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 retinaldehyde dehydrogenase 3, V1, RALDH3, ALDH6
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.444) question?
Stock # IGL01618
Quality Score
Chromosome 7
Chromosomal Location 66390890-66427517 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66409230 bp (GRCm38)
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

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

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: 55,272,833 A74V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Anxa9 A G 3: 95,300,536 probably null Het
Atp5k C A 5: 108,434,033 K28N probably damaging Het
C9 T G 15: 6,459,668 Y169D probably benign Het
Cbwd1 T C 19: 24,940,776 E210G possibly damaging Het
Chat T A 14: 32,446,892 probably null Het
Csmd3 C T 15: 48,011,083 E706K probably benign Het
Ctbs A G 3: 146,455,112 K145E probably benign Het
Dennd5a A G 7: 109,934,095 M156T probably damaging Het
Dhx29 A G 13: 112,965,222 Y1275C probably damaging Het
Dpp10 A T 1: 123,367,867 F517Y probably benign Het
Dst G A 1: 34,188,909 W1536* probably null Het
Galc T C 12: 98,252,081 T171A possibly damaging Het
Gsap T C 5: 21,226,248 I190T probably damaging Het
Hars2 A T 18: 36,789,577 R388* probably null Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Itgbl1 T A 14: 123,827,799 S122T possibly damaging Het
Jhy G T 9: 40,960,964 T83K possibly damaging Het
Kcne4 A T 1: 78,817,808 M58L possibly damaging Het
Lamc3 T A 2: 31,912,107 I509N probably damaging Het
Lpar6 T C 14: 73,239,066 S156P probably damaging Het
Man2c1 T C 9: 57,141,556 probably benign Het
March11 T C 15: 26,409,199 I328T possibly damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Muc4 A T 16: 32,756,627 Q2167L unknown Het
Myom1 T C 17: 71,099,993 V1135A possibly damaging Het
Nectin1 C T 9: 43,791,258 R101* probably null Het
Nxpe4 T C 9: 48,394,140 S277P possibly damaging Het
Olfr1152 A C 2: 87,868,144 D51A probably damaging Het
Olfr1459 T A 19: 13,146,250 K136N probably benign Het
Olfr395 T C 11: 73,907,477 N5S probably damaging Het
Olfr437 T A 6: 43,167,703 V215E probably damaging Het
Olfr584 G A 7: 103,086,375 V281I probably benign Het
Pappa2 G T 1: 158,857,378 N730K probably damaging Het
Prepl A G 17: 85,066,281 V586A probably damaging Het
Prrc2a T C 17: 35,149,553 Y2098C probably damaging Het
Rdh16 G A 10: 127,801,307 C37Y probably damaging Het
Rnd1 A T 15: 98,673,865 M100K probably benign Het
Sema3c A G 5: 17,672,506 N204D probably damaging Het
Susd4 A G 1: 182,858,461 probably null Het
Taar7f G T 10: 24,050,341 A278S possibly damaging Het
Tle4 T A 19: 14,544,814 M122L probably benign Het
Trim9 C T 12: 70,248,351 V662I probably benign Het
Vmn2r10 C A 5: 109,002,479 C233F probably damaging Het
Vmn2r98 A C 17: 19,065,259 T114P possibly damaging Het
Zfyve21 C T 12: 111,827,813 probably benign Het
Other mutations in Aldh1a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02897:Aldh1a3 APN 7 66427327 missense probably benign 0.02
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
R9155:Aldh1a3 UTSW 7 66409119 nonsense probably null
R9440:Aldh1a3 UTSW 7 66419244 critical splice acceptor site probably null
Posted On 2013-12-09