Incidental Mutation 'R7253:Ak9'
| ID |
564090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak9
|
| Ensembl Gene |
ENSMUSG00000091415 |
| Gene Name |
adenylate kinase 9 |
| Synonyms |
Gm7127, Akd2, Akd1, LOC215946 |
| MMRRC Submission |
045314-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R7253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41179433-41309565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41308480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1804
(N1804S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173494]
|
| AlphaFold |
G3UYQ4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000173494
AA Change: N1804S
|
| SMART Domains |
Protein: ENSMUSP00000134177
Gene: ENSMUSG00000091415
AA Change: N1804S
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (74/75) |
| 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 |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,391 (GRCm39) |
H199R |
not run |
Het |
| Akr1c21 |
C |
A |
13: 4,627,139 (GRCm39) |
T147N |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,123,216 (GRCm39) |
T30A |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,236,724 (GRCm39) |
D447G |
probably damaging |
Het |
| Amigo2 |
T |
C |
15: 97,142,956 (GRCm39) |
I489V |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,687,350 (GRCm39) |
Y322N |
probably damaging |
Het |
| Arhgap40 |
G |
T |
2: 158,389,576 (GRCm39) |
W583L |
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,916,084 (GRCm39) |
E430G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,034,104 (GRCm39) |
Y539C |
possibly damaging |
Het |
| C87436 |
T |
A |
6: 86,442,790 (GRCm39) |
L454Q |
probably damaging |
Het |
| Casp4 |
T |
G |
9: 5,324,868 (GRCm39) |
Y227D |
probably benign |
Het |
| Ccn6 |
T |
G |
10: 39,031,031 (GRCm39) |
N164T |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,083,555 (GRCm39) |
|
probably null |
Het |
| Chrna10 |
A |
G |
7: 101,761,293 (GRCm39) |
C433R |
probably benign |
Het |
| Cntln |
A |
T |
4: 85,036,710 (GRCm39) |
N214I |
probably damaging |
Het |
| Colec12 |
G |
A |
18: 9,848,922 (GRCm39) |
V367I |
probably damaging |
Het |
| Cyp46a1 |
T |
C |
12: 108,318,255 (GRCm39) |
I222T |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,239,945 (GRCm39) |
|
probably null |
Het |
| Dcaf7 |
C |
A |
11: 105,938,669 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,602,164 (GRCm39) |
|
probably null |
Het |
| Fam184a |
G |
T |
10: 53,574,901 (GRCm39) |
T236K |
probably benign |
Het |
| Glyctk |
T |
C |
9: 106,032,661 (GRCm39) |
T451A |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,452,944 (GRCm39) |
K484E |
possibly damaging |
Het |
| Hspbap1 |
G |
T |
16: 35,637,600 (GRCm39) |
C243F |
unknown |
Het |
| Hspg2 |
A |
C |
4: 137,247,257 (GRCm39) |
N1160T |
probably benign |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,728 (GRCm39) |
L48F |
probably benign |
Het |
| Jazf1 |
C |
A |
6: 52,754,637 (GRCm39) |
E146D |
probably benign |
Het |
| Katnb1 |
C |
T |
8: 95,822,125 (GRCm39) |
Q284* |
probably null |
Het |
| Kctd18 |
G |
T |
1: 58,001,115 (GRCm39) |
Y213* |
probably null |
Het |
| Klk1b26 |
T |
C |
7: 43,664,213 (GRCm39) |
S23P |
possibly damaging |
Het |
| Krt88 |
T |
C |
15: 101,348,392 (GRCm39) |
L26P |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,629,522 (GRCm39) |
V623I |
probably benign |
Het |
| Map3k4 |
T |
A |
17: 12,490,955 (GRCm39) |
M159L |
probably benign |
Het |
| Mast3 |
C |
A |
8: 71,242,326 (GRCm39) |
|
probably null |
Het |
| Mier1 |
G |
A |
4: 102,996,544 (GRCm39) |
|
probably null |
Het |
| Mrpl46 |
T |
C |
7: 78,431,207 (GRCm39) |
D117G |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,760 (GRCm39) |
S20G |
probably benign |
Het |
| Mup10 |
A |
T |
4: 60,538,077 (GRCm39) |
M4K |
unknown |
Het |
| Nlrp5 |
C |
T |
7: 23,116,816 (GRCm39) |
A180V |
possibly damaging |
Het |
| Nlrx1 |
T |
A |
9: 44,176,001 (GRCm39) |
|
probably null |
Het |
| Odad3 |
T |
C |
9: 21,913,767 (GRCm39) |
T2A |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,744 (GRCm39) |
F251L |
probably damaging |
Het |
| Or2t45 |
T |
C |
11: 58,669,822 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,969 (GRCm39) |
T36A |
possibly damaging |
Het |
| Or51aa2 |
C |
T |
7: 103,187,995 (GRCm39) |
A149T |
probably benign |
Het |
| Or5af2 |
T |
A |
11: 58,708,366 (GRCm39) |
C177* |
probably null |
Het |
| Or5ak22 |
A |
G |
2: 85,229,983 (GRCm39) |
I298T |
probably benign |
Het |
| Otud1 |
C |
A |
2: 19,663,742 (GRCm39) |
D290E |
probably damaging |
Het |
| Pank4 |
A |
G |
4: 155,055,377 (GRCm39) |
N249S |
probably benign |
Het |
| Pccb |
G |
T |
9: 100,913,966 (GRCm39) |
S84R |
probably benign |
Het |
| Pemt |
A |
T |
11: 59,862,081 (GRCm39) |
H194Q |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,970,856 (GRCm39) |
I634T |
possibly damaging |
Het |
| Pias2 |
T |
G |
18: 77,207,811 (GRCm39) |
I232R |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,686,952 (GRCm39) |
E620G |
probably damaging |
Het |
| Pramel17 |
A |
T |
4: 101,692,725 (GRCm39) |
V425E |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,713,150 (GRCm39) |
E1758K |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,444,134 (GRCm39) |
Q1490L |
probably benign |
Het |
| Ptx3 |
G |
T |
3: 66,132,368 (GRCm39) |
M296I |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,317,644 (GRCm39) |
P464L |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,589,733 (GRCm39) |
E258G |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Senp8 |
T |
C |
9: 59,644,478 (GRCm39) |
N226S |
probably benign |
Het |
| Six5 |
C |
T |
7: 18,828,901 (GRCm39) |
R114C |
probably damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,004,958 (GRCm39) |
T195A |
probably benign |
Het |
| Slpi |
G |
T |
2: 164,197,467 (GRCm39) |
Q51K |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,570,256 (GRCm39) |
V753A |
probably benign |
Het |
| Tbc1d32 |
C |
A |
10: 56,074,537 (GRCm39) |
M225I |
probably benign |
Het |
| Tent5a |
C |
A |
9: 85,208,770 (GRCm39) |
G18C |
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,558 (GRCm39) |
V57I |
probably benign |
Het |
| Trim44 |
G |
T |
2: 102,177,313 (GRCm39) |
P336T |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,633 (GRCm39) |
I264V |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,343,826 (GRCm39) |
E2022D |
probably benign |
Het |
| Zfp975 |
A |
G |
7: 42,311,036 (GRCm39) |
*526R |
probably null |
Het |
| Zp1 |
A |
G |
19: 10,893,933 (GRCm39) |
L424P |
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 |
|
|
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'- CGCATTACGTCCAGTTATATTGCAT -3'
(R):5'- AGCAGACAATCAACCTCGTT -3'
Sequencing Primer
(F):5'- CCTGTCGACTAGATGGTTGTCTAATC -3'
(R):5'- GTTTAACAACCCTGTCTACCACG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation