Incidental Mutation 'IGL02897:Aldh1a3'
| ID |
363433 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh1a3
|
| Ensembl Gene |
ENSMUSG00000015134 |
| Gene Name |
aldehyde dehydrogenase family 1, subfamily A3 |
| Synonyms |
RALDH3, V1, ALDH6, retinaldehyde dehydrogenase 3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.459)
|
| Stock # |
IGL02897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
66040640-66077225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66077075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 29
(V29A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015278]
[ENSMUST00000174209]
[ENSMUST00000174215]
|
| AlphaFold |
Q9JHW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015278
AA Change: V29A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000015278
Gene: ENSMUSG00000015134
AA Change: V29A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
40 |
503 |
1.2e-188 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174215
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,467,308 (GRCm39) |
E108D |
probably benign |
Het |
| Abca7 |
T |
C |
10: 79,837,426 (GRCm39) |
F437L |
probably damaging |
Het |
| Abi2 |
T |
C |
1: 60,487,353 (GRCm39) |
V134A |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,990,470 (GRCm39) |
I75T |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,937,947 (GRCm39) |
K2715E |
probably damaging |
Het |
| Cd163 |
A |
T |
6: 124,302,486 (GRCm39) |
S1017C |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,395,067 (GRCm39) |
I76V |
probably benign |
Het |
| Cers6 |
T |
A |
2: 68,764,877 (GRCm39) |
C63* |
probably null |
Het |
| Chd9 |
T |
C |
8: 91,660,496 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,573,179 (GRCm39) |
N198D |
unknown |
Het |
| Cse1l |
T |
C |
2: 166,761,628 (GRCm39) |
C61R |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,323,123 (GRCm39) |
T2815A |
possibly damaging |
Het |
| Cyp19a1 |
G |
T |
9: 54,074,195 (GRCm39) |
T453K |
possibly damaging |
Het |
| Dlg1 |
G |
T |
16: 31,590,674 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,243,684 (GRCm39) |
Y339C |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,273,656 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,219,466 (GRCm39) |
E469G |
probably damaging |
Het |
| Ing3 |
T |
A |
6: 21,969,325 (GRCm39) |
V202E |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,450,619 (GRCm39) |
L578P |
probably damaging |
Het |
| Irak4 |
A |
G |
15: 94,451,872 (GRCm39) |
N155S |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,045 (GRCm39) |
S413T |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,807,692 (GRCm39) |
Y490F |
probably damaging |
Het |
| Med17 |
T |
G |
9: 15,178,830 (GRCm39) |
D447A |
probably damaging |
Het |
| Med26 |
T |
C |
8: 73,250,365 (GRCm39) |
T245A |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,781,938 (GRCm39) |
S490R |
possibly damaging |
Het |
| Nme5 |
A |
G |
18: 34,702,956 (GRCm39) |
|
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,167,337 (GRCm39) |
R85G |
probably benign |
Het |
| Rnf10 |
G |
T |
5: 115,386,700 (GRCm39) |
Q530K |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,338,798 (GRCm39) |
Y281* |
probably null |
Het |
| Sclt1 |
T |
C |
3: 41,629,822 (GRCm39) |
I330V |
probably benign |
Het |
| Smim14 |
A |
T |
5: 65,607,739 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,196,585 (GRCm39) |
H1536Q |
probably damaging |
Het |
| Tspan18 |
A |
G |
2: 93,050,518 (GRCm39) |
L35P |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,819 (GRCm39) |
V4568M |
probably damaging |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,744 (GRCm39) |
V296A |
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 |
|
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 |
|
R4529:Aldh1a3
|
UTSW |
7 |
66,051,742 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation