Incidental Mutation 'IGL02009:Aldh1a3'
ID |
182271 |
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 # |
IGL02009
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
66040640-66077225 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66051789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 388
(D388G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015278]
|
AlphaFold |
Q9JHW9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015278
AA Change: D388G
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000015278 Gene: ENSMUSG00000015134 AA Change: D388G
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
C |
A |
18: 36,757,714 (GRCm39) |
Q803K |
probably damaging |
Het |
Arrdc3 |
A |
G |
13: 81,041,499 (GRCm39) |
N180S |
probably benign |
Het |
Atp11b |
G |
A |
3: 35,868,301 (GRCm39) |
E458K |
probably benign |
Het |
Bend6 |
G |
A |
1: 33,901,827 (GRCm39) |
A185V |
probably benign |
Het |
Ccdc121 |
C |
T |
5: 31,644,835 (GRCm39) |
T196I |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,450,670 (GRCm39) |
D632G |
probably damaging |
Het |
Clec4a1 |
A |
T |
6: 122,909,175 (GRCm39) |
H181L |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,085,224 (GRCm39) |
D387E |
probably benign |
Het |
Colq |
G |
A |
14: 31,257,599 (GRCm39) |
S256F |
possibly damaging |
Het |
Cracd |
A |
G |
5: 76,996,817 (GRCm39) |
T92A |
possibly damaging |
Het |
Ctdp1 |
A |
G |
18: 80,499,187 (GRCm39) |
Y252H |
probably damaging |
Het |
Cyp4f17 |
T |
A |
17: 32,743,854 (GRCm39) |
L344Q |
probably damaging |
Het |
Fam83b |
A |
G |
9: 76,399,604 (GRCm39) |
Y500H |
probably damaging |
Het |
Gapvd1 |
G |
A |
2: 34,594,203 (GRCm39) |
P949L |
probably damaging |
Het |
Gp5 |
A |
G |
16: 30,128,482 (GRCm39) |
I64T |
probably benign |
Het |
Il31ra |
A |
G |
13: 112,670,401 (GRCm39) |
V248A |
probably damaging |
Het |
Kdm4a |
C |
T |
4: 118,017,366 (GRCm39) |
A567T |
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,930,888 (GRCm39) |
|
probably null |
Het |
Lrrc8c |
G |
A |
5: 105,755,257 (GRCm39) |
R344H |
probably damaging |
Het |
Man1a |
G |
A |
10: 53,801,621 (GRCm39) |
L413F |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,591,978 (GRCm39) |
D67E |
probably damaging |
Het |
Mkln1 |
G |
A |
6: 31,426,455 (GRCm39) |
S243N |
probably benign |
Het |
Mmp19 |
T |
A |
10: 128,634,356 (GRCm39) |
M299K |
probably benign |
Het |
Msantd2 |
T |
C |
9: 37,434,686 (GRCm39) |
F309L |
possibly damaging |
Het |
Mstn |
A |
G |
1: 53,101,309 (GRCm39) |
|
probably benign |
Het |
Nat8f5 |
A |
C |
6: 85,794,408 (GRCm39) |
I184R |
probably benign |
Het |
Or5d43 |
C |
T |
2: 88,105,056 (GRCm39) |
M112I |
probably benign |
Het |
Or9m1b |
G |
T |
2: 87,837,117 (GRCm39) |
Q2K |
probably benign |
Het |
Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
Pms2 |
T |
A |
5: 143,862,582 (GRCm39) |
L563Q |
probably benign |
Het |
Rpap1 |
A |
G |
2: 119,610,594 (GRCm39) |
S162P |
possibly damaging |
Het |
Rpl3l |
A |
G |
17: 24,951,407 (GRCm39) |
K103E |
probably damaging |
Het |
Slc45a1 |
A |
T |
4: 150,722,447 (GRCm39) |
V479E |
probably damaging |
Het |
Themis2 |
A |
T |
4: 132,512,753 (GRCm39) |
L491Q |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,600,714 (GRCm39) |
I671L |
possibly damaging |
Het |
Vmn2r6 |
C |
A |
3: 64,445,323 (GRCm39) |
V712L |
possibly damaging |
Het |
Zzz3 |
A |
G |
3: 152,133,752 (GRCm39) |
D270G |
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 |
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 |
2014-05-07 |