Incidental Mutation 'IGL00945:Aldh5a1'
ID |
28867 |
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 # |
IGL00945
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
25091562-25121644 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 25110141 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 |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
A |
G |
5: 35,994,364 (GRCm39) |
I101V |
probably damaging |
Het |
Arhgef28 |
A |
C |
13: 98,103,907 (GRCm39) |
L728R |
possibly damaging |
Het |
Dct |
G |
A |
14: 118,277,916 (GRCm39) |
T218M |
probably damaging |
Het |
Hcn2 |
C |
T |
10: 79,569,637 (GRCm39) |
R546* |
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Lap3 |
A |
G |
5: 45,662,115 (GRCm39) |
|
probably null |
Het |
Mettl16 |
C |
T |
11: 74,708,192 (GRCm39) |
H464Y |
probably benign |
Het |
Myh13 |
G |
A |
11: 67,238,832 (GRCm39) |
R725Q |
probably null |
Het |
Nf1 |
T |
C |
11: 79,360,629 (GRCm39) |
F1436L |
probably damaging |
Het |
Nod1 |
C |
T |
6: 54,921,571 (GRCm39) |
|
probably null |
Het |
Or6c215 |
A |
T |
10: 129,637,776 (GRCm39) |
V206E |
possibly damaging |
Het |
Pde5a |
T |
A |
3: 122,629,291 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,616,391 (GRCm39) |
Y168C |
probably benign |
Het |
Plod2 |
A |
G |
9: 92,466,549 (GRCm39) |
I170V |
probably benign |
Het |
Pop5 |
A |
G |
5: 115,378,618 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
Sema3f |
G |
A |
9: 107,562,721 (GRCm39) |
S420L |
probably benign |
Het |
Shtn1 |
C |
T |
19: 59,007,384 (GRCm39) |
E289K |
possibly damaging |
Het |
Smarca1 |
A |
T |
X: 46,947,178 (GRCm39) |
Y526* |
probably null |
Het |
Sptan1 |
T |
C |
2: 29,890,083 (GRCm39) |
|
probably benign |
Het |
St7l |
C |
A |
3: 104,833,798 (GRCm39) |
H486Q |
probably damaging |
Het |
Tcte1 |
C |
A |
17: 45,852,115 (GRCm39) |
F449L |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,866,086 (GRCm39) |
|
probably benign |
Het |
Trim46 |
A |
G |
3: 89,151,725 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,640,193 (GRCm39) |
|
probably null |
Het |
Zc3h13 |
A |
G |
14: 75,567,587 (GRCm39) |
D960G |
probably damaging |
Het |
|
Other mutations in Aldh5a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01468:Aldh5a1
|
APN |
13 |
25,095,536 (GRCm39) |
utr 3 prime |
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 |
2013-04-17 |