Incidental Mutation 'IGL01450:Adh4'
ID |
84590 |
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 # |
IGL01450
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
138121227-138136653 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 138129794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 207
(C207S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000013458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013458]
[ENSMUST00000161312]
|
AlphaFold |
Q9QYY9 |
PDB Structure |
Mouse class II alcohol dehydrogenase complex with NADH [X-RAY DIFFRACTION]
Mouse class II alcohol dehydrogenase complex with NADH and inhibitor [X-RAY DIFFRACTION]
P47H MUTANT OF MOUSE CLASS II ALCOHOL DEHYDROGENASE COMPLEX WITH NADH [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000013458
AA Change: C207S
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000013458 Gene: ENSMUSG00000037797 AA Change: C207S
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
G |
A |
14: 103,288,919 (GRCm39) |
R143Q |
possibly damaging |
Het |
Akap8 |
C |
A |
17: 32,534,661 (GRCm39) |
R317L |
probably damaging |
Het |
Aptx |
T |
C |
4: 40,688,133 (GRCm39) |
T182A |
probably damaging |
Het |
Ccar2 |
A |
T |
14: 70,377,200 (GRCm39) |
|
probably benign |
Het |
Cd300ld2 |
T |
A |
11: 114,903,369 (GRCm39) |
|
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,539,144 (GRCm39) |
|
probably benign |
Het |
Cubn |
A |
G |
2: 13,355,673 (GRCm39) |
|
probably benign |
Het |
Cyp2j5 |
T |
A |
4: 96,546,927 (GRCm39) |
T196S |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,171,092 (GRCm39) |
|
probably benign |
Het |
Dync2li1 |
A |
T |
17: 84,940,984 (GRCm39) |
T67S |
possibly damaging |
Het |
Fetub |
A |
G |
16: 22,747,986 (GRCm39) |
N54S |
probably benign |
Het |
Gpld1 |
T |
C |
13: 25,163,664 (GRCm39) |
Y486H |
probably damaging |
Het |
Grb10 |
T |
A |
11: 11,920,432 (GRCm39) |
H62L |
probably damaging |
Het |
H6pd |
T |
G |
4: 150,068,575 (GRCm39) |
H264P |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,111,520 (GRCm39) |
S747P |
probably benign |
Het |
Mtcl3 |
T |
A |
10: 29,072,319 (GRCm39) |
M537K |
probably damaging |
Het |
Nkpd1 |
T |
C |
7: 19,257,550 (GRCm39) |
F293S |
probably damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Osbpl1a |
A |
C |
18: 13,004,152 (GRCm39) |
F422V |
possibly damaging |
Het |
Pclo |
A |
T |
5: 14,727,207 (GRCm39) |
|
probably benign |
Het |
Phc3 |
G |
A |
3: 30,968,653 (GRCm39) |
R825C |
probably damaging |
Het |
Plk2 |
G |
A |
13: 110,532,858 (GRCm39) |
V140M |
probably damaging |
Het |
Racgap1 |
A |
G |
15: 99,524,244 (GRCm39) |
S388P |
probably benign |
Het |
Rap1gds1 |
A |
T |
3: 138,671,681 (GRCm39) |
N146K |
probably damaging |
Het |
Rgs7 |
C |
T |
1: 174,913,746 (GRCm39) |
V1M |
probably benign |
Het |
Rps6ka5 |
A |
T |
12: 100,519,250 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
G |
11: 106,215,487 (GRCm39) |
I1163T |
probably damaging |
Het |
Selenop |
C |
T |
15: 3,306,755 (GRCm39) |
T178M |
probably benign |
Het |
Shank2 |
G |
T |
7: 143,838,805 (GRCm39) |
E680* |
probably null |
Het |
Sipa1l2 |
A |
C |
8: 126,149,316 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
T |
C |
18: 78,226,745 (GRCm39) |
T437A |
probably damaging |
Het |
Smarcc2 |
C |
T |
10: 128,305,189 (GRCm39) |
P307S |
probably damaging |
Het |
Sptb |
C |
A |
12: 76,671,014 (GRCm39) |
R443L |
possibly damaging |
Het |
Stpg3 |
T |
C |
2: 25,104,622 (GRCm39) |
|
probably benign |
Het |
Tinag |
T |
A |
9: 76,952,858 (GRCm39) |
E42V |
possibly damaging |
Het |
Topors |
C |
A |
4: 40,262,417 (GRCm39) |
R289L |
probably damaging |
Het |
Ubash3a |
C |
A |
17: 31,427,205 (GRCm39) |
A38E |
probably damaging |
Het |
Vmn2r121 |
T |
A |
X: 123,040,888 (GRCm39) |
Y481F |
possibly damaging |
Het |
Vps54 |
A |
T |
11: 21,241,135 (GRCm39) |
E359D |
probably benign |
Het |
Xkr6 |
G |
A |
14: 64,035,664 (GRCm39) |
R255H |
probably damaging |
Het |
Zfp750 |
C |
T |
11: 121,403,855 (GRCm39) |
R340H |
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 |
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 |
|
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 |
2013-11-11 |