Incidental Mutation 'IGL01468:Aldh5a1'
ID |
88188 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aldh5a1
|
Ensembl Gene |
ENSMUSG00000035936 |
Gene Name |
aldhehyde dehydrogenase family 5, subfamily A1 |
Synonyms |
6330403E24Rik, SSADH, D630032B01Rik, OTTMUSG00000000613 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.735)
|
Stock # |
IGL01468
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
25091562-25121644 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
G to T
at 25095536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037615]
|
AlphaFold |
Q8BWF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037615
|
SMART Domains |
Protein: ENSMUSP00000040591 Gene: ENSMUSG00000035936
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
57 |
518 |
7.7e-169 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225028
|
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. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and early death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
A |
10: 79,839,711 (GRCm39) |
V781I |
probably benign |
Het |
Arhgap12 |
T |
C |
18: 6,057,576 (GRCm39) |
T435A |
probably benign |
Het |
Atrnl1 |
G |
A |
19: 57,688,144 (GRCm39) |
V870I |
probably benign |
Het |
Cerkl |
A |
T |
2: 79,173,559 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
T |
A |
6: 47,248,305 (GRCm39) |
L13* |
probably null |
Het |
Cr2 |
G |
A |
1: 194,850,843 (GRCm39) |
P208S |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,908,612 (GRCm39) |
D1075G |
probably benign |
Het |
Dhx57 |
T |
A |
17: 80,563,039 (GRCm39) |
K863* |
probably null |
Het |
Dnaaf5 |
C |
A |
5: 139,137,235 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
T |
A |
3: 84,879,806 (GRCm39) |
I336K |
probably benign |
Het |
Ftcd |
A |
G |
10: 76,420,421 (GRCm39) |
D385G |
probably benign |
Het |
Gm10153 |
T |
C |
7: 141,743,778 (GRCm39) |
S117G |
unknown |
Het |
Gzmb |
T |
C |
14: 56,497,772 (GRCm39) |
Y156C |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,831,880 (GRCm39) |
D83E |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,467,191 (GRCm39) |
V364A |
probably damaging |
Het |
Mknk2 |
A |
G |
10: 80,503,498 (GRCm39) |
|
probably benign |
Het |
Or7a36 |
A |
T |
10: 78,819,696 (GRCm39) |
Q24L |
probably damaging |
Het |
Pgm1 |
A |
T |
4: 99,819,367 (GRCm39) |
N197I |
possibly damaging |
Het |
Prss39 |
C |
T |
1: 34,538,481 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,088,201 (GRCm39) |
V236A |
probably damaging |
Het |
Slc17a8 |
C |
T |
10: 89,427,883 (GRCm39) |
|
probably null |
Het |
Slc24a3 |
A |
G |
2: 145,455,500 (GRCm39) |
Y463C |
probably benign |
Het |
Slc4a7 |
A |
G |
14: 14,737,480 (GRCm38) |
E149G |
probably damaging |
Het |
Synj1 |
G |
A |
16: 90,807,060 (GRCm39) |
|
probably benign |
Het |
Tas2r138 |
T |
A |
6: 40,589,410 (GRCm39) |
M279L |
probably benign |
Het |
Terb1 |
A |
G |
8: 105,208,799 (GRCm39) |
|
probably benign |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Trmt5 |
C |
T |
12: 73,327,878 (GRCm39) |
V442I |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,840,071 (GRCm39) |
I383V |
possibly damaging |
Het |
Uchl4 |
A |
G |
9: 64,142,998 (GRCm39) |
T160A |
possibly damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,182,382 (GRCm39) |
M439K |
possibly damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,892,868 (GRCm39) |
L757Q |
probably damaging |
Het |
Zfp518a |
T |
C |
19: 40,904,475 (GRCm39) |
V1468A |
probably benign |
Het |
Zxdc |
A |
T |
6: 90,350,761 (GRCm39) |
E404V |
probably damaging |
Het |
|
Other mutations in Aldh5a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00945:Aldh5a1
|
APN |
13 |
25,110,141 (GRCm39) |
splice site |
probably benign |
|
IGL01538:Aldh5a1
|
APN |
13 |
25,102,495 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02839:Aldh5a1
|
APN |
13 |
25,095,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R0529:Aldh5a1
|
UTSW |
13 |
25,097,856 (GRCm39) |
missense |
probably benign |
0.00 |
R1820:Aldh5a1
|
UTSW |
13 |
25,111,555 (GRCm39) |
missense |
probably benign |
0.01 |
R2295:Aldh5a1
|
UTSW |
13 |
25,110,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4231:Aldh5a1
|
UTSW |
13 |
25,095,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4591:Aldh5a1
|
UTSW |
13 |
25,107,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Aldh5a1
|
UTSW |
13 |
25,095,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R5159:Aldh5a1
|
UTSW |
13 |
25,097,776 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5563:Aldh5a1
|
UTSW |
13 |
25,102,609 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6146:Aldh5a1
|
UTSW |
13 |
25,103,661 (GRCm39) |
critical splice donor site |
probably null |
|
R6362:Aldh5a1
|
UTSW |
13 |
25,102,533 (GRCm39) |
missense |
probably benign |
0.24 |
R6531:Aldh5a1
|
UTSW |
13 |
25,102,547 (GRCm39) |
missense |
probably benign |
0.11 |
R6705:Aldh5a1
|
UTSW |
13 |
25,096,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Aldh5a1
|
UTSW |
13 |
25,121,382 (GRCm39) |
nonsense |
probably null |
|
R7155:Aldh5a1
|
UTSW |
13 |
25,095,572 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7698:Aldh5a1
|
UTSW |
13 |
25,095,731 (GRCm39) |
missense |
probably damaging |
0.99 |
R8027:Aldh5a1
|
UTSW |
13 |
25,110,093 (GRCm39) |
nonsense |
probably null |
|
R8712:Aldh5a1
|
UTSW |
13 |
25,102,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R8849:Aldh5a1
|
UTSW |
13 |
25,121,464 (GRCm39) |
missense |
probably benign |
|
R8910:Aldh5a1
|
UTSW |
13 |
25,102,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R9417:Aldh5a1
|
UTSW |
13 |
25,095,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R9435:Aldh5a1
|
UTSW |
13 |
25,121,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R9674:Aldh5a1
|
UTSW |
13 |
25,110,038 (GRCm39) |
missense |
probably benign |
|
Z1177:Aldh5a1
|
UTSW |
13 |
25,095,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-18 |