Incidental Mutation 'R7401:Ak9'
| ID |
574174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
045483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R7401 (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 T
at 41299000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1567
(D1567V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000173494
AA Change: D1567V
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: D1567V
| 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: 100.0%
- 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 |
|---|
| 2610318N02Rik |
A |
T |
16: 16,936,268 (GRCm39) |
L152Q |
probably benign |
Het |
| Abcg3 |
A |
T |
5: 105,114,640 (GRCm39) |
N292K |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,855,309 (GRCm39) |
|
probably null |
Het |
| Adgrg7 |
T |
C |
16: 56,562,781 (GRCm39) |
N519D |
probably benign |
Het |
| Adsl |
A |
G |
15: 80,846,983 (GRCm39) |
H263R |
probably damaging |
Het |
| Bscl2 |
T |
C |
19: 8,823,914 (GRCm39) |
F280L |
possibly damaging |
Het |
| Cacna1b |
T |
A |
2: 24,569,306 (GRCm39) |
T873S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 119,029,669 (GRCm39) |
|
probably null |
Het |
| Cast |
G |
T |
13: 74,956,577 (GRCm39) |
A18E |
unknown |
Het |
| Cd207 |
A |
C |
6: 83,654,830 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
A |
G |
11: 106,203,678 (GRCm39) |
S130P |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,840,459 (GRCm39) |
N157K |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Chaf1b |
G |
T |
16: 93,681,268 (GRCm39) |
|
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,215,870 (GRCm39) |
I968V |
probably benign |
Het |
| Cntn5 |
C |
T |
9: 9,833,466 (GRCm39) |
V362I |
probably benign |
Het |
| Crem |
A |
G |
18: 3,295,329 (GRCm39) |
S80P |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,063,390 (GRCm39) |
T267I |
probably damaging |
Het |
| Cyth1 |
A |
T |
11: 118,073,077 (GRCm39) |
N274K |
possibly damaging |
Het |
| Dicer1 |
C |
T |
12: 104,678,537 (GRCm39) |
G594S |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,521,180 (GRCm39) |
C849Y |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,622,979 (GRCm39) |
E1189G |
possibly damaging |
Het |
| Fermt1 |
C |
A |
2: 132,759,479 (GRCm39) |
V426L |
probably benign |
Het |
| Fes |
A |
G |
7: 80,028,524 (GRCm39) |
|
probably null |
Het |
| Gmeb1 |
C |
A |
4: 131,953,085 (GRCm39) |
L560F |
probably damaging |
Het |
| Hace1 |
T |
C |
10: 45,546,722 (GRCm39) |
L452P |
probably damaging |
Het |
| Hecw2 |
T |
A |
1: 53,943,502 (GRCm39) |
H975L |
probably damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,162,370 (GRCm39) |
C338S |
probably damaging |
Het |
| Iqcn |
T |
C |
8: 71,169,921 (GRCm39) |
I1337T |
probably benign |
Het |
| Kcnb1 |
T |
C |
2: 167,030,204 (GRCm39) |
S114G |
probably damaging |
Het |
| Lce1c |
A |
T |
3: 92,587,623 (GRCm39) |
T17S |
unknown |
Het |
| Lhfpl4 |
C |
A |
6: 113,153,627 (GRCm39) |
L141F |
possibly damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,279,594 (GRCm39) |
E988G |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Neurod1 |
T |
A |
2: 79,285,290 (GRCm39) |
D31V |
probably benign |
Het |
| Neurod4 |
A |
G |
10: 130,106,927 (GRCm39) |
C116R |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,928,537 (GRCm39) |
V28A |
probably benign |
Het |
| Odad1 |
A |
C |
7: 45,592,189 (GRCm39) |
Q323P |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,449 (GRCm39) |
V207A |
probably benign |
Het |
| Or5d44 |
T |
G |
2: 88,141,772 (GRCm39) |
M123L |
probably benign |
Het |
| Pabpc4l |
T |
A |
3: 46,401,024 (GRCm39) |
R207W |
probably damaging |
Het |
| Pabpc4l |
A |
T |
3: 46,400,687 (GRCm39) |
I319N |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,762,568 (GRCm39) |
D1371N |
probably damaging |
Het |
| Peg10 |
G |
GGTC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,706,867 (GRCm39) |
A557T |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,466,602 (GRCm39) |
V58D |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,046,959 (GRCm39) |
V259A |
probably benign |
Het |
| Psmd3 |
A |
T |
11: 98,576,466 (GRCm39) |
T123S |
probably benign |
Het |
| Ptgr2 |
G |
T |
12: 84,339,103 (GRCm39) |
|
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,141 (GRCm39) |
H66R |
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,233,401 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
T |
A |
10: 74,865,628 (GRCm39) |
E70V |
possibly damaging |
Het |
| Slc24a5 |
G |
A |
2: 124,930,111 (GRCm39) |
V471I |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,988,515 (GRCm39) |
T862S |
probably benign |
Het |
| Ssbp2 |
T |
A |
13: 91,839,002 (GRCm39) |
D291E |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,023,197 (GRCm39) |
K329E |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,014,155 (GRCm39) |
K3115N |
probably damaging |
Het |
| Tars1 |
A |
T |
15: 11,392,095 (GRCm39) |
L239* |
probably null |
Het |
| Tbxa2r |
T |
C |
10: 81,168,625 (GRCm39) |
Y105H |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,445,743 (GRCm39) |
D265E |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,795,266 (GRCm39) |
D652G |
possibly damaging |
Het |
| Tsga10 |
T |
C |
1: 37,873,268 (GRCm39) |
R204G |
probably null |
Het |
| Twnk |
A |
G |
19: 45,000,219 (GRCm39) |
D645G |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,217,122 (GRCm39) |
D1118V |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,238,071 (GRCm39) |
I83T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,685,574 (GRCm39) |
W2233R |
possibly damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,416 (GRCm39) |
T185S |
possibly damaging |
Het |
| Vmn2r111 |
G |
T |
17: 22,790,067 (GRCm39) |
T313K |
possibly damaging |
Het |
| Wdr4 |
A |
G |
17: 31,728,806 (GRCm39) |
L123S |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,386 (GRCm39) |
E957G |
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 |
|
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 |
|
|
|
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'- TGTTGGAGCTGTGGAAACAG -3'
(R):5'- AGGATGTCCTCTGGTCTTTATACTC -3'
Sequencing Primer
(F):5'- AACAGGGTGAAGCTGTCTGTC -3'
(R):5'- CTCATATGTGTATGCTTGAACCTAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation