Incidental Mutation 'IGL01474:Rdh9'
ID 88367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh9
Ensembl Gene ENSMUSG00000056148
Gene Name retinol dehydrogenase 9
Synonyms Crad3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01474
Quality Score
Status
Chromosome 10
Chromosomal Location 127612274-127628566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127626814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 289 (L289P)
Ref Sequence ENSEMBL: ENSMUSP00000116574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052652] [ENSMUST00000128247]
AlphaFold Q8K5C8
Predicted Effect possibly damaging
Transcript: ENSMUST00000052652
AA Change: L289P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057732
Gene: ENSMUSG00000056148
AA Change: L289P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 220 3.1e-41 PFAM
Pfam:DUF1776 43 303 5.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128133
Predicted Effect probably damaging
Transcript: ENSMUST00000128247
AA Change: L289P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: L289P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 195 1.7e-23 PFAM
Pfam:DUF1776 43 303 3.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy, with no apparent alterations in tissue retinoid and serum dihydrotestosterone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A T 13: 91,920,902 (GRCm39) K336I possibly damaging Het
Acsbg2 A G 17: 57,168,621 (GRCm39) I166T possibly damaging Het
Adrm1b G T 3: 92,335,650 (GRCm39) Q351K probably damaging Het
Bpifc T A 10: 85,836,503 (GRCm39) M1L probably damaging Het
Ccnb2 T A 9: 70,326,305 (GRCm39) N44I probably benign Het
Cdc73 C T 1: 143,547,070 (GRCm39) V276M probably benign Het
Cnot7 A G 8: 40,960,490 (GRCm39) probably null Het
Col11a1 T A 3: 114,010,783 (GRCm39) probably benign Het
Coro1c T C 5: 114,020,216 (GRCm39) probably benign Het
Crocc A G 4: 140,762,703 (GRCm39) probably benign Het
Dync2h1 A T 9: 7,102,493 (GRCm39) Y396N probably benign Het
Gm2888 T A 14: 3,032,041 (GRCm38) D116E probably damaging Het
Gm29326 A T 7: 29,262,014 (GRCm39) noncoding transcript Het
Greb1 A G 12: 16,734,502 (GRCm39) V1496A probably benign Het
H2bc18 A G 3: 96,177,125 (GRCm39) probably benign Het
Hdac7 A G 15: 97,695,820 (GRCm39) probably null Het
Hectd4 A G 5: 121,474,712 (GRCm39) T2778A possibly damaging Het
Hivep2 A T 10: 14,019,406 (GRCm39) H2059L probably damaging Het
Ift88 A T 14: 57,715,531 (GRCm39) I525F probably benign Het
Irag1 A T 7: 110,470,640 (GRCm39) S898T possibly damaging Het
Itga5 G A 15: 103,262,697 (GRCm39) Q324* probably null Het
Klhl14 T G 18: 21,690,911 (GRCm39) H513P probably damaging Het
Lama5 A T 2: 179,838,363 (GRCm39) D837E probably damaging Het
Muc6 C A 7: 141,237,572 (GRCm39) C215F probably damaging Het
Myh15 A G 16: 48,952,461 (GRCm39) K844E probably damaging Het
Neb A G 2: 52,218,917 (GRCm39) V31A unknown Het
Nipbl A G 15: 8,340,693 (GRCm39) I2009T possibly damaging Het
Or2ag18 A G 7: 106,405,147 (GRCm39) I174T probably benign Het
Piwil2 T C 14: 70,635,667 (GRCm39) R536G probably benign Het
Pld3 A G 7: 27,232,044 (GRCm39) V412A probably damaging Het
Prkaa2 A C 4: 104,906,529 (GRCm39) probably null Het
Rusc2 C T 4: 43,416,434 (GRCm39) S580L probably damaging Het
Sidt2 A G 9: 45,858,280 (GRCm39) probably null Het
Slc18b1 A T 10: 23,679,748 (GRCm39) K92N probably benign Het
Slc20a2 G A 8: 23,025,573 (GRCm39) V92M possibly damaging Het
Slc4a11 A T 2: 130,527,464 (GRCm39) F644I probably damaging Het
Spata31d1d A T 13: 59,878,029 (GRCm39) probably benign Het
Spef2 T C 15: 9,663,244 (GRCm39) M846V probably benign Het
Syncrip T C 9: 88,362,800 (GRCm39) T3A probably benign Het
Other mutations in Rdh9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Rdh9 APN 10 127,626,853 (GRCm39) missense probably benign 0.00
IGL01348:Rdh9 APN 10 127,612,661 (GRCm39) missense probably benign 0.07
R0659:Rdh9 UTSW 10 127,612,444 (GRCm39) missense possibly damaging 0.52
R4729:Rdh9 UTSW 10 127,612,621 (GRCm39) missense probably benign 0.02
R6139:Rdh9 UTSW 10 127,612,606 (GRCm39) missense possibly damaging 0.94
R6279:Rdh9 UTSW 10 127,612,627 (GRCm39) missense probably benign
R7870:Rdh9 UTSW 10 127,612,566 (GRCm39) missense probably benign
Posted On 2013-11-18