Incidental Mutation 'R0595:Aldh2'
| ID |
55056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh2
|
| Ensembl Gene |
ENSMUSG00000029455 |
| Gene Name |
aldehyde dehydrogenase 2, mitochondrial |
| Synonyms |
Ahd5, Ahd-5 |
| MMRRC Submission |
038785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0595 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121704090-121731887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121711564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 276
(A276T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031411]
[ENSMUST00000129753]
[ENSMUST00000152945]
[ENSMUST00000199369]
|
| AlphaFold |
P47738 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031411
AA Change: A276T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455
AA Change: A276T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
26 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
47 |
510 |
2.9e-185 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129753
AA Change: A276T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142906
Gene: ENSMUSG00000029455
AA Change: A276T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
26 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
47 |
471 |
1e-170 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152945
|
| SMART Domains |
Protein: ENSMUSP00000123545
Gene: ENSMUSG00000029455
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
26 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
47 |
185 |
1.8e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196694
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199369
|
| SMART Domains |
Protein: ENSMUSP00000143261
Gene: ENSMUSG00000029455
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
1 |
129 |
4.2e-43 |
PFAM |
|
Pfam:Aldedh
|
125 |
220 |
3.6e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200541
|
| Meta Mutation Damage Score |
0.5094 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous mutation of this gene results in the absence of oxidation activity in the mitochondria. Mice homozygous for a different allele exhibit decreased litter size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,790,417 (GRCm39) |
D1093E |
probably damaging |
Het |
| Aldh7a1 |
C |
T |
18: 56,679,965 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,143,890 (GRCm39) |
R964H |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,369 (GRCm39) |
V2251I |
probably benign |
Het |
| Atp6v1e1 |
A |
G |
6: 120,778,091 (GRCm39) |
V148A |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,408,111 (GRCm39) |
H73Q |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,713 (GRCm39) |
V807A |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,001 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,321,703 (GRCm39) |
|
probably null |
Het |
| Cep152 |
T |
C |
2: 125,436,983 (GRCm39) |
Q519R |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,243,487 (GRCm39) |
Y1608* |
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,720,598 (GRCm39) |
I2619V |
unknown |
Het |
| Dnajb9 |
A |
G |
12: 44,255,067 (GRCm39) |
V7A |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,408 (GRCm39) |
K1358R |
unknown |
Het |
| Fbxw7 |
C |
A |
3: 84,884,674 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,777,296 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,328,493 (GRCm39) |
L331Q |
probably damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,548,242 (GRCm39) |
I25N |
possibly damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,789 (GRCm39) |
E367K |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,206,950 (GRCm39) |
Y487C |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,968,574 (GRCm39) |
G59W |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,235,602 (GRCm39) |
T129A |
probably benign |
Het |
| Mmp10 |
G |
A |
9: 7,508,199 (GRCm39) |
E442K |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,235,672 (GRCm39) |
S646P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,535,917 (GRCm39) |
I2889N |
probably benign |
Het |
| Nlrp4d |
T |
A |
7: 10,114,972 (GRCm39) |
K581N |
probably benign |
Het |
| Nr3c2 |
C |
T |
8: 77,636,233 (GRCm39) |
P445S |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,810,868 (GRCm39) |
N289K |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,998,822 (GRCm39) |
V360E |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,744,203 (GRCm39) |
D766G |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,156 (GRCm39) |
N1236S |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,625,952 (GRCm39) |
Q3326P |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,073,189 (GRCm39) |
M57T |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,511,120 (GRCm39) |
F330I |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,180,089 (GRCm39) |
E448G |
possibly damaging |
Het |
| Scn10a |
T |
A |
9: 119,495,129 (GRCm39) |
M371L |
probably benign |
Het |
| Sgta |
T |
C |
10: 80,884,742 (GRCm39) |
D189G |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,091 (GRCm39) |
H413R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,510,674 (GRCm39) |
T95A |
probably damaging |
Het |
| Supt4a |
C |
T |
11: 87,633,982 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,605,003 (GRCm39) |
|
probably null |
Het |
| Tap2 |
T |
A |
17: 34,431,328 (GRCm39) |
V422D |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,799 (GRCm39) |
L149P |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,645 (GRCm39) |
S692P |
probably damaging |
Het |
| Tgm2 |
C |
T |
2: 157,984,962 (GRCm39) |
R48H |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,345,311 (GRCm39) |
F1725L |
possibly damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,778,670 (GRCm39) |
C672* |
probably null |
Het |
| Xkr9 |
A |
G |
1: 13,771,008 (GRCm39) |
I175V |
probably benign |
Het |
| Zfp428 |
T |
A |
7: 24,214,803 (GRCm39) |
S140T |
probably benign |
Het |
|
| Other mutations in Aldh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01813:Aldh2
|
APN |
5 |
121,710,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02145:Aldh2
|
APN |
5 |
121,706,056 (GRCm39) |
makesense |
probably null |
|
|
IGL02352:Aldh2
|
APN |
5 |
121,713,960 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02359:Aldh2
|
APN |
5 |
121,713,960 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02473:Aldh2
|
APN |
5 |
121,710,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02818:Aldh2
|
APN |
5 |
121,713,188 (GRCm39) |
missense |
probably benign |
|
|
IGL03182:Aldh2
|
APN |
5 |
121,718,787 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03324:Aldh2
|
APN |
5 |
121,713,188 (GRCm39) |
missense |
probably benign |
|
|
Flushed
|
UTSW |
5 |
121,710,879 (GRCm39) |
nonsense |
probably null |
|
|
R0595:Aldh2
|
UTSW |
5 |
121,711,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1697:Aldh2
|
UTSW |
5 |
121,716,404 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1992:Aldh2
|
UTSW |
5 |
121,714,026 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2174:Aldh2
|
UTSW |
5 |
121,710,731 (GRCm39) |
intron |
probably benign |
|
|
R4786:Aldh2
|
UTSW |
5 |
121,710,887 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4793:Aldh2
|
UTSW |
5 |
121,707,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5408:Aldh2
|
UTSW |
5 |
121,708,620 (GRCm39) |
intron |
probably benign |
|
|
R5934:Aldh2
|
UTSW |
5 |
121,717,678 (GRCm39) |
missense |
probably benign |
|
|
R6266:Aldh2
|
UTSW |
5 |
121,706,997 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6294:Aldh2
|
UTSW |
5 |
121,710,879 (GRCm39) |
nonsense |
probably null |
|
|
R6792:Aldh2
|
UTSW |
5 |
121,718,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7659:Aldh2
|
UTSW |
5 |
121,707,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9070:Aldh2
|
UTSW |
5 |
121,707,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9241:Aldh2
|
UTSW |
5 |
121,710,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0009:Aldh2
|
UTSW |
5 |
121,710,837 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0027:Aldh2
|
UTSW |
5 |
121,731,525 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGAGAGGTCAATGTCAGACCAC -3'
(R):5'- AACTGGCTATGCGACTTGGCTAC -3'
Sequencing Primer
(F):5'- GTCAATGTCAGACCACACAGG -3'
(R):5'- TGAGTCTGAGTCCCAGCAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation