Incidental Mutation 'IGL02185:Adh5'
| ID |
283580 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adh5
|
| Ensembl Gene |
ENSMUSG00000028138 |
| Gene Name |
alcohol dehydrogenase 5 (class III), chi polypeptide |
| Synonyms |
Adh3, Adh-5, GSNOR, S-nitrosoglutathione reductase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02185
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
138148854-138161260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138156815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 167
(D167G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005964]
[ENSMUST00000160201]
[ENSMUST00000198126]
|
| AlphaFold |
P28474 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005964
AA Change: D167G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000005964
Gene: ENSMUSG00000028138
AA Change: D167G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
32 |
160 |
6.5e-26 |
PFAM |
|
Pfam:ADH_zinc_N
|
202 |
336 |
2.9e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159392
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160201
|
| SMART Domains |
Protein: ENSMUSP00000142541
Gene: ENSMUSG00000028138
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198126
|
| SMART Domains |
Protein: ENSMUSP00000143676
Gene: ENSMUSG00000028138
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1MC5|B
|
1 |
38 |
7e-18 |
PDB |
|
SCOP:d1heta1
|
2 |
43 |
3e-13 |
SMART |
|
| 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 a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null mutants are viable with increased S-nitrosothiols in RBCs, increased susceptibility to various toxins, and abnormal blood pressure regulation under anesthesia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C9orf72 |
A |
T |
4: 35,197,046 (GRCm39) |
W340R |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,766,471 (GRCm39) |
A359T |
probably benign |
Het |
| Cnnm2 |
T |
C |
19: 46,751,434 (GRCm39) |
V408A |
probably benign |
Het |
| Eloa |
A |
G |
4: 135,740,290 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,772,598 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
A |
G |
14: 120,106,296 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,233,108 (GRCm39) |
I1736F |
possibly damaging |
Het |
| Ifrd2 |
A |
T |
9: 107,468,290 (GRCm39) |
I253F |
probably benign |
Het |
| Kctd7 |
G |
A |
5: 130,181,299 (GRCm39) |
V241I |
possibly damaging |
Het |
| Lcp1 |
T |
C |
14: 75,466,740 (GRCm39) |
F616L |
possibly damaging |
Het |
| Lyst |
C |
T |
13: 13,835,678 (GRCm39) |
Q1787* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,845,144 (GRCm39) |
T342S |
possibly damaging |
Het |
| Mcph1 |
A |
G |
8: 18,719,006 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,730,571 (GRCm39) |
H868R |
probably benign |
Het |
| Mefv |
T |
C |
16: 3,533,714 (GRCm39) |
T186A |
probably benign |
Het |
| Nol9 |
T |
A |
4: 152,142,368 (GRCm39) |
I666N |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,597,721 (GRCm39) |
N16K |
probably damaging |
Het |
| Or6c205 |
G |
T |
10: 129,086,904 (GRCm39) |
C167F |
possibly damaging |
Het |
| Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,798,955 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
A |
C |
14: 52,349,685 (GRCm39) |
K24N |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,797,548 (GRCm39) |
T122S |
probably damaging |
Het |
| Sfn |
A |
G |
4: 133,328,636 (GRCm39) |
S149P |
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,675,584 (GRCm39) |
V81A |
probably benign |
Het |
| Trav21-dv12 |
A |
T |
14: 54,113,955 (GRCm39) |
D25V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,598,878 (GRCm39) |
H11018R |
possibly damaging |
Het |
| Txn1 |
A |
T |
4: 57,950,883 (GRCm39) |
Y49N |
probably benign |
Het |
| Ulk2 |
C |
T |
11: 61,672,886 (GRCm39) |
A903T |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,444,360 (GRCm39) |
M4I |
unknown |
Het |
| Vmn2r85 |
G |
T |
10: 130,254,561 (GRCm39) |
L708I |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vrk2 |
T |
A |
11: 26,485,638 (GRCm39) |
R117* |
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,712,980 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
C |
A |
17: 5,803,157 (GRCm39) |
T420K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,228,869 (GRCm39) |
|
probably benign |
Het |
| Zfp958 |
T |
A |
8: 4,678,990 (GRCm39) |
C338* |
probably null |
Het |
|
| Other mutations in Adh5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Adh5
|
APN |
3 |
138,156,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02711:Adh5
|
APN |
3 |
138,160,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Adh5
|
UTSW |
3 |
138,157,174 (GRCm39) |
missense |
probably benign |
|
|
R0846:Adh5
|
UTSW |
3 |
138,156,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Adh5
|
UTSW |
3 |
138,159,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2113:Adh5
|
UTSW |
3 |
138,157,245 (GRCm39) |
missense |
probably benign |
|
|
R3854:Adh5
|
UTSW |
3 |
138,156,776 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4597:Adh5
|
UTSW |
3 |
138,151,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Adh5
|
UTSW |
3 |
138,151,136 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6112:Adh5
|
UTSW |
3 |
138,157,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7069:Adh5
|
UTSW |
3 |
138,156,812 (GRCm39) |
nonsense |
probably null |
|
|
R7209:Adh5
|
UTSW |
3 |
138,148,909 (GRCm39) |
unclassified |
probably benign |
|
|
R7262:Adh5
|
UTSW |
3 |
138,151,133 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7452:Adh5
|
UTSW |
3 |
138,160,506 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8525:Adh5
|
UTSW |
3 |
138,157,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9346:Adh5
|
UTSW |
3 |
138,157,203 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation