Incidental Mutation 'R4621:Ak9'
| ID |
346162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
041886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R4621 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41179433-41309565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41282887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1218
(N1218D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173494
AA Change: N1218D
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: N1218D
| 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: ENSMUST00000183534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214384
|
| Meta Mutation Damage Score |
0.0674 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (90/90) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
C |
7: 78,975,235 (GRCm39) |
Y142H |
probably damaging |
Het |
| Abra |
C |
T |
15: 41,732,620 (GRCm39) |
D149N |
probably benign |
Het |
| Acin1 |
A |
T |
14: 54,890,900 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
T |
A |
11: 80,064,899 (GRCm39) |
|
probably null |
Het |
| Afdn |
A |
G |
17: 14,109,082 (GRCm39) |
E1535G |
probably damaging |
Het |
| Ajm1 |
G |
A |
2: 25,468,412 (GRCm39) |
P500S |
probably damaging |
Het |
| Angptl1 |
G |
A |
1: 156,672,494 (GRCm39) |
V107M |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,032,894 (GRCm39) |
|
probably benign |
Het |
| Cage1 |
A |
C |
13: 38,209,477 (GRCm39) |
S61A |
possibly damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,824,004 (GRCm39) |
T163A |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,302,532 (GRCm39) |
V2568D |
possibly damaging |
Het |
| Cep44 |
G |
A |
8: 56,995,951 (GRCm39) |
T166M |
probably damaging |
Het |
| Cnksr3 |
T |
C |
10: 7,076,182 (GRCm39) |
K187E |
possibly damaging |
Het |
| Cyp20a1 |
A |
G |
1: 60,415,258 (GRCm39) |
T295A |
probably benign |
Het |
| Dus2 |
T |
A |
8: 106,757,074 (GRCm39) |
M88K |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,070 (GRCm39) |
|
probably benign |
Het |
| Ecrg4 |
G |
A |
1: 43,776,412 (GRCm39) |
|
probably null |
Het |
| Efna5 |
T |
C |
17: 62,958,040 (GRCm39) |
D72G |
probably benign |
Het |
| Epb41l2 |
T |
C |
10: 25,378,038 (GRCm39) |
|
probably null |
Het |
| Espn |
A |
G |
4: 152,215,709 (GRCm39) |
S408P |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,252,909 (GRCm39) |
|
probably benign |
Het |
| F830016B08Rik |
G |
A |
18: 60,433,939 (GRCm39) |
V341I |
probably benign |
Het |
| Flii |
A |
G |
11: 60,606,937 (GRCm39) |
L1013P |
possibly damaging |
Het |
| Fndc10 |
G |
A |
4: 155,779,264 (GRCm39) |
V103M |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,820 (GRCm39) |
|
probably null |
Het |
| Gltp |
C |
T |
5: 114,812,188 (GRCm39) |
R106Q |
probably damaging |
Het |
| Gtf3c3 |
A |
G |
1: 54,458,575 (GRCm39) |
Y449H |
probably damaging |
Het |
| H1f9 |
G |
A |
11: 94,858,986 (GRCm39) |
V94M |
probably damaging |
Het |
| Hmga1b |
T |
C |
11: 120,653,866 (GRCm39) |
V51A |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
| Igkv13-84 |
T |
C |
6: 68,916,783 (GRCm39) |
S27P |
possibly damaging |
Het |
| Il15ra |
A |
G |
2: 11,723,140 (GRCm39) |
N55D |
possibly damaging |
Het |
| Kctd19 |
T |
G |
8: 106,123,103 (GRCm39) |
N104H |
probably damaging |
Het |
| Kif27 |
T |
G |
13: 58,478,827 (GRCm39) |
D572A |
probably benign |
Het |
| Larp1b |
G |
A |
3: 40,918,424 (GRCm39) |
G22R |
possibly damaging |
Het |
| Lcn2 |
A |
T |
2: 32,274,655 (GRCm39) |
|
probably benign |
Het |
| Lmtk2 |
T |
A |
5: 144,111,752 (GRCm39) |
I824N |
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,856,122 (GRCm39) |
I707T |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,266,141 (GRCm39) |
|
probably null |
Het |
| Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
| Mcoln1 |
A |
G |
8: 3,555,923 (GRCm39) |
I73V |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mycbp2 |
G |
T |
14: 103,457,415 (GRCm39) |
T1627K |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,177,084 (GRCm39) |
E412G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,778,355 (GRCm39) |
D1370E |
probably benign |
Het |
| Ndufaf5 |
A |
G |
2: 140,025,845 (GRCm39) |
T135A |
probably benign |
Het |
| Neb |
G |
A |
2: 52,161,051 (GRCm39) |
Q2207* |
probably null |
Het |
| Nek3 |
T |
C |
8: 22,647,055 (GRCm39) |
Y160C |
probably damaging |
Het |
| Or2y6 |
G |
C |
11: 52,104,706 (GRCm39) |
L37V |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,469 (GRCm39) |
I201N |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,105,279 (GRCm39) |
I245V |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,125,079 (GRCm39) |
I241V |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,213 (GRCm39) |
Q453R |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,980 (GRCm39) |
T318A |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,319,462 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
C |
T |
6: 23,001,453 (GRCm39) |
A1181V |
possibly damaging |
Het |
| Racgap1 |
C |
A |
15: 99,524,087 (GRCm39) |
S440I |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,326,525 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,631,345 (GRCm39) |
V244A |
probably damaging |
Het |
| Rexo5 |
T |
G |
7: 119,418,722 (GRCm39) |
I254R |
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,782,821 (GRCm39) |
S316T |
probably benign |
Het |
| Satb2 |
A |
T |
1: 56,884,778 (GRCm39) |
V382E |
probably damaging |
Het |
| Scg2 |
C |
T |
1: 79,414,381 (GRCm39) |
R114Q |
probably benign |
Het |
| Scube2 |
T |
C |
7: 109,399,857 (GRCm39) |
D893G |
possibly damaging |
Het |
| Snrpn |
T |
C |
7: 59,637,274 (GRCm39) |
D14G |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,559 (GRCm39) |
T2018A |
probably benign |
Het |
| Spata9 |
T |
G |
13: 76,116,001 (GRCm39) |
F17V |
possibly damaging |
Het |
| Supt6 |
A |
G |
11: 78,103,572 (GRCm39) |
Y1378H |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,358,652 (GRCm39) |
S29P |
possibly damaging |
Het |
| Tmem59 |
A |
T |
4: 107,047,915 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,227,905 (GRCm39) |
S81P |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,029,224 (GRCm39) |
E882D |
possibly damaging |
Het |
| Trbj2-4 |
T |
A |
6: 41,520,308 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,245,201 (GRCm39) |
Y533F |
probably benign |
Het |
| Tssk5 |
C |
T |
15: 76,256,668 (GRCm39) |
R280Q |
probably benign |
Het |
| Vmn1r82 |
A |
G |
7: 12,039,263 (GRCm39) |
T179A |
possibly damaging |
Het |
| Yipf7 |
T |
A |
5: 69,676,704 (GRCm39) |
Q145L |
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 |
|
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 |
|
|
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'- AGCATCATCGGTTCAGTTCC -3'
(R):5'- CTCTTTGCATGCCCAAGTTG -3'
Sequencing Primer
(F):5'- GCATCATCGGTTCAGTTCCTTAAAGG -3'
(R):5'- GCATGCCCAAGTTGCTATTCTTTAAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation