Incidental Mutation 'R6812:Ak9'
| ID |
533856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
044924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6812 (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 T
at 41243163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 686
(M686L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000173494
AA Change: M686L
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: M686L
| 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 |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
C |
T |
16: 56,616,161 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
A |
T |
13: 94,616,369 (GRCm39) |
T757S |
unknown |
Het |
| Apob |
A |
T |
12: 8,033,062 (GRCm39) |
K139N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,094,037 (GRCm39) |
E270G |
possibly damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,112,444 (GRCm39) |
C515S |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,311,035 (GRCm39) |
Y37H |
probably damaging |
Het |
| Birc2 |
T |
G |
9: 7,854,418 (GRCm39) |
D424A |
probably damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,412,469 (GRCm39) |
F324L |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,029 (GRCm39) |
I409N |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,972,335 (GRCm39) |
I1233N |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,735,268 (GRCm39) |
S739P |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,599,863 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
T |
C |
6: 148,982,630 (GRCm39) |
|
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,795,120 (GRCm39) |
S464G |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,872,155 (GRCm39) |
V2692M |
probably damaging |
Het |
| Dvl2 |
T |
C |
11: 69,891,821 (GRCm39) |
Y55H |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,830,687 (GRCm39) |
Q140H |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,467 (GRCm39) |
V460M |
probably benign |
Het |
| Etv2 |
G |
T |
7: 30,333,426 (GRCm39) |
C265* |
probably null |
Het |
| F12 |
T |
C |
13: 55,569,658 (GRCm39) |
E146G |
probably damaging |
Het |
| Fdps |
C |
A |
3: 89,001,783 (GRCm39) |
E301D |
possibly damaging |
Het |
| Fsd2 |
G |
T |
7: 81,184,837 (GRCm39) |
H686Q |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,032,802 (GRCm39) |
S262P |
probably damaging |
Het |
| Gm20730 |
A |
G |
6: 43,058,722 (GRCm39) |
V30A |
probably benign |
Het |
| Gpr68 |
C |
A |
12: 100,844,670 (GRCm39) |
E291D |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,674,993 (GRCm39) |
V1006A |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,431,891 (GRCm39) |
|
probably null |
Het |
| Kif2a |
A |
T |
13: 107,106,259 (GRCm39) |
D570E |
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,414 (GRCm39) |
A365D |
probably damaging |
Het |
| Lias |
T |
A |
5: 65,566,132 (GRCm39) |
V373E |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,312,461 (GRCm39) |
V169A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,977,228 (GRCm39) |
I319N |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,668,818 (GRCm39) |
K315I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,340,108 (GRCm39) |
D803G |
probably damaging |
Het |
| Obi1 |
A |
G |
14: 104,747,868 (GRCm39) |
V40A |
unknown |
Het |
| Or5b119 |
T |
C |
19: 13,456,975 (GRCm39) |
T196A |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,178,701 (GRCm39) |
S536P |
possibly damaging |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Prkaa2 |
T |
A |
4: 104,904,349 (GRCm39) |
T243S |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,103,153 (GRCm39) |
V877D |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,466,468 (GRCm39) |
|
probably null |
Het |
| Rbm48 |
A |
G |
5: 3,646,105 (GRCm39) |
V33A |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,699,544 (GRCm39) |
R1347L |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,816,180 (GRCm39) |
F124L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,777,251 (GRCm39) |
G302D |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,314,819 (GRCm39) |
N314S |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,122,067 (GRCm39) |
R907W |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 144,062,169 (GRCm39) |
|
probably null |
Het |
| Tmc1 |
A |
C |
19: 20,878,225 (GRCm39) |
L90R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,130 (GRCm39) |
V201A |
probably benign |
Het |
| Uvrag |
T |
A |
7: 98,537,689 (GRCm39) |
H502L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,434,859 (GRCm39) |
I1760N |
probably damaging |
Het |
| Zfp318 |
G |
GAAGAAT |
17: 46,723,468 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,209,307 (GRCm39) |
D61G |
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 |
|
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'- CAGTGTAACAGCTCACCTGACC -3'
(R):5'- TGGAAATCAGAACACTTTGGGG -3'
Sequencing Primer
(F):5'- CACTGCGATAAAGTTGTTCATTTC -3'
(R):5'- CTTTGGGGATGAAAAGTGCAGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation