Incidental Mutation 'IGL02839:Aldh5a1'
| ID |
361782 |
| 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 # |
IGL02839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
25091562-25121644 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25095603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 505
(S505P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037615]
|
| AlphaFold |
Q8BWF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037615
AA Change: S505P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: S505P
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,653,816 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
T |
C |
6: 90,546,857 (GRCm39) |
F387L |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,943 (GRCm39) |
T642A |
probably benign |
Het |
| Atg16l2 |
T |
C |
7: 100,942,604 (GRCm39) |
I364V |
probably damaging |
Het |
| Atp2c2 |
T |
C |
8: 120,475,859 (GRCm39) |
V584A |
possibly damaging |
Het |
| Axl |
A |
T |
7: 25,466,216 (GRCm39) |
|
probably null |
Het |
| Camta1 |
T |
C |
4: 151,228,969 (GRCm39) |
Q621R |
probably damaging |
Het |
| Cdca4 |
A |
T |
12: 112,785,511 (GRCm39) |
D72E |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,538,748 (GRCm39) |
Y1223N |
unknown |
Het |
| Drc1 |
T |
C |
5: 30,507,767 (GRCm39) |
M263T |
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,238 (GRCm39) |
Y213N |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 15,830,466 (GRCm39) |
D4343Y |
probably damaging |
Het |
| Ftdc1 |
A |
G |
16: 58,436,210 (GRCm39) |
Y38H |
probably damaging |
Het |
| Gucy2d |
T |
C |
7: 98,093,196 (GRCm39) |
V191A |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,095,734 (GRCm39) |
L355P |
probably damaging |
Het |
| Hdgfl3 |
C |
T |
7: 81,550,160 (GRCm39) |
G58D |
probably damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,432,667 (GRCm39) |
|
probably null |
Het |
| Klf12 |
A |
T |
14: 100,137,675 (GRCm39) |
C290* |
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,437,994 (GRCm39) |
I820N |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,740,329 (GRCm39) |
L555Q |
probably damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,527 (GRCm39) |
C134R |
probably damaging |
Het |
| Or13c7d |
T |
A |
4: 43,770,943 (GRCm39) |
K23* |
probably null |
Het |
| Or1p1 |
T |
A |
11: 74,180,196 (GRCm39) |
C241* |
probably null |
Het |
| Or4c11c |
G |
A |
2: 88,661,992 (GRCm39) |
C177Y |
probably damaging |
Het |
| Or56a3b |
A |
C |
7: 104,771,563 (GRCm39) |
T300P |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,753 (GRCm39) |
C104S |
probably benign |
Het |
| Or5t9 |
T |
A |
2: 86,659,712 (GRCm39) |
N205K |
probably benign |
Het |
| Pik3r6 |
A |
G |
11: 68,417,238 (GRCm39) |
E60G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,939 (GRCm39) |
I1758N |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,980,460 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
G |
T |
6: 71,486,689 (GRCm39) |
R440L |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,926,852 (GRCm39) |
V237A |
possibly damaging |
Het |
| Skic2 |
T |
C |
17: 35,066,774 (GRCm39) |
T165A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,539,874 (GRCm39) |
N762S |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,193,824 (GRCm39) |
N616S |
probably damaging |
Het |
| Trav14d-3-dv8 |
C |
A |
14: 53,316,247 (GRCm39) |
Q36K |
possibly damaging |
Het |
| Ttll6 |
T |
C |
11: 96,049,646 (GRCm39) |
V788A |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,452,856 (GRCm39) |
S357T |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,710,834 (GRCm39) |
H2701R |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,116,786 (GRCm39) |
S85P |
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 |
|
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 |
2015-12-18 |
Incidental Mutation