Incidental Mutation 'IGL02359:Aldh2'
| ID |
290410 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh2
|
| Ensembl Gene |
ENSMUSG00000029455 |
| Gene Name |
aldehyde dehydrogenase 2, mitochondrial |
| Synonyms |
Ahd5, Ahd-5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02359
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121704090-121731887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121713960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 128
(E128G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031411]
[ENSMUST00000129753]
[ENSMUST00000152945]
[ENSMUST00000199369]
|
| AlphaFold |
P47738 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031411
AA Change: E229G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455
AA Change: E229G
| 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 null
Transcript: ENSMUST00000129753
AA Change: E229G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142906
Gene: ENSMUSG00000029455
AA Change: E229G
| 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 null
Transcript: ENSMUST00000199369
AA Change: E128G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143261
Gene: ENSMUSG00000029455
AA Change: E128G
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
C |
12: 72,941,829 (GRCm39) |
|
probably null |
Het |
| Abca5 |
T |
A |
11: 110,166,156 (GRCm39) |
N1540I |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,179,562 (GRCm39) |
|
probably null |
Het |
| Ano3 |
A |
T |
2: 110,715,288 (GRCm39) |
L50* |
probably null |
Het |
| Atp13a3 |
A |
G |
16: 30,169,902 (GRCm39) |
I392T |
probably damaging |
Het |
| C1qtnf5 |
A |
G |
9: 44,019,631 (GRCm39) |
E85G |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,020,990 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
G |
A |
1: 54,311,680 (GRCm39) |
R222H |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,058,316 (GRCm39) |
I303N |
probably damaging |
Het |
| Cmip |
A |
T |
8: 118,137,994 (GRCm39) |
|
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,196 (GRCm39) |
Y60H |
probably damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,278,121 (GRCm39) |
W10R |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,483,378 (GRCm39) |
Y2076H |
probably damaging |
Het |
| Dpcd |
G |
T |
19: 45,565,493 (GRCm39) |
A156S |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,263,706 (GRCm39) |
N748S |
probably benign |
Het |
| Fam227b |
A |
G |
2: 125,988,174 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,540,073 (GRCm39) |
I654N |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,457,404 (GRCm39) |
N228K |
probably benign |
Het |
| Igkv3-2 |
T |
C |
6: 70,675,474 (GRCm39) |
L8P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,009,267 (GRCm39) |
F734L |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,079,370 (GRCm39) |
Y276C |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,208 (GRCm39) |
S178T |
possibly damaging |
Het |
| Marchf6 |
C |
T |
15: 31,509,905 (GRCm39) |
C28Y |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,081,931 (GRCm39) |
T356A |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,927 (GRCm39) |
L113P |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,689,180 (GRCm39) |
M1K |
probably null |
Het |
| Pgap2 |
G |
T |
7: 101,885,346 (GRCm39) |
V71F |
probably damaging |
Het |
| Prob1 |
T |
G |
18: 35,785,893 (GRCm39) |
E787A |
possibly damaging |
Het |
| Psmd2 |
C |
A |
16: 20,475,691 (GRCm39) |
D430E |
probably benign |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,441,803 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,782,900 (GRCm39) |
|
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,826,720 (GRCm39) |
I153V |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,251 (GRCm39) |
D628E |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,362,727 (GRCm39) |
S145P |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,197 (GRCm39) |
T408A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,261,122 (GRCm39) |
C1626R |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,939,043 (GRCm39) |
T217M |
possibly damaging |
Het |
| Wdr95 |
G |
A |
5: 149,504,084 (GRCm39) |
V155M |
probably damaging |
Het |
| Wsb1 |
G |
A |
11: 79,141,838 (GRCm39) |
L60F |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,267,278 (GRCm39) |
R297* |
probably null |
Het |
| Xkr6 |
T |
C |
14: 64,057,156 (GRCm39) |
Y356H |
unknown |
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 |
|
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 |
121,711,564 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation