Incidental Mutation 'R4529:Aldh1a3'
| ID |
333033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1a3
|
| Ensembl Gene |
ENSMUSG00000015134 |
| Gene Name |
aldehyde dehydrogenase family 1, subfamily A3 |
| Synonyms |
RALDH3, V1, ALDH6, retinaldehyde dehydrogenase 3 |
| MMRRC Submission |
041592-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.614)
|
| Stock # |
R4529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
66040640-66077225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66051742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 404
(N404D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015278]
|
| AlphaFold |
Q9JHW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015278
AA Change: N404D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000015278
Gene: ENSMUSG00000015134
AA Change: N404D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
40 |
503 |
1.2e-188 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174701
|
| SMART Domains |
Protein: ENSMUSP00000133370
Gene: ENSMUSG00000015134
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
1 |
155 |
2.7e-55 |
PFAM |
|
Pfam:Aldedh
|
151 |
277 |
1.7e-46 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Nullizygous mice show neonatal death and persistent hyperplastic primary vitreous. Homozygotes for a null allele have choanal atresia, ethmoturbinal hypoplasia, ventral lens rotation, short ventral retina and no Harderian gland. Homozygotes for another allele show thick neural retina and no vitreum. [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 |
|---|
| Adgre1 |
A |
G |
17: 57,727,519 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Ankrd2 |
A |
T |
19: 42,032,240 (GRCm39) |
I231F |
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,913,899 (GRCm39) |
N641D |
probably damaging |
Het |
| C1qbp |
T |
C |
11: 70,869,550 (GRCm39) |
T178A |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,939,592 (GRCm39) |
Y64C |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,608,962 (GRCm39) |
H281R |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Fcamr |
A |
G |
1: 130,732,313 (GRCm39) |
H44R |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm5460 |
A |
C |
14: 33,767,769 (GRCm39) |
D459A |
probably damaging |
Het |
| H2-Q6 |
C |
T |
17: 35,644,820 (GRCm39) |
T203I |
probably null |
Het |
| Inmt |
T |
C |
6: 55,148,012 (GRCm39) |
M206V |
probably benign |
Het |
| Khdc3 |
T |
C |
9: 73,011,301 (GRCm39) |
S360P |
possibly damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,458,355 (GRCm39) |
V312G |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,270,832 (GRCm39) |
L899P |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,287 (GRCm39) |
V202A |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,149,419 (GRCm39) |
I920V |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,418,877 (GRCm39) |
V679E |
probably damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,131,100 (GRCm39) |
R785Q |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,976,984 (GRCm39) |
V162A |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,411,274 (GRCm39) |
L919P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,473,831 (GRCm39) |
|
probably null |
Het |
| Pou3f3 |
C |
A |
1: 42,737,714 (GRCm39) |
T470K |
probably benign |
Het |
| Prss38 |
T |
C |
11: 59,264,325 (GRCm39) |
Y214C |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,968,600 (GRCm39) |
Y109N |
probably damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,500,907 (GRCm39) |
Y413C |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,376,044 (GRCm39) |
C38R |
possibly damaging |
Het |
| Themis |
T |
C |
10: 28,658,331 (GRCm39) |
F453L |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Xpo7 |
G |
A |
14: 70,906,188 (GRCm39) |
T986M |
probably damaging |
Het |
| Zfp51 |
C |
T |
17: 21,684,998 (GRCm39) |
L538F |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 726,511 (GRCm39) |
L418S |
possibly damaging |
Het |
|
| Other mutations in Aldh1a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01618:Aldh1a3
|
APN |
7 |
66,058,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01718:Aldh1a3
|
APN |
7 |
66,049,953 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02009:Aldh1a3
|
APN |
7 |
66,051,789 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02041:Aldh1a3
|
APN |
7 |
66,057,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02680:Aldh1a3
|
APN |
7 |
66,055,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Aldh1a3
|
APN |
7 |
66,077,075 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0279:Aldh1a3
|
UTSW |
7 |
66,059,000 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0408:Aldh1a3
|
UTSW |
7 |
66,055,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Aldh1a3
|
UTSW |
7 |
66,049,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Aldh1a3
|
UTSW |
7 |
66,051,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0834:Aldh1a3
|
UTSW |
7 |
66,062,658 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1968:Aldh1a3
|
UTSW |
7 |
66,061,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2207:Aldh1a3
|
UTSW |
7 |
66,055,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Aldh1a3
|
UTSW |
7 |
66,072,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4975:Aldh1a3
|
UTSW |
7 |
66,068,927 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5138:Aldh1a3
|
UTSW |
7 |
66,057,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5761:Aldh1a3
|
UTSW |
7 |
66,068,927 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7186:Aldh1a3
|
UTSW |
7 |
66,055,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Aldh1a3
|
UTSW |
7 |
66,058,867 (GRCm39) |
nonsense |
probably null |
|
|
R9440:Aldh1a3
|
UTSW |
7 |
66,068,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTGCTACAGGCTTTGGG -3'
(R):5'- GCTGAGGGCCATTGAAAACAC -3'
Sequencing Primer
(F):5'- CTTTGGGGTTTGCCAAAAGC -3'
(R):5'- GTCCCCTCCTGGAAGAAAGTAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation