Incidental Mutation 'R8032:Ak9'
| ID |
618035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41179433-41309565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41300616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1609
(C1609S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000173494
AA Change: C1609S
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: C1609S
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
T |
A |
4: 154,751,955 (GRCm39) |
E60D |
probably benign |
Het |
| Adamts12 |
T |
C |
15: 11,259,189 (GRCm39) |
|
probably null |
Het |
| Aox1 |
A |
T |
1: 58,389,442 (GRCm39) |
Y1147F |
probably benign |
Het |
| Atf7ip |
T |
C |
6: 136,542,110 (GRCm39) |
F615L |
probably benign |
Het |
| BC005624 |
A |
G |
2: 30,865,901 (GRCm39) |
|
probably null |
Het |
| BC024063 |
T |
A |
10: 81,943,738 (GRCm39) |
M33K |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,906,502 (GRCm39) |
S532T |
probably benign |
Het |
| Cast |
G |
A |
13: 74,883,360 (GRCm39) |
Q292* |
probably null |
Het |
| Ccdc7a |
G |
T |
8: 129,551,864 (GRCm39) |
H1249N |
unknown |
Het |
| Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
| Col15a1 |
T |
C |
4: 47,288,108 (GRCm39) |
I4T |
unknown |
Het |
| Cyp2c39 |
A |
G |
19: 39,499,426 (GRCm39) |
I38V |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,821,978 (GRCm39) |
D312G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,993,505 (GRCm39) |
D2892G |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,823,676 (GRCm39) |
D566N |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Exd2 |
T |
A |
12: 80,536,427 (GRCm39) |
D352E |
probably benign |
Het |
| Fgf8 |
A |
T |
19: 45,725,676 (GRCm39) |
L187Q |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,672,009 (GRCm39) |
I36V |
probably benign |
Het |
| Gga2 |
A |
T |
7: 121,620,210 (GRCm39) |
|
probably null |
Het |
| Gigyf2 |
C |
G |
1: 87,334,735 (GRCm39) |
H249D |
unknown |
Het |
| Gli2 |
A |
T |
1: 118,763,900 (GRCm39) |
M1417K |
probably damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm49380 |
A |
T |
9: 44,023,000 (GRCm39) |
I416N |
probably damaging |
Het |
| Gpr137 |
T |
C |
19: 6,919,480 (GRCm39) |
T16A |
unknown |
Het |
| Grid1 |
T |
A |
14: 35,045,316 (GRCm39) |
D386E |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,562,272 (GRCm39) |
V526A |
probably benign |
Het |
| Havcr2 |
A |
T |
11: 46,370,118 (GRCm39) |
I231F |
probably damaging |
Het |
| Icam5 |
C |
A |
9: 20,944,514 (GRCm39) |
R72S |
probably benign |
Het |
| Ighv9-2 |
T |
A |
12: 114,072,764 (GRCm39) |
I70L |
possibly damaging |
Het |
| Inpp5e |
C |
T |
2: 26,286,865 (GRCm39) |
S119N |
|
Het |
| Kash5 |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
7: 44,837,608 (GRCm39) |
|
probably benign |
Het |
| Kash5 |
TCAGGC |
TCAGGCACAGGC |
7: 44,837,630 (GRCm39) |
|
probably benign |
Het |
| Kxd1 |
T |
A |
8: 70,966,791 (GRCm39) |
D110V |
possibly damaging |
Het |
| Mbd4 |
A |
G |
6: 115,821,594 (GRCm39) |
S474P |
probably damaging |
Het |
| Meaf6 |
C |
A |
4: 124,996,795 (GRCm39) |
H168Q |
unknown |
Het |
| Nek2 |
T |
C |
1: 191,558,457 (GRCm39) |
L254S |
probably damaging |
Het |
| Nhej1 |
T |
C |
1: 75,007,959 (GRCm39) |
D104G |
probably benign |
Het |
| Nmnat3 |
A |
G |
9: 98,292,271 (GRCm39) |
E172G |
probably benign |
Het |
| Npm3 |
A |
T |
19: 45,736,682 (GRCm39) |
D152E |
probably benign |
Het |
| Nsd1 |
A |
T |
13: 55,458,196 (GRCm39) |
K2103M |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,005,807 (GRCm39) |
R518H |
probably damaging |
Het |
| Nup210 |
T |
A |
6: 91,051,331 (GRCm39) |
T351S |
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,434,924 (GRCm39) |
R131S |
possibly damaging |
Het |
| Or9g19 |
A |
G |
2: 85,600,210 (GRCm39) |
I22V |
probably benign |
Het |
| Otof |
T |
A |
5: 30,619,142 (GRCm39) |
M1L |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,025,278 (GRCm39) |
Y477N |
probably damaging |
Het |
| Panx3 |
A |
G |
9: 37,572,966 (GRCm39) |
Y195H |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,692,151 (GRCm39) |
R178G |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,314,429 (GRCm39) |
S56P |
possibly damaging |
Het |
| Prcp |
T |
G |
7: 92,577,906 (GRCm39) |
C392G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,597,315 (GRCm39) |
K2825R |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,029,918 (GRCm39) |
Y468* |
probably null |
Het |
| Rbmxl2 |
A |
G |
7: 106,809,429 (GRCm39) |
Y238C |
probably damaging |
Het |
| Scgb2b20 |
A |
T |
7: 33,065,724 (GRCm39) |
M1K |
probably null |
Het |
| Slc25a18 |
G |
A |
6: 120,769,452 (GRCm39) |
G237D |
probably damaging |
Het |
| Slc9a3 |
G |
A |
13: 74,305,763 (GRCm39) |
G260D |
probably damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,463,846 (GRCm39) |
S201R |
probably benign |
Het |
| Strip1 |
A |
C |
3: 107,525,394 (GRCm39) |
D547E |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,555,287 (GRCm39) |
C199Y |
|
Het |
| Top1mt |
A |
G |
15: 75,540,572 (GRCm39) |
V233A |
probably damaging |
Het |
| Tpp2 |
C |
G |
1: 44,014,628 (GRCm39) |
P656A |
possibly damaging |
Het |
| Ttc1 |
A |
T |
11: 43,628,806 (GRCm39) |
L193Q |
probably damaging |
Het |
| Ttll4 |
T |
A |
1: 74,735,632 (GRCm39) |
D1013E |
possibly damaging |
Het |
| Unc5a |
T |
C |
13: 55,144,299 (GRCm39) |
V208A |
possibly damaging |
Het |
| Vmn1r185 |
C |
A |
7: 26,310,558 (GRCm39) |
V316F |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,375 (GRCm39) |
V351E |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,751,043 (GRCm39) |
K2391* |
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,677,854 (GRCm39) |
V2968A |
possibly damaging |
Het |
| Zfp551 |
G |
A |
7: 12,152,487 (GRCm39) |
A82V |
possibly damaging |
Het |
|
| Other mutations in Ak9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- TGAGTGCCTCTCACAGTGAG -3'
(R):5'- TACATTTAGCTTTTCCTGGGAACTC -3'
Sequencing Primer
(F):5'- TGGCTTAAAACTTGGAGCCC -3'
(R):5'- GGGAACTCATTTTATAGTAGTGTCCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation