Incidental Mutation 'R0033:Aldh9a1'
| ID |
15409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh9a1
|
| Ensembl Gene |
ENSMUSG00000026687 |
| Gene Name |
aldehyde dehydrogenase 9, subfamily A1 |
| Synonyms |
ESTM40, TMABA-DH |
| MMRRC Submission |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
167177560-167196100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 167184140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 212
(S212P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028004]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028004
AA Change: S212P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028004
Gene: ENSMUSG00000026687
AA Change: S212P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
46 |
507 |
1.5e-174 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194843
|
| Meta Mutation Damage Score |
0.4813 |
| Coding Region Coverage |
- 1x: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
| Validation Efficiency |
96% (74/77) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rarg |
T |
A |
15: 102,147,270 (GRCm39) |
I372F |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Zfp420 |
A |
G |
7: 29,573,987 (GRCm39) |
D69G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly damaging |
Het |
|
| Other mutations in Aldh9a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01126:Aldh9a1
|
APN |
1 |
167,192,143 (GRCm39) |
missense |
probably benign |
0.21 |
|
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 |
|
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 |
2012-12-17 |
Incidental Mutation