Incidental Mutation 'IGL00731:Rdh10'
ID13791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh10
Ensembl Gene ENSMUSG00000025921
Gene Nameretinol dehydrogenase 10 (all-trans)
Synonyms3110069K09Rik, D1Ertd762e, 4921506A21Rik, m366Asp
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.920) question?
Stock #IGL00731
Quality Score
Status
Chromosome1
Chromosomal Location16105774-16133734 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 16107875 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 124 (N124D)
Ref Sequence ENSEMBL: ENSMUSP00000027053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027053] [ENSMUST00000058437]
Predicted Effect probably benign
Transcript: ENSMUST00000027053
AA Change: N124D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: N124D

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:KR 37 231 3.1e-8 PFAM
Pfam:adh_short 90 259 1.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058437
SMART Domains Protein: ENSMUSP00000071616
Gene: ENSMUSG00000043716

DomainStartEndE-ValueType
Pfam:Ribosomal_L30_N 39 109 4.5e-31 PFAM
Pfam:Ribosomal_L30 112 162 1.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141217
Predicted Effect probably benign
Transcript: ENSMUST00000149566
SMART Domains Protein: ENSMUSP00000118695
Gene: ENSMUSG00000043716

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Pfam:Ribosomal_L30_N 65 135 2.1e-31 PFAM
Pfam:Ribosomal_L30 138 188 3e-29 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 retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]
PHENOTYPE: Embryos homozygous for null or hypomorphic alleles exhibit mid-gestational lethality, reduced Retinoic Acid signaling and abnormal limb, craniofacial, somite and cardiac morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,044,869 probably benign Het
Adcy10 T C 1: 165,572,614 F1531L probably benign Het
Dab2 T C 15: 6,435,710 S463P possibly damaging Het
Ehf C T 2: 103,266,840 probably null Het
Fnbp4 G T 2: 90,768,643 V704L probably benign Het
Gbp7 T C 3: 142,546,428 S591P probably benign Het
Gpr155 A G 2: 73,362,613 L498P probably damaging Het
Igll1 T C 16: 16,860,919 T176A probably benign Het
Klk1b21 A G 7: 44,105,923 E182G possibly damaging Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Npat G A 9: 53,562,086 E393K probably damaging Het
Npnt C T 3: 132,904,657 probably null Het
Pde2a A G 7: 101,508,099 Y693C probably benign Het
Ralgapa1 A G 12: 55,702,452 S1269P possibly damaging Het
Rasal2 A C 1: 157,157,764 D804E probably benign Het
Slit3 G T 11: 35,622,154 D536Y probably damaging Het
Snx24 C T 18: 53,384,609 probably benign Het
Spink12 G A 18: 44,108,110 probably benign Het
Other mutations in Rdh10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Rdh10 APN 1 16108022 missense possibly damaging 0.90
IGL01820:Rdh10 APN 1 16128259 missense possibly damaging 0.84
IGL02377:Rdh10 APN 1 16106214 nonsense probably null
IGL03212:Rdh10 APN 1 16107827 missense probably benign 0.03
R0039:Rdh10 UTSW 1 16129284 missense probably damaging 0.97
R0042:Rdh10 UTSW 1 16108036 unclassified probably benign
R0042:Rdh10 UTSW 1 16108036 unclassified probably benign
R0109:Rdh10 UTSW 1 16106265 missense probably damaging 0.97
R0569:Rdh10 UTSW 1 16129293 missense probably damaging 1.00
R1272:Rdh10 UTSW 1 16108016 missense probably damaging 1.00
R1633:Rdh10 UTSW 1 16128196 missense possibly damaging 0.90
R2896:Rdh10 UTSW 1 16106105 splice site probably null
R4623:Rdh10 UTSW 1 16131063 splice site probably benign
R5095:Rdh10 UTSW 1 16131385 missense probably benign 0.01
R5158:Rdh10 UTSW 1 16107997 missense probably damaging 1.00
R5535:Rdh10 UTSW 1 16131184 missense probably damaging 1.00
R6433:Rdh10 UTSW 1 16107855 missense probably damaging 0.98
R6778:Rdh10 UTSW 1 16106184 missense probably damaging 0.99
R6922:Rdh10 UTSW 1 16106031 missense probably benign
Posted On2012-12-06