Incidental Mutation 'IGL02820:Rdh13'
ID 360947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh13
Ensembl Gene ENSMUSG00000008435
Gene Name retinol dehydrogenase 13 (all-trans and 9-cis)
Synonyms 8430425D21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # IGL02820
Quality Score
Status
Chromosome 7
Chromosomal Location 4427769-4448648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4438059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 127 (V127M)
Ref Sequence ENSEMBL: ENSMUSP00000008579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008579] [ENSMUST00000119485] [ENSMUST00000138798]
AlphaFold Q8CEE7
Predicted Effect probably damaging
Transcript: ENSMUST00000008579
AA Change: V127M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000008579
Gene: ENSMUSG00000008435
AA Change: V127M

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 damaging
Transcript: ENSMUST00000138798
AA Change: V107M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114390
Gene: ENSMUSG00000008435
AA Change: V107M

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,124,417 (GRCm39) Y86C probably benign Het
Adgra2 G A 8: 27,607,535 (GRCm39) V47M probably damaging Het
Anks1b T C 10: 89,912,921 (GRCm39) C349R possibly damaging Het
Anks4b A T 7: 119,781,914 (GRCm39) probably benign Het
Apobec2 A G 17: 48,730,295 (GRCm39) S124P probably damaging Het
Brd8 G A 18: 34,740,354 (GRCm39) S493L probably benign Het
Cbln3 A G 14: 56,120,944 (GRCm39) Y126H probably damaging Het
Ccdc138 T C 10: 58,364,721 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ceacam2 T A 7: 25,219,411 (GRCm39) H283L probably damaging Het
Cfap251 A G 5: 123,392,699 (GRCm39) probably benign Het
Clasp1 A G 1: 118,478,834 (GRCm39) D718G possibly damaging Het
Clmn A T 12: 104,739,493 (GRCm39) Y979N probably damaging Het
Ddias T C 7: 92,508,551 (GRCm39) T455A probably benign Het
Dennd5b T C 6: 148,920,840 (GRCm39) R851G probably null Het
Dock1 T C 7: 134,768,944 (GRCm39) V1771A probably benign Het
Dysf T A 6: 84,077,187 (GRCm39) L694Q probably damaging Het
Faim2 T C 15: 99,419,138 (GRCm39) Y77C probably benign Het
Fbxw22 A T 9: 109,215,732 (GRCm39) I172N probably damaging Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Fyb1 T G 15: 6,688,040 (GRCm39) V800G possibly damaging Het
Gcm1 T C 9: 77,971,844 (GRCm39) F262L probably benign Het
Gm21983 T C 7: 26,879,605 (GRCm39) M121V probably benign Het
Gm9996 A T 10: 29,019,657 (GRCm39) probably benign Het
Gstm3 A T 3: 107,876,074 (GRCm39) probably benign Het
Gsto2 G T 19: 47,863,398 (GRCm39) E91D probably damaging Het
Hs6st3 G T 14: 119,376,492 (GRCm39) M222I possibly damaging Het
Ighv3-6 T C 12: 114,251,850 (GRCm39) D90G probably damaging Het
Itgb1bp1 C T 12: 21,326,854 (GRCm39) A40T possibly damaging Het
Kcns3 C T 12: 11,141,872 (GRCm39) E276K probably benign Het
Lamc3 C T 2: 31,813,034 (GRCm39) R1007C probably damaging Het
Lnx2 A T 5: 146,978,877 (GRCm39) M125K probably damaging Het
Lyst T A 13: 13,812,643 (GRCm39) N1018K probably benign Het
Mctp2 T A 7: 71,895,290 (GRCm39) S186C probably damaging Het
Or1j20 A T 2: 36,759,871 (GRCm39) T98S probably benign Het
Polg T C 7: 79,109,519 (GRCm39) T433A possibly damaging Het
Rdh16 A G 10: 127,649,470 (GRCm39) T309A probably benign Het
Reep5 A T 18: 34,506,312 (GRCm39) D21E probably benign Het
Rptn A T 3: 93,304,227 (GRCm39) N520I probably benign Het
Rttn T C 18: 89,047,122 (GRCm39) L928P probably damaging Het
Slc44a2 A G 9: 21,254,273 (GRCm39) I212V probably benign Het
Snupn A G 9: 56,870,332 (GRCm39) T71A probably benign Het
Ssu2 T C 6: 112,359,353 (GRCm39) N89S probably benign Het
Thsd7a A G 6: 12,321,071 (GRCm39) S1535P probably damaging Het
Tmt1a C A 15: 100,202,933 (GRCm39) S51* probably null Het
Uba7 A T 9: 107,858,715 (GRCm39) S849C probably benign Het
Vmn2r80 A G 10: 79,007,439 (GRCm39) T472A probably benign Het
Wdr6 A G 9: 108,455,743 (GRCm39) I17T probably benign Het
Xkr9 G A 1: 13,771,173 (GRCm39) V230I probably benign Het
Other mutations in Rdh13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Rdh13 APN 7 4,445,694 (GRCm39) missense probably benign 0.00
IGL01339:Rdh13 APN 7 4,430,623 (GRCm39) missense probably damaging 1.00
IGL01778:Rdh13 APN 7 4,433,388 (GRCm39) splice site probably null
IGL02269:Rdh13 APN 7 4,448,497 (GRCm39) missense possibly damaging 0.95
IGL02749:Rdh13 APN 7 4,430,703 (GRCm39) missense probably damaging 1.00
R0524:Rdh13 UTSW 7 4,447,296 (GRCm39) missense probably damaging 1.00
R1698:Rdh13 UTSW 7 4,430,790 (GRCm39) missense probably damaging 0.97
R2111:Rdh13 UTSW 7 4,448,482 (GRCm39) missense probably benign
R2177:Rdh13 UTSW 7 4,430,666 (GRCm39) missense possibly damaging 0.80
R4811:Rdh13 UTSW 7 4,445,652 (GRCm39) missense probably benign 0.11
R7359:Rdh13 UTSW 7 4,430,696 (GRCm39) missense probably benign 0.37
R8887:Rdh13 UTSW 7 4,434,522 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18