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
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL03090
Quality Score
Status
Chromosome 4
Chromosomal Location 3995936-4019663 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 4006575 bp (GRCm38)
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: 40,794,928 Y25C probably benign Het
Agap3 A C 5: 24,501,206 T823P possibly damaging Het
Arap3 T C 18: 37,989,112 E641G probably benign Het
Armc6 C T 8: 70,231,354 R16Q probably benign Het
Asb15 T A 6: 24,567,186 I502K possibly damaging Het
Atp8b3 T A 10: 80,530,604 N275I probably damaging Het
BC022687 T C 12: 112,815,720 probably null Het
Calr G A 8: 84,846,744 P19S possibly damaging Het
Cdc6 T A 11: 98,919,296 L477* probably null Het
Cnnm4 A G 1: 36,471,871 D60G probably benign Het
Col12a1 G T 9: 79,678,370 Q1242K probably damaging Het
Dusp18 T A 11: 3,897,466 I152N probably damaging Het
Eef1akmt1 T C 14: 57,558,086 T69A probably damaging Het
Efhb T C 17: 53,462,930 Q117R probably benign Het
Fancd2 T A 6: 113,537,597 probably null Het
Fat3 C T 9: 16,377,239 W329* probably null Het
Frem3 A G 8: 80,618,229 Y1727C probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gatb C A 3: 85,619,023 probably benign Het
Gpr33 A T 12: 52,024,026 S77T probably damaging Het
Gramd1c A T 16: 43,982,100 D649E probably benign Het
Herc2 T A 7: 56,204,473 L3745H probably damaging Het
Klk11 T A 7: 43,777,553 M87K probably benign Het
Krt39 T G 11: 99,519,007 probably benign Het
Lamc3 T A 2: 31,908,698 probably benign Het
Lars2 T G 9: 123,455,960 M786R probably damaging Het
Lmcd1 T A 6: 112,310,499 S49T probably benign Het
Lrba T C 3: 86,773,141 Y2689H probably benign Het
Map3k6 T C 4: 133,243,366 V188A probably benign Het
Mbd6 A C 10: 127,287,144 L49W probably damaging Het
Myo5a A T 9: 75,120,833 Y100F probably damaging Het
Myo9a T A 9: 59,894,135 probably benign Het
Ncoa7 T C 10: 30,662,400 D663G probably damaging Het
Nup214 A T 2: 32,018,242 M1075L probably benign Het
Pkd1l3 C A 8: 109,655,533 Y240* probably null Het
Pomk T A 8: 25,983,310 N205I probably damaging Het
Setd1a A G 7: 127,786,500 E250G possibly damaging Het
Slc26a6 A G 9: 108,860,691 E541G probably benign Het
Slc4a3 A G 1: 75,555,017 E876G probably benign Het
Srrm4 A G 5: 116,449,584 probably benign Het
Stx12 A G 4: 132,863,229 V119A probably benign Het
Tmem8b T A 4: 43,689,721 S333T probably damaging Het
Usp31 T C 7: 121,679,530 probably benign Het
Utp18 T C 11: 93,868,419 R410G probably damaging Het
Vmn1r172 T C 7: 23,660,038 I116T probably damaging Het
Vwa8 T A 14: 78,934,601 L274Q possibly damaging Het
Wdfy3 A T 5: 101,866,276 F2655I probably damaging Het
Zfp423 A T 8: 87,781,443 Y737N probably damaging Het
Zyx C A 6: 42,357,342 S500* probably null Het
Other mutations in Sdr16c5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Sdr16c5 APN 4 4012320 splice site probably benign
IGL02230:Sdr16c5 APN 4 4016354 missense probably damaging 0.99
PIT4802001:Sdr16c5 UTSW 4 4012423 missense probably damaging 1.00
R0377:Sdr16c5 UTSW 4 4005546 missense probably benign 0.03
R0610:Sdr16c5 UTSW 4 4016116 missense possibly damaging 0.81
R2012:Sdr16c5 UTSW 4 3996244 missense probably benign
R3735:Sdr16c5 UTSW 4 4005614 missense probably benign
R3839:Sdr16c5 UTSW 4 4006601 missense probably damaging 0.96
R3896:Sdr16c5 UTSW 4 4006609 missense probably damaging 1.00
R4824:Sdr16c5 UTSW 4 4016216 nonsense probably null
R5024:Sdr16c5 UTSW 4 4010365 missense probably damaging 1.00
R5194:Sdr16c5 UTSW 4 4006663 missense probably benign 0.16
R5395:Sdr16c5 UTSW 4 4016277 missense probably benign 0.12
R6267:Sdr16c5 UTSW 4 4016162 missense probably damaging 1.00
R6352:Sdr16c5 UTSW 4 4016421 missense probably benign 0.00
R7076:Sdr16c5 UTSW 4 4006591 missense probably damaging 0.99
R9147:Sdr16c5 UTSW 4 3996200 missense probably benign
R9336:Sdr16c5 UTSW 4 4016108 missense probably damaging 1.00
Posted On 2016-08-02