Incidental Mutation 'R2295:Aldh5a1'
| ID |
245154 |
| 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 |
040294-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R2295 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
25091562-25121644 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25110082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 151
(F151S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037615]
|
| AlphaFold |
Q8BWF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037615
AA Change: F151S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: F151S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
57 |
518 |
7.7e-169 |
PFAM |
|
| Meta Mutation Damage Score |
0.9404 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,199,570 (GRCm39) |
V136I |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,133,291 (GRCm39) |
I638V |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,115,745 (GRCm39) |
D110E |
probably damaging |
Het |
| Capn15 |
G |
A |
17: 26,183,555 (GRCm39) |
R309* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,422,606 (GRCm39) |
I138V |
probably benign |
Het |
| Dennd3 |
G |
A |
15: 73,395,404 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,381,022 (GRCm39) |
V1990A |
probably benign |
Het |
| Dtna |
T |
G |
18: 23,764,469 (GRCm39) |
L546R |
probably damaging |
Het |
| Elac1 |
T |
C |
18: 73,872,300 (GRCm39) |
I232V |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,345 (GRCm39) |
E243K |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,322,120 (GRCm39) |
S222P |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,375,857 (GRCm39) |
T11A |
probably benign |
Het |
| Il18 |
A |
G |
9: 50,490,635 (GRCm39) |
E90G |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,520 (GRCm39) |
T720A |
probably benign |
Het |
| Kcnt1 |
G |
T |
2: 25,790,933 (GRCm39) |
A11S |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,846 (GRCm39) |
N32D |
possibly damaging |
Het |
| Nfic |
T |
C |
10: 81,256,365 (GRCm39) |
K122E |
probably damaging |
Het |
| Ntm |
A |
G |
9: 29,020,817 (GRCm39) |
V134A |
possibly damaging |
Het |
| Olfml2b |
G |
A |
1: 170,490,107 (GRCm39) |
|
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,532 (GRCm39) |
V119A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,108 (GRCm39) |
I289N |
probably damaging |
Het |
| Osbpl9 |
A |
G |
4: 109,059,331 (GRCm39) |
Y28H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,835 (GRCm39) |
Y1025N |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,141,020 (GRCm39) |
A43T |
probably benign |
Het |
| Polb |
A |
G |
8: 23,143,335 (GRCm39) |
L19P |
probably damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,734 (GRCm39) |
F23S |
possibly damaging |
Het |
| Prkab1 |
A |
T |
5: 116,159,715 (GRCm39) |
|
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,053,473 (GRCm39) |
S143P |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,584 (GRCm39) |
N1348D |
unknown |
Het |
| Srgap1 |
T |
C |
10: 121,630,665 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a1 |
A |
G |
7: 13,569,884 (GRCm39) |
|
probably null |
Het |
| Svopl |
C |
A |
6: 37,996,668 (GRCm39) |
A270S |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,486 (GRCm39) |
|
probably null |
Het |
| Toporsl |
A |
G |
4: 52,610,176 (GRCm39) |
D23G |
probably damaging |
Het |
| Trim30d |
A |
C |
7: 104,137,149 (GRCm39) |
C18W |
probably damaging |
Het |
| Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGACAGGATGGACACAC -3'
(R):5'- TAAGACTTGCACCAAAGTTAGCC -3'
Sequencing Primer
(F):5'- CCAGGAAAACGAGATTGCTTTC -3'
(R):5'- GCACCAAAGTTAGCCATTTTTCAGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation