Incidental Mutation 'IGL02489:Aldh6a1'
| ID |
295546 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh6a1
|
| Ensembl Gene |
ENSMUSG00000021238 |
| Gene Name |
aldehyde dehydrogenase family 6, subfamily A1 |
| Synonyms |
Mmsdh, 1110038I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
IGL02489
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84477491-84497778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84480746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 430
(T430A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081828]
[ENSMUST00000085192]
[ENSMUST00000153540]
|
| AlphaFold |
Q9EQ20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081828
|
| SMART Domains |
Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
29 |
N/A |
INTRINSIC |
|
Pfam:DUF4515
|
83 |
276 |
1.8e-44 |
PFAM |
|
coiled coil region
|
277 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085192
AA Change: T430A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: T430A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
48 |
512 |
1.9e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153540
|
| SMART Domains |
Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4515
|
1 |
105 |
3.9e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222641
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded enzyme is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This enzyme catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Mutations in the human gene result in Methylmalonate Semialdehyde Dehydrogenase Deficiency, characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,780,847 (GRCm39) |
|
probably benign |
Het |
| Ankrd6 |
T |
C |
4: 32,810,298 (GRCm39) |
D426G |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,639,540 (GRCm39) |
S280P |
possibly damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,535 (GRCm39) |
L416P |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,803,594 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
T |
C |
1: 45,431,971 (GRCm39) |
|
probably null |
Het |
| Ctsa |
A |
G |
2: 164,680,565 (GRCm39) |
Y402C |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,481 (GRCm39) |
V223A |
possibly damaging |
Het |
| Dnajb3 |
G |
T |
1: 88,133,032 (GRCm39) |
N123K |
probably benign |
Het |
| Fhad1 |
G |
T |
4: 141,684,931 (GRCm39) |
N469K |
probably damaging |
Het |
| Fmo3 |
G |
T |
1: 162,781,856 (GRCm39) |
T499K |
possibly damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,645 (GRCm39) |
C109Y |
probably benign |
Het |
| Lrrc27 |
G |
T |
7: 138,805,977 (GRCm39) |
R214L |
probably benign |
Het |
| Mc5r |
T |
A |
18: 68,472,597 (GRCm39) |
C319S |
probably damaging |
Het |
| Nwd2 |
A |
C |
5: 63,962,570 (GRCm39) |
Y718S |
probably damaging |
Het |
| Or8h7 |
T |
G |
2: 86,721,339 (GRCm39) |
Y60S |
probably damaging |
Het |
| Ppa1 |
T |
A |
10: 61,501,223 (GRCm39) |
D163E |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,259,468 (GRCm39) |
G303W |
probably damaging |
Het |
| Rnf182 |
T |
C |
13: 43,821,779 (GRCm39) |
L110P |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,045,074 (GRCm39) |
F659S |
probably damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,593 (GRCm39) |
Y217N |
possibly damaging |
Het |
| Ttc41 |
G |
T |
10: 86,596,778 (GRCm39) |
E1008* |
probably null |
Het |
| Unc80 |
T |
C |
1: 66,564,860 (GRCm39) |
M849T |
probably benign |
Het |
| Vmn2r76 |
A |
T |
7: 85,878,071 (GRCm39) |
I442N |
probably benign |
Het |
|
| Other mutations in Aldh6a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01700:Aldh6a1
|
APN |
12 |
84,486,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02213:Aldh6a1
|
APN |
12 |
84,479,326 (GRCm39) |
intron |
probably benign |
|
|
IGL02806:Aldh6a1
|
APN |
12 |
84,486,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Aldh6a1
|
APN |
12 |
84,480,756 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03183:Aldh6a1
|
APN |
12 |
84,483,214 (GRCm39) |
splice site |
probably null |
|
|
PIT4378001:Aldh6a1
|
UTSW |
12 |
84,488,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0015:Aldh6a1
|
UTSW |
12 |
84,488,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Aldh6a1
|
UTSW |
12 |
84,480,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Aldh6a1
|
UTSW |
12 |
84,486,437 (GRCm39) |
missense |
probably null |
0.01 |
|
R1468:Aldh6a1
|
UTSW |
12 |
84,488,544 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1468:Aldh6a1
|
UTSW |
12 |
84,488,544 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1579:Aldh6a1
|
UTSW |
12 |
84,488,622 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2300:Aldh6a1
|
UTSW |
12 |
84,486,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4351:Aldh6a1
|
UTSW |
12 |
84,490,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4447:Aldh6a1
|
UTSW |
12 |
84,486,483 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5205:Aldh6a1
|
UTSW |
12 |
84,486,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5242:Aldh6a1
|
UTSW |
12 |
84,483,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Aldh6a1
|
UTSW |
12 |
84,484,745 (GRCm39) |
splice site |
probably null |
|
|
R6849:Aldh6a1
|
UTSW |
12 |
84,490,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7001:Aldh6a1
|
UTSW |
12 |
84,488,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Aldh6a1
|
UTSW |
12 |
84,488,605 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7417:Aldh6a1
|
UTSW |
12 |
84,488,556 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7492:Aldh6a1
|
UTSW |
12 |
84,483,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Aldh6a1
|
UTSW |
12 |
84,488,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8511:Aldh6a1
|
UTSW |
12 |
84,480,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9572:Aldh6a1
|
UTSW |
12 |
84,487,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation