Incidental Mutation 'R5065:Aldh9a1'
ID |
388282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aldh9a1
|
Ensembl Gene |
ENSMUSG00000026687 |
Gene Name |
aldehyde dehydrogenase 9, subfamily A1 |
Synonyms |
ESTM40, TMABA-DH |
MMRRC Submission |
042655-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5065 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
167177560-167196100 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 167180128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 74
(E74G)
|
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: E74G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000028004 Gene: ENSMUSG00000026687 AA Change: E74G
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
46 |
507 |
1.5e-174 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193091
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194843
|
Meta Mutation Damage Score |
0.5928 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (36/36) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
T |
A |
1: 138,779,893 (GRCm39) |
N120Y |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,382,432 (GRCm39) |
T272M |
probably benign |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Bcl2l10 |
A |
T |
9: 75,255,261 (GRCm39) |
E26V |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,457,453 (GRCm39) |
H1166Q |
probably benign |
Het |
Dennd2a |
C |
A |
6: 39,472,110 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
G |
9: 106,832,883 (GRCm39) |
F129L |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,462,359 (GRCm39) |
I377N |
probably damaging |
Het |
Gm8674 |
T |
C |
13: 50,056,613 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl2 |
A |
T |
1: 183,207,580 (GRCm39) |
H433L |
probably benign |
Het |
Hsfy2 |
G |
A |
1: 56,675,626 (GRCm39) |
Q304* |
probably null |
Het |
Ighg2c |
T |
C |
12: 113,251,708 (GRCm39) |
I140V |
unknown |
Het |
Kmt2a |
T |
C |
9: 44,753,997 (GRCm39) |
|
probably benign |
Het |
Map3k5 |
A |
G |
10: 19,958,213 (GRCm39) |
E671G |
probably damaging |
Het |
Map6 |
A |
G |
7: 98,985,917 (GRCm39) |
D607G |
probably benign |
Het |
Mroh4 |
C |
T |
15: 74,500,119 (GRCm39) |
|
probably null |
Het |
Or10g6 |
A |
G |
9: 39,934,546 (GRCm39) |
I286V |
probably benign |
Het |
Pcsk6 |
A |
G |
7: 65,560,047 (GRCm39) |
D124G |
possibly damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,445,689 (GRCm39) |
N3790K |
possibly damaging |
Het |
Polr3b |
C |
A |
10: 84,468,402 (GRCm39) |
N129K |
probably benign |
Het |
Ptpn23 |
A |
T |
9: 110,227,256 (GRCm39) |
L31Q |
possibly damaging |
Het |
Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,218,324 (GRCm39) |
I338V |
probably benign |
Het |
Slc39a7 |
A |
G |
17: 34,250,033 (GRCm39) |
|
probably benign |
Het |
Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
Sntg1 |
A |
G |
1: 8,433,663 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
A |
T |
10: 9,646,295 (GRCm39) |
L780Q |
probably damaging |
Het |
Tacr1 |
G |
A |
6: 82,531,859 (GRCm39) |
V252M |
possibly damaging |
Het |
Tdrp |
T |
C |
8: 14,003,791 (GRCm39) |
E182G |
probably damaging |
Het |
Vmn1r58 |
A |
G |
7: 5,413,834 (GRCm39) |
I132T |
probably benign |
Het |
Wap |
A |
T |
11: 6,586,840 (GRCm39) |
N86K |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGCTAGATCTGCAACCC -3'
(R):5'- CATCCAAGTCTACCTGCAGC -3'
Sequencing Primer
(F):5'- CAACCCTCGTTGGAGTTTAAAGG -3'
(R):5'- TGCAGCTCCCCTCAGAG -3'
|
Posted On |
2016-06-06 |