Incidental Mutation 'R9088:Ak9'
| ID |
690769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9088 (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 G
at 41282870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1212
(Y1212C)
|
| 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: Y1212C
| 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: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah2 |
T |
C |
19: 32,030,360 (GRCm39) |
Q104R |
probably damaging |
Het |
| Bnipl |
T |
A |
3: 95,158,295 (GRCm39) |
R9* |
probably null |
Het |
| Bpifa3 |
A |
C |
2: 153,975,685 (GRCm39) |
N85T |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,792,956 (GRCm39) |
Y354H |
probably damaging |
Het |
| Caln1 |
A |
T |
5: 130,443,617 (GRCm39) |
|
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,321,451 (GRCm39) |
F378L |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,281,806 (GRCm39) |
H125R |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,394,882 (GRCm39) |
E258K |
probably damaging |
Het |
| Cep295 |
C |
A |
9: 15,233,815 (GRCm39) |
R2327L |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,226,923 (GRCm39) |
D224E |
unknown |
Het |
| Col16a1 |
T |
A |
4: 129,971,016 (GRCm39) |
S938T |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,493,227 (GRCm39) |
E1340G |
possibly damaging |
Het |
| Col6a6 |
C |
T |
9: 105,661,276 (GRCm39) |
V278M |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,799,890 (GRCm39) |
L41Q |
probably damaging |
Het |
| Ctss |
A |
T |
3: 95,436,867 (GRCm39) |
D50V |
possibly damaging |
Het |
| Ddx56 |
C |
T |
11: 6,209,612 (GRCm39) |
A500T |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,718,418 (GRCm39) |
V1713A |
unknown |
Het |
| Dnah1 |
T |
C |
14: 30,987,970 (GRCm39) |
I3483V |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,737,594 (GRCm39) |
F402I |
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,768,424 (GRCm39) |
H754Q |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,772,890 (GRCm39) |
Y576H |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,061,448 (GRCm39) |
S4344P |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,790,150 (GRCm39) |
I320T |
|
Het |
| Fbxw22 |
C |
T |
9: 109,207,952 (GRCm39) |
D440N |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,583,913 (GRCm39) |
E109G |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,240,766 (GRCm39) |
D214V |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,006,995 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,762 (GRCm39) |
K69E |
unknown |
Het |
| Lrrc8e |
G |
A |
8: 4,284,410 (GRCm39) |
V212M |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,453,773 (GRCm39) |
S888C |
probably damaging |
Het |
| Met |
G |
T |
6: 17,548,715 (GRCm39) |
G920* |
probably null |
Het |
| Mlkl |
G |
T |
8: 112,049,365 (GRCm39) |
R253S |
|
Het |
| Mmachc |
T |
A |
4: 116,561,829 (GRCm39) |
I102F |
probably damaging |
Het |
| Mnt |
G |
T |
11: 74,733,880 (GRCm39) |
V504L |
unknown |
Het |
| Mup14 |
C |
T |
4: 61,258,496 (GRCm39) |
G96D |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,242,885 (GRCm39) |
E933K |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,249,726 (GRCm39) |
S1193P |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,931,314 (GRCm38) |
I762T |
probably damaging |
Het |
| Nmur1 |
G |
T |
1: 86,315,252 (GRCm39) |
F204L |
probably benign |
Het |
| Or1ak2 |
A |
G |
2: 36,827,988 (GRCm39) |
N286D |
probably damaging |
Het |
| Or52e15 |
G |
T |
7: 104,645,301 (GRCm39) |
P270Q |
probably damaging |
Het |
| Or8a1 |
T |
A |
9: 37,641,806 (GRCm39) |
I158F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,763,927 (GRCm39) |
Y528C |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,920,289 (GRCm39) |
S748P |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,908,767 (GRCm39) |
T531A |
probably benign |
Het |
| Slit3 |
C |
T |
11: 35,012,463 (GRCm39) |
S41F |
possibly damaging |
Het |
| Snap29 |
A |
G |
16: 17,246,058 (GRCm39) |
Q226R |
probably damaging |
Het |
| Spmip2 |
G |
A |
3: 79,337,429 (GRCm39) |
G185D |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,989,138 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,607 (GRCm39) |
G73E |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,552,617 (GRCm39) |
C119S |
possibly damaging |
Het |
| Uox |
A |
G |
3: 146,330,369 (GRCm39) |
Y199C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,187,708 (GRCm39) |
D231G |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,005,378 (GRCm39) |
K338N |
probably benign |
Het |
| Xylt2 |
G |
A |
11: 94,561,229 (GRCm39) |
T178I |
probably benign |
Het |
| Zfp931 |
G |
T |
2: 177,709,594 (GRCm39) |
T264K |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,377,326 (GRCm39) |
D857G |
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 |
|
|
|
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 |
|
|
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'- AAGCATCATCGGTTCAGTTCC -3'
(R):5'- TCTTTGCATGCCCAAGTTGC -3'
Sequencing Primer
(F):5'- GCATCATCGGTTCAGTTCCTTAAAGG -3'
(R):5'- GCATGCCCAAGTTGCTATTCTTTAAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation