Incidental Mutation 'IGL01718:Aldh1a3'
| ID |
105010 |
| 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 # |
IGL01718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
66040640-66077225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66049953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 422
(F422L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015278]
|
| AlphaFold |
Q9JHW9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015278
AA Change: F422L
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000015278
Gene: ENSMUSG00000015134
AA Change: F422L
| 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 |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2m1 |
T |
C |
16: 20,360,944 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
A |
G |
15: 99,569,883 (GRCm39) |
Y68C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,704 (GRCm39) |
I434F |
possibly damaging |
Het |
| Diaph3 |
T |
A |
14: 86,893,774 (GRCm39) |
R78S |
unknown |
Het |
| Dnase1l2 |
T |
C |
17: 24,660,690 (GRCm39) |
D188G |
possibly damaging |
Het |
| Exosc9 |
T |
C |
3: 36,608,078 (GRCm39) |
|
probably benign |
Het |
| Fgf23 |
G |
A |
6: 127,057,436 (GRCm39) |
V251I |
probably benign |
Het |
| Fndc3c1 |
T |
C |
X: 105,489,534 (GRCm39) |
T296A |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,938,617 (GRCm39) |
E633G |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,212,576 (GRCm39) |
M16V |
probably benign |
Het |
| Jakmip3 |
T |
G |
7: 138,591,121 (GRCm39) |
S2A |
possibly damaging |
Het |
| Lrba |
T |
A |
3: 86,258,555 (GRCm39) |
N1347K |
probably damaging |
Het |
| Mars1 |
T |
C |
10: 127,141,707 (GRCm39) |
R266G |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,199 (GRCm39) |
S79P |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,675 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
T |
A |
9: 18,946,584 (GRCm39) |
L55* |
probably null |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,111 (GRCm39) |
|
probably benign |
Het |
| Ppid |
G |
T |
3: 79,500,986 (GRCm39) |
C52F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,152,512 (GRCm39) |
I2318T |
possibly damaging |
Het |
| Rhpn2 |
G |
A |
7: 35,070,179 (GRCm39) |
D146N |
probably benign |
Het |
| Tspoap1 |
G |
T |
11: 87,671,081 (GRCm39) |
R1670L |
possibly damaging |
Het |
| Ttc22 |
G |
A |
4: 106,495,773 (GRCm39) |
V376M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,609,682 (GRCm39) |
Q1094* |
probably null |
Het |
| Zfp831 |
C |
T |
2: 174,485,631 (GRCm39) |
T102I |
possibly damaging |
Het |
| Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
probably benign |
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation