Incidental Mutation 'IGL01778:Rdh13'
ID153769
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: 0.189) question?
Stock #IGL01778
Quality Score
Status
Chromosome7
Chromosomal Location4424770-4445649 bp(-) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) C to T at 4430389 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000008579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008579] [ENSMUST00000119485] [ENSMUST00000138798]
Predicted Effect probably null
Transcript: ENSMUST00000008579
SMART Domains Protein: ENSMUSP00000008579
Gene: ENSMUSG00000008435

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 benign
Transcript: ENSMUST00000119485
SMART Domains Protein: ENSMUSP00000113433
Gene: ENSMUSG00000008435

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
Predicted Effect probably benign
Transcript: ENSMUST00000138798
SMART Domains Protein: ENSMUSP00000114390
Gene: ENSMUSG00000008435

DomainStartEndE-ValueType
Pfam:KR 19 112 2.7e-7 PFAM
Pfam:adh_short 19 115 1.3e-15 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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign 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
IGL02269:Rdh13 APN 7 4445498 missense possibly damaging 0.95
IGL02749:Rdh13 APN 7 4427704 missense probably damaging 1.00
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
Posted On2014-02-04