Incidental Mutation 'R7698:Ak9'
| ID |
593791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
045759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R7698 (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 C
at 41224072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 495
(L495S)
|
| 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: L495S
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630023A22Rik |
C |
A |
14: 33,774,570 (GRCm39) |
L140F |
unknown |
Het |
| Actn1 |
T |
C |
12: 80,221,311 (GRCm39) |
T581A |
probably benign |
Het |
| Aldh5a1 |
T |
C |
13: 25,095,731 (GRCm39) |
D462G |
probably damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,833 (GRCm39) |
D73G |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,825,860 (GRCm39) |
Y361H |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,704,093 (GRCm39) |
Y342H |
probably benign |
Het |
| Atp8b5 |
C |
T |
4: 43,366,735 (GRCm39) |
T833I |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,884,482 (GRCm39) |
I313T |
probably damaging |
Het |
| Cdk18 |
T |
C |
1: 132,050,116 (GRCm39) |
T20A |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,394,269 (GRCm39) |
C479S |
probably benign |
Het |
| Cfap221 |
C |
A |
1: 119,889,659 (GRCm39) |
E192* |
probably null |
Het |
| Cfap44 |
C |
T |
16: 44,254,149 (GRCm39) |
H958Y |
probably damaging |
Het |
| Cic |
A |
T |
7: 24,972,597 (GRCm39) |
Q776L |
possibly damaging |
Het |
| Cldn17 |
C |
A |
16: 88,303,244 (GRCm39) |
G162* |
probably null |
Het |
| Col19a1 |
T |
A |
1: 24,351,159 (GRCm39) |
Y748F |
probably benign |
Het |
| Col27a1 |
C |
T |
4: 63,143,955 (GRCm39) |
P548S |
possibly damaging |
Het |
| Cracdl |
T |
G |
1: 37,664,452 (GRCm39) |
E482A |
probably benign |
Het |
| Ctsr |
T |
A |
13: 61,310,381 (GRCm39) |
M92L |
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
| Defa34 |
G |
T |
8: 22,156,645 (GRCm39) |
C91F |
probably damaging |
Het |
| Dennd2c |
G |
A |
3: 103,072,359 (GRCm39) |
V815I |
possibly damaging |
Het |
| Dlgap4 |
C |
T |
2: 156,591,015 (GRCm39) |
Q734* |
probably null |
Het |
| Dph1 |
A |
T |
11: 75,081,267 (GRCm39) |
S7T |
probably benign |
Het |
| Dpp8 |
T |
C |
9: 64,949,618 (GRCm39) |
V121A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,229,468 (GRCm39) |
G2354S |
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,111,245 (GRCm39) |
L1453Q |
probably damaging |
Het |
| Ecpas |
C |
G |
4: 58,832,660 (GRCm39) |
C900S |
unknown |
Het |
| Exosc10 |
T |
A |
4: 148,642,955 (GRCm39) |
S11T |
probably benign |
Het |
| Fetub |
A |
G |
16: 22,758,059 (GRCm39) |
T281A |
probably benign |
Het |
| Flii |
A |
T |
11: 60,610,918 (GRCm39) |
W504R |
probably damaging |
Het |
| Gm5093 |
T |
C |
17: 46,750,866 (GRCm39) |
R54G |
possibly damaging |
Het |
| Gmcl1 |
T |
C |
6: 86,684,397 (GRCm39) |
D375G |
probably benign |
Het |
| Hikeshi |
A |
T |
7: 89,572,889 (GRCm39) |
N101K |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,313,165 (GRCm39) |
V3458A |
probably damaging |
Het |
| Hspa2 |
A |
G |
12: 76,452,083 (GRCm39) |
N259S |
possibly damaging |
Het |
| Irf6 |
T |
C |
1: 192,844,075 (GRCm39) |
I110T |
probably damaging |
Het |
| Kcnj8 |
T |
A |
6: 142,511,479 (GRCm39) |
H376L |
probably damaging |
Het |
| Kdm6b |
G |
A |
11: 69,296,807 (GRCm39) |
P487S |
probably benign |
Het |
| Lcp1 |
C |
A |
14: 75,443,651 (GRCm39) |
Y222* |
probably null |
Het |
| Manea |
T |
C |
4: 26,327,763 (GRCm39) |
D426G |
probably damaging |
Het |
| Map3k20 |
G |
T |
2: 72,195,025 (GRCm39) |
E101* |
probably null |
Het |
| Map3k20 |
C |
G |
2: 72,268,658 (GRCm39) |
S555C |
probably benign |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Myo6 |
C |
T |
9: 80,124,938 (GRCm39) |
P6S |
unknown |
Het |
| Myoc |
A |
T |
1: 162,467,014 (GRCm39) |
Q61L |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,965,500 (GRCm39) |
M1183K |
probably benign |
Het |
| Or52e7 |
T |
A |
7: 104,685,114 (GRCm39) |
H236Q |
probably benign |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,404 (GRCm39) |
F26S |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,840,077 (GRCm39) |
S313P |
possibly damaging |
Het |
| Or8b40 |
T |
A |
9: 38,027,188 (GRCm39) |
L37* |
probably null |
Het |
| Osbpl11 |
C |
G |
16: 33,054,817 (GRCm39) |
N633K |
probably benign |
Het |
| Pate7 |
T |
C |
9: 35,688,472 (GRCm39) |
M38V |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,684 (GRCm39) |
E493G |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,136,058 (GRCm39) |
W626R |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,058,523 (GRCm39) |
Q402K |
probably benign |
Het |
| Plch2 |
C |
T |
4: 155,087,244 (GRCm39) |
D336N |
possibly damaging |
Het |
| Plk1 |
T |
C |
7: 121,768,481 (GRCm39) |
F535L |
probably damaging |
Het |
| Ppp1r9a |
A |
T |
6: 4,906,430 (GRCm39) |
E328D |
probably benign |
Het |
| Prss44 |
G |
A |
9: 110,646,379 (GRCm39) |
V369M |
probably benign |
Het |
| Rilp |
A |
G |
11: 75,401,798 (GRCm39) |
S193G |
probably benign |
Het |
| Rusc2 |
C |
T |
4: 43,414,900 (GRCm39) |
Q69* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,776,201 (GRCm39) |
D1112G |
possibly damaging |
Het |
| Smc6 |
A |
G |
12: 11,333,141 (GRCm39) |
R238G |
possibly damaging |
Het |
| Spen |
A |
G |
4: 141,200,156 (GRCm39) |
S2824P |
probably damaging |
Het |
| Stk4 |
T |
C |
2: 163,925,663 (GRCm39) |
M77T |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,995,838 (GRCm39) |
H2126L |
probably damaging |
Het |
| Thsd1 |
C |
T |
8: 22,749,003 (GRCm39) |
R625* |
probably null |
Het |
| Tle3 |
A |
T |
9: 61,320,138 (GRCm39) |
N522I |
probably damaging |
Het |
| Tmcc1 |
C |
A |
6: 116,020,763 (GRCm39) |
E230* |
probably null |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,596 (GRCm39) |
S587P |
probably benign |
Het |
| Wt1 |
A |
T |
2: 104,957,161 (GRCm39) |
Q7L |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,300,306 (GRCm39) |
I2482V |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,959,487 (GRCm39) |
I189F |
probably benign |
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 |
|
|
|
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'- TGAAACCAAGCCTGTCCGAC -3'
(R):5'- CACATAGGTTTTCTCGGCAGTTC -3'
Sequencing Primer
(F):5'- GACTGGACCAATACCTTGTAACG -3'
(R):5'- TTAACCTGGTCCCCGGTAATGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation