Incidental Mutation 'R6331:Ak9'
| ID |
510926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
044485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R6331 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41179433-41309565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41258825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 774
(V774A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173494
AA Change: V774A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: V774A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216029
|
| Meta Mutation Damage Score |
0.0696 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| A2ml1 |
T |
C |
6: 128,529,199 (GRCm39) |
D981G |
probably damaging |
Het |
| Abcc1 |
C |
A |
16: 14,282,920 (GRCm39) |
A1132D |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,241,519 (GRCm39) |
T364A |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,983,989 (GRCm39) |
M1758L |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,915,172 (GRCm39) |
E1934G |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,774,092 (GRCm39) |
A341T |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,238,816 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,175 (GRCm39) |
I1150T |
probably benign |
Het |
| Brd10 |
C |
T |
19: 29,695,147 (GRCm39) |
V1449I |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,638,144 (GRCm39) |
T241A |
probably benign |
Het |
| Chd5 |
G |
T |
4: 152,466,865 (GRCm39) |
R1627S |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,785,908 (GRCm39) |
S322P |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,877,256 (GRCm39) |
C498* |
probably null |
Het |
| Diaph3 |
T |
G |
14: 87,103,976 (GRCm39) |
S803R |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,354,991 (GRCm39) |
L10P |
probably damaging |
Het |
| Gcc2 |
T |
C |
10: 58,107,287 (GRCm39) |
V741A |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,194,162 (GRCm39) |
M119V |
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,941,718 (GRCm39) |
S574P |
possibly damaging |
Het |
| Hapln4 |
T |
A |
8: 70,537,073 (GRCm39) |
|
probably benign |
Het |
| Hars1 |
A |
G |
18: 36,904,385 (GRCm39) |
V209A |
probably benign |
Het |
| Htt |
T |
A |
5: 35,053,231 (GRCm39) |
F2521L |
possibly damaging |
Het |
| Kif14 |
A |
G |
1: 136,443,724 (GRCm39) |
D1299G |
probably null |
Het |
| Krt25 |
T |
A |
11: 99,208,253 (GRCm39) |
E325V |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 122,977,405 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,693,221 (GRCm39) |
N3266K |
probably damaging |
Het |
| Mctp1 |
T |
A |
13: 77,168,982 (GRCm39) |
|
probably null |
Het |
| Mtarc2 |
A |
G |
1: 184,551,525 (GRCm39) |
S304P |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,503,688 (GRCm39) |
N379S |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,908,037 (GRCm39) |
D1358E |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,901,968 (GRCm39) |
E939G |
probably damaging |
Het |
| Obox1 |
A |
G |
7: 15,289,294 (GRCm39) |
R70G |
probably benign |
Het |
| Or13c25 |
A |
G |
4: 52,911,399 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,144 (GRCm39) |
E180G |
probably benign |
Het |
| Or4a2 |
C |
T |
2: 89,248,695 (GRCm39) |
G21S |
probably benign |
Het |
| Or5m12 |
T |
C |
2: 85,734,560 (GRCm39) |
I279M |
probably benign |
Het |
| Otof |
T |
C |
5: 30,529,279 (GRCm39) |
D1745G |
possibly damaging |
Het |
| Pklr |
A |
G |
3: 89,044,662 (GRCm39) |
I47V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,851,451 (GRCm39) |
S123T |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,198 (GRCm39) |
S337P |
probably damaging |
Het |
| Ptgfrn |
A |
C |
3: 100,952,936 (GRCm39) |
V766G |
possibly damaging |
Het |
| Ptpn11 |
T |
A |
5: 121,282,716 (GRCm39) |
H419L |
probably damaging |
Het |
| Rims3 |
T |
A |
4: 120,740,350 (GRCm39) |
V99E |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,313,571 (GRCm39) |
R228H |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,361 (GRCm39) |
V300A |
probably damaging |
Het |
| Sdad1 |
T |
C |
5: 92,451,789 (GRCm39) |
D144G |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,178 (GRCm39) |
Y22H |
possibly damaging |
Het |
| Slc39a1 |
A |
G |
3: 90,159,588 (GRCm39) |
K305R |
possibly damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,014,034 (GRCm39) |
R414G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,753,500 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9b |
C |
T |
11: 50,022,324 (GRCm39) |
A20V |
possibly damaging |
Het |
| Tgfb3 |
G |
T |
12: 86,110,638 (GRCm39) |
D237E |
probably benign |
Het |
| Tle6 |
A |
G |
10: 81,431,073 (GRCm39) |
S234P |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,815 (GRCm39) |
N439S |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,248,925 (GRCm39) |
S783P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,632,698 (GRCm39) |
Y12373N |
probably damaging |
Het |
| Tube1 |
G |
A |
10: 39,010,097 (GRCm39) |
V7I |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,088,410 (GRCm39) |
V265A |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,877,402 (GRCm39) |
H1550R |
possibly damaging |
Het |
| Usp33 |
A |
T |
3: 152,081,887 (GRCm39) |
M546L |
probably damaging |
Het |
| Uspl1 |
C |
A |
5: 149,151,097 (GRCm39) |
Q752K |
probably benign |
Het |
| Vmn1r20 |
A |
G |
6: 57,408,655 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,521 (GRCm39) |
F245S |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,186,182 (GRCm39) |
S168P |
probably damaging |
Het |
| Wdr24 |
T |
G |
17: 26,044,650 (GRCm39) |
D168E |
possibly damaging |
Het |
| Zfp646 |
C |
T |
7: 127,482,853 (GRCm39) |
P1677S |
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 |
|
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'- TCTGAGACTGGCTACATCGAG -3'
(R):5'- ACACATAATTCATATTGGCTGGCAC -3'
Sequencing Primer
(F):5'- AGACTGGCTACATCGAGACTGTC -3'
(R):5'- TTCATATTGGCTGGCACACAAC -3'
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| Posted On |
2018-04-02 |
Incidental Mutation