Incidental Mutation 'R1815:Ak9'
| ID |
202646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
039843-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R1815 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41179433-41309565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41213572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 259
(E259G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173494
AA Change: E259G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: E259G
| 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 |
possibly damaging
Transcript: ENSMUST00000173517
AA Change: E259G
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134344
Gene: ENSMUSG00000091415
AA Change: E259G
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
30 |
330 |
4.65e-3 |
SMART |
|
low complexity region
|
378 |
392 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
397 |
436 |
8.49e-5 |
PROSPERO |
|
low complexity region
|
488 |
499 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 90.5%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
A |
G |
1: 171,083,905 (GRCm39) |
T492A |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,548,643 (GRCm39) |
L529* |
probably null |
Het |
| Apol11b |
T |
A |
15: 77,519,772 (GRCm39) |
I103F |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,501,667 (GRCm39) |
M864V |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,324,073 (GRCm39) |
L60P |
probably damaging |
Het |
| Begain |
T |
C |
12: 109,000,033 (GRCm39) |
Y451C |
probably damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,586,124 (GRCm39) |
I46N |
probably benign |
Het |
| Bms1 |
T |
A |
6: 118,360,742 (GRCm39) |
K1242M |
probably damaging |
Het |
| Calcoco1 |
A |
G |
15: 102,622,358 (GRCm39) |
L254P |
probably damaging |
Het |
| Ccdc112 |
A |
T |
18: 46,424,173 (GRCm39) |
N188K |
possibly damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,901,774 (GRCm39) |
V132A |
possibly damaging |
Het |
| Cdo1 |
A |
G |
18: 46,853,369 (GRCm39) |
C130R |
probably damaging |
Het |
| Cep295nl |
G |
T |
11: 118,223,474 (GRCm39) |
R457S |
probably damaging |
Het |
| Cntn1 |
A |
T |
15: 92,148,829 (GRCm39) |
I359F |
probably benign |
Het |
| Csnk1g1 |
T |
C |
9: 65,939,606 (GRCm39) |
V435A |
probably damaging |
Het |
| Csnka2ip |
A |
G |
16: 64,298,855 (GRCm39) |
V59A |
probably benign |
Het |
| Ddr2 |
A |
T |
1: 169,823,170 (GRCm39) |
Y371* |
probably null |
Het |
| Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,366,400 (GRCm39) |
I1901V |
probably damaging |
Het |
| Fanci |
T |
A |
7: 79,088,056 (GRCm39) |
I903N |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,646,529 (GRCm39) |
Q471R |
probably damaging |
Het |
| Flvcr1 |
A |
T |
1: 190,757,577 (GRCm39) |
N238K |
probably damaging |
Het |
| Gsdmc3 |
A |
T |
15: 63,740,965 (GRCm39) |
L61H |
probably damaging |
Het |
| H2-M10.5 |
T |
A |
17: 37,084,836 (GRCm39) |
C187S |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,283,055 (GRCm39) |
I1977T |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,260,914 (GRCm39) |
I905F |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,590,585 (GRCm39) |
G506D |
probably damaging |
Het |
| Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
| Klhdc7b |
A |
G |
15: 89,271,800 (GRCm39) |
E894G |
probably damaging |
Het |
| Klra7 |
T |
C |
6: 130,201,070 (GRCm39) |
I229V |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,986,565 (GRCm39) |
T150A |
probably benign |
Het |
| Krtap20-1 |
T |
C |
16: 88,812,337 (GRCm39) |
|
probably benign |
Het |
| Lct |
T |
C |
1: 128,227,896 (GRCm39) |
Y1199C |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,724,642 (GRCm39) |
N75K |
possibly damaging |
Het |
| Lss |
T |
C |
10: 76,388,798 (GRCm39) |
S700P |
probably damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,559,375 (GRCm39) |
Q288L |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,012,109 (GRCm39) |
E653G |
probably damaging |
Het |
| Mphosph10 |
G |
T |
7: 64,041,918 (GRCm39) |
Q9K |
probably benign |
Het |
| Muc15 |
T |
A |
2: 110,561,603 (GRCm39) |
L13Q |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,134,602 (GRCm39) |
D18G |
probably benign |
Het |
| Nipsnap1 |
A |
G |
11: 4,839,101 (GRCm39) |
Y127C |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
| Or8g18 |
T |
C |
9: 39,149,286 (GRCm39) |
I145V |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,366,618 (GRCm39) |
Y28* |
probably null |
Het |
| Pdcd2l |
G |
A |
7: 33,885,826 (GRCm39) |
T286I |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,607,342 (GRCm39) |
V284A |
probably damaging |
Het |
| Phlpp2 |
C |
A |
8: 110,666,855 (GRCm39) |
T1128K |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,975,148 (GRCm39) |
V244A |
possibly damaging |
Het |
| Pld1 |
A |
G |
3: 28,163,917 (GRCm39) |
I783M |
probably benign |
Het |
| Plk5 |
T |
C |
10: 80,199,855 (GRCm39) |
V454A |
probably benign |
Het |
| Prkci |
T |
C |
3: 31,092,644 (GRCm39) |
S309P |
probably damaging |
Het |
| Prx |
A |
T |
7: 27,216,090 (GRCm39) |
D197V |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,728,589 (GRCm39) |
L537P |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,698,867 (GRCm39) |
N1121K |
probably benign |
Het |
| Rock2 |
T |
A |
12: 17,022,727 (GRCm39) |
D1055E |
probably benign |
Het |
| Rrp1b |
T |
C |
17: 32,275,785 (GRCm39) |
V444A |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGACGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| S1pr2 |
G |
A |
9: 20,879,388 (GRCm39) |
R147* |
probably null |
Het |
| Serpinb9b |
A |
T |
13: 33,223,887 (GRCm39) |
I360F |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,344,602 (GRCm39) |
|
probably null |
Het |
| Srsf11 |
C |
T |
3: 157,722,064 (GRCm39) |
|
probably benign |
Het |
| Sstr1 |
T |
C |
12: 58,260,264 (GRCm39) |
F296L |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,427,081 (GRCm39) |
I356L |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,136,705 (GRCm39) |
I2348T |
probably damaging |
Het |
| Tmed11 |
T |
A |
5: 108,925,291 (GRCm39) |
I174L |
probably benign |
Het |
| Tmem132a |
G |
A |
19: 10,838,931 (GRCm39) |
Q504* |
probably null |
Het |
| Unc5c |
A |
T |
3: 141,463,518 (GRCm39) |
D213V |
probably damaging |
Het |
| Utp25 |
A |
C |
1: 192,800,591 (GRCm39) |
S410A |
probably benign |
Het |
| Vgll4 |
T |
C |
6: 114,841,020 (GRCm39) |
D92G |
probably benign |
Het |
| Vps37a |
T |
C |
8: 40,965,162 (GRCm39) |
F5L |
probably benign |
Het |
| Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,898 (GRCm39) |
C803Y |
probably damaging |
Het |
| Zmym1 |
T |
C |
4: 126,942,814 (GRCm39) |
T427A |
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 |
|
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 |
|
|
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'- TAAATGCATGGCCCTGGTAGG -3'
(R):5'- GCCTTTAACATGGGCAGATG -3'
Sequencing Primer
(F):5'- TAGGCAGGCCAGCTCTG -3'
(R):5'- TGCAACACGGAAGTTTAAAGTGTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation