Incidental Mutation 'R6162:Adh4'
ID |
519606 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adh4
|
Ensembl Gene |
ENSMUSG00000037797 |
Gene Name |
alcohol dehydrogenase 4 (class II), pi polypeptide |
Synonyms |
Adh2, mouse class II type ADH |
MMRRC Submission |
044309-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R6162 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
138121227-138136653 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 138121250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162260
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
98% (40/41) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,259,047 (GRCm39) |
C2924W |
probably damaging |
Het |
Aox3 |
A |
T |
1: 58,198,890 (GRCm39) |
D695V |
possibly damaging |
Het |
Ccnj |
A |
G |
19: 40,833,606 (GRCm39) |
Y221C |
probably damaging |
Het |
Cct2 |
T |
A |
10: 116,894,091 (GRCm39) |
D221V |
probably damaging |
Het |
Cd5 |
G |
A |
19: 10,703,244 (GRCm39) |
T138M |
probably damaging |
Het |
Cep78 |
A |
T |
19: 15,952,304 (GRCm39) |
M307K |
probably benign |
Het |
Dclk1 |
C |
A |
3: 55,163,575 (GRCm39) |
D222E |
probably benign |
Het |
Dhrs11 |
C |
T |
11: 84,719,605 (GRCm39) |
G40D |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,900,382 (GRCm39) |
S3823G |
probably benign |
Het |
Dnai3 |
T |
A |
3: 145,750,617 (GRCm39) |
I821F |
probably damaging |
Het |
Dock3 |
A |
T |
9: 106,841,998 (GRCm39) |
Y944N |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,045,318 (GRCm39) |
D17G |
probably damaging |
Het |
Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
Fam20a |
G |
T |
11: 109,573,696 (GRCm39) |
S229* |
probably null |
Het |
Fbn1 |
T |
C |
2: 125,202,147 (GRCm39) |
D1242G |
probably damaging |
Het |
Ggt5 |
T |
A |
10: 75,425,626 (GRCm39) |
V28D |
possibly damaging |
Het |
Gimap4 |
A |
T |
6: 48,667,655 (GRCm39) |
I137F |
probably damaging |
Het |
Git2 |
T |
A |
5: 114,899,717 (GRCm39) |
H212L |
probably damaging |
Het |
Gprc6a |
T |
A |
10: 51,491,008 (GRCm39) |
I739F |
probably benign |
Het |
Il1rl2 |
A |
G |
1: 40,391,038 (GRCm39) |
Y327C |
probably damaging |
Het |
Lmf1 |
A |
G |
17: 25,831,368 (GRCm39) |
I205V |
probably benign |
Het |
Mipep |
C |
A |
14: 61,024,853 (GRCm39) |
P98Q |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,944,707 (GRCm39) |
D436G |
probably damaging |
Het |
Mtcl2 |
T |
A |
2: 156,881,784 (GRCm39) |
E756V |
possibly damaging |
Het |
Myorg |
A |
G |
4: 41,497,899 (GRCm39) |
V577A |
possibly damaging |
Het |
Notch1 |
C |
T |
2: 26,352,207 (GRCm39) |
V2035I |
probably benign |
Het |
Or1e28-ps1 |
T |
A |
11: 73,615,713 (GRCm39) |
I46F |
probably damaging |
Het |
Or2ag16 |
A |
T |
7: 106,352,227 (GRCm39) |
Y123N |
probably damaging |
Het |
Or4c118 |
G |
T |
2: 88,975,114 (GRCm39) |
F84L |
probably benign |
Het |
Oxa1l |
A |
G |
14: 54,605,789 (GRCm39) |
T395A |
probably damaging |
Het |
Phospho2 |
T |
A |
2: 69,626,375 (GRCm39) |
I177K |
probably damaging |
Het |
Prpf40a |
T |
C |
2: 53,049,317 (GRCm39) |
T224A |
probably benign |
Het |
Reln |
T |
A |
5: 22,116,048 (GRCm39) |
T2987S |
probably damaging |
Het |
Scn5a |
T |
A |
9: 119,351,621 (GRCm39) |
I787F |
probably damaging |
Het |
Sgsm2 |
A |
T |
11: 74,782,847 (GRCm39) |
D36E |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,072,401 (GRCm39) |
|
probably null |
Het |
Tas2r134 |
T |
C |
2: 51,517,571 (GRCm39) |
S17P |
probably damaging |
Het |
Top3a |
T |
C |
11: 60,636,763 (GRCm39) |
Y609C |
probably damaging |
Het |
Trem2 |
A |
G |
17: 48,655,694 (GRCm39) |
I84V |
probably damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,234,430 (GRCm39) |
L594P |
probably damaging |
Het |
Zdbf2 |
A |
T |
1: 63,319,977 (GRCm39) |
|
probably benign |
Het |
Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GATGGAGATGACCTTTGCTTAGTAAC -3'
(R):5'- ACTTCAGTCGCTGTGCCTTG -3'
Sequencing Primer
(F):5'- TGCACTTTGTCTAGTTGATACATTG -3'
(R):5'- TGCCTTGAGTGTAACCCGGAAG -3'
|
Posted On |
2018-06-04 |