Incidental Mutation 'IGL01326:Adh1'
ID |
74253 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adh1
|
Ensembl Gene |
ENSMUSG00000074207 |
Gene Name |
alcohol dehydrogenase 1 (class I) |
Synonyms |
Adh-1-t, Adh-1t, Adh-1, Adh1tl, Adh1-t, Adh1-e, class I alcohol dehydrogenase, Adh-1e, ADH-AA |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01326
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
137983346-137996459 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137992672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 263
(V263M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004232]
[ENSMUST00000159159]
|
AlphaFold |
P00329 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004232
AA Change: V263M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000004232 Gene: ENSMUSG00000074207 AA Change: V263M
Domain | Start | End | E-Value | Type |
Pfam:ADH_N
|
34 |
161 |
1.3e-25 |
PFAM |
Pfam:ADH_zinc_N
|
203 |
337 |
3.6e-27 |
PFAM |
Pfam:ADH_zinc_N_2
|
236 |
369 |
1.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159159
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160080
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162032
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired metabolism of (and sensitivity to) ethanol and retinol. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
A |
7: 75,375,096 (GRCm39) |
H1909Q |
probably benign |
Het |
Atg2b |
C |
T |
12: 105,588,403 (GRCm39) |
A1936T |
probably damaging |
Het |
Atp8b3 |
G |
T |
10: 80,360,210 (GRCm39) |
L954M |
probably damaging |
Het |
C8a |
T |
C |
4: 104,713,617 (GRCm39) |
Y171C |
probably damaging |
Het |
Cd6 |
A |
G |
19: 10,768,466 (GRCm39) |
S508P |
probably benign |
Het |
Cdk4 |
A |
G |
10: 126,900,492 (GRCm39) |
D86G |
possibly damaging |
Het |
Cdr2l |
G |
T |
11: 115,281,796 (GRCm39) |
R100S |
probably benign |
Het |
Cndp1 |
T |
A |
18: 84,640,357 (GRCm39) |
T283S |
probably benign |
Het |
Cr2 |
T |
C |
1: 194,823,529 (GRCm39) |
Y1023C |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,713,181 (GRCm39) |
F1494L |
probably benign |
Het |
Eeig2 |
A |
G |
3: 108,887,101 (GRCm39) |
V299A |
possibly damaging |
Het |
Eng |
G |
T |
2: 32,562,394 (GRCm39) |
G231W |
probably benign |
Het |
Erp44 |
A |
G |
4: 48,218,126 (GRCm39) |
V181A |
probably benign |
Het |
Fkbp15 |
A |
G |
4: 62,241,487 (GRCm39) |
S553P |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,909,205 (GRCm39) |
V495A |
probably damaging |
Het |
Gm9631 |
A |
T |
11: 121,836,454 (GRCm39) |
D28E |
possibly damaging |
Het |
Gnptab |
G |
T |
10: 88,268,927 (GRCm39) |
L543F |
probably damaging |
Het |
H4c3 |
A |
T |
13: 23,882,353 (GRCm39) |
I27N |
probably damaging |
Het |
Khdrbs2 |
T |
G |
1: 32,696,558 (GRCm39) |
L329R |
possibly damaging |
Het |
Kidins220 |
C |
A |
12: 25,088,498 (GRCm39) |
H1080Q |
probably damaging |
Het |
Maml1 |
G |
A |
11: 50,156,715 (GRCm39) |
P487S |
probably benign |
Het |
Me1 |
C |
T |
9: 86,480,771 (GRCm39) |
|
probably null |
Het |
Morc2a |
C |
T |
11: 3,631,775 (GRCm39) |
R569C |
probably benign |
Het |
Mrc1 |
A |
G |
2: 14,271,335 (GRCm39) |
Q413R |
probably damaging |
Het |
Mrgprx1 |
A |
T |
7: 47,671,517 (GRCm39) |
C77S |
probably benign |
Het |
Mtarc2 |
T |
C |
1: 184,566,048 (GRCm39) |
|
probably benign |
Het |
Myo1d |
A |
T |
11: 80,575,147 (GRCm39) |
|
probably benign |
Het |
Nr4a1 |
T |
G |
15: 101,171,940 (GRCm39) |
L538R |
probably damaging |
Het |
Olfm1 |
T |
C |
2: 28,119,564 (GRCm39) |
Y385H |
probably damaging |
Het |
Or4a39 |
A |
T |
2: 89,236,675 (GRCm39) |
F249L |
possibly damaging |
Het |
Or5m9 |
A |
G |
2: 85,877,627 (GRCm39) |
E267G |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,795,148 (GRCm39) |
Y2278* |
probably null |
Het |
Plcg2 |
T |
C |
8: 118,300,738 (GRCm39) |
|
probably benign |
Het |
Prkdc |
G |
T |
16: 15,647,556 (GRCm39) |
C3660F |
probably benign |
Het |
Ptpn11 |
T |
C |
5: 121,281,199 (GRCm39) |
D493G |
probably damaging |
Het |
Rad23b |
T |
A |
4: 55,383,601 (GRCm39) |
F278I |
possibly damaging |
Het |
Saxo2 |
T |
C |
7: 82,297,613 (GRCm39) |
I9V |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,582,604 (GRCm39) |
I98V |
probably benign |
Het |
Serac1 |
T |
A |
17: 6,124,528 (GRCm39) |
|
probably benign |
Het |
Simc1 |
T |
C |
13: 54,672,473 (GRCm39) |
C274R |
probably benign |
Het |
Sirt3 |
A |
G |
7: 140,444,006 (GRCm39) |
|
probably benign |
Het |
Tctn3 |
A |
G |
19: 40,585,880 (GRCm39) |
L555P |
probably damaging |
Het |
Ttc14 |
A |
G |
3: 33,855,507 (GRCm39) |
I151V |
probably benign |
Het |
Ush2a |
T |
A |
1: 187,995,518 (GRCm39) |
Y96* |
probably null |
Het |
Usp42 |
T |
C |
5: 143,706,970 (GRCm39) |
T270A |
possibly damaging |
Het |
Vmn1r31 |
A |
G |
6: 58,449,784 (GRCm39) |
I27T |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,536,906 (GRCm39) |
A530T |
possibly damaging |
Het |
|
Other mutations in Adh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00424:Adh1
|
APN |
3 |
137,988,260 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00510:Adh1
|
APN |
3 |
137,995,668 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01662:Adh1
|
APN |
3 |
137,988,512 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02090:Adh1
|
APN |
3 |
137,988,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4687001:Adh1
|
UTSW |
3 |
137,995,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R0413:Adh1
|
UTSW |
3 |
137,986,193 (GRCm39) |
missense |
probably benign |
0.00 |
R0882:Adh1
|
UTSW |
3 |
137,992,558 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1426:Adh1
|
UTSW |
3 |
137,992,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Adh1
|
UTSW |
3 |
137,994,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1464:Adh1
|
UTSW |
3 |
137,994,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1901:Adh1
|
UTSW |
3 |
137,994,558 (GRCm39) |
missense |
probably benign |
0.00 |
R2056:Adh1
|
UTSW |
3 |
137,992,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R2095:Adh1
|
UTSW |
3 |
137,988,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R3155:Adh1
|
UTSW |
3 |
137,986,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R3752:Adh1
|
UTSW |
3 |
137,994,555 (GRCm39) |
missense |
probably benign |
|
R3795:Adh1
|
UTSW |
3 |
137,985,526 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4351:Adh1
|
UTSW |
3 |
137,986,258 (GRCm39) |
missense |
probably benign |
0.21 |
R4698:Adh1
|
UTSW |
3 |
137,988,274 (GRCm39) |
missense |
probably benign |
0.05 |
R4747:Adh1
|
UTSW |
3 |
137,994,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R5626:Adh1
|
UTSW |
3 |
137,986,171 (GRCm39) |
missense |
probably benign |
0.04 |
R6014:Adh1
|
UTSW |
3 |
137,992,559 (GRCm39) |
missense |
probably benign |
0.00 |
R6060:Adh1
|
UTSW |
3 |
137,992,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R6225:Adh1
|
UTSW |
3 |
137,995,565 (GRCm39) |
missense |
probably benign |
0.04 |
R6637:Adh1
|
UTSW |
3 |
137,988,231 (GRCm39) |
nonsense |
probably null |
|
R7129:Adh1
|
UTSW |
3 |
137,986,235 (GRCm39) |
missense |
probably damaging |
0.98 |
R7288:Adh1
|
UTSW |
3 |
137,988,493 (GRCm39) |
missense |
probably benign |
|
R7291:Adh1
|
UTSW |
3 |
137,988,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R7367:Adh1
|
UTSW |
3 |
137,996,312 (GRCm39) |
missense |
probably benign |
0.04 |
R7378:Adh1
|
UTSW |
3 |
137,994,648 (GRCm39) |
splice site |
probably null |
|
R7453:Adh1
|
UTSW |
3 |
137,995,702 (GRCm39) |
critical splice donor site |
probably null |
|
R7613:Adh1
|
UTSW |
3 |
137,992,592 (GRCm39) |
nonsense |
probably null |
|
R8848:Adh1
|
UTSW |
3 |
137,986,262 (GRCm39) |
missense |
probably benign |
0.12 |
R9513:Adh1
|
UTSW |
3 |
137,988,571 (GRCm39) |
nonsense |
probably null |
|
Z1187:Adh1
|
UTSW |
3 |
137,992,544 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1190:Adh1
|
UTSW |
3 |
137,992,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |