Incidental Mutation 'IGL02897:Aldh1a3'
ID363433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh1a3
Ensembl Gene ENSMUSG00000015134
Gene Namealdehyde dehydrogenase family 1, subfamily A3
Synonymsretinaldehyde dehydrogenase 3, V1, RALDH3, ALDH6
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.510) question?
Stock #IGL02897
Quality Score
Status
Chromosome7
Chromosomal Location66390890-66427517 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66427327 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,517,308 E108D probably benign Het
Abca7 T C 10: 80,001,592 F437L probably damaging Het
Abi2 T C 1: 60,448,194 V134A probably damaging Het
Ablim2 T C 5: 35,833,126 I75T probably damaging Het
Bptf T C 11: 107,047,121 K2715E probably damaging Het
Cd163 A T 6: 124,325,527 S1017C probably damaging Het
Cdc14b T C 13: 64,247,253 I76V probably benign Het
Cers6 T A 2: 68,934,533 C63* probably null Het
Chd9 T C 8: 90,933,868 probably benign Het
Col19a1 T C 1: 24,534,098 N198D unknown Het
Cse1l T C 2: 166,919,708 C61R possibly damaging Het
Cubn T C 2: 13,318,312 T2815A possibly damaging Het
Cyp19a1 G T 9: 54,166,911 T453K possibly damaging Het
Dlg1 G T 16: 31,771,856 probably null Het
Dpp7 T C 2: 25,353,672 Y339C probably damaging Het
Dtl T C 1: 191,541,544 probably benign Het
Gm5591 T C 7: 38,520,042 E469G probably damaging Het
Ing3 T A 6: 21,969,326 V202E probably benign Het
Inpp5j A G 11: 3,500,619 L578P probably damaging Het
Irak4 A G 15: 94,553,991 N155S probably benign Het
Kif2b A T 11: 91,576,219 S413T probably damaging Het
L3mbtl1 A T 2: 162,965,772 Y490F probably damaging Het
Med17 T G 9: 15,267,534 D447A probably damaging Het
Med26 T C 8: 72,496,521 T245A probably benign Het
Nlrc3 A T 16: 3,964,074 S490R possibly damaging Het
Nme5 A G 18: 34,569,903 probably benign Het
Olfr611 T C 7: 103,518,130 R85G probably benign Het
Rnf10 G T 5: 115,248,641 Q530K probably benign Het
Robo3 A T 9: 37,427,502 Y281* probably null Het
Sclt1 T C 3: 41,675,387 I330V probably benign Het
Smim14 A T 5: 65,450,396 probably benign Het
Trank1 T G 9: 111,367,517 H1536Q probably damaging Het
Tspan18 A G 2: 93,220,173 L35P possibly damaging Het
Ubr4 G A 4: 139,472,508 V4568M probably damaging Het
Vmn1r63 A G 7: 5,802,745 V296A possibly damaging Het
Other mutations in Aldh1a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Aldh1a3 APN 7 66409230 missense probably damaging 1.00
IGL01718:Aldh1a3 APN 7 66400205 missense possibly damaging 0.50
IGL02009:Aldh1a3 APN 7 66402041 missense probably benign 0.36
IGL02041:Aldh1a3 APN 7 66407831 missense probably damaging 1.00
IGL02680:Aldh1a3 APN 7 66406147 missense probably damaging 1.00
R0279:Aldh1a3 UTSW 7 66409252 missense probably benign 0.04
R0408:Aldh1a3 UTSW 7 66406050 missense probably damaging 1.00
R0633:Aldh1a3 UTSW 7 66400222 missense probably damaging 1.00
R0689:Aldh1a3 UTSW 7 66402005 missense probably benign 0.02
R0834:Aldh1a3 UTSW 7 66412910 missense probably benign 0.42
R1968:Aldh1a3 UTSW 7 66411500 critical splice donor site probably null
R2207:Aldh1a3 UTSW 7 66406021 missense probably damaging 1.00
R2519:Aldh1a3 UTSW 7 66422299 missense probably benign 0.00
R4529:Aldh1a3 UTSW 7 66401994 missense probably benign
R4975:Aldh1a3 UTSW 7 66419179 missense possibly damaging 0.78
R5138:Aldh1a3 UTSW 7 66407852 missense probably damaging 1.00
R5761:Aldh1a3 UTSW 7 66419179 missense probably damaging 0.96
R7186:Aldh1a3 UTSW 7 66406083 missense probably damaging 1.00
Posted On2015-12-18