Incidental Mutation 'R7806:Ak9'
| ID |
600788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
045861-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R7806 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41179433-41309565 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 41309080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000173494
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
| 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 null
Transcript: ENSMUST00000173494
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (83/85) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
C |
A |
8: 125,569,143 (GRCm39) |
V144F |
probably benign |
Het |
| Aar2 |
T |
A |
2: 156,393,031 (GRCm39) |
I140N |
possibly damaging |
Het |
| Abca15 |
A |
G |
7: 119,932,059 (GRCm39) |
N104S |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,142,825 (GRCm39) |
N803K |
probably damaging |
Het |
| Adk |
A |
G |
14: 21,376,679 (GRCm39) |
N26S |
|
Het |
| Alpk2 |
T |
C |
18: 65,482,487 (GRCm39) |
D40G |
probably benign |
Het |
| Ankrd65 |
A |
T |
4: 155,877,437 (GRCm39) |
H316L |
probably benign |
Het |
| Cabp7 |
C |
T |
11: 4,688,889 (GRCm39) |
A194T |
probably damaging |
Het |
| Ccdc180 |
A |
C |
4: 45,912,801 (GRCm39) |
K593N |
possibly damaging |
Het |
| Cd80 |
A |
G |
16: 38,294,315 (GRCm39) |
D66G |
probably benign |
Het |
| Cdh5 |
T |
C |
8: 104,867,448 (GRCm39) |
V575A |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,809 (GRCm39) |
Q2678R |
probably benign |
Het |
| Cideb |
G |
A |
14: 55,992,625 (GRCm39) |
T97M |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,638,157 (GRCm39) |
D35G |
probably benign |
Het |
| Clpx |
T |
C |
9: 65,207,213 (GRCm39) |
V37A |
probably benign |
Het |
| Cmya5 |
A |
C |
13: 93,230,770 (GRCm39) |
S1439R |
probably benign |
Het |
| Cndp2 |
T |
A |
18: 84,688,945 (GRCm39) |
H279L |
probably benign |
Het |
| Cngb1 |
A |
T |
8: 96,025,432 (GRCm39) |
|
probably null |
Het |
| Cpq |
T |
A |
15: 33,497,443 (GRCm39) |
N394K |
possibly damaging |
Het |
| Dedd |
T |
C |
1: 171,166,062 (GRCm39) |
L60P |
probably benign |
Het |
| Dennd3 |
C |
A |
15: 73,442,624 (GRCm39) |
L1216M |
possibly damaging |
Het |
| Dntt |
A |
T |
19: 41,018,071 (GRCm39) |
N65I |
probably benign |
Het |
| Fap |
T |
A |
2: 62,333,758 (GRCm39) |
E662V |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,700,821 (GRCm39) |
M2066K |
probably benign |
Het |
| Fggy |
G |
A |
4: 95,489,203 (GRCm39) |
G69E |
probably benign |
Het |
| Foxc1 |
G |
T |
13: 31,992,739 (GRCm39) |
G517C |
unknown |
Het |
| Gas2l3 |
A |
G |
10: 89,249,232 (GRCm39) |
Y629H |
probably benign |
Het |
| Gcnt2 |
A |
G |
13: 41,071,717 (GRCm39) |
N120S |
probably damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,714,142 (GRCm39) |
T300A |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,065,606 (GRCm39) |
R535G |
probably damaging |
Het |
| Gm3248 |
T |
A |
14: 5,943,883 (GRCm38) |
I114L |
probably benign |
Het |
| Gm3278 |
G |
A |
14: 16,082,211 (GRCm39) |
|
probably null |
Het |
| Gm3402 |
A |
C |
5: 146,451,090 (GRCm39) |
K44Q |
probably damaging |
Het |
| Gm3696 |
C |
G |
14: 18,433,094 (GRCm39) |
R188S |
probably benign |
Het |
| Gm3696 |
C |
A |
14: 18,433,095 (GRCm39) |
R188M |
probably benign |
Het |
| Gmppa |
T |
C |
1: 75,415,581 (GRCm39) |
L113P |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,890,091 (GRCm39) |
|
probably null |
Het |
| Gnal |
T |
A |
18: 67,346,145 (GRCm39) |
M275K |
probably damaging |
Het |
| Gopc |
G |
C |
10: 52,229,525 (GRCm39) |
N231K |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,487 (GRCm39) |
S343P |
probably benign |
Het |
| Gpr17 |
T |
C |
18: 32,080,593 (GRCm39) |
I157V |
probably benign |
Het |
| Grm7 |
T |
A |
6: 111,223,314 (GRCm39) |
Y451* |
probably null |
Het |
| Ikbke |
T |
C |
1: 131,199,635 (GRCm39) |
E286G |
probably damaging |
Het |
| Inpp5b |
A |
T |
4: 124,678,881 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
G |
A |
13: 95,818,765 (GRCm39) |
L664F |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,015,507 (GRCm39) |
E552G |
possibly damaging |
Het |
| Lamtor1 |
T |
A |
7: 101,555,220 (GRCm39) |
Y5* |
probably null |
Het |
| Lpin2 |
A |
G |
17: 71,552,166 (GRCm39) |
I829V |
probably damaging |
Het |
| Lrg1 |
T |
G |
17: 56,426,967 (GRCm39) |
D335A |
probably benign |
Het |
| Lrriq3 |
T |
C |
3: 154,804,444 (GRCm39) |
Y35H |
probably damaging |
Het |
| Mkx |
T |
A |
18: 7,000,607 (GRCm39) |
M112L |
probably benign |
Het |
| Mlxipl |
A |
C |
5: 135,163,397 (GRCm39) |
D760A |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,387 (GRCm39) |
T2429A |
possibly damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,566,715 (GRCm39) |
C134R |
unknown |
Het |
| Nanos1 |
A |
G |
19: 60,744,972 (GRCm39) |
E90G |
probably benign |
Het |
| Nckap1 |
T |
C |
2: 80,371,843 (GRCm39) |
D329G |
probably damaging |
Het |
| Or13a18 |
T |
C |
7: 140,190,685 (GRCm39) |
I194T |
probably benign |
Het |
| Or14j9 |
A |
C |
17: 37,875,112 (GRCm39) |
L30R |
probably damaging |
Het |
| Or8b12c |
T |
C |
9: 37,715,872 (GRCm39) |
S222P |
probably damaging |
Het |
| Or8g51 |
G |
T |
9: 38,609,567 (GRCm39) |
L32I |
probably benign |
Het |
| Osbpl7 |
A |
G |
11: 96,946,954 (GRCm39) |
H419R |
probably benign |
Het |
| Otog |
C |
T |
7: 45,935,200 (GRCm39) |
T1395I |
probably benign |
Het |
| Pigq |
T |
A |
17: 26,150,700 (GRCm39) |
I451F |
probably benign |
Het |
| Ptgfrn |
A |
G |
3: 100,984,448 (GRCm39) |
V248A |
possibly damaging |
Het |
| Rdh19 |
G |
T |
10: 127,692,740 (GRCm39) |
V136L |
probably damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,308 (GRCm39) |
T33A |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,302,371 (GRCm39) |
V432M |
|
Het |
| Rpl22l1 |
T |
A |
3: 28,860,962 (GRCm39) |
L60Q |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Samd3 |
A |
G |
10: 26,120,425 (GRCm39) |
T140A |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,189,623 (GRCm39) |
V419A |
possibly damaging |
Het |
| Serpinb6a |
T |
C |
13: 34,119,548 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
A |
G |
11: 53,881,476 (GRCm39) |
L414P |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,798,260 (GRCm39) |
V420D |
probably benign |
Het |
| Tcaim |
A |
G |
9: 122,663,995 (GRCm39) |
D495G |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,074,266 (GRCm39) |
V1873A |
possibly damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,527 (GRCm39) |
N387D |
probably damaging |
Het |
| Tmed8 |
A |
T |
12: 87,219,204 (GRCm39) |
I322N |
probably damaging |
Het |
| Tmod4 |
A |
C |
3: 95,034,915 (GRCm39) |
D168A |
probably benign |
Het |
| Trgc2 |
A |
T |
13: 19,491,390 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
C |
T |
2: 121,035,542 (GRCm39) |
E1520K |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,651,867 (GRCm39) |
I183F |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,401 (GRCm39) |
I692K |
probably benign |
Het |
| Vmn2r87 |
T |
A |
10: 130,315,679 (GRCm39) |
Y129F |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,278,501 (GRCm39) |
D253G |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 44,977,353 (GRCm39) |
I383T |
possibly damaging |
Het |
| Ythdc2 |
T |
C |
18: 44,983,491 (GRCm39) |
S553P |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,327,129 (GRCm39) |
|
probably null |
Het |
| Zic1 |
G |
A |
9: 91,247,024 (GRCm39) |
T16I |
probably 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 |
|
|
|
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'- TGCCATAGAGAAAAGCGAGTCC -3'
(R):5'- TCTGTAACGTAAGCAAGCTACC -3'
Sequencing Primer
(F):5'- TCCAGAAAATGATGACCTAAGCTAG -3'
(R):5'- GTAAGCAAGCTACCCAGTAACTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation