Incidental Mutation 'IGL01126:Aldh9a1'
| ID |
50315 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh9a1
|
| Ensembl Gene |
ENSMUSG00000026687 |
| Gene Name |
aldehyde dehydrogenase 9, subfamily A1 |
| Synonyms |
ESTM40, TMABA-DH |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
167177560-167196100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 167192143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 425
(T425I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028004]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028004
AA Change: T425I
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028004
Gene: ENSMUSG00000026687
AA Change: T425I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
46 |
507 |
1.5e-174 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191715
|
| 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. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Dnah5 |
T |
G |
15: 28,302,545 (GRCm39) |
F1601V |
possibly damaging |
Het |
| Dock7 |
A |
G |
4: 98,861,789 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,116,588 (GRCm39) |
I83V |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,577,336 (GRCm39) |
E76G |
possibly damaging |
Het |
| Map3k19 |
T |
A |
1: 127,752,068 (GRCm39) |
K428* |
probably null |
Het |
| Phkb |
T |
C |
8: 86,672,730 (GRCm39) |
M365T |
probably benign |
Het |
| Phyhip |
A |
G |
14: 70,700,797 (GRCm39) |
S95G |
probably benign |
Het |
| Pla1a |
T |
C |
16: 38,228,001 (GRCm39) |
D292G |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,487,185 (GRCm39) |
V496D |
probably benign |
Het |
| Rasal3 |
T |
C |
17: 32,616,379 (GRCm39) |
T271A |
possibly damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,651,648 (GRCm39) |
N520D |
possibly damaging |
Het |
| Sugp2 |
T |
C |
8: 70,704,524 (GRCm39) |
L687P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,537,590 (GRCm39) |
H34779Q |
probably benign |
Het |
| Txlna |
A |
G |
4: 129,528,158 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,129,866 (GRCm39) |
M662K |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 87,983,709 (GRCm39) |
A169E |
possibly damaging |
Het |
|
| Other mutations in Aldh9a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Aldh9a1
|
APN |
1 |
167,183,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02370:Aldh9a1
|
APN |
1 |
167,184,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Yummy
|
UTSW |
1 |
167,180,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Aldh9a1
|
UTSW |
1 |
167,184,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0197:Aldh9a1
|
UTSW |
1 |
167,189,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0520:Aldh9a1
|
UTSW |
1 |
167,188,960 (GRCm39) |
splice site |
probably benign |
|
|
R0836:Aldh9a1
|
UTSW |
1 |
167,177,824 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1224:Aldh9a1
|
UTSW |
1 |
167,180,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1340:Aldh9a1
|
UTSW |
1 |
167,184,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Aldh9a1
|
UTSW |
1 |
167,189,423 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2849:Aldh9a1
|
UTSW |
1 |
167,180,197 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4937:Aldh9a1
|
UTSW |
1 |
167,189,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4965:Aldh9a1
|
UTSW |
1 |
167,193,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5065:Aldh9a1
|
UTSW |
1 |
167,180,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6578:Aldh9a1
|
UTSW |
1 |
167,183,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7111:Aldh9a1
|
UTSW |
1 |
167,182,021 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7184:Aldh9a1
|
UTSW |
1 |
167,184,965 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7531:Aldh9a1
|
UTSW |
1 |
167,177,895 (GRCm39) |
missense |
probably benign |
|
|
R7673:Aldh9a1
|
UTSW |
1 |
167,189,119 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8026:Aldh9a1
|
UTSW |
1 |
167,180,236 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8147:Aldh9a1
|
UTSW |
1 |
167,184,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Aldh9a1
|
UTSW |
1 |
167,184,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9441:Aldh9a1
|
UTSW |
1 |
167,177,919 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9643:Aldh9a1
|
UTSW |
1 |
167,184,904 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2013-06-21 |
Incidental Mutation