Incidental Mutation 'R8798:Ak9'
| ID |
671390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
068724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41179433-41309565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41258847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 781
(D781E)
|
| 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: D781E
| 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 |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
G |
A |
8: 79,937,380 (GRCm39) |
R176* |
probably null |
Het |
| 4921539E11Rik |
A |
C |
4: 103,123,574 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,797,105 (GRCm39) |
N492S |
probably benign |
Het |
| Acox1 |
T |
C |
11: 116,065,183 (GRCm39) |
Y624C |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,291,335 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,522,799 (GRCm39) |
D409G |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,414,645 (GRCm39) |
Y8N |
probably benign |
Het |
| Blnk |
A |
G |
19: 40,950,795 (GRCm39) |
Y119H |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,541,601 (GRCm39) |
L310P |
probably damaging |
Het |
| Cgas |
G |
A |
9: 78,350,348 (GRCm39) |
R5C |
probably benign |
Het |
| Cit |
T |
A |
5: 116,107,102 (GRCm39) |
L1078Q |
probably damaging |
Het |
| Cpn1 |
A |
T |
19: 43,974,675 (GRCm39) |
V18D |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,595,382 (GRCm39) |
Y1115N |
|
Het |
| Dnah9 |
A |
C |
11: 65,796,057 (GRCm39) |
V3589G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,506,037 (GRCm39) |
Y454C |
probably damaging |
Het |
| Eif3i |
A |
G |
4: 129,490,717 (GRCm39) |
V67A |
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,664,886 (GRCm39) |
N200S |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,051,605 (GRCm39) |
H502R |
possibly damaging |
Het |
| Fcer1a |
A |
G |
1: 173,053,047 (GRCm39) |
Y50H |
probably benign |
Het |
| Filip1 |
G |
A |
9: 79,727,372 (GRCm39) |
H416Y |
possibly damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,424 (GRCm39) |
N1415I |
possibly damaging |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,725 (GRCm39) |
P252L |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,476,248 (GRCm39) |
|
probably null |
Het |
| Hgs |
T |
C |
11: 120,370,938 (GRCm39) |
V598A |
probably benign |
Het |
| Irf2 |
G |
T |
8: 47,260,349 (GRCm39) |
V94L |
probably benign |
Het |
| Kalrn |
G |
T |
16: 33,803,225 (GRCm39) |
H2675Q |
possibly damaging |
Het |
| Klhl33 |
C |
A |
14: 51,130,565 (GRCm39) |
A50S |
possibly damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,645,372 (GRCm39) |
I15T |
probably benign |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lrrn3 |
A |
G |
12: 41,503,174 (GRCm39) |
M381T |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,284,258 (GRCm39) |
Y395H |
probably benign |
Het |
| Ltf |
A |
G |
9: 110,852,828 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,154,270 (GRCm39) |
F1059S |
probably benign |
Het |
| Lypd6 |
T |
A |
2: 50,078,774 (GRCm39) |
I90N |
possibly damaging |
Het |
| Map1a |
G |
A |
2: 121,132,768 (GRCm39) |
V1195M |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,978,191 (GRCm39) |
I1320F |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,569 (GRCm39) |
T1324A |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,719,772 (GRCm39) |
V562M |
possibly damaging |
Het |
| Myo15b |
G |
A |
11: 115,754,232 (GRCm39) |
G911R |
|
Het |
| Neo1 |
A |
G |
9: 58,820,449 (GRCm39) |
Y825H |
probably damaging |
Het |
| Nfat5 |
T |
G |
8: 108,074,321 (GRCm39) |
V343G |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,887 (GRCm39) |
I503K |
possibly damaging |
Het |
| Or10d5 |
G |
A |
9: 39,862,013 (GRCm39) |
T18I |
probably benign |
Het |
| Or13d1 |
C |
A |
4: 52,970,790 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,307 (GRCm39) |
D232E |
probably benign |
Het |
| Or8d2 |
G |
A |
9: 38,760,213 (GRCm39) |
E268K |
probably benign |
Het |
| Pdcl2 |
T |
C |
5: 76,472,947 (GRCm39) |
D7G |
probably damaging |
Het |
| Phyh |
C |
T |
2: 4,923,893 (GRCm39) |
R5C |
probably damaging |
Het |
| Prr11 |
A |
C |
11: 86,996,881 (GRCm39) |
S28A |
unknown |
Het |
| Psmd13 |
T |
A |
7: 140,477,663 (GRCm39) |
L190* |
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,343,716 (GRCm39) |
D322G |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,954 (GRCm39) |
L109P |
probably damaging |
Het |
| Rrp1 |
T |
C |
10: 78,245,024 (GRCm39) |
T102A |
probably damaging |
Het |
| Sema4a |
T |
G |
3: 88,344,004 (GRCm39) |
D749A |
possibly damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,702 (GRCm39) |
D188V |
probably benign |
Het |
| Smarca5 |
C |
A |
8: 81,443,137 (GRCm39) |
A570S |
probably damaging |
Het |
| Spocd1 |
G |
C |
4: 129,823,997 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,535,212 (GRCm39) |
G3823D |
probably benign |
Het |
| Suco |
A |
G |
1: 161,648,004 (GRCm39) |
L1094S |
probably damaging |
Het |
| Tcf7 |
T |
C |
11: 52,151,421 (GRCm39) |
D79G |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,228,605 (GRCm39) |
M39T |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,209 (GRCm39) |
N321S |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,437,217 (GRCm39) |
Y235* |
probably null |
Het |
| Tnfaip6 |
T |
C |
2: 51,933,824 (GRCm39) |
F60L |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,572,620 (GRCm39) |
I411V |
probably benign |
Het |
| Trio |
A |
C |
15: 27,851,923 (GRCm39) |
V856G |
possibly damaging |
Het |
| Trpc2 |
C |
G |
7: 101,733,767 (GRCm39) |
R239G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,656,476 (GRCm39) |
V12502I |
unknown |
Het |
| Usf3 |
A |
G |
16: 44,040,536 (GRCm39) |
D1672G |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,236,436 (GRCm39) |
N1011S |
probably benign |
Het |
| Vac14 |
A |
G |
8: 111,446,519 (GRCm39) |
E756G |
probably benign |
Het |
| Vmn2r41 |
A |
G |
7: 8,164,522 (GRCm39) |
L10P |
probably damaging |
Het |
| Xrcc5 |
T |
C |
1: 72,353,337 (GRCm39) |
M115T |
probably damaging |
Het |
| Zfp1006 |
G |
A |
8: 129,945,779 (GRCm39) |
H349Y |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,463 (GRCm39) |
|
probably benign |
Het |
| Zmym1 |
A |
T |
4: 126,943,664 (GRCm39) |
N241K |
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 |
|
|
|
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 |
|
|
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'- GACTGGCTACATCGAGACTG -3'
(R):5'- CTGATGAGTGAAATTCGTATGGAAGC -3'
Sequencing Primer
(F):5'- GGCTACATCGAGACTGTCTTTCTG -3'
(R):5'- CAGATGAAACAGTTAAAACAGTGTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation