Incidental Mutation 'R0904:Adk'
| ID |
83262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adk
|
| Ensembl Gene |
ENSMUSG00000039197 |
| Gene Name |
adenosine kinase |
| Synonyms |
2310026J05Rik, 5033405D03Rik, AK |
| MMRRC Submission |
039062-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
21102642-21498637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 21142496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 26
(D26Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045376]
[ENSMUST00000223915]
[ENSMUST00000224069]
[ENSMUST00000224899]
|
| AlphaFold |
P55264 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045376
AA Change: D42Y
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000047665
Gene: ENSMUSG00000039197
AA Change: D42Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
41 |
359 |
1.1e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223861
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223915
AA Change: D40Y
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224069
AA Change: D26Y
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224899
AA Change: D33Y
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225742
|
| Meta Mutation Damage Score |
0.6732 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
89% (34/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in death before 14 days of age, growth retardation, liver abnormalities, apnea, and impaired temperature regulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,975,118 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,248,740 (GRCm39) |
V2829A |
probably benign |
Het |
| Bpifb9a |
T |
C |
2: 154,106,145 (GRCm39) |
|
probably benign |
Het |
| Dap |
G |
A |
15: 31,272,526 (GRCm39) |
|
probably benign |
Het |
| Eqtn |
A |
T |
4: 94,795,892 (GRCm39) |
S270T |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,619,487 (GRCm39) |
D764G |
probably damaging |
Het |
| Fbxl6 |
A |
T |
15: 76,421,283 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
T |
7: 125,268,014 (GRCm39) |
|
probably benign |
Het |
| H2-D1 |
G |
C |
17: 35,482,837 (GRCm39) |
M122I |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map1s |
C |
A |
8: 71,366,832 (GRCm39) |
P579Q |
probably damaging |
Het |
| Mapk10 |
A |
G |
5: 103,135,146 (GRCm39) |
|
probably benign |
Het |
| Mllt6 |
C |
G |
11: 97,555,824 (GRCm39) |
C51W |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Neurod2 |
G |
T |
11: 98,218,147 (GRCm39) |
T339K |
probably benign |
Het |
| Nfya |
G |
A |
17: 48,702,815 (GRCm39) |
Q29* |
probably null |
Het |
| Nipbl |
A |
T |
15: 8,391,202 (GRCm39) |
D257E |
probably benign |
Het |
| Pate5 |
T |
C |
9: 35,750,366 (GRCm39) |
D102G |
probably damaging |
Het |
| Pex5 |
G |
A |
6: 124,376,896 (GRCm39) |
|
probably benign |
Het |
| Pramel47 |
A |
C |
5: 95,489,186 (GRCm39) |
T210P |
probably damaging |
Het |
| Prx |
T |
A |
7: 27,217,719 (GRCm39) |
F879Y |
probably damaging |
Het |
| Resf1 |
G |
A |
6: 149,229,767 (GRCm39) |
A938T |
probably damaging |
Het |
| Scai |
G |
A |
2: 38,965,164 (GRCm39) |
T560M |
possibly damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,235 (GRCm39) |
|
noncoding transcript |
Het |
| Spdye4b |
A |
G |
5: 143,181,423 (GRCm39) |
|
probably benign |
Het |
| Ss18l1 |
A |
G |
2: 179,701,147 (GRCm39) |
Y287C |
probably damaging |
Het |
| Tpbg |
C |
A |
9: 85,726,617 (GRCm39) |
F195L |
unknown |
Het |
| Trbv16 |
T |
C |
6: 41,128,781 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
A |
G |
3: 141,509,601 (GRCm39) |
T620A |
probably benign |
Het |
| Vangl1 |
A |
G |
3: 102,091,310 (GRCm39) |
S259P |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,446 (GRCm39) |
M71K |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,719,094 (GRCm39) |
I816F |
probably damaging |
Het |
| Zfp268 |
T |
C |
4: 145,348,745 (GRCm39) |
Y61H |
possibly damaging |
Het |
|
| Other mutations in Adk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Adk
|
APN |
14 |
21,142,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01403:Adk
|
APN |
14 |
21,284,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01701:Adk
|
APN |
14 |
21,153,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02405:Adk
|
APN |
14 |
21,153,899 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02808:Adk
|
APN |
14 |
21,153,901 (GRCm39) |
missense |
probably benign |
0.08 |
|
jeopardy
|
UTSW |
14 |
21,284,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
presumption
|
UTSW |
14 |
21,290,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Adk
|
UTSW |
14 |
21,368,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0463:Adk
|
UTSW |
14 |
21,473,604 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1448:Adk
|
UTSW |
14 |
21,102,708 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R1695:Adk
|
UTSW |
14 |
21,431,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2048:Adk
|
UTSW |
14 |
21,368,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Adk
|
UTSW |
14 |
21,419,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Adk
|
UTSW |
14 |
21,290,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Adk
|
UTSW |
14 |
21,473,616 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6770:Adk
|
UTSW |
14 |
21,284,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6932:Adk
|
UTSW |
14 |
21,126,376 (GRCm39) |
start codon destroyed |
probably null |
0.23 |
|
R7146:Adk
|
UTSW |
14 |
21,376,682 (GRCm39) |
missense |
|
|
|
R7257:Adk
|
UTSW |
14 |
21,102,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7491:Adk
|
UTSW |
14 |
21,284,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7806:Adk
|
UTSW |
14 |
21,376,679 (GRCm39) |
missense |
|
|
|
R7922:Adk
|
UTSW |
14 |
21,368,111 (GRCm39) |
missense |
probably benign |
|
|
R8465:Adk
|
UTSW |
14 |
21,153,892 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9709:Adk
|
UTSW |
14 |
21,126,386 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTGATGTGCAACTGGCAAATCAAAG -3'
(R):5'- TTCCCTCCAACTGAGGGTGATATATGG -3'
Sequencing Primer
(F):5'- GCAACTGGCAAATCAAAGGTTTAATC -3'
(R):5'- gcaagaattacttttctccttctacc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation