Incidental Mutation 'IGL01979:Adh4'
| ID |
279246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adh4
|
| Ensembl Gene |
ENSMUSG00000037797 |
| Gene Name |
alcohol dehydrogenase 4 (class II), pi polypeptide |
| Synonyms |
Adh2, mouse class II type ADH |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
IGL01979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
138121227-138136653 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 138134788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013458]
[ENSMUST00000161312]
|
| AlphaFold |
Q9QYY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013458
|
| SMART Domains |
Protein: ENSMUSP00000013458
Gene: ENSMUSG00000037797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
34 |
165 |
3.1e-23 |
PFAM |
|
Pfam:ADH_zinc_N
|
207 |
337 |
8.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161312
|
| SMART Domains |
Protein: ENSMUSP00000124163
Gene: ENSMUSG00000037797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
46 |
177 |
2.8e-25 |
PFAM |
|
| 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 II alcohol dehydrogenase 4 pi 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 II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
A |
13: 94,584,971 (GRCm39) |
L394* |
probably null |
Het |
| Cdk2ap1 |
C |
T |
5: 124,486,772 (GRCm39) |
V57M |
probably damaging |
Het |
| Csnk2b |
T |
A |
17: 35,336,992 (GRCm39) |
N65I |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,801,691 (GRCm39) |
E945K |
probably benign |
Het |
| Eif2b2 |
A |
G |
12: 85,266,608 (GRCm39) |
D59G |
probably benign |
Het |
| Ero1a |
A |
T |
14: 45,525,201 (GRCm39) |
N441K |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,304,433 (GRCm39) |
D383G |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,789,649 (GRCm39) |
S26I |
probably damaging |
Het |
| Il20 |
A |
T |
1: 130,838,839 (GRCm39) |
I42K |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,790 (GRCm39) |
F1947L |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,983,261 (GRCm39) |
|
probably null |
Het |
| Numb |
G |
T |
12: 83,889,051 (GRCm39) |
H23N |
probably damaging |
Het |
| Or10q3 |
G |
A |
19: 11,848,587 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,648 (GRCm39) |
I210V |
probably benign |
Het |
| Ppp1r1b |
C |
T |
11: 98,247,666 (GRCm39) |
T111I |
probably damaging |
Het |
| Rad50 |
G |
A |
11: 53,577,005 (GRCm39) |
Q528* |
probably null |
Het |
| Scara3 |
A |
T |
14: 66,168,412 (GRCm39) |
S402T |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,168,593 (GRCm39) |
Y132C |
probably damaging |
Het |
| Sim2 |
C |
A |
16: 93,924,341 (GRCm39) |
N495K |
possibly damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,077,743 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,667,746 (GRCm39) |
D109G |
probably benign |
Het |
| Tex55 |
A |
C |
16: 38,648,255 (GRCm39) |
S285A |
possibly damaging |
Het |
| Traf1 |
T |
C |
2: 34,833,905 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn2r68 |
C |
A |
7: 84,871,325 (GRCm39) |
V653L |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,426,400 (GRCm39) |
Q555L |
probably benign |
Het |
|
| Other mutations in Adh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Adh4
|
APN |
3 |
138,126,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01450:Adh4
|
APN |
3 |
138,129,794 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01608:Adh4
|
APN |
3 |
138,134,788 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01618:Adh4
|
APN |
3 |
138,134,788 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01621:Adh4
|
APN |
3 |
138,134,788 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01640:Adh4
|
APN |
3 |
138,134,788 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01982:Adh4
|
APN |
3 |
138,134,788 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01993:Adh4
|
APN |
3 |
138,134,788 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02720:Adh4
|
APN |
3 |
138,124,981 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03030:Adh4
|
APN |
3 |
138,134,906 (GRCm39) |
missense |
probably benign |
0.13 |
|
PIT4403001:Adh4
|
UTSW |
3 |
138,129,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0295:Adh4
|
UTSW |
3 |
138,134,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Adh4
|
UTSW |
3 |
138,129,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Adh4
|
UTSW |
3 |
138,133,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1450:Adh4
|
UTSW |
3 |
138,129,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Adh4
|
UTSW |
3 |
138,134,807 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5137:Adh4
|
UTSW |
3 |
138,127,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5263:Adh4
|
UTSW |
3 |
138,133,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5566:Adh4
|
UTSW |
3 |
138,129,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6162:Adh4
|
UTSW |
3 |
138,121,250 (GRCm39) |
splice site |
probably null |
|
|
R7297:Adh4
|
UTSW |
3 |
138,134,901 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8430:Adh4
|
UTSW |
3 |
138,128,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Adh4
|
UTSW |
3 |
138,128,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9253:Adh4
|
UTSW |
3 |
138,129,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Adh4
|
UTSW |
3 |
138,125,091 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation