Incidental Mutation 'R8143:Ak9'
ID |
632647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ak9
|
Ensembl Gene |
ENSMUSG00000091415 |
Gene Name |
adenylate kinase 9 |
Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
MMRRC Submission |
067571-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R8143 (G1)
|
Quality Score |
168.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41179433-41309565 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 41213588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 264
(Y264*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
AlphaFold |
G3UYQ4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000173494
AA Change: Y264*
|
SMART Domains |
Protein: ENSMUSP00000134177 Gene: ENSMUSG00000091415 AA Change: Y264*
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: 99.7%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 85.9%
|
Validation Efficiency |
100% (65/65) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
C |
A |
2: 35,265,884 (GRCm39) |
C262F |
probably damaging |
Het |
Acss1 |
T |
C |
2: 150,509,801 (GRCm39) |
|
probably null |
Het |
Adamtsl1 |
T |
C |
4: 86,260,492 (GRCm39) |
V909A |
possibly damaging |
Het |
Adprh |
G |
A |
16: 38,270,694 (GRCm39) |
T37M |
probably benign |
Het |
Aox3 |
G |
T |
1: 58,198,074 (GRCm39) |
A629S |
probably benign |
Het |
Apcs |
G |
A |
1: 172,721,900 (GRCm39) |
P149S |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,377,294 (GRCm39) |
|
probably null |
Het |
Asb13 |
G |
A |
13: 3,692,065 (GRCm39) |
G15D |
probably damaging |
Het |
Bltp1 |
T |
G |
3: 37,000,657 (GRCm39) |
|
probably null |
Het |
Cacnb1 |
T |
G |
11: 97,894,146 (GRCm39) |
T459P |
probably benign |
Het |
Chrnb2 |
T |
C |
3: 89,654,630 (GRCm39) |
T718A |
unknown |
Het |
Cttn |
T |
A |
7: 144,014,999 (GRCm39) |
K70* |
probably null |
Het |
Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
Cyp39a1 |
T |
C |
17: 44,036,517 (GRCm39) |
V349A |
probably benign |
Het |
Ebf2 |
C |
A |
14: 67,649,386 (GRCm39) |
Y430* |
probably null |
Het |
Eef2 |
T |
C |
10: 81,017,182 (GRCm39) |
Y730H |
probably damaging |
Het |
Eif2ak2 |
G |
A |
17: 79,165,961 (GRCm39) |
T412I |
probably benign |
Het |
Flnc |
G |
C |
6: 29,441,484 (GRCm39) |
R422P |
probably benign |
Het |
Fryl |
G |
A |
5: 73,207,682 (GRCm39) |
A2496V |
probably benign |
Het |
Galnt6 |
A |
G |
15: 100,614,088 (GRCm39) |
L71P |
probably damaging |
Het |
Gm7579 |
C |
T |
7: 141,766,163 (GRCm39) |
Q190* |
probably null |
Het |
H2-T3 |
T |
A |
17: 36,498,384 (GRCm39) |
R220S |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,734,957 (GRCm39) |
V185A |
probably benign |
Het |
Ifi208 |
T |
A |
1: 173,510,242 (GRCm39) |
D132E |
possibly damaging |
Het |
Itgb4 |
G |
A |
11: 115,884,255 (GRCm39) |
V981I |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,683,003 (GRCm39) |
T310A |
unknown |
Het |
Kat5 |
A |
G |
19: 5,657,577 (GRCm39) |
|
probably null |
Het |
Kif22 |
A |
T |
7: 126,632,397 (GRCm39) |
D304E |
probably damaging |
Het |
Mapre3 |
A |
T |
5: 31,020,719 (GRCm39) |
N147Y |
possibly damaging |
Het |
Morc2a |
T |
C |
11: 3,628,537 (GRCm39) |
V330A |
probably benign |
Het |
Mylk |
G |
A |
16: 34,734,525 (GRCm39) |
V709M |
possibly damaging |
Het |
Myo3a |
T |
G |
2: 22,287,476 (GRCm39) |
|
probably null |
Het |
N4bp2l2 |
A |
T |
5: 150,585,670 (GRCm39) |
D103E |
probably benign |
Het |
Nckap1 |
T |
C |
2: 80,336,530 (GRCm39) |
K1062R |
possibly damaging |
Het |
Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
Numa1 |
A |
G |
7: 101,648,891 (GRCm39) |
Q874R |
possibly damaging |
Het |
Olig3 |
T |
G |
10: 19,232,732 (GRCm39) |
V119G |
probably damaging |
Het |
Or7g34 |
A |
G |
9: 19,478,587 (GRCm39) |
V31A |
probably benign |
Het |
Osbpl9 |
A |
G |
4: 108,922,906 (GRCm39) |
S485P |
probably benign |
Het |
Otogl |
A |
G |
10: 107,642,527 (GRCm39) |
F1301S |
probably damaging |
Het |
Pank3 |
A |
G |
11: 35,667,036 (GRCm39) |
Y51C |
probably damaging |
Het |
Pex5l |
T |
C |
3: 33,136,658 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
G |
A |
4: 99,824,415 (GRCm39) |
|
probably null |
Het |
Psmd9 |
T |
G |
5: 123,366,479 (GRCm39) |
I37S |
probably damaging |
Het |
Qtrt2 |
A |
G |
16: 43,692,117 (GRCm39) |
S135P |
probably damaging |
Het |
Rexo5 |
T |
A |
7: 119,433,484 (GRCm39) |
|
probably null |
Het |
Rsrp1 |
T |
A |
4: 134,654,319 (GRCm39) |
D286E |
probably benign |
Het |
Scara3 |
C |
T |
14: 66,169,269 (GRCm39) |
C116Y |
probably damaging |
Het |
Serpina3b |
A |
T |
12: 104,096,793 (GRCm39) |
T25S |
probably benign |
Het |
Sh3pxd2a |
G |
A |
19: 47,257,138 (GRCm39) |
P555S |
probably damaging |
Het |
Slc1a2 |
T |
A |
2: 102,568,230 (GRCm39) |
L89Q |
probably damaging |
Het |
Tgm6 |
T |
A |
2: 129,983,763 (GRCm39) |
N307K |
probably damaging |
Het |
Tmem86b |
G |
T |
7: 4,631,484 (GRCm39) |
D189E |
probably damaging |
Het |
Trim65 |
G |
A |
11: 116,017,287 (GRCm39) |
R392C |
probably benign |
Het |
Trpc7 |
T |
C |
13: 56,930,362 (GRCm39) |
T769A |
probably benign |
Het |
Trrap |
T |
A |
5: 144,772,707 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,693,677 (GRCm39) |
E397G |
possibly damaging |
Het |
Vcl |
A |
T |
14: 21,037,112 (GRCm39) |
M237L |
possibly damaging |
Het |
Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
Vmn2r23 |
A |
T |
6: 123,718,312 (GRCm39) |
D555V |
probably damaging |
Het |
Wnk4 |
A |
G |
11: 101,153,625 (GRCm39) |
N229S |
probably damaging |
Het |
Zfp784 |
A |
C |
7: 5,038,910 (GRCm39) |
V216G |
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 |
|
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'- AGTTCCCAGCACCTTAAATGC -3'
(R):5'- TGCAACACGGAAGTTTAAAGTG -3'
Sequencing Primer
(F):5'- CCTTAAATGCATGGCCCTGGTAG -3'
(R):5'- GTTGAAACAGAAGTTCACGGTAATAC -3'
|
Posted On |
2020-06-30 |