Incidental Mutation 'IGL02749:Rdh13'
ID306187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh13
Ensembl Gene ENSMUSG00000008435
Gene Nameretinol dehydrogenase 13 (all-trans and 9-cis)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02749
Quality Score
Status
Chromosome7
Chromosomal Location4424770-4445649 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4427704 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 252 (Y252H)
Ref Sequence ENSEMBL: ENSMUSP00000113433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008579] [ENSMUST00000119485]
Predicted Effect probably damaging
Transcript: ENSMUST00000008579
AA Change: Y287H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008579
Gene: ENSMUSG00000008435
AA Change: Y287H

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:KR 39 204 1.3e-7 PFAM
Pfam:adh_short 39 245 1.4e-37 PFAM
Pfam:Epimerase 41 231 1.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119485
AA Change: Y252H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113433
Gene: ENSMUSG00000008435
AA Change: Y252H

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:adh_short 39 115 7.8e-10 PFAM
low complexity region 117 126 N/A INTRINSIC
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 mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disintegration of the outer-plus-inner-segment and outer nuclear layers, reduced amplitudes of a- and b-waves under scotopic conditions and swollen mitochondria in the inner segment following exposure to intense light. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Ascc2 G A 11: 4,640,481 probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Col4a3bp T A 13: 96,629,135 N469K possibly damaging Het
Cryl1 T C 14: 57,303,724 T168A probably benign Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eif4h T C 5: 134,639,292 D3G probably damaging Het
Eny2 C T 15: 44,429,635 R28C possibly damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Gpsm1 C T 2: 26,339,675 T36I probably damaging Het
Hikeshi C T 7: 89,935,889 V36I possibly damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Kcnip4 T A 5: 48,409,785 probably benign Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdpr T A 8: 111,118,090 V373E probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Rdh13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Rdh13 APN 7 4442695 missense probably benign 0.00
IGL01339:Rdh13 APN 7 4427624 missense probably damaging 1.00
IGL01778:Rdh13 APN 7 4430389 splice site probably null
IGL02269:Rdh13 APN 7 4445498 missense possibly damaging 0.95
IGL02820:Rdh13 APN 7 4435060 missense probably damaging 1.00
R0524:Rdh13 UTSW 7 4444297 missense probably damaging 1.00
R1698:Rdh13 UTSW 7 4427791 missense probably damaging 0.97
R2111:Rdh13 UTSW 7 4445483 missense probably benign
R2177:Rdh13 UTSW 7 4427667 missense possibly damaging 0.80
R4811:Rdh13 UTSW 7 4442653 missense probably benign 0.11
R7359:Rdh13 UTSW 7 4427697 missense probably benign 0.37
Posted On2015-04-16