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)
|
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
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: 99.1%
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |