Incidental Mutation 'R8301:Ak9'
| ID |
639270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
LOC215946, Akd1, Gm7127, Akd2 |
| MMRRC Submission |
067789-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R8301 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41303980-41434534 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41424716 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1108
(V1108I)
|
| 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: V1108I
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 87,972,505 |
I374F |
probably benign |
Het |
| Aldh16a1 |
C |
T |
7: 45,141,982 |
A790T |
possibly damaging |
Het |
| Anks1 |
A |
T |
17: 28,059,580 |
|
probably benign |
Het |
| Antxr2 |
T |
G |
5: 97,977,679 |
T240P |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,179,833 |
M945K |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,879,659 |
T1591A |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,356,930 |
S374P |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,719,204 |
S236P |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,073,441 |
|
probably benign |
Het |
| Calm1 |
A |
G |
12: 100,205,685 |
E132G |
probably benign |
Het |
| Casz1 |
A |
G |
4: 148,946,043 |
D1173G |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,795,659 |
D413G |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,593,074 |
I617T |
possibly damaging |
Het |
| Creb5 |
A |
G |
6: 53,681,033 |
D116G |
possibly damaging |
Het |
| Csnka2ip |
A |
C |
16: 64,478,991 |
S337A |
unknown |
Het |
| Ddx60 |
A |
G |
8: 62,000,597 |
E1250G |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,823,577 |
S727T |
probably benign |
Het |
| Dpy19l1 |
T |
C |
9: 24,485,111 |
|
probably benign |
Het |
| Ebf2 |
A |
G |
14: 67,238,982 |
T134A |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,172,909 |
M136L |
probably benign |
Het |
| Enpp2 |
A |
G |
15: 54,851,407 |
F598S |
probably benign |
Het |
| Extl3 |
A |
C |
14: 65,076,284 |
L483R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 79,035,889 |
V227A |
possibly damaging |
Het |
| Hsf2 |
A |
G |
10: 57,505,346 |
D344G |
probably damaging |
Het |
| Ighm |
C |
T |
12: 113,421,545 |
G265D |
|
Het |
| Igsf9b |
T |
G |
9: 27,334,739 |
|
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,702,453 |
V596A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,246,120 |
E182G |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,682,151 |
|
probably null |
Het |
| Kalrn |
G |
T |
16: 34,357,100 |
Q250K |
probably benign |
Het |
| Lrrc1 |
T |
A |
9: 77,544,488 |
N46Y |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,697,971 |
V70L |
probably benign |
Het |
| Naa50 |
A |
G |
16: 44,157,131 |
N74S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,288,835 |
N1303S |
probably benign |
Het |
| Nfs1 |
A |
T |
2: 156,134,493 |
C160* |
probably null |
Het |
| Olfr472 |
A |
G |
7: 107,903,626 |
K303R |
probably benign |
Het |
| Olfr591 |
T |
G |
7: 103,173,073 |
K188T |
probably damaging |
Het |
| Olfr740 |
T |
A |
14: 50,453,564 |
S171T |
probably benign |
Het |
| Olfr809 |
T |
C |
10: 129,776,840 |
S309P |
probably benign |
Het |
| Orm2 |
T |
C |
4: 63,363,026 |
F67S |
possibly damaging |
Het |
| Pex5 |
A |
G |
6: 124,405,183 |
S180P |
probably benign |
Het |
| Phf14 |
G |
C |
6: 11,992,062 |
G746R |
probably damaging |
Het |
| Pkm |
T |
A |
9: 59,668,631 |
V110E |
probably damaging |
Het |
| Plekha6 |
T |
G |
1: 133,264,687 |
N78K |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,790,175 |
V1076I |
probably benign |
Het |
| Polq |
C |
A |
16: 37,061,819 |
D1448E |
probably damaging |
Het |
| Pot1b |
T |
C |
17: 55,687,895 |
T256A |
probably benign |
Het |
| Prkch |
C |
T |
12: 73,702,764 |
T377I |
possibly damaging |
Het |
| Prl3c1 |
A |
C |
13: 27,199,185 |
|
probably benign |
Het |
| Prl7b1 |
A |
C |
13: 27,602,772 |
V158G |
possibly damaging |
Het |
| Prss22 |
T |
C |
17: 23,993,981 |
S261G |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,321,102 |
|
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,353,377 |
Y119N |
probably damaging |
Het |
| Rbm6 |
T |
G |
9: 107,852,794 |
R218S |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,434,742 |
S1491T |
|
Het |
| Rsf1 |
T |
C |
7: 97,661,925 |
S621P |
|
Het |
| Runx1 |
C |
A |
16: 92,605,656 |
*466L |
probably null |
Het |
| Samd4 |
A |
G |
14: 47,016,678 |
I200V |
probably benign |
Het |
| Sdsl |
C |
T |
5: 120,459,519 |
C241Y |
probably benign |
Het |
| Selenon |
T |
C |
4: 134,551,414 |
|
probably benign |
Het |
| Setx |
C |
T |
2: 29,145,690 |
P729L |
possibly damaging |
Het |
| Sf1 |
C |
T |
19: 6,368,366 |
Q55* |
probably null |
Het |
| Slc12a5 |
A |
T |
2: 164,993,691 |
N833I |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,332,286 |
R63G |
probably damaging |
Het |
| Tmeff2 |
G |
T |
1: 51,181,837 |
A324S |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,526,492 |
I88T |
possibly damaging |
Het |
| Tnfsf8 |
A |
T |
4: 63,860,878 |
I61N |
probably benign |
Het |
| Tpbgl |
G |
T |
7: 99,625,567 |
A361E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,487,006 |
E667V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,263,568 |
T1598A |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,858,302 |
C601S |
probably benign |
Het |
| Zfp873 |
C |
A |
10: 82,060,879 |
H481Q |
probably damaging |
Het |
|
| Other mutations in Ak9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Mean
|
UTSW |
10 |
41,357,563 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
BB006:Ak9
|
UTSW |
10 |
41,383,948 (GRCm38) |
missense |
|
|
|
BB016:Ak9
|
UTSW |
10 |
41,383,948 (GRCm38) |
missense |
|
|
|
R0057:Ak9
|
UTSW |
10 |
41,392,728 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0605:Ak9
|
UTSW |
10 |
41,345,139 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0658:Ak9
|
UTSW |
10 |
41,347,222 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1696:Ak9
|
UTSW |
10 |
41,327,589 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1738:Ak9
|
UTSW |
10 |
41,335,921 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1815:Ak9
|
UTSW |
10 |
41,337,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2900:Ak9
|
UTSW |
10 |
41,424,755 (GRCm38) |
missense |
unknown |
|
|
R3123:Ak9
|
UTSW |
10 |
41,358,580 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3715:Ak9
|
UTSW |
10 |
41,357,512 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4092:Ak9
|
UTSW |
10 |
41,389,144 (GRCm38) |
missense |
probably benign |
0.29 |
|
R4193:Ak9
|
UTSW |
10 |
41,335,945 (GRCm38) |
missense |
probably benign |
0.14 |
|
R4598:Ak9
|
UTSW |
10 |
41,383,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4621:Ak9
|
UTSW |
10 |
41,406,891 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R4681:Ak9
|
UTSW |
10 |
41,427,238 (GRCm38) |
missense |
unknown |
|
|
R4707:Ak9
|
UTSW |
10 |
41,345,460 (GRCm38) |
missense |
probably benign |
0.36 |
|
R4908:Ak9
|
UTSW |
10 |
41,420,682 (GRCm38) |
missense |
unknown |
|
|
R4952:Ak9
|
UTSW |
10 |
41,420,589 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5162:Ak9
|
UTSW |
10 |
41,357,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5446:Ak9
|
UTSW |
10 |
41,420,509 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5494:Ak9
|
UTSW |
10 |
41,347,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5517:Ak9
|
UTSW |
10 |
41,340,891 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5849:Ak9
|
UTSW |
10 |
41,348,049 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5858:Ak9
|
UTSW |
10 |
41,423,027 (GRCm38) |
missense |
unknown |
|
|
R5920:Ak9
|
UTSW |
10 |
41,420,676 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5952:Ak9
|
UTSW |
10 |
41,357,563 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R5955:Ak9
|
UTSW |
10 |
41,358,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6050:Ak9
|
UTSW |
10 |
41,389,112 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R6087:Ak9
|
UTSW |
10 |
41,382,832 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6190:Ak9
|
UTSW |
10 |
41,422,408 (GRCm38) |
missense |
unknown |
|
|
R6190:Ak9
|
UTSW |
10 |
41,422,407 (GRCm38) |
missense |
unknown |
|
|
R6197:Ak9
|
UTSW |
10 |
41,317,830 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6220:Ak9
|
UTSW |
10 |
41,370,099 (GRCm38) |
missense |
unknown |
|
|
R6250:Ak9
|
UTSW |
10 |
41,389,034 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R6315:Ak9
|
UTSW |
10 |
41,406,841 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6331:Ak9
|
UTSW |
10 |
41,382,829 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6812:Ak9
|
UTSW |
10 |
41,367,167 (GRCm38) |
missense |
unknown |
|
|
R6847:Ak9
|
UTSW |
10 |
41,357,801 (GRCm38) |
splice site |
probably null |
|
|
R7128:Ak9
|
UTSW |
10 |
41,424,717 (GRCm38) |
missense |
unknown |
|
|
R7253:Ak9
|
UTSW |
10 |
41,432,484 (GRCm38) |
missense |
unknown |
|
|
R7286:Ak9
|
UTSW |
10 |
41,407,371 (GRCm38) |
missense |
|
|
|
R7401:Ak9
|
UTSW |
10 |
41,423,004 (GRCm38) |
missense |
unknown |
|
|
R7478:Ak9
|
UTSW |
10 |
41,389,091 (GRCm38) |
missense |
|
|
|
R7698:Ak9
|
UTSW |
10 |
41,348,076 (GRCm38) |
missense |
|
|
|
R7758:Ak9
|
UTSW |
10 |
41,347,132 (GRCm38) |
missense |
|
|
|
R7806:Ak9
|
UTSW |
10 |
41,433,084 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7894:Ak9
|
UTSW |
10 |
41,420,539 (GRCm38) |
missense |
unknown |
|
|
R7929:Ak9
|
UTSW |
10 |
41,383,948 (GRCm38) |
missense |
|
|
|
R7941:Ak9
|
UTSW |
10 |
41,409,137 (GRCm38) |
missense |
unknown |
|
|
R8032:Ak9
|
UTSW |
10 |
41,424,620 (GRCm38) |
missense |
unknown |
|
|
R8143:Ak9
|
UTSW |
10 |
41,337,592 (GRCm38) |
nonsense |
probably null |
|
|
R8298:Ak9
|
UTSW |
10 |
41,389,058 (GRCm38) |
missense |
|
|
|
R8355:Ak9
|
UTSW |
10 |
41,399,704 (GRCm38) |
missense |
|
|
|
R8703:Ak9
|
UTSW |
10 |
41,325,124 (GRCm38) |
missense |
|
|
|
R8728:Ak9
|
UTSW |
10 |
41,406,963 (GRCm38) |
missense |
|
|
|
R8757:Ak9
|
UTSW |
10 |
41,423,040 (GRCm38) |
missense |
unknown |
|
|
R8798:Ak9
|
UTSW |
10 |
41,382,851 (GRCm38) |
missense |
|
|
|
R8868:Ak9
|
UTSW |
10 |
41,382,873 (GRCm38) |
nonsense |
probably null |
|
|
R8868:Ak9
|
UTSW |
10 |
41,317,846 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9088:Ak9
|
UTSW |
10 |
41,406,874 (GRCm38) |
missense |
|
|
|
R9090:Ak9
|
UTSW |
10 |
41,424,627 (GRCm38) |
missense |
unknown |
|
|
R9165:Ak9
|
UTSW |
10 |
41,433,239 (GRCm38) |
missense |
unknown |
|
|
R9195:Ak9
|
UTSW |
10 |
41,407,483 (GRCm38) |
missense |
|
|
|
R9271:Ak9
|
UTSW |
10 |
41,424,627 (GRCm38) |
missense |
unknown |
|
|
R9297:Ak9
|
UTSW |
10 |
41,423,085 (GRCm38) |
missense |
unknown |
|
|
R9302:Ak9
|
UTSW |
10 |
41,320,490 (GRCm38) |
missense |
|
|
|
R9309:Ak9
|
UTSW |
10 |
41,316,368 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9318:Ak9
|
UTSW |
10 |
41,423,085 (GRCm38) |
missense |
unknown |
|
|
R9393:Ak9
|
UTSW |
10 |
41,409,072 (GRCm38) |
missense |
unknown |
|
|
R9541:Ak9
|
UTSW |
10 |
41,367,177 (GRCm38) |
missense |
|
|
|
R9579:Ak9
|
UTSW |
10 |
41,337,580 (GRCm38) |
missense |
|
|
|
R9618:Ak9
|
UTSW |
10 |
41,327,631 (GRCm38) |
missense |
|
|
|
R9697:Ak9
|
UTSW |
10 |
41,422,972 (GRCm38) |
nonsense |
probably null |
|
|
R9753:Ak9
|
UTSW |
10 |
41,383,500 (GRCm38) |
missense |
|
|
|
Z1176:Ak9
|
UTSW |
10 |
41,423,023 (GRCm38) |
missense |
unknown |
|
|
Z1176:Ak9
|
UTSW |
10 |
41,348,251 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
|
| Posted On |
2020-07-28 |
Incidental Mutation