Incidental Mutation 'IGL03090:Sdr16c5'
ID 418357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdr16c5
Ensembl Gene ENSMUSG00000028236
Gene Name short chain dehydrogenase/reductase family 16C, member 5
Synonyms Rdhe2, Scdr9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL03090
Quality Score
Status
Chromosome 4
Chromosomal Location 3995942-4019663 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 4006575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040925]
AlphaFold Q7TQA3
Predicted Effect probably benign
Transcript: ENSMUST00000040925
SMART Domains Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236

DomainStartEndE-ValueType
Pfam:KR 41 233 1.8e-17 PFAM
Pfam:adh_short 41 238 1.7e-48 PFAM
Pfam:adh_short_C2 47 228 1.3e-12 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 a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,247,965 (GRCm39) Y25C probably benign Het
Agap3 A C 5: 24,706,204 (GRCm39) T823P possibly damaging Het
Arap3 T C 18: 38,122,165 (GRCm39) E641G probably benign Het
Armc6 C T 8: 70,684,004 (GRCm39) R16Q probably benign Het
Asb15 T A 6: 24,567,185 (GRCm39) I502K possibly damaging Het
Atp8b3 T A 10: 80,366,438 (GRCm39) N275I probably damaging Het
Calr G A 8: 85,573,373 (GRCm39) P19S possibly damaging Het
Cdc6 T A 11: 98,810,122 (GRCm39) L477* probably null Het
Clba1 T C 12: 112,779,340 (GRCm39) probably null Het
Cnnm4 A G 1: 36,510,952 (GRCm39) D60G probably benign Het
Col12a1 G T 9: 79,585,652 (GRCm39) Q1242K probably damaging Het
Dusp18 T A 11: 3,847,466 (GRCm39) I152N probably damaging Het
Eef1akmt1 T C 14: 57,795,543 (GRCm39) T69A probably damaging Het
Efhb T C 17: 53,769,958 (GRCm39) Q117R probably benign Het
Fancd2 T A 6: 113,514,558 (GRCm39) probably null Het
Fat3 C T 9: 16,288,535 (GRCm39) W329* probably null Het
Frem3 A G 8: 81,344,858 (GRCm39) Y1727C probably benign Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gatb C A 3: 85,526,330 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,809 (GRCm39) S77T probably damaging Het
Gramd1c A T 16: 43,802,463 (GRCm39) D649E probably benign Het
Herc2 T A 7: 55,854,221 (GRCm39) L3745H probably damaging Het
Klk1b11 T A 7: 43,426,977 (GRCm39) M87K probably benign Het
Krt39 T G 11: 99,409,833 (GRCm39) probably benign Het
Lamc3 T A 2: 31,798,710 (GRCm39) probably benign Het
Lars2 T G 9: 123,285,025 (GRCm39) M786R probably damaging Het
Lmcd1 T A 6: 112,287,460 (GRCm39) S49T probably benign Het
Lrba T C 3: 86,680,448 (GRCm39) Y2689H probably benign Het
Map3k6 T C 4: 132,970,677 (GRCm39) V188A probably benign Het
Mbd6 A C 10: 127,123,013 (GRCm39) L49W probably damaging Het
Myo5a A T 9: 75,028,115 (GRCm39) Y100F probably damaging Het
Myo9a T A 9: 59,801,418 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,538,396 (GRCm39) D663G probably damaging Het
Nup214 A T 2: 31,908,254 (GRCm39) M1075L probably benign Het
Pkd1l3 C A 8: 110,382,165 (GRCm39) Y240* probably null Het
Pomk T A 8: 26,473,338 (GRCm39) N205I probably damaging Het
Setd1a A G 7: 127,385,672 (GRCm39) E250G possibly damaging Het
Slc26a6 A G 9: 108,737,890 (GRCm39) E541G probably benign Het
Slc4a3 A G 1: 75,531,661 (GRCm39) E876G probably benign Het
Srrm4 A G 5: 116,587,643 (GRCm39) probably benign Het
Stx12 A G 4: 132,590,540 (GRCm39) V119A probably benign Het
Tmem8b T A 4: 43,689,721 (GRCm39) S333T probably damaging Het
Usp31 T C 7: 121,278,753 (GRCm39) probably benign Het
Utp18 T C 11: 93,759,245 (GRCm39) R410G probably damaging Het
Vmn1r172 T C 7: 23,359,463 (GRCm39) I116T probably damaging Het
Vwa8 T A 14: 79,172,041 (GRCm39) L274Q possibly damaging Het
Wdfy3 A T 5: 102,014,142 (GRCm39) F2655I probably damaging Het
Zfp423 A T 8: 88,508,071 (GRCm39) Y737N probably damaging Het
Zyx C A 6: 42,334,276 (GRCm39) S500* probably null Het
Other mutations in Sdr16c5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Sdr16c5 APN 4 4,012,320 (GRCm39) splice site probably benign
IGL02230:Sdr16c5 APN 4 4,016,354 (GRCm39) missense probably damaging 0.99
PIT4802001:Sdr16c5 UTSW 4 4,012,423 (GRCm39) missense probably damaging 1.00
R0377:Sdr16c5 UTSW 4 4,005,546 (GRCm39) missense probably benign 0.03
R0610:Sdr16c5 UTSW 4 4,016,116 (GRCm39) missense possibly damaging 0.81
R2012:Sdr16c5 UTSW 4 3,996,244 (GRCm39) missense probably benign
R3735:Sdr16c5 UTSW 4 4,005,614 (GRCm39) missense probably benign
R3839:Sdr16c5 UTSW 4 4,006,601 (GRCm39) missense probably damaging 0.96
R3896:Sdr16c5 UTSW 4 4,006,609 (GRCm39) missense probably damaging 1.00
R4824:Sdr16c5 UTSW 4 4,016,216 (GRCm39) nonsense probably null
R5024:Sdr16c5 UTSW 4 4,010,365 (GRCm39) missense probably damaging 1.00
R5194:Sdr16c5 UTSW 4 4,006,663 (GRCm39) missense probably benign 0.16
R5395:Sdr16c5 UTSW 4 4,016,277 (GRCm39) missense probably benign 0.12
R6267:Sdr16c5 UTSW 4 4,016,162 (GRCm39) missense probably damaging 1.00
R6352:Sdr16c5 UTSW 4 4,016,421 (GRCm39) missense probably benign 0.00
R7076:Sdr16c5 UTSW 4 4,006,591 (GRCm39) missense probably damaging 0.99
R9147:Sdr16c5 UTSW 4 3,996,200 (GRCm39) missense probably benign
R9336:Sdr16c5 UTSW 4 4,016,108 (GRCm39) missense probably damaging 1.00
R9722:Sdr16c5 UTSW 4 4,005,595 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02