Incidental Mutation 'IGL00510:Adh1'
| ID |
332534 |
| 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 # |
IGL00510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
137983346-137996459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137995668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 357
(N357S)
|
| 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: N357S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004232
Gene: ENSMUSG00000074207
AA Change: N357S
| 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
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap4 |
A |
G |
X: 6,942,863 (GRCm39) |
T389A |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,104,422 (GRCm39) |
E103G |
probably damaging |
Het |
| Aldh3b3 |
C |
A |
19: 4,015,863 (GRCm39) |
Q278K |
probably benign |
Het |
| Ap3m2 |
A |
T |
8: 23,287,243 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
T |
18: 22,656,622 (GRCm39) |
C1544F |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,801,404 (GRCm39) |
D716G |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 139,029,809 (GRCm39) |
R322L |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,540,701 (GRCm39) |
V2558M |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,989,698 (GRCm39) |
I203V |
possibly damaging |
Het |
| Gnai1 |
T |
A |
5: 18,496,617 (GRCm39) |
D102V |
probably benign |
Het |
| Gtf2h1 |
C |
T |
7: 46,468,634 (GRCm39) |
T524I |
possibly damaging |
Het |
| Hinfp |
G |
A |
9: 44,209,063 (GRCm39) |
R352C |
probably damaging |
Het |
| Lpin1 |
G |
A |
12: 16,603,993 (GRCm39) |
H613Y |
probably benign |
Het |
| Med29 |
C |
T |
7: 28,090,266 (GRCm39) |
A110T |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,739,464 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,490,654 (GRCm39) |
P329T |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,853,112 (GRCm39) |
Y593* |
probably null |
Het |
| Otx2 |
T |
C |
14: 48,896,192 (GRCm39) |
T289A |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,504,780 (GRCm39) |
T799A |
probably damaging |
Het |
| Plcb1 |
T |
A |
2: 135,093,676 (GRCm39) |
V163D |
possibly damaging |
Het |
| Rgs3 |
G |
A |
4: 62,619,417 (GRCm39) |
A501T |
possibly damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,733 (GRCm39) |
S455P |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,360,002 (GRCm39) |
T19A |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spryd7 |
T |
A |
14: 61,783,190 (GRCm39) |
N111Y |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,915,758 (GRCm39) |
S1005P |
probably 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 |
|
IGL01326:Adh1
|
APN |
3 |
137,992,672 (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 |
2015-08-05 |
Incidental Mutation