Incidental Mutation 'IGL02680:Aldh1a3'
ID |
303348 |
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 # |
IGL02680
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
66040640-66077225 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 66055895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 299
(V299F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015278]
[ENSMUST00000174209]
[ENSMUST00000174215]
|
AlphaFold |
Q9JHW9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015278
AA Change: V299F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000015278 Gene: ENSMUSG00000015134 AA Change: V299F
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: ENSMUST00000174209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174215
|
Predicted Effect |
unknown
Transcript: ENSMUST00000174701
AA Change: V190F
|
SMART Domains |
Protein: ENSMUSP00000133370 Gene: ENSMUSG00000015134 AA Change: V190F
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,635,949 (GRCm39) |
|
probably benign |
Het |
Ankar |
A |
G |
1: 72,709,275 (GRCm39) |
Y747H |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,180,000 (GRCm39) |
I107T |
probably damaging |
Het |
Atmin |
A |
T |
8: 117,684,236 (GRCm39) |
D632V |
probably damaging |
Het |
Atp5pd |
C |
A |
11: 115,306,840 (GRCm39) |
|
probably null |
Het |
Cadps2 |
T |
C |
6: 23,838,895 (GRCm39) |
E81G |
probably damaging |
Het |
Cep162 |
A |
G |
9: 87,128,797 (GRCm39) |
V67A |
possibly damaging |
Het |
Cfap100 |
C |
T |
6: 90,389,217 (GRCm39) |
V335I |
probably benign |
Het |
Dmtf1 |
A |
T |
5: 9,180,381 (GRCm39) |
D181E |
probably benign |
Het |
Efcab14 |
T |
A |
4: 115,597,615 (GRCm39) |
I70N |
probably damaging |
Het |
Frzb |
T |
C |
2: 80,254,970 (GRCm39) |
T189A |
possibly damaging |
Het |
Fstl3 |
G |
A |
10: 79,614,506 (GRCm39) |
W69* |
probably null |
Het |
Gjb3 |
C |
T |
4: 127,219,815 (GRCm39) |
C239Y |
probably damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Inpp5d |
A |
G |
1: 87,629,205 (GRCm39) |
T397A |
possibly damaging |
Het |
Myh11 |
G |
T |
16: 14,027,384 (GRCm39) |
H1283Q |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,420,256 (GRCm39) |
V1338A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,890,846 (GRCm39) |
S7229P |
unknown |
Het |
Or1l4b |
A |
T |
2: 37,036,427 (GRCm39) |
I68F |
probably damaging |
Het |
Pfkp |
G |
A |
13: 6,650,708 (GRCm39) |
|
probably benign |
Het |
Pop1 |
T |
A |
15: 34,502,619 (GRCm39) |
I102K |
probably damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,891,290 (GRCm39) |
M732V |
probably benign |
Het |
Rsc1a1 |
A |
G |
4: 141,412,408 (GRCm39) |
V168A |
probably benign |
Het |
Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
Scn10a |
T |
A |
9: 119,495,125 (GRCm39) |
Y372F |
probably damaging |
Het |
Slc35c2 |
G |
T |
2: 165,124,055 (GRCm39) |
T94K |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,119,728 (GRCm39) |
Y345H |
probably benign |
Het |
Slc5a11 |
T |
C |
7: 122,864,854 (GRCm39) |
S387P |
probably damaging |
Het |
Smg7 |
T |
A |
1: 152,721,145 (GRCm39) |
N727I |
probably benign |
Het |
Steap2 |
A |
T |
5: 5,723,474 (GRCm39) |
F469I |
probably benign |
Het |
Tex2 |
T |
A |
11: 106,459,058 (GRCm39) |
|
probably benign |
Het |
Tmem79 |
A |
G |
3: 88,240,270 (GRCm39) |
L226P |
probably damaging |
Het |
Tnfrsf14 |
G |
T |
4: 155,008,927 (GRCm39) |
C165* |
probably null |
Het |
Trim21 |
A |
G |
7: 102,208,870 (GRCm39) |
V283A |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,487,948 (GRCm39) |
M274L |
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 |
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 |
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 |
2015-04-16 |