Incidental Mutation 'IGL02867:Rdh11'
ID 362358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh11
Ensembl Gene ENSMUSG00000066441
Gene Name retinol dehydrogenase 11
Synonyms Psdr1, Mdt1, Arsdr1, 2610319N22Rik, M42C60
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # IGL02867
Quality Score
Status
Chromosome 12
Chromosomal Location 79221007-79238629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79235828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000124066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085254] [ENSMUST00000159500] [ENSMUST00000161204]
AlphaFold Q9QYF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000085254
AA Change: V24A

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082352
Gene: ENSMUSG00000066441
AA Change: V24A

DomainStartEndE-ValueType
Pfam:adh_short 23 201 1.3e-23 PFAM
Pfam:KR 24 190 1.6e-10 PFAM
Pfam:Epimerase 25 227 1.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159500
Predicted Effect possibly damaging
Transcript: ENSMUST00000161204
AA Change: V40A

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124066
Gene: ENSMUSG00000066441
AA Change: V40A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:adh_short 39 244 1.7e-36 PFAM
Pfam:KR 40 199 2.2e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit delayed dark adaptation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T A 5: 24,776,149 (GRCm39) Y310F probably benign Het
Adarb1 C T 10: 77,149,375 (GRCm39) V371I probably benign Het
Antxr2 G T 5: 98,125,509 (GRCm39) H249Q probably benign Het
Arel1 A T 12: 84,981,097 (GRCm39) N303K probably benign Het
Bloc1s6 T C 2: 122,584,604 (GRCm39) Y60H probably damaging Het
Ccdc125 A T 13: 100,820,790 (GRCm39) probably benign Het
Cxcl16 A T 11: 70,349,892 (GRCm39) Y45N possibly damaging Het
Dnajb3 T A 1: 88,133,249 (GRCm39) Q51L probably benign Het
Ear10 A G 14: 44,160,726 (GRCm39) F34L probably damaging Het
Fgf11 A G 11: 69,690,498 (GRCm39) S100P possibly damaging Het
Fpgs G A 2: 32,575,891 (GRCm39) probably benign Het
Fyb1 A T 15: 6,609,527 (GRCm39) Q33H probably damaging Het
Ints3 G T 3: 90,300,143 (GRCm39) H925N probably damaging Het
Krt16 T C 11: 100,138,402 (GRCm39) K249E probably damaging Het
Lrp2 A T 2: 69,382,794 (GRCm39) S30R possibly damaging Het
Naa35 T C 13: 59,756,668 (GRCm39) probably benign Het
Or11g27 A G 14: 50,770,970 (GRCm39) I34V probably benign Het
Or1e22 A G 11: 73,376,817 (GRCm39) Y278H probably damaging Het
Or8g2b A G 9: 39,751,533 (GRCm39) M268V probably benign Het
Osbpl6 A G 2: 76,426,214 (GRCm39) probably benign Het
Pramel6 A T 2: 87,340,736 (GRCm39) Q356L probably damaging Het
Prima1 A G 12: 103,163,575 (GRCm39) V132A probably benign Het
Psme1 A G 14: 55,817,383 (GRCm39) probably benign Het
Rin1 C T 19: 5,103,198 (GRCm39) R485C probably damaging Het
Rnf40 C A 7: 127,190,601 (GRCm39) S255* probably null Het
Spata24 C A 18: 35,789,805 (GRCm39) R194L probably benign Het
Spata31h1 C T 10: 82,119,654 (GRCm39) S482N probably damaging Het
Tas1r1 A T 4: 152,112,735 (GRCm39) S773T probably damaging Het
Trdv5 G T 14: 54,386,429 (GRCm39) probably benign Het
Trpc3 A C 3: 36,694,850 (GRCm39) D701E probably benign Het
Vim A G 2: 13,585,491 (GRCm39) R424G probably damaging Het
Vmn1r216 A C 13: 23,283,649 (GRCm39) T111P probably damaging Het
Zbtb26 A C 2: 37,326,261 (GRCm39) N247K probably benign Het
Zfp629 T G 7: 127,209,203 (GRCm39) probably benign Het
Other mutations in Rdh11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Rdh11 APN 12 79,233,187 (GRCm39) critical splice donor site probably null
IGL02642:Rdh11 APN 12 79,232,110 (GRCm39) splice site probably benign
R2085:Rdh11 UTSW 12 79,229,556 (GRCm39) missense possibly damaging 0.87
R2115:Rdh11 UTSW 12 79,222,996 (GRCm39) missense probably benign
R4963:Rdh11 UTSW 12 79,235,380 (GRCm39) missense probably benign 0.31
R5458:Rdh11 UTSW 12 79,235,279 (GRCm39) missense probably benign 0.11
R6090:Rdh11 UTSW 12 79,235,838 (GRCm39) missense probably benign 0.05
R6519:Rdh11 UTSW 12 79,229,589 (GRCm39) missense probably damaging 1.00
R7586:Rdh11 UTSW 12 79,231,957 (GRCm39) missense probably damaging 1.00
R8219:Rdh11 UTSW 12 79,235,880 (GRCm39) missense probably benign 0.05
R8719:Rdh11 UTSW 12 79,229,574 (GRCm39) missense probably benign
R9059:Rdh11 UTSW 12 79,238,713 (GRCm39) start gained probably benign
Posted On 2015-12-18