Incidental Mutation 'R3912:Adh7'
| ID |
309443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adh7
|
| Ensembl Gene |
ENSMUSG00000055301 |
| Gene Name |
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide |
| Synonyms |
Adh-3e, IV ADH, Adt-1, Adh-3t, Adh-3, Adh4, Adh3-t, Adh3-e, Adh3 |
| MMRRC Submission |
040910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R3912 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137923521-137939143 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137927541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 29
(V29E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090171]
|
| AlphaFold |
Q64437 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090171
AA Change: V29E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087633
Gene: ENSMUSG00000055301
AA Change: V29E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
34 |
160 |
6.6e-27 |
PFAM |
|
Pfam:ADH_zinc_N
|
202 |
337 |
2e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199865
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is 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 enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in defective ethanol clearance and reduced metabolism of retinal to retinoic acid. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
A |
G |
12: 84,063,806 (GRCm39) |
S305G |
probably damaging |
Het |
| Acot12 |
A |
G |
13: 91,918,208 (GRCm39) |
D167G |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,425,630 (GRCm39) |
|
probably null |
Het |
| Aopep |
G |
T |
13: 63,304,520 (GRCm39) |
E402* |
probably null |
Het |
| Atp2c2 |
A |
G |
8: 120,448,015 (GRCm39) |
K103E |
probably damaging |
Het |
| Camkk1 |
A |
G |
11: 72,924,642 (GRCm39) |
D285G |
probably benign |
Het |
| Ccdc158 |
G |
C |
5: 92,796,794 (GRCm39) |
T514S |
possibly damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,853,770 (GRCm39) |
D210V |
probably damaging |
Het |
| Cndp1 |
C |
T |
18: 84,650,124 (GRCm39) |
D190N |
probably benign |
Het |
| Eepd1 |
C |
T |
9: 25,394,600 (GRCm39) |
T288M |
probably damaging |
Het |
| Erbin |
G |
T |
13: 103,998,795 (GRCm39) |
T197K |
probably benign |
Het |
| Erbin |
G |
A |
13: 104,022,846 (GRCm39) |
|
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gbp3 |
C |
T |
3: 142,272,099 (GRCm39) |
|
probably benign |
Het |
| Gm14326 |
T |
C |
2: 177,587,658 (GRCm39) |
K446R |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,748,185 (GRCm39) |
Y518H |
probably damaging |
Het |
| Id2 |
T |
A |
12: 25,145,871 (GRCm39) |
K47* |
probably null |
Het |
| Ilf2 |
A |
G |
3: 90,394,367 (GRCm39) |
N295S |
probably benign |
Het |
| Ilf3 |
C |
T |
9: 21,309,422 (GRCm39) |
A526V |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc7 |
G |
A |
3: 157,997,589 (GRCm39) |
L158F |
probably damaging |
Het |
| Mroh9 |
C |
T |
1: 162,893,638 (GRCm39) |
C179Y |
probably damaging |
Het |
| Mrps18b |
C |
T |
17: 36,221,831 (GRCm39) |
V165I |
probably benign |
Het |
| Myrip |
A |
G |
9: 120,261,682 (GRCm39) |
S432G |
probably benign |
Het |
| Nutm2 |
C |
T |
13: 50,626,976 (GRCm39) |
A377V |
possibly damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Pate4 |
C |
A |
9: 35,523,140 (GRCm39) |
M1I |
probably null |
Het |
| Pax7 |
C |
A |
4: 139,508,209 (GRCm39) |
W272L |
probably benign |
Het |
| Ppp1r12b |
C |
T |
1: 134,815,056 (GRCm39) |
E320K |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,327,619 (GRCm39) |
Y278C |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,643,217 (GRCm39) |
N339D |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,787,313 (GRCm39) |
I1020T |
probably damaging |
Het |
| Scn4a |
T |
A |
11: 106,211,542 (GRCm39) |
I1492F |
probably damaging |
Het |
| Sec16a |
C |
T |
2: 26,304,399 (GRCm39) |
G2304D |
probably damaging |
Het |
| Shisa7 |
T |
A |
7: 4,833,239 (GRCm39) |
R341* |
probably null |
Het |
| Slc19a3 |
T |
A |
1: 83,000,424 (GRCm39) |
M198L |
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,863,753 (GRCm39) |
N669Y |
possibly damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,673,362 (GRCm39) |
F392S |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,674,610 (GRCm39) |
T534A |
possibly damaging |
Het |
| Susd4 |
A |
T |
1: 182,715,031 (GRCm39) |
Y284F |
probably damaging |
Het |
| Tas1r1 |
A |
T |
4: 152,116,381 (GRCm39) |
Y418N |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,187,138 (GRCm39) |
I584T |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Vmn1r39 |
C |
T |
6: 66,782,125 (GRCm39) |
M27I |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,744 (GRCm39) |
T223A |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,646,039 (GRCm39) |
I469T |
probably damaging |
Het |
| Wnt3a |
A |
C |
11: 59,140,828 (GRCm39) |
D229E |
possibly damaging |
Het |
|
| Other mutations in Adh7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00695:Adh7
|
APN |
3 |
137,927,495 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01596:Adh7
|
APN |
3 |
137,932,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01960:Adh7
|
APN |
3 |
137,932,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02792:Adh7
|
APN |
3 |
137,929,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03192:Adh7
|
APN |
3 |
137,933,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1127:Adh7
|
UTSW |
3 |
137,927,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1539:Adh7
|
UTSW |
3 |
137,929,716 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1612:Adh7
|
UTSW |
3 |
137,934,642 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1779:Adh7
|
UTSW |
3 |
137,929,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3913:Adh7
|
UTSW |
3 |
137,927,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Adh7
|
UTSW |
3 |
137,932,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5765:Adh7
|
UTSW |
3 |
137,932,090 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6383:Adh7
|
UTSW |
3 |
137,933,778 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6520:Adh7
|
UTSW |
3 |
137,929,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Adh7
|
UTSW |
3 |
137,929,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Adh7
|
UTSW |
3 |
137,934,606 (GRCm39) |
missense |
probably benign |
|
|
R7821:Adh7
|
UTSW |
3 |
137,932,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Adh7
|
UTSW |
3 |
137,929,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Adh7
|
UTSW |
3 |
137,929,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Adh7
|
UTSW |
3 |
137,927,567 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9395:Adh7
|
UTSW |
3 |
137,927,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Adh7
|
UTSW |
3 |
137,932,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Adh7
|
UTSW |
3 |
137,929,847 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Adh7
|
UTSW |
3 |
137,929,492 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGTTTATTAAAGACCGTGTGG -3'
(R):5'- ACATGATCAGTGGGTAAGTTAGC -3'
Sequencing Primer
(F):5'- TTAAAGACCGTGTGGATCCC -3'
(R):5'- TTTAAGAAGCCAACCTCTGAGCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation