Incidental Mutation 'IGL01122:Rdh13'
ID51600
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: 0.115) question?
Stock #IGL01122
Quality Score
Status
Chromosome7
Chromosomal Location4424770-4445649 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4442695 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 60 (K60R)
Ref Sequence ENSEMBL: ENSMUSP00000114390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008579] [ENSMUST00000119485] [ENSMUST00000138798]
Predicted Effect probably benign
Transcript: ENSMUST00000008579
AA Change: K80R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000008579
Gene: ENSMUSG00000008435
AA Change: K80R

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 noncoding transcript
Transcript: ENSMUST00000104772
Predicted Effect probably benign
Transcript: ENSMUST00000119485
AA Change: K80R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113433
Gene: ENSMUSG00000008435
AA Change: K80R

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 noncoding transcript
Transcript: ENSMUST00000128299
Predicted Effect probably benign
Transcript: ENSMUST00000138798
AA Change: K60R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114390
Gene: ENSMUSG00000008435
AA Change: K60R

DomainStartEndE-ValueType
Pfam:KR 19 112 2.7e-7 PFAM
Pfam:adh_short 19 115 1.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171665
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap6 A T X: 169,246,670 K142N possibly damaging Het
Atp13a1 T A 8: 69,798,905 L540Q probably damaging Het
C530008M17Rik T C 5: 76,870,675 *1289Q probably null Het
Cacna1a T C 8: 84,614,793 probably null Het
Cops6 A G 5: 138,162,373 K129E probably benign Het
Cyp11a1 T C 9: 58,016,306 I98T probably damaging Het
Cyp2c65 A G 19: 39,072,177 probably null Het
Dapl1 A T 2: 59,494,495 K30I probably damaging Het
Dlg2 A G 7: 92,442,608 M894V possibly damaging Het
Eme2 C T 17: 24,893,346 A202T possibly damaging Het
Fbxw22 A T 9: 109,386,671 S170T probably damaging Het
Gm13078 A G 4: 143,728,401 D423G probably benign Het
Havcr2 A G 11: 46,456,427 Y77C probably damaging Het
Ivd T A 2: 118,876,880 probably benign Het
Map3k9 T C 12: 81,732,126 D471G possibly damaging Het
Med12 T C X: 101,281,543 probably benign Het
Megf6 C T 4: 154,253,807 R445W probably damaging Het
Mptx1 A G 1: 174,332,398 Y90C probably damaging Het
Nek1 G A 8: 61,120,966 V1083I possibly damaging Het
Nepn T A 10: 52,391,815 I59N probably damaging Het
Olfr1245 A G 2: 89,575,423 I101T possibly damaging Het
Pbdc1 T C X: 105,082,691 probably benign Het
Phlpp1 G T 1: 106,173,436 R478L possibly damaging Het
Ppp2r3a A G 9: 101,211,645 L493P probably benign Het
Ppp2r3c C T 12: 55,297,802 G127D probably benign Het
Psap T C 10: 60,299,474 V303A probably benign Het
Scaf4 A G 16: 90,248,630 S528P unknown Het
Sfmbt1 A G 14: 30,810,311 I543V probably damaging Het
Speg T C 1: 75,410,035 L1271P probably damaging Het
Stard9 C A 2: 120,698,479 T1739K possibly damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Tmprss11b G T 5: 86,663,517 T186K probably benign Het
U2surp G T 9: 95,490,234 Q291K probably benign Het
Ulk4 A G 9: 121,168,292 I738T possibly damaging Het
Urb1 A T 16: 90,804,458 S142T possibly damaging Het
Vmn2r112 T A 17: 22,603,007 I222N probably benign Het
Zmym4 T C 4: 126,864,252 N1503S probably damaging Het
Other mutations in Rdh13
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7359:Rdh13 UTSW 7 4427697 missense probably benign 0.37
Posted On2013-06-21