Incidental Mutation 'IGL02711:Adh5'
| ID |
304562 |
| 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 # |
IGL02711
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
138148854-138161260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138160434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 323
(K323E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005964]
[ENSMUST00000029804]
[ENSMUST00000198126]
|
| AlphaFold |
P28474 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005964
AA Change: K323E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005964
Gene: ENSMUSG00000028138
AA Change: K323E
| 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 |
probably benign
Transcript: ENSMUST00000029804
|
| SMART Domains |
Protein: ENSMUSP00000029804
Gene: ENSMUSG00000005813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C6H2
|
9 |
54 |
1.6e-23 |
PFAM |
|
Pfam:Peptidase_M24
|
137 |
365 |
8.4e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159392
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,773,245 (GRCm39) |
|
probably null |
Het |
| Adamts10 |
T |
A |
17: 33,757,246 (GRCm39) |
M400K |
probably damaging |
Het |
| Adamts17 |
G |
A |
7: 66,701,788 (GRCm39) |
|
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,118,255 (GRCm39) |
W10R |
probably benign |
Het |
| Arhgap15 |
T |
C |
2: 44,006,674 (GRCm39) |
F264L |
possibly damaging |
Het |
| Atp6v1g3 |
T |
A |
1: 138,211,419 (GRCm39) |
L33Q |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,747,849 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,943,341 (GRCm39) |
F611S |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,405,862 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Cep76 |
A |
T |
18: 67,771,406 (GRCm39) |
S75R |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,251,676 (GRCm39) |
|
probably benign |
Het |
| Dbf4 |
G |
T |
5: 8,458,235 (GRCm39) |
A199E |
probably benign |
Het |
| Gldc |
C |
T |
19: 30,122,546 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
G |
A |
2: 3,503,557 (GRCm39) |
A117V |
probably benign |
Het |
| Igkv4-80 |
G |
A |
6: 68,993,801 (GRCm39) |
P30L |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,356,551 (GRCm39) |
W292R |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,226,401 (GRCm39) |
S982T |
probably damaging |
Het |
| Klhdc7b |
A |
T |
15: 89,272,246 (GRCm39) |
K1043* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,735,820 (GRCm39) |
|
probably benign |
Het |
| Krt86 |
T |
C |
15: 101,371,543 (GRCm39) |
Y38H |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,310,700 (GRCm39) |
I546T |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,980,515 (GRCm39) |
S222P |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,570,025 (GRCm39) |
V178A |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,531,359 (GRCm39) |
V191A |
probably benign |
Het |
| Msh3 |
T |
C |
13: 92,487,819 (GRCm39) |
T133A |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,390,673 (GRCm39) |
D12G |
probably damaging |
Het |
| Nox4 |
T |
C |
7: 87,046,076 (GRCm39) |
Y572H |
probably damaging |
Het |
| Nqo1 |
A |
T |
8: 108,119,563 (GRCm39) |
L30Q |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,261,083 (GRCm39) |
V30E |
probably damaging |
Het |
| Oxr1 |
A |
G |
15: 41,517,067 (GRCm39) |
|
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,377 (GRCm39) |
D1100G |
probably benign |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,779 (GRCm39) |
D285A |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,572,322 (GRCm39) |
N569S |
unknown |
Het |
| Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
| Ripor3 |
T |
G |
2: 167,848,200 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
C |
A |
3: 159,328,514 (GRCm39) |
H441N |
possibly damaging |
Het |
| St14 |
A |
G |
9: 31,001,196 (GRCm39) |
V845A |
probably benign |
Het |
| Tmem116 |
T |
A |
5: 121,625,804 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,119,532 (GRCm39) |
D147E |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,560,466 (GRCm39) |
G27566* |
probably null |
Het |
| Zscan18 |
G |
T |
7: 12,509,044 (GRCm39) |
|
probably benign |
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 |
|
IGL02185:Adh5
|
APN |
3 |
138,156,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
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