Incidental Mutation 'R6578:Aldh9a1'
| ID |
523833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh9a1
|
| Ensembl Gene |
ENSMUSG00000026687 |
| Gene Name |
aldehyde dehydrogenase 9, subfamily A1 |
| Synonyms |
ESTM40, TMABA-DH |
| MMRRC Submission |
044702-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6578 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
167177560-167196100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 167183328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 182
(Y182C)
|
| 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: Y182C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028004
Gene: ENSMUSG00000026687
AA Change: Y182C
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
G |
A |
6: 146,854,812 (GRCm39) |
R77* |
probably null |
Het |
| Alpk3 |
T |
A |
7: 80,728,432 (GRCm39) |
S521T |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,174,401 (GRCm39) |
R464G |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,623 (GRCm39) |
E232G |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,803,669 (GRCm39) |
S524G |
probably null |
Het |
| Casp1 |
A |
G |
9: 5,304,280 (GRCm39) |
K318R |
probably benign |
Het |
| Clock |
T |
A |
5: 76,364,556 (GRCm39) |
Q853L |
unknown |
Het |
| Clstn3 |
A |
G |
6: 124,427,663 (GRCm39) |
|
probably null |
Het |
| Ebpl |
A |
C |
14: 61,597,769 (GRCm39) |
V24G |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,319,014 (GRCm39) |
C568R |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,259,154 (GRCm39) |
I105T |
probably damaging |
Het |
| Gm7145 |
C |
T |
1: 117,913,525 (GRCm39) |
P136S |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,947,086 (GRCm39) |
R76S |
probably damaging |
Het |
| Hipk4 |
T |
C |
7: 27,227,812 (GRCm39) |
I186T |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,089,301 (GRCm39) |
D499G |
probably damaging |
Het |
| Krt26 |
T |
A |
11: 99,225,628 (GRCm39) |
Q284H |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,893,361 (GRCm39) |
I156T |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,910,652 (GRCm39) |
F274Y |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,864,411 (GRCm39) |
Q1436L |
probably benign |
Het |
| Nin |
A |
G |
12: 70,107,968 (GRCm39) |
V208A |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,253,488 (GRCm39) |
S294G |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,074,374 (GRCm39) |
N309K |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,520 (GRCm39) |
V873A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,991,996 (GRCm39) |
C724Y |
probably damaging |
Het |
| Pik3r2 |
T |
G |
8: 71,225,283 (GRCm39) |
I127L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,953,025 (GRCm39) |
M1531K |
possibly damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,836,028 (GRCm39) |
C490R |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,738 (GRCm39) |
T50A |
probably benign |
Het |
| Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
| Sema4c |
C |
T |
1: 36,589,834 (GRCm39) |
V507I |
probably benign |
Het |
| Skint8 |
C |
T |
4: 111,794,159 (GRCm39) |
T183I |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,721,697 (GRCm39) |
Q73* |
probably null |
Het |
| Sync |
T |
C |
4: 129,188,060 (GRCm39) |
L364P |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,355,454 (GRCm39) |
K376* |
probably null |
Het |
| Tanc1 |
C |
T |
2: 59,626,298 (GRCm39) |
R552C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,852 (GRCm39) |
I399V |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,446,247 (GRCm39) |
C455R |
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 |
|
R5065:Aldh9a1
|
UTSW |
1 |
167,180,128 (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'- CGCTAGACCTCAGGAGATTGTTTTG -3'
(R):5'- TTCCTTCAGGAGTGAGGCAGAG -3'
Sequencing Primer
(F):5'- TCCCCTGGAATTGGAACTACAGATG -3'
(R):5'- CAGAGCAGGGACAGGCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation