Incidental Mutation 'R5626:Adh1'
ID |
441830 |
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 |
043165-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5626 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
137983346-137996459 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 137986171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 53
(V53L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004232]
[ENSMUST00000159159]
|
AlphaFold |
P00329 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004232
AA Change: V53L
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000004232 Gene: ENSMUSG00000074207 AA Change: V53L
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: ENSMUST00000161799
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162032
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgap2 |
C |
T |
2: 91,105,737 (GRCm39) |
Q514* |
probably null |
Het |
Calhm2 |
A |
C |
19: 47,121,558 (GRCm39) |
C204G |
probably damaging |
Het |
Carhsp1 |
T |
C |
16: 8,478,897 (GRCm39) |
N119D |
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,471,980 (GRCm39) |
L133P |
probably damaging |
Het |
Clcn4 |
A |
T |
7: 7,292,017 (GRCm39) |
V598E |
probably damaging |
Het |
Cpxm2 |
TGCAGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAGCAG |
7: 131,661,581 (GRCm39) |
|
probably benign |
Het |
Ddi1 |
T |
C |
9: 6,266,003 (GRCm39) |
H122R |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,607,575 (GRCm39) |
T2697A |
probably benign |
Het |
Ednrb |
T |
A |
14: 104,080,564 (GRCm39) |
I117F |
probably damaging |
Het |
Egflam |
A |
G |
15: 7,280,688 (GRCm39) |
S446P |
possibly damaging |
Het |
F5 |
A |
G |
1: 164,036,604 (GRCm39) |
I1922V |
probably damaging |
Het |
Gpc1 |
T |
A |
1: 92,784,841 (GRCm39) |
|
probably null |
Het |
Gphn |
A |
C |
12: 78,730,671 (GRCm39) |
I769L |
probably benign |
Het |
Grid2 |
T |
C |
6: 64,053,929 (GRCm39) |
|
probably null |
Het |
Hira |
G |
T |
16: 18,746,262 (GRCm39) |
Q468H |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,532,318 (GRCm39) |
G3154E |
probably damaging |
Het |
Ighv16-1 |
G |
A |
12: 114,032,472 (GRCm39) |
T92M |
probably damaging |
Het |
Lcmt2 |
T |
C |
2: 120,969,943 (GRCm39) |
E380G |
probably benign |
Het |
Ms4a14 |
A |
G |
19: 11,281,419 (GRCm39) |
F380L |
probably benign |
Het |
Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
Ncbp1 |
G |
A |
4: 46,161,290 (GRCm39) |
S422N |
probably damaging |
Het |
Pcolce |
T |
A |
5: 137,608,661 (GRCm39) |
T26S |
probably damaging |
Het |
Pitpnm3 |
T |
C |
11: 72,003,158 (GRCm39) |
I51V |
probably benign |
Het |
Plcb3 |
T |
C |
19: 6,932,643 (GRCm39) |
S1041G |
probably benign |
Het |
Ppp5c |
T |
C |
7: 16,761,629 (GRCm39) |
D37G |
probably benign |
Het |
Prkca |
T |
C |
11: 107,948,641 (GRCm39) |
D116G |
possibly damaging |
Het |
Qrsl1 |
A |
T |
10: 43,757,516 (GRCm39) |
D367E |
probably benign |
Het |
Rbm26 |
T |
C |
14: 105,381,667 (GRCm39) |
T493A |
probably benign |
Het |
Saxo1 |
T |
C |
4: 86,363,826 (GRCm39) |
E219G |
probably damaging |
Het |
Slc22a16 |
A |
T |
10: 40,460,849 (GRCm39) |
|
probably null |
Het |
Tmem30c |
T |
C |
16: 57,096,506 (GRCm39) |
N205S |
possibly damaging |
Het |
Trp53i11 |
A |
G |
2: 93,029,723 (GRCm39) |
N119S |
possibly damaging |
Het |
Wnt3a |
A |
T |
11: 59,181,409 (GRCm39) |
I22N |
probably benign |
Het |
Zfp998 |
A |
G |
13: 66,580,040 (GRCm39) |
Y148H |
probably benign |
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 |
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 |
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'- CGGAAACACTGGAGAATCTTGG -3'
(R):5'- GAGGAAGCCTTCTATTGCCTG -3'
Sequencing Primer
(F):5'- CACTGGAGAATCTTGGAGATAAATG -3'
(R):5'- GAAGCCTTCTATTGCCTGGCTTTTC -3'
|
Posted On |
2016-11-08 |