCm39) H44L unknown Het
Psg21 G T 7: 18,388,926 (GRCm39) D55E possibly damaging Het
Rasa1 C A 13: 85,381,814 (GRCm39) A493S probably benign Het
Raver2 A G 4: 100,990,814 (GRCm39) I396V probably benign Het
Rpa2 A G 4: 132,502,331 (GRCm39) K138E probably benign Het
Rsad1 T C 11: 94,439,062 (GRCm39) N133D probably damaging Het
Rusc1 T C 3: 88,999,188 (GRCm39) D198G probably benign Het
Samsn1 A T 16: 75,667,803 (GRCm39) Y258N probably damaging Het
Scap A G 9: 110,203,135 (GRCm39) N270D probably benign Het
Shisal2a A T 4: 108,225,052 (GRCm39) I170N probably damaging Het
Smpd4 T C 16: 17,449,877 (GRCm39) Y200H probably damaging Het
Steap2 A G 5: 5,725,881 (GRCm39) V381A probably damaging Het
Syk C T 13: 52,765,089 (GRCm39) T72I probably damaging Het
Tbc1d14 T C 5: 36,729,228 (GRCm39) D66G possibly damaging Het
Tcp11 A G 17: 28,290,691 (GRCm39) Y223H probably benign Het
Timm9 A G 12: 71,173,124 (GRCm39) S8P probably benign Het
Tmpo T C 10: 91,000,069 (GRCm39) probably null Het
Vezf1 T C 11: 87,967,012 (GRCm39) M81T probably benign Het
Vipr1 T A 9: 121,493,719 (GRCm39) W257R probably damaging Het
Vmn1r237 G A 17: 21,534,556 (GRCm39) G93D probably damaging Het
Vmn2r6 A G 3: 64,445,424 (GRCm39) V678A probably benign Het
Vmn2r85 T C 10: 130,261,330 (GRCm39) T336A possibly damaging Het
Xpnpep3 C A 15: 81,322,300 (GRCm39) D296E probably benign Het
Zfp35 C A 18: 24,137,118 (GRCm39) H487Q probably benign Het
Zfp606 A T 7: 12,227,928 (GRCm39) Y625F probably damaging Het
Zfp677 A G 17: 21,617,530 (GRCm39) T196A possibly damaging Het
Zmym1 T C 4: 126,941,677 (GRCm39) I904V 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
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 PCR Primer
(F):5'- TTCCCACCTTGATGTCTAGGG -3'
(R):5'- GACAGACAGTCAGCTTCACC -3'

Sequencing Primer
(F):5'- CCACCTTGATGTCTAGGGATGAC -3'
(R):5'- GCTCCAACATCCCCTGTACAG -3'
Posted On 2018-02-27