Incidental Mutation 'R6637:Adh1'
| ID |
525514 |
| 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 |
044758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6637 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137983346-137996459 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 137988231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 98
(C98*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004232]
[ENSMUST00000159159]
|
| AlphaFold |
P00329 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004232
AA Change: C98*
|
| SMART Domains |
Protein: ENSMUSP00000004232
Gene: ENSMUSG00000074207
AA Change: C98*
| 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 |
unknown
Transcript: ENSMUST00000159159
AA Change: V25E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160080
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162032
|
| Meta Mutation Damage Score |
0.9578 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Alms1 |
A |
G |
6: 85,596,716 (GRCm39) |
H514R |
possibly damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,386,890 (GRCm39) |
T234I |
probably damaging |
Het |
| Cxadr |
C |
T |
16: 78,130,391 (GRCm39) |
T186M |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fbxo16 |
A |
G |
14: 65,533,210 (GRCm39) |
|
probably null |
Het |
| Fign |
A |
G |
2: 63,858,252 (GRCm39) |
|
probably benign |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,416,203 (GRCm39) |
|
probably null |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Kcnk5 |
A |
C |
14: 20,194,789 (GRCm39) |
M183R |
probably null |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Lrrc8b |
A |
C |
5: 105,628,137 (GRCm39) |
D161A |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,057,293 (GRCm39) |
F169Y |
probably benign |
Het |
| Lsamp |
T |
A |
16: 41,353,743 (GRCm39) |
V2D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or5t15 |
T |
G |
2: 86,681,784 (GRCm39) |
K86T |
probably benign |
Het |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Ston2 |
G |
C |
12: 91,680,886 (GRCm39) |
T126S |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tbr1 |
A |
G |
2: 61,641,974 (GRCm39) |
D150G |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Ubxn4 |
C |
A |
1: 128,204,824 (GRCm39) |
Q505K |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,053,200 (GRCm39) |
E405G |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,650 (GRCm39) |
I742F |
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 |
|
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 |
|
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'- CAGGCGCTTTAAATGCGAATG -3'
(R):5'- TTTCCCTTGCAGGAGAACC -3'
Sequencing Primer
(F):5'- GACTAATTAGACTGACATAGCCTGG -3'
(R):5'- ACCTGCTGGTGCCTTCG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation