Incidental Mutation 'R0882:Adh1'
| ID |
80619 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
039049-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137983346-137996459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137992558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 225
(I225F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004232]
[ENSMUST00000159159]
|
| AlphaFold |
P00329 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004232
AA Change: I225F
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000004232
Gene: ENSMUSG00000074207
AA Change: I225F
| 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
|
| Meta Mutation Damage Score |
0.0672 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
100% (49/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,923,319 (GRCm39) |
K691E |
unknown |
Het |
| Alcam |
T |
C |
16: 52,073,573 (GRCm39) |
D564G |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,557,598 (GRCm39) |
T289S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cep68 |
T |
C |
11: 20,189,393 (GRCm39) |
I540V |
probably benign |
Het |
| Ctla4 |
T |
C |
1: 60,948,397 (GRCm39) |
V23A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,379,292 (GRCm39) |
D3675E |
probably benign |
Het |
| Fam209 |
G |
T |
2: 172,314,555 (GRCm39) |
V15F |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,942,664 (GRCm39) |
V1236A |
possibly damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,718,904 (GRCm39) |
I38T |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,615,505 (GRCm39) |
I110T |
probably damaging |
Het |
| Gm4841 |
C |
T |
18: 60,402,852 (GRCm39) |
A414T |
possibly damaging |
Het |
| Gtf3c4 |
A |
T |
2: 28,724,782 (GRCm39) |
Y176N |
probably damaging |
Het |
| H2bc18 |
G |
A |
3: 96,177,060 (GRCm39) |
|
probably null |
Het |
| Igsf9b |
T |
C |
9: 27,230,612 (GRCm39) |
Y264H |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,614,231 (GRCm39) |
N394Y |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,500,605 (GRCm39) |
T3815A |
possibly damaging |
Het |
| Lrwd1 |
T |
C |
5: 136,152,254 (GRCm39) |
|
probably null |
Het |
| Mc3r |
A |
G |
2: 172,091,711 (GRCm39) |
K311R |
probably benign |
Het |
| Myb |
T |
C |
10: 21,032,259 (GRCm39) |
T41A |
possibly damaging |
Het |
| Nfix |
T |
C |
8: 85,454,554 (GRCm39) |
D201G |
probably damaging |
Het |
| Nos1 |
T |
C |
5: 118,085,512 (GRCm39) |
V1280A |
probably damaging |
Het |
| Or51a5 |
A |
C |
7: 102,771,782 (GRCm39) |
S66A |
probably benign |
Het |
| Or8a1b |
T |
C |
9: 37,623,168 (GRCm39) |
M136V |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,178,488 (GRCm39) |
T582A |
probably damaging |
Het |
| Pcdhb12 |
C |
A |
18: 37,570,375 (GRCm39) |
A507E |
probably damaging |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,087,575 (GRCm39) |
A753E |
probably damaging |
Het |
| Plekha3 |
G |
A |
2: 76,513,142 (GRCm39) |
V76I |
possibly damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,567,081 (GRCm39) |
L33P |
probably damaging |
Het |
| Pot1b |
C |
T |
17: 55,973,400 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
T |
C |
2: 101,588,886 (GRCm39) |
E88G |
possibly damaging |
Het |
| Prss57 |
G |
A |
10: 79,621,699 (GRCm39) |
H97Y |
probably damaging |
Het |
| Rttn |
C |
T |
18: 88,991,813 (GRCm39) |
Q131* |
probably null |
Het |
| Scaf11 |
G |
T |
15: 96,316,176 (GRCm39) |
S1129R |
possibly damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,559,189 (GRCm39) |
M185K |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,445,021 (GRCm39) |
E19V |
probably damaging |
Het |
| Srgap2 |
A |
T |
1: 131,217,253 (GRCm39) |
C1020S |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,666,875 (GRCm39) |
S466P |
probably benign |
Het |
| Tmem109 |
T |
C |
19: 10,849,205 (GRCm39) |
R217G |
possibly damaging |
Het |
| Trio |
A |
T |
15: 27,732,980 (GRCm39) |
I2967N |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,968,191 (GRCm39) |
E899G |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,842 (GRCm39) |
|
probably benign |
Het |
| Vps53 |
A |
G |
11: 75,973,485 (GRCm39) |
F170L |
probably damaging |
Het |
| Zc2hc1a |
G |
A |
3: 7,591,422 (GRCm39) |
S149N |
possibly damaging |
Het |
| Zfp820 |
A |
G |
17: 22,042,817 (GRCm39) |
|
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,622,629 (GRCm39) |
F513V |
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 |
|
IGL00510:Adh1
|
APN |
3 |
137,995,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGCAAGGCAATATGTGCAGTG -3'
(R):5'- CAACAGCGAATTAAGCAGTCTGAGC -3'
Sequencing Primer
(F):5'- CAATATGTGCAGTGGGGAGC -3'
(R):5'- GTCTACCTAGAGCATTCTAGATGG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation