Incidental Mutation 'IGL01640:Adh4'
| ID |
278722 |
| 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: 0.095)
|
| Stock # |
IGL01640
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,587 (GRCm39) |
T3A |
probably damaging |
Het |
| 4933402N03Rik |
A |
T |
7: 130,740,848 (GRCm39) |
S123T |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,679,428 (GRCm39) |
T559S |
probably damaging |
Het |
| Arel1 |
G |
A |
12: 84,967,475 (GRCm39) |
T783M |
probably damaging |
Het |
| B3gntl1 |
C |
T |
11: 121,563,846 (GRCm39) |
E5K |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,697,600 (GRCm39) |
F309I |
probably damaging |
Het |
| Fhod3 |
T |
G |
18: 25,248,850 (GRCm39) |
M1343R |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,995,303 (GRCm39) |
F44L |
probably damaging |
Het |
| Gm3633 |
A |
T |
14: 42,460,324 (GRCm39) |
Y206* |
probably null |
Het |
| Gprc6a |
A |
C |
10: 51,503,180 (GRCm39) |
F228V |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,668,292 (GRCm39) |
I453V |
possibly damaging |
Het |
| Kif2a |
A |
G |
13: 107,111,060 (GRCm39) |
I529T |
probably damaging |
Het |
| Lrrc19 |
C |
T |
4: 94,526,745 (GRCm39) |
V271I |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,041 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,610,856 (GRCm39) |
I49T |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,360,958 (GRCm39) |
|
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,214,228 (GRCm39) |
V86A |
probably damaging |
Het |
| Or52n20 |
A |
T |
7: 104,320,871 (GRCm39) |
S321C |
probably damaging |
Het |
| Or8g28 |
C |
A |
9: 39,169,559 (GRCm39) |
M136I |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,297 (GRCm39) |
T1308A |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,188,513 (GRCm39) |
N448S |
probably benign |
Het |
| Pole |
T |
A |
5: 110,446,132 (GRCm39) |
L571Q |
probably null |
Het |
| Rufy1 |
A |
G |
11: 50,281,205 (GRCm39) |
|
probably benign |
Het |
| Sftpd |
C |
A |
14: 40,894,592 (GRCm39) |
A276S |
probably benign |
Het |
| Slc35f4 |
A |
C |
14: 49,556,225 (GRCm39) |
V176G |
probably damaging |
Het |
| Snrpb |
T |
C |
2: 130,017,251 (GRCm39) |
D89G |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,790,035 (GRCm39) |
V577D |
probably benign |
Het |
| Synrg |
A |
C |
11: 83,872,334 (GRCm39) |
S152R |
probably damaging |
Het |
| Trgv7 |
T |
C |
13: 19,362,260 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,876,645 (GRCm39) |
E682G |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,718,744 (GRCm39) |
I2989T |
probably benign |
Het |
| Vmn1r116 |
A |
G |
7: 20,606,373 (GRCm39) |
T65A |
probably benign |
Het |
| Zfp469 |
G |
A |
8: 122,998,009 (GRCm39) |
|
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 |
|
|
IGL01979: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