Incidental Mutation 'IGL01700:Aldh6a1'
ID |
104446 |
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: 0.214)
|
Stock # |
IGL01700
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
84477491-84497778 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84486312 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 202
(C202Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085192]
[ENSMUST00000220491]
|
AlphaFold |
Q9EQ20 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085192
AA Change: C202Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000082288 Gene: ENSMUSG00000021238 AA Change: C202Y
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: ENSMUST00000220491
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221969
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222641
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222656
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,319,549 (GRCm39) |
M1778L |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,582,198 (GRCm39) |
T276A |
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,517,702 (GRCm39) |
I556T |
probably benign |
Het |
Aqp4 |
A |
G |
18: 15,532,922 (GRCm39) |
I57T |
probably benign |
Het |
Atp1a1 |
T |
C |
3: 101,501,574 (GRCm39) |
D43G |
possibly damaging |
Het |
Cyld |
G |
A |
8: 89,433,727 (GRCm39) |
R172H |
probably damaging |
Het |
Ear2 |
A |
T |
14: 44,340,716 (GRCm39) |
R125* |
probably null |
Het |
Efcab9 |
T |
C |
11: 32,477,451 (GRCm39) |
R24G |
probably damaging |
Het |
F7 |
C |
A |
8: 13,078,685 (GRCm39) |
Q39K |
probably benign |
Het |
Galntl6 |
A |
T |
8: 58,411,494 (GRCm39) |
|
probably benign |
Het |
Kcnj5 |
A |
G |
9: 32,233,925 (GRCm39) |
V130A |
probably damaging |
Het |
Magee2 |
A |
G |
X: 103,899,574 (GRCm39) |
I359T |
possibly damaging |
Het |
Myh1 |
T |
G |
11: 67,102,238 (GRCm39) |
I843S |
probably damaging |
Het |
Nfat5 |
T |
A |
8: 108,065,762 (GRCm39) |
M98K |
probably damaging |
Het |
Nrip3 |
T |
A |
7: 109,361,074 (GRCm39) |
N200I |
possibly damaging |
Het |
Or6c219 |
A |
T |
10: 129,781,810 (GRCm39) |
N40K |
probably damaging |
Het |
Phkb |
A |
T |
8: 86,744,094 (GRCm39) |
Q581L |
probably benign |
Het |
Plxdc2 |
T |
C |
2: 16,516,926 (GRCm39) |
V69A |
probably benign |
Het |
Pou3f1 |
G |
T |
4: 124,552,650 (GRCm39) |
W384L |
probably damaging |
Het |
Prrc2a |
G |
A |
17: 35,369,643 (GRCm39) |
S1890L |
possibly damaging |
Het |
Psmc1 |
C |
A |
12: 100,079,337 (GRCm39) |
P27H |
probably damaging |
Het |
Pvr |
C |
A |
7: 19,643,157 (GRCm39) |
A359S |
probably benign |
Het |
Rasal1 |
A |
T |
5: 120,814,882 (GRCm39) |
I711F |
probably benign |
Het |
Ror1 |
C |
T |
4: 100,266,968 (GRCm39) |
A223V |
probably damaging |
Het |
Slc22a16 |
A |
T |
10: 40,479,904 (GRCm39) |
I638L |
unknown |
Het |
Slfn10-ps |
C |
T |
11: 82,919,938 (GRCm39) |
|
noncoding transcript |
Het |
Sptbn4 |
A |
G |
7: 27,103,693 (GRCm39) |
L1176P |
probably damaging |
Het |
Usp21 |
A |
T |
1: 171,110,975 (GRCm39) |
F421I |
probably damaging |
Het |
Utp25 |
G |
A |
1: 192,800,573 (GRCm39) |
P416S |
probably damaging |
Het |
Vmn1r61 |
T |
A |
7: 5,614,202 (GRCm39) |
R37S |
possibly damaging |
Het |
Vps13a |
G |
A |
19: 16,722,221 (GRCm39) |
R364* |
probably null |
Het |
Vps29 |
A |
G |
5: 122,500,930 (GRCm39) |
Y165C |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,742,195 (GRCm39) |
|
probably benign |
Het |
Wdr24 |
A |
G |
17: 26,044,802 (GRCm39) |
D219G |
probably damaging |
Het |
Xpo1 |
T |
C |
11: 23,226,422 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
C |
A |
2: 174,486,711 (GRCm39) |
T462K |
possibly damaging |
Het |
Zswim5 |
T |
C |
4: 116,843,658 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Aldh6a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02213:Aldh6a1
|
APN |
12 |
84,479,326 (GRCm39) |
intron |
probably benign |
|
IGL02489:Aldh6a1
|
APN |
12 |
84,480,746 (GRCm39) |
missense |
possibly damaging |
0.66 |
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 |
2014-01-21 |