Incidental Mutation 'R8027:Aldh5a1'
| ID |
617782 |
| 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 |
067466-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R8027 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
25091562-25121644 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 25110093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 147
(Y147*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037615]
|
| AlphaFold |
Q8BWF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037615
AA Change: Y147*
|
| SMART Domains |
Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: Y147*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
57 |
518 |
7.7e-169 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
C |
T |
3: 40,888,158 (GRCm39) |
T334I |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,272,574 (GRCm39) |
N527S |
probably damaging |
Het |
| Astn2 |
A |
C |
4: 65,459,208 (GRCm39) |
V1121G |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,747,809 (GRCm39) |
Y364N |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,906,962 (GRCm39) |
L685H |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,024,046 (GRCm39) |
L248P |
possibly damaging |
Het |
| Calcoco2 |
A |
T |
11: 95,991,241 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,543,215 (GRCm39) |
L241P |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,298,813 (GRCm38) |
|
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,125 (GRCm39) |
K101M |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,523,583 (GRCm39) |
T240I |
probably damaging |
Het |
| Fbxl8 |
C |
T |
8: 105,994,758 (GRCm39) |
T90I |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,790,983 (GRCm39) |
V998A |
probably benign |
Het |
| Fut1 |
G |
A |
7: 45,268,289 (GRCm39) |
G81E |
probably damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,331 (GRCm39) |
V285A |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,722 (GRCm39) |
T116A |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,279,727 (GRCm39) |
E145G |
probably benign |
Het |
| Grik1 |
T |
G |
16: 87,732,893 (GRCm39) |
T660P |
|
Het |
| Gzmk |
T |
A |
13: 113,308,434 (GRCm39) |
K256* |
probably null |
Het |
| Hsp90b1 |
A |
G |
10: 86,532,594 (GRCm39) |
S361P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,292,397 (GRCm39) |
S645P |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,678 (GRCm39) |
V329A |
probably benign |
Het |
| Leng8 |
CT |
C |
7: 4,145,855 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
A |
3: 86,325,219 (GRCm39) |
D1892E |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,329,976 (GRCm39) |
S101P |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,181,164 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nudt9 |
T |
A |
5: 104,212,793 (GRCm39) |
|
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,629 (GRCm39) |
I118F |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,069 (GRCm39) |
S688P |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,081,150 (GRCm39) |
M17T |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,565 (GRCm39) |
V189M |
possibly damaging |
Het |
| Ptprm |
T |
C |
17: 67,251,200 (GRCm39) |
Y559C |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,694 (GRCm39) |
Q290R |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,462,856 (GRCm39) |
Y1060C |
probably damaging |
Het |
| Sh3pxd2b |
C |
T |
11: 32,372,210 (GRCm39) |
T459M |
probably benign |
Het |
| Skint4 |
G |
T |
4: 112,015,182 (GRCm39) |
|
probably null |
Het |
| Skint8 |
T |
A |
4: 111,785,936 (GRCm39) |
D127E |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,582 (GRCm39) |
M95L |
probably benign |
Het |
| Slc5a2 |
A |
G |
7: 127,869,718 (GRCm39) |
M384V |
probably damaging |
Het |
| Timd5 |
T |
C |
11: 46,428,744 (GRCm39) |
I222T |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,456,706 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,727,060 (GRCm39) |
I5835T |
unknown |
Het |
| Tulp3 |
T |
C |
6: 128,311,436 (GRCm39) |
D73G |
probably benign |
Het |
| Ube2e2 |
A |
C |
14: 18,574,317 (GRCm38) |
W195G |
possibly damaging |
Het |
| Utp25 |
A |
G |
1: 192,800,530 (GRCm39) |
V430A |
probably benign |
Het |
| Wwp2 |
C |
A |
8: 108,282,109 (GRCm39) |
H768N |
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 |
|
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 |
|
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'- AGCTGACAGGATGGACACAC -3'
(R):5'- AAGACTTGCACCAAAGTTAGCC -3'
Sequencing Primer
(F):5'- GAAAACGAGATTGCTTTCGGCTCC -3'
(R):5'- GCACCAAAGTTAGCCATTTTTCAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation