Incidental Mutation 'R7186:Aldh1a3'
ID 559294
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 045271-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.459) question?
Stock # R7186 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 66040640-66077225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66055831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 320 (V320A)
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: V320A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015278
Gene: ENSMUSG00000015134
AA Change: V320A

DomainStartEndE-ValueType
Pfam:Aldedh 40 503 1.2e-188 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174209
Predicted Effect probably benign
Transcript: ENSMUST00000174215
Predicted Effect
SMART Domains Protein: ENSMUSP00000133370
Gene: ENSMUSG00000015134
AA Change: V211A

DomainStartEndE-ValueType
Pfam:Aldedh 1 155 2.7e-55 PFAM
Pfam:Aldedh 151 277 1.7e-46 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,910,100 (GRCm39) I778F possibly damaging Het
Adam39 A T 8: 41,279,349 (GRCm39) N580I probably damaging Het
Adamts20 A G 15: 94,220,689 (GRCm39) S1415P possibly damaging Het
Adcy2 A G 13: 68,816,758 (GRCm39) Y743H probably damaging Het
Arid1a TGCCGCCGCCGCCGCCGCCGCCG TGCCGCCGCCGCCGCCGCCG 4: 133,480,544 (GRCm39) Het
Art5 G T 7: 101,746,536 (GRCm39) R268S probably benign Het
Bfar T C 16: 13,510,371 (GRCm39) V238A probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdc23 G A 18: 34,770,175 (GRCm39) T408I probably damaging Het
Cdh24 G C 14: 54,870,949 (GRCm39) P522A probably benign Het
Clk4 T C 11: 51,159,607 (GRCm39) V61A probably benign Het
Clrn2 T C 5: 45,611,115 (GRCm39) probably benign Het
Cyp2j8 T C 4: 96,363,787 (GRCm39) D292G probably benign Het
Deaf1 T C 7: 140,907,383 (GRCm39) E34G probably benign Het
Elovl7 A G 13: 108,408,382 (GRCm39) E127G probably damaging Het
Flg A T 3: 93,187,252 (GRCm39) R235* probably null Het
Gbp3 G A 3: 142,269,923 (GRCm39) V77M probably damaging Het
Gda A T 19: 21,372,569 (GRCm39) F450I probably benign Het
Gipc1 A G 8: 84,390,762 (GRCm39) E289G possibly damaging Het
Gm4924 T C 10: 82,214,778 (GRCm39) Y859H unknown Het
Gpatch1 A T 7: 34,994,738 (GRCm39) D509E possibly damaging Het
Gpbp1 A G 13: 111,577,233 (GRCm39) V219A possibly damaging Het
Gpr107 A T 2: 31,042,371 (GRCm39) M1L possibly damaging Het
Heg1 T C 16: 33,552,034 (GRCm39) F1003L probably damaging Het
Hivep1 A G 13: 42,309,814 (GRCm39) T685A probably benign Het
Hpse T A 5: 100,843,395 (GRCm39) D259V probably damaging Het
Ido2 A T 8: 25,040,826 (GRCm39) probably null Het
Ighv14-1 T C 12: 113,895,649 (GRCm39) D92G probably damaging Het
Krt87 A T 15: 101,385,083 (GRCm39) probably null Het
Lsp1 T C 7: 142,044,089 (GRCm39) V278A probably damaging Het
Lurap1l C A 4: 80,829,747 (GRCm39) S52R possibly damaging Het
Luzp2 A G 7: 54,485,577 (GRCm39) probably benign Het
Micall1 A G 15: 79,009,575 (GRCm39) E399G unknown Het
Ncapd2 A G 6: 125,163,119 (GRCm39) S130P possibly damaging Het
Nrg2 A G 18: 36,178,973 (GRCm39) V321A probably benign Het
Nuf2 T C 1: 169,352,954 (GRCm39) H17R probably damaging Het
Numb A G 12: 83,842,920 (GRCm39) W419R probably damaging Het
Or4d2b G A 11: 87,780,591 (GRCm39) L44F possibly damaging Het
Or4f62 T A 2: 111,986,507 (GRCm39) D70E probably damaging Het
Or56a3b A G 7: 104,771,473 (GRCm39) R270G probably benign Het
Pde6a T A 18: 61,353,678 (GRCm39) M1K probably null Het
Pknox1 C T 17: 31,822,172 (GRCm39) A313V probably damaging Het
Ppp2ca T A 11: 52,010,080 (GRCm39) N229K possibly damaging Het
Ptgdr A T 14: 45,096,401 (GRCm39) C104S probably damaging Het
Ralgapa2 C A 2: 146,230,406 (GRCm39) probably null Het
Rfx5 G T 3: 94,865,659 (GRCm39) K319N probably benign Het
Rnase10 A T 14: 51,247,242 (GRCm39) T207S probably damaging Het
Rreb1 A G 13: 38,125,608 (GRCm39) T1305A probably benign Het
Rrp12 C A 19: 41,859,744 (GRCm39) probably null Het
Rubcnl A C 14: 75,269,453 (GRCm39) D37A possibly damaging Het
Saxo5 T C 8: 3,529,049 (GRCm39) F208S probably damaging Het
Scn9a T C 2: 66,364,567 (GRCm39) Y802C probably damaging Het
Sec16a A T 2: 26,330,715 (GRCm39) Y433* probably null Het
Sgk3 T A 1: 9,956,227 (GRCm39) V331D probably benign Het
Sirt7 C T 11: 120,511,311 (GRCm39) R280H probably benign Het
Snx13 G C 12: 35,142,912 (GRCm39) R252S probably damaging Het
Stk32b G T 5: 37,624,125 (GRCm39) D207E probably damaging Het
Sult2a7 C T 7: 14,203,978 (GRCm39) V262I not run Het
Tcstv7b C T 13: 120,702,587 (GRCm39) L128F probably damaging Het
Tent5b T A 4: 133,213,518 (GRCm39) F130I probably damaging Het
Tmem33 G C 5: 67,421,130 (GRCm39) V35L possibly damaging Het
Uba1y A G Y: 825,537 (GRCm39) I300V probably benign Het
Usp32 A T 11: 84,942,060 (GRCm39) V344E probably benign Het
Usp50 C T 2: 126,625,218 (GRCm39) probably benign Het
Vmn1r238 A C 18: 3,122,661 (GRCm39) F251C probably damaging Het
Vmn2r74 A T 7: 85,601,150 (GRCm39) Y829* probably null Het
Wars1 A G 12: 108,846,982 (GRCm39) F141L probably damaging Het
Zfp879 A G 11: 50,724,621 (GRCm39) V145A probably benign Het
Zfp934 A T 13: 62,640,204 (GRCm39) V56D probably benign 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
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
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'- AAGCCAGTTCTTTTCCTTGGAGG -3'
(R):5'- AAATGCAGTCATCTGGGCCC -3'

Sequencing Primer
(F):5'- GGAATCCTGTCTGTGACCATGC -3'
(R):5'- AGTCATCTGGGCCCTGTTTTC -3'
Posted On 2019-06-26