Incidental Mutation 'IGL01618:Aldh1a3'
ID 92475
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 essential (E-score: 0.614) question?
Stock # IGL01618
Quality Score
Status
Chromosome 7
Chromosomal Location 66040640-66077225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66058978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 239 (T239I)
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: T239I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015278
Gene: ENSMUSG00000015134
AA Change: T239I

DomainStartEndE-ValueType
Pfam:Aldedh 40 503 1.2e-188 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173756
Predicted Effect possibly damaging
Transcript: ENSMUST00000174209
AA Change: T120I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000174215
AA Change: T120I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000174701
SMART Domains Protein: ENSMUSP00000133370
Gene: ENSMUSG00000015134

DomainStartEndE-ValueType
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,261,265 (GRCm39) A74V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Anxa9 A G 3: 95,207,847 (GRCm39) probably null Het
Atp5me C A 5: 108,581,899 (GRCm39) K28N probably damaging Het
C9 T G 15: 6,489,149 (GRCm39) Y169D probably benign Het
Chat T A 14: 32,168,849 (GRCm39) probably null Het
Csmd3 C T 15: 47,874,479 (GRCm39) E706K probably benign Het
Ctbs A G 3: 146,160,867 (GRCm39) K145E probably benign Het
Dennd5a A G 7: 109,533,302 (GRCm39) M156T probably damaging Het
Dhx29 A G 13: 113,101,756 (GRCm39) Y1275C probably damaging Het
Dpp10 A T 1: 123,295,596 (GRCm39) F517Y probably benign Het
Dst G A 1: 34,227,990 (GRCm39) W1536* probably null Het
Galc T C 12: 98,218,340 (GRCm39) T171A possibly damaging Het
Gsap T C 5: 21,431,246 (GRCm39) I190T probably damaging Het
Hars2 A T 18: 36,922,630 (GRCm39) R388* probably null Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Itgbl1 T A 14: 124,065,211 (GRCm39) S122T possibly damaging Het
Jhy G T 9: 40,872,260 (GRCm39) T83K possibly damaging Het
Kcne4 A T 1: 78,795,525 (GRCm39) M58L possibly damaging Het
Lamc3 T A 2: 31,802,119 (GRCm39) I509N probably damaging Het
Lpar6 T C 14: 73,476,506 (GRCm39) S156P probably damaging Het
Man2c1 T C 9: 57,048,840 (GRCm39) probably benign Het
Marchf11 T C 15: 26,409,285 (GRCm39) I328T possibly damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Muc4 A T 16: 32,577,001 (GRCm39) Q2167L unknown Het
Myom1 T C 17: 71,406,988 (GRCm39) V1135A possibly damaging Het
Nectin1 C T 9: 43,702,555 (GRCm39) R101* probably null Het
Nxpe4 T C 9: 48,305,440 (GRCm39) S277P possibly damaging Het
Or1e35 T C 11: 73,798,303 (GRCm39) N5S probably damaging Het
Or2a52 T A 6: 43,144,637 (GRCm39) V215E probably damaging Het
Or52r1c G A 7: 102,735,582 (GRCm39) V281I probably benign Het
Or5b106 T A 19: 13,123,614 (GRCm39) K136N probably benign Het
Or5w19 A C 2: 87,698,488 (GRCm39) D51A probably damaging Het
Pappa2 G T 1: 158,684,948 (GRCm39) N730K probably damaging Het
Prepl A G 17: 85,373,709 (GRCm39) V586A probably damaging Het
Prrc2a T C 17: 35,368,529 (GRCm39) Y2098C probably damaging Het
Rdh16 G A 10: 127,637,176 (GRCm39) C37Y probably damaging Het
Rnd1 A T 15: 98,571,746 (GRCm39) M100K probably benign Het
Sema3c A G 5: 17,877,504 (GRCm39) N204D probably damaging Het
Susd4 A G 1: 182,686,026 (GRCm39) probably null Het
Taar7f G T 10: 23,926,239 (GRCm39) A278S possibly damaging Het
Tle4 T A 19: 14,522,178 (GRCm39) M122L probably benign Het
Trim9 C T 12: 70,295,125 (GRCm39) V662I probably benign Het
Vmn2r10 C A 5: 109,150,345 (GRCm39) C233F probably damaging Het
Vmn2r98 A C 17: 19,285,521 (GRCm39) T114P possibly damaging Het
Zfyve21 C T 12: 111,794,247 (GRCm39) probably benign Het
Zng1 T C 19: 24,918,140 (GRCm39) E210G possibly damaging Het
Other mutations in Aldh1a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-09