Incidental Mutation 'R9165:Ak9'
| ID |
696002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
068945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41179433-41309565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41309235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1879
(K1879R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000173494
AA Change: K1879R
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: K1879R
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
C |
17: 48,348,357 (GRCm39) |
I27V |
probably benign |
Het |
| A2ml1 |
T |
A |
6: 128,537,632 (GRCm39) |
H693L |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,354,744 (GRCm39) |
E1206G |
probably benign |
Het |
| Acoxl |
A |
G |
2: 127,726,432 (GRCm39) |
T269A |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Bnc2 |
A |
T |
4: 84,329,731 (GRCm39) |
L95Q |
|
Het |
| Bpifa2 |
G |
T |
2: 153,851,741 (GRCm39) |
W59L |
probably benign |
Het |
| Cd209a |
T |
A |
8: 3,795,602 (GRCm39) |
Q156H |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,078,971 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
A |
G |
7: 44,608,925 (GRCm39) |
*799R |
probably null |
Het |
| Csn2 |
A |
T |
5: 87,842,418 (GRCm39) |
M203K |
possibly damaging |
Het |
| Dclre1a |
C |
G |
19: 56,526,801 (GRCm39) |
A872P |
probably damaging |
Het |
| Dlg5 |
C |
A |
14: 24,196,309 (GRCm39) |
L1629F |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,011,992 (GRCm39) |
D1383G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,121,924 (GRCm39) |
V1381A |
probably damaging |
Het |
| Dnttip2 |
G |
T |
3: 122,070,355 (GRCm39) |
E523D |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,114,883 (GRCm39) |
V2425D |
probably damaging |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,077 (GRCm39) |
S102G |
possibly damaging |
Het |
| Eif2a |
G |
A |
3: 58,452,695 (GRCm39) |
R199Q |
probably damaging |
Het |
| F10 |
T |
C |
8: 13,089,564 (GRCm39) |
F60L |
probably benign |
Het |
| Faf2 |
A |
G |
13: 54,799,951 (GRCm39) |
I253V |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,552,047 (GRCm39) |
S715C |
probably damaging |
Het |
| Garin4 |
A |
G |
1: 190,895,258 (GRCm39) |
S462P |
probably benign |
Het |
| Gm5150 |
G |
T |
3: 16,045,060 (GRCm39) |
T55K |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,076,759 (GRCm39) |
F121L |
possibly damaging |
Het |
| Gucy2d |
A |
G |
7: 98,103,271 (GRCm39) |
Q505R |
probably benign |
Het |
| Gzma |
A |
T |
13: 113,237,455 (GRCm39) |
S11T |
probably benign |
Het |
| Hoxa6 |
G |
A |
6: 52,185,535 (GRCm39) |
Q24* |
probably null |
Het |
| Kcnj14 |
T |
A |
7: 45,469,068 (GRCm39) |
I146L |
possibly damaging |
Het |
| Kiss1r |
G |
A |
10: 79,756,605 (GRCm39) |
R149H |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,929,022 (GRCm39) |
|
probably null |
Het |
| Lama5 |
C |
A |
2: 179,821,286 (GRCm39) |
R3092L |
probably damaging |
Het |
| Lca5l |
T |
A |
16: 95,977,218 (GRCm39) |
N196I |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,394 (GRCm39) |
L462S |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,912,289 (GRCm39) |
V1166E |
probably benign |
Het |
| Nr2c1 |
T |
A |
10: 94,017,465 (GRCm39) |
F401Y |
probably benign |
Het |
| Or10ak12 |
T |
A |
4: 118,666,195 (GRCm39) |
R289* |
probably null |
Het |
| Or14c43 |
A |
T |
7: 86,114,825 (GRCm39) |
M69L |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,727,830 (GRCm39) |
I197T |
possibly damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,286 (GRCm39) |
M119L |
probably damaging |
Het |
| Otop3 |
A |
C |
11: 115,235,424 (GRCm39) |
Y352S |
possibly damaging |
Het |
| Plekha6 |
T |
G |
1: 133,200,375 (GRCm39) |
L318R |
probably damaging |
Het |
| Pm20d1 |
G |
T |
1: 131,743,825 (GRCm39) |
V497F |
possibly damaging |
Het |
| Pnma2 |
G |
A |
14: 67,154,572 (GRCm39) |
R332H |
probably damaging |
Het |
| Ppip5k1 |
C |
A |
2: 121,162,045 (GRCm39) |
G1013C |
probably damaging |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Prdm2 |
A |
G |
4: 142,858,674 (GRCm39) |
S1539P |
possibly damaging |
Het |
| Ptger2 |
A |
G |
14: 45,227,235 (GRCm39) |
T272A |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,618,815 (GRCm39) |
T576A |
probably benign |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Sacm1l |
G |
T |
9: 123,398,021 (GRCm39) |
V238L |
probably damaging |
Het |
| Sanbr |
T |
C |
11: 23,565,244 (GRCm39) |
I248V |
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,313,645 (GRCm39) |
G454D |
|
Het |
| Sil1 |
A |
G |
18: 35,450,899 (GRCm39) |
S259P |
possibly damaging |
Het |
| Sirpb1b |
A |
G |
3: 15,639,964 (GRCm39) |
L16P |
probably damaging |
Het |
| Slc22a20 |
A |
T |
19: 6,032,879 (GRCm39) |
V262D |
probably damaging |
Het |
| Slc4a9 |
G |
T |
18: 36,666,676 (GRCm39) |
R580L |
probably benign |
Het |
| Ssr3 |
A |
G |
3: 65,290,521 (GRCm39) |
V128A |
probably damaging |
Het |
| Stpg2 |
G |
T |
3: 139,014,993 (GRCm39) |
S386I |
possibly damaging |
Het |
| Taar8c |
C |
A |
10: 23,977,500 (GRCm39) |
C104F |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,458,095 (GRCm39) |
E445G |
unknown |
Het |
| Tmem253 |
A |
C |
14: 52,256,099 (GRCm39) |
D126A |
probably benign |
Het |
| Tox4 |
A |
G |
14: 52,523,247 (GRCm39) |
Q69R |
possibly damaging |
Het |
| Tpi1 |
T |
A |
6: 124,788,501 (GRCm39) |
S254C |
probably benign |
Het |
| Trmt12 |
T |
G |
15: 58,745,594 (GRCm39) |
S331A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,543,350 (GRCm39) |
V33212A |
probably damaging |
Het |
| Tubb4a |
C |
T |
17: 57,387,734 (GRCm39) |
E431K |
unknown |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,509 (GRCm39) |
E102D |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,589,000 (GRCm39) |
E1055V |
probably null |
Het |
| Vav1 |
C |
A |
17: 57,618,895 (GRCm39) |
S708R |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,246 (GRCm39) |
M191V |
probably damaging |
Het |
| Vmn1r37 |
A |
T |
6: 66,709,054 (GRCm39) |
T227S |
probably damaging |
Het |
| Vmn1r72 |
C |
A |
7: 11,412,951 (GRCm39) |
|
probably benign |
Het |
| Vps33b |
G |
A |
7: 79,924,434 (GRCm39) |
|
probably null |
Het |
| Vrtn |
T |
A |
12: 84,697,251 (GRCm39) |
L667Q |
probably benign |
Het |
| Xirp1 |
G |
A |
9: 119,847,302 (GRCm39) |
T527M |
probably benign |
Het |
| Ylpm1 |
T |
A |
12: 85,077,342 (GRCm39) |
Y1356N |
probably damaging |
Het |
| Zfp980 |
A |
T |
4: 145,428,024 (GRCm39) |
Y251F |
possibly damaging |
Het |
| Zmym2 |
A |
T |
14: 57,185,464 (GRCm39) |
Y1032F |
probably 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 |
|
|
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 |
|
|
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'- GGCATGGCTTACTAACCACC -3'
(R):5'- ATCTGAGGCCCAGGAACTAC -3'
Sequencing Primer
(F):5'- ATGGCTTACTAACCACCTGTCAG -3'
(R):5'- CTACATACACAACATTAGGCAGGAGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation