Incidental Mutation 'R0846:Adh5'
| ID |
77360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adh5
|
| Ensembl Gene |
ENSMUSG00000028138 |
| Gene Name |
alcohol dehydrogenase 5 (class III), chi polypeptide |
| Synonyms |
Adh3, Adh-5, GSNOR, S-nitrosoglutathione reductase |
| MMRRC Submission |
039025-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
138148854-138161260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 138156835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 174
(C174G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005964]
[ENSMUST00000160201]
[ENSMUST00000198126]
|
| AlphaFold |
P28474 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005964
AA Change: C174G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005964
Gene: ENSMUSG00000028138
AA Change: C174G
| 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 |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
| 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 |
|---|
| Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
| Cap1 |
A |
C |
4: 122,756,692 (GRCm39) |
|
probably null |
Het |
| Caps2 |
G |
A |
10: 112,051,490 (GRCm39) |
R587H |
probably damaging |
Het |
| Ccn1 |
T |
A |
3: 145,353,525 (GRCm39) |
M346L |
possibly damaging |
Het |
| Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
| Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,734 (GRCm39) |
T160A |
probably benign |
Het |
| Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,190,145 (GRCm39) |
I546V |
probably benign |
Het |
| Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,521,298 (GRCm39) |
S443T |
probably benign |
Het |
| Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
| Ldc1 |
A |
C |
4: 130,115,417 (GRCm39) |
S44A |
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
| Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
| Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
| Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,442,596 (GRCm39) |
D79G |
possibly damaging |
Het |
| Sync |
A |
G |
4: 129,187,897 (GRCm39) |
S310G |
probably benign |
Het |
| Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
probably damaging |
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 |
|
IGL02711:Adh5
|
APN |
3 |
138,160,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Adh5
|
UTSW |
3 |
138,157,174 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTTAGGGAAATGAGCCTGCC -3'
(R):5'- CGATACCAATGATCCGGGATGCAC -3'
Sequencing Primer
(F):5'- GAAATGAGCCTGCCCTTCC -3'
(R):5'- TTACAGCCCATGATCACTGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation