Incidental Mutation 'R5563:Aldh5a1'
| ID |
436715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh5a1
|
| Ensembl Gene |
ENSMUSG00000035936 |
| Gene Name |
aldhehyde dehydrogenase family 5, subfamily A1 |
| Synonyms |
6330403E24Rik, SSADH, D630032B01Rik, OTTMUSG00000000613 |
| MMRRC Submission |
043120-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R5563 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
25091562-25121644 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25102609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 285
(A285S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037615]
|
| AlphaFold |
Q8BWF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037615
AA Change: A285S
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: A285S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
57 |
518 |
7.7e-169 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151220
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
| Actn3 |
T |
C |
19: 4,922,344 (GRCm39) |
H101R |
probably damaging |
Het |
| Akp3 |
T |
C |
1: 87,053,646 (GRCm39) |
S174P |
probably damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,730 (GRCm39) |
P36L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,082 (GRCm39) |
P288L |
probably benign |
Het |
| Fktn |
T |
A |
4: 53,761,327 (GRCm39) |
N481K |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,546,207 (GRCm39) |
H173Q |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,395,688 (GRCm39) |
R1021G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,525,581 (GRCm39) |
F337L |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,206 (GRCm39) |
Y51F |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,944 (GRCm39) |
K569E |
possibly damaging |
Het |
| Mars1 |
T |
C |
10: 127,144,530 (GRCm39) |
Q170R |
probably benign |
Het |
| Mfsd4b2 |
C |
T |
10: 39,798,038 (GRCm39) |
E106K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,914,185 (GRCm39) |
D285G |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,163,788 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
G |
9: 53,474,427 (GRCm39) |
I740V |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,535,956 (GRCm39) |
|
probably null |
Het |
| Plin2 |
T |
C |
4: 86,580,341 (GRCm39) |
K140R |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,861,200 (GRCm39) |
T697A |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,199,437 (GRCm39) |
E179G |
probably damaging |
Het |
| Prtg |
G |
A |
9: 72,764,180 (GRCm39) |
R551H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,897 (GRCm39) |
R254G |
probably benign |
Het |
| Rhpn2 |
T |
A |
7: 35,070,652 (GRCm39) |
L194H |
probably damaging |
Het |
| Sp7 |
T |
C |
15: 102,267,755 (GRCm39) |
D17G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,712 (GRCm39) |
V128A |
possibly damaging |
Het |
| Uba5 |
G |
T |
9: 103,926,446 (GRCm39) |
T372K |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,846 (GRCm39) |
I284L |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,283 (GRCm39) |
T667A |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGCCTTGGTCTTTGTAAAAC -3'
(R):5'- AACAAAGGTTTTAGCTGCCTTC -3'
Sequencing Primer
(F):5'- TCTTTGTAAAACACATATGCATCCCC -3'
(R):5'- GTGAAGAGCTGCTCACCTTCTAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation