Incidental Mutation 'IGL00547:Sdr16c5'
ID 6722
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 # IGL00547
Quality Score
Status
Chromosome 4
Chromosomal Location 3995936-4019663 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 4012320 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126274
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,194,249 Q1345K possibly damaging Het
Arhgap40 T C 2: 158,538,626 probably benign Het
Atp8b4 A G 2: 126,358,897 C784R probably damaging Het
Bicral T C 17: 46,825,352 I311V probably benign Het
Cep290 G A 10: 100,510,708 R551H probably damaging Het
Chd9 A T 8: 91,005,798 M842L probably damaging Het
Cntn6 A G 6: 104,650,400 N65D probably damaging Het
Dnah8 C T 17: 30,815,703 Q4199* probably null Het
Ercc3 T C 18: 32,264,545 probably benign Het
Gm454 T C 5: 138,207,127 noncoding transcript Het
Gm7073 A T X: 60,436,559 D204E probably benign Het
Myo5a A G 9: 75,141,453 H286R probably benign Het
Nelfb C A 2: 25,204,288 M354I possibly damaging Het
Oas3 C T 5: 120,777,442 probably benign Het
Phldb2 A G 16: 45,825,535 S228P probably benign Het
Pls3 A T X: 75,794,268 I429N probably damaging Het
Ptprq C T 10: 107,718,541 V108M probably damaging Het
Rlf A G 4: 121,170,686 S138P possibly damaging Het
Rpn2 T C 2: 157,314,913 Y479H probably damaging Het
Slco6c1 A T 1: 97,087,949 N372K probably benign Het
Stag2 T C X: 42,247,015 I563T probably benign Het
Vrk1 T C 12: 106,058,581 S239P probably damaging Het
Other mutations in Sdr16c5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Sdr16c5 APN 4 4016354 missense probably damaging 0.99
IGL03090:Sdr16c5 APN 4 4006575 splice site probably benign
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 2012-04-20