Incidental Mutation 'R0408:Aldh1a3'
ID 40094
Institutional Source Beutler Lab
Gene Symbol Aldh1a3
Ensembl Gene ENSMUSG00000015134
Gene Name aldehyde dehydrogenase family 1, subfamily A3
Synonyms RALDH3, V1, ALDH6, retinaldehyde dehydrogenase 3
MMRRC Submission 038610-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.614) question?
Stock # R0408 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 66040640-66077225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66055798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 331 (V331A)
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: V331A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015278
Gene: ENSMUSG00000015134
AA Change: V331A

DomainStartEndE-ValueType
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: V222A
SMART Domains Protein: ENSMUSP00000133370
Gene: ENSMUSG00000015134
AA Change: V222A

DomainStartEndE-ValueType
Pfam:Aldedh 1 155 2.7e-55 PFAM
Pfam:Aldedh 151 277 1.7e-46 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,903,446 (GRCm39) N1032K probably damaging Het
Abcc8 A G 7: 45,756,457 (GRCm39) I1416T probably damaging Het
Aco2 T C 15: 81,797,319 (GRCm39) probably null Het
Akap13 C T 7: 75,396,544 (GRCm39) L2514F probably damaging Het
Arid3a T A 10: 79,786,667 (GRCm39) D473E probably benign Het
Atg9a A G 1: 75,161,939 (GRCm39) S536P probably damaging Het
Atxn7 A T 14: 14,100,317 (GRCm38) S668C probably damaging Het
Bcar3 A T 3: 122,302,033 (GRCm39) I243F probably damaging Het
Bend6 G A 1: 33,901,834 (GRCm39) P183S probably damaging Het
Bfsp2 A T 9: 103,357,299 (GRCm39) S43T probably benign Het
Camk4 G A 18: 33,262,845 (GRCm39) D136N probably damaging Het
Ceacam3 G T 7: 16,885,808 (GRCm39) probably benign Het
Chrm3 T C 13: 9,927,969 (GRCm39) I356V probably benign Het
Clec9a T A 6: 129,396,532 (GRCm39) I133N possibly damaging Het
Ctnnd2 T C 15: 30,634,823 (GRCm39) L157P probably damaging Het
Ddhd2 T C 8: 26,229,614 (GRCm39) probably null Het
Def8 T C 8: 124,186,656 (GRCm39) V436A probably damaging Het
Dipk1c T A 18: 84,738,488 (GRCm39) probably null Het
Dock10 T C 1: 80,518,193 (GRCm39) K1293R probably benign Het
Dync1h1 T G 12: 110,598,126 (GRCm39) D1772E probably benign Het
Ephx4 G T 5: 107,561,387 (GRCm39) G72C probably damaging Het
Fam136a T G 6: 86,343,707 (GRCm39) V68G possibly damaging Het
Fcgrt T C 7: 44,751,363 (GRCm39) E195G probably damaging Het
Fut9 T A 4: 25,620,319 (GRCm39) Q165L possibly damaging Het
Glb1l T C 1: 75,185,479 (GRCm39) Y77C probably damaging Het
Gpr26 T C 7: 131,569,249 (GRCm39) V198A possibly damaging Het
Gpr26 C A 7: 131,576,001 (GRCm39) probably null Het
Gsdma3 A C 11: 98,526,164 (GRCm39) E296A probably benign Het
Hyou1 G T 9: 44,295,989 (GRCm39) G385W probably damaging Het
Il17rb T C 14: 29,718,637 (GRCm39) S482G probably benign Het
Itgb4 A T 11: 115,898,428 (GRCm39) R1715W probably damaging Het
Jak2 A G 19: 29,263,717 (GRCm39) S411G probably benign Het
Kdm3a C T 6: 71,588,663 (GRCm39) D449N probably benign Het
Kifbp T C 10: 62,401,832 (GRCm39) I23M probably benign Het
Klhl26 T C 8: 70,905,130 (GRCm39) D226G probably damaging Het
Klra1 T A 6: 130,354,737 (GRCm39) I94F probably benign Het
Lama3 A G 18: 12,589,894 (GRCm39) D808G probably benign Het
Lrp1b C T 2: 40,567,603 (GRCm39) M272I probably damaging Het
Masp2 A G 4: 148,690,496 (GRCm39) D251G probably benign Het
Mob3b T C 4: 35,083,991 (GRCm39) D66G probably damaging Het
Myo7a T C 7: 97,705,988 (GRCm39) Q1863R probably damaging Het
Naa12 T C 18: 80,255,029 (GRCm39) S108P probably damaging Het
Or10al3 G A 17: 38,012,190 (GRCm39) V210I probably benign Het
Or4c103 A T 2: 88,513,999 (GRCm39) F26I probably benign Het
Pdgfd T A 9: 6,293,928 (GRCm39) Y167* probably null Het
Pfas A G 11: 68,891,931 (GRCm39) probably null Het
Plin1 T A 7: 79,372,394 (GRCm39) T393S probably damaging Het
Prdm15 A T 16: 97,636,986 (GRCm39) N110K possibly damaging Het
Prune2 T A 19: 17,099,674 (GRCm39) V1726D probably benign Het
Sestd1 T A 2: 77,022,137 (GRCm39) D518V probably damaging Het
Setd2 C T 9: 110,423,310 (GRCm39) P344S probably damaging Het
Slc22a1 A T 17: 12,875,828 (GRCm39) I462N probably damaging Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Tbc1d14 G T 5: 36,728,643 (GRCm39) T241K possibly damaging Het
Uaca T C 9: 60,779,141 (GRCm39) L1176P possibly damaging Het
Ube2g1 G C 11: 72,563,791 (GRCm39) G52A probably damaging Het
Utrn A G 10: 12,259,934 (GRCm39) *957R probably null Het
Vmn2r125 A T 4: 156,703,153 (GRCm39) E177V probably damaging Het
Vmn2r86 A G 10: 130,282,723 (GRCm39) F631S probably damaging Het
Zc3h13 T A 14: 75,529,626 (GRCm39) C42* probably null Het
Zc3h14 T G 12: 98,730,082 (GRCm39) V13G probably damaging Het
Zfat A T 15: 68,052,141 (GRCm39) V551D probably benign Het
Zfp618 C T 4: 63,004,809 (GRCm39) R70W probably damaging Het
Other mutations in Aldh1a3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- AATCCTGTCTGTGACCATGCTTCTG -3'
(R):5'- ACATTAAAGGCACCAAGAGAGCCTG -3'

Sequencing Primer
(F):5'- GACCATGCTTCTGCCTAGC -3'
(R):5'- CTGAAATGCAGTCATCTGGGC -3'
Posted On 2013-05-23