Incidental Mutation 'R4193:Ak9'
| ID |
318422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
041024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R4193 (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 41211941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 226
(H226R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173494
AA Change: H226R
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: H226R
| 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 |
probably benign
Transcript: ENSMUST00000173517
AA Change: H226R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134344
Gene: ENSMUSG00000091415
AA Change: H226R
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
| Abcb1a |
G |
A |
5: 8,765,068 (GRCm39) |
|
probably null |
Het |
| Acap3 |
A |
G |
4: 155,986,234 (GRCm39) |
T285A |
probably benign |
Het |
| Adam20 |
A |
T |
8: 41,248,352 (GRCm39) |
N154I |
probably damaging |
Het |
| Adamts8 |
A |
T |
9: 30,870,604 (GRCm39) |
D693V |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,720,085 (GRCm39) |
S7G |
probably benign |
Het |
| Atxn7l3b |
C |
A |
10: 112,764,610 (GRCm39) |
L6F |
probably damaging |
Het |
| Bco1 |
C |
T |
8: 117,840,208 (GRCm39) |
T242M |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,070,845 (GRCm39) |
N268S |
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,327,225 (GRCm39) |
S292G |
probably null |
Het |
| Cdhr18 |
C |
T |
14: 13,914,416 (GRCm38) |
V9I |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,785,740 (GRCm39) |
S403N |
unknown |
Het |
| Ctps1 |
A |
G |
4: 120,405,335 (GRCm39) |
V369A |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,486,493 (GRCm39) |
K3356R |
probably benign |
Het |
| Dpf2 |
G |
A |
19: 5,957,044 (GRCm39) |
R60* |
probably null |
Het |
| Eif3h |
A |
T |
15: 51,662,695 (GRCm39) |
V117E |
probably damaging |
Het |
| Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
| Fez1 |
T |
A |
9: 36,755,023 (GRCm39) |
S7R |
probably damaging |
Het |
| Fh1 |
T |
A |
1: 175,442,407 (GRCm39) |
M148L |
possibly damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Gfm1 |
T |
G |
3: 67,339,053 (GRCm39) |
I52S |
probably damaging |
Het |
| Gm6729 |
A |
T |
10: 86,376,483 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr152 |
T |
G |
19: 4,192,906 (GRCm39) |
L149R |
probably damaging |
Het |
| H2bc27 |
T |
A |
11: 58,840,067 (GRCm39) |
L101Q |
probably damaging |
Het |
| Ifnar2 |
A |
T |
16: 91,201,232 (GRCm39) |
D491V |
probably damaging |
Het |
| Igkv14-126 |
T |
C |
6: 67,873,367 (GRCm39) |
S32P |
possibly damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,404,208 (GRCm39) |
E443G |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,088,774 (GRCm39) |
D1100G |
probably benign |
Het |
| Itga2 |
G |
A |
13: 115,023,185 (GRCm39) |
R56* |
probably null |
Het |
| Itga2b |
A |
G |
11: 102,360,511 (GRCm39) |
S10P |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 66,932,460 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
T |
G |
6: 39,146,030 (GRCm39) |
K299T |
probably damaging |
Het |
| Large2 |
T |
A |
2: 92,195,704 (GRCm39) |
D632V |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,297,487 (GRCm39) |
C3158Y |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,580,746 (GRCm39) |
D213E |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,651,512 (GRCm39) |
Q367R |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,964,808 (GRCm39) |
L1464P |
probably damaging |
Het |
| Or1e25 |
C |
G |
11: 73,494,243 (GRCm39) |
T279R |
probably damaging |
Het |
| Or2y1 |
A |
C |
11: 49,386,134 (GRCm39) |
Y258S |
probably damaging |
Het |
| Or7a40 |
A |
T |
16: 16,491,511 (GRCm39) |
D111E |
possibly damaging |
Het |
| Or8u10 |
T |
A |
2: 85,916,044 (GRCm39) |
I26F |
probably benign |
Het |
| Or9g20 |
C |
T |
2: 85,630,362 (GRCm39) |
C84Y |
probably benign |
Het |
| P2ry2 |
A |
G |
7: 100,647,657 (GRCm39) |
V216A |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,400,199 (GRCm39) |
K717E |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
| Phactr3 |
T |
A |
2: 177,924,945 (GRCm39) |
H293Q |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,859,286 (GRCm39) |
D74G |
possibly damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,350,081 (GRCm39) |
T286A |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,424,903 (GRCm39) |
L180Q |
probably damaging |
Het |
| Prkag2 |
A |
C |
5: 25,083,758 (GRCm39) |
M75R |
probably damaging |
Het |
| Prl7c1 |
T |
A |
13: 27,960,261 (GRCm39) |
M94L |
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,864,628 (GRCm39) |
I548V |
probably benign |
Het |
| Ptprr |
T |
C |
10: 116,088,769 (GRCm39) |
W307R |
probably damaging |
Het |
| Rab29 |
T |
C |
1: 131,797,700 (GRCm39) |
S52P |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,493 (GRCm39) |
F1505L |
probably damaging |
Het |
| Scn8a |
C |
T |
15: 100,869,484 (GRCm39) |
A209V |
probably damaging |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Septin4 |
A |
T |
11: 87,474,142 (GRCm39) |
|
probably null |
Het |
| Slc17a5 |
C |
A |
9: 78,466,388 (GRCm39) |
V269L |
possibly damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,556,049 (GRCm39) |
N299S |
probably damaging |
Het |
| Slc41a2 |
T |
A |
10: 83,137,085 (GRCm39) |
H274L |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,691,528 (GRCm39) |
D43E |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,088,958 (GRCm39) |
I121N |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,804,888 (GRCm39) |
|
probably benign |
Het |
| Tbl1xr1 |
T |
C |
3: 22,254,522 (GRCm39) |
F322L |
possibly damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,839,773 (GRCm39) |
L611* |
probably null |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,187,185 (GRCm39) |
V217A |
probably damaging |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn1r71 |
A |
T |
7: 10,482,175 (GRCm39) |
I105K |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,663 (GRCm39) |
F168L |
probably benign |
Het |
| Zfp945 |
C |
T |
17: 23,070,144 (GRCm39) |
|
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 |
|
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'- TGCGCTTATTGAGAACAACAG -3'
(R):5'- AAAGAGGTGAAAGCCTTTTGTG -3'
Sequencing Primer
(F):5'- AAGTTCTCACGCAGGCCTCAG -3'
(R):5'- TGAGGATTTTTATCAAACAAAGACCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation