Incidental Mutation 'IGL03212:Rdh10'
ID413332
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: 0.933) question?
Stock #IGL03212
Quality Score
Status
Chromosome1
Chromosomal Location16105774-16133734 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 16107827 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Glycine at position 108 (C108G)
Ref Sequence ENSEMBL: ENSMUSP00000027053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027053] [ENSMUST00000058437]
Predicted Effect probably benign
Transcript: ENSMUST00000027053
AA Change: C108G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: C108G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151017
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,202,926 S657P probably benign Het
Atp2c1 T A 9: 105,445,267 N221I probably damaging Het
Atp5h G T 11: 115,415,771 H155N probably damaging Het
Cd55b A T 1: 130,411,442 N316K probably benign Het
Celsr1 A T 15: 85,930,677 M1861K probably benign Het
Cfap69 T G 5: 5,657,849 probably null Het
Col7a1 C A 9: 108,974,452 P2169Q unknown Het
Cyp2j5 G T 4: 96,663,818 H65N probably damaging Het
Dnah5 T C 15: 28,290,163 V1233A probably benign Het
Fn1 A T 1: 71,641,325 L407* probably null Het
Fpr-rs3 T C 17: 20,623,859 D340G probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glmp T C 3: 88,328,357 S317P probably benign Het
Gm15448 T A 7: 3,823,133 Q287L probably benign Het
Gm5581 A T 6: 131,181,450 noncoding transcript Het
Gm5624 A T 14: 44,560,710 N103K probably benign Het
Gprin3 A G 6: 59,355,028 F98S probably benign Het
Ighmbp2 A G 19: 3,279,942 V104A probably damaging Het
Igkv4-79 A C 6: 69,043,230 S34A probably benign Het
Igsf10 G A 3: 59,328,165 P1532S probably benign Het
Myt1l A G 12: 29,827,820 K490R unknown Het
Olfr1176 T A 2: 88,339,672 Y36N probably damaging Het
Plxna1 T A 6: 89,331,903 T1198S probably damaging Het
Pramel6 A G 2: 87,510,425 D367G probably damaging Het
Rbm28 G T 6: 29,131,275 R10S probably damaging Het
Rfx7 C A 9: 72,619,161 T1211K probably benign Het
Slc24a5 C A 2: 125,080,830 T141N probably damaging Het
Smarca5 T A 8: 80,711,781 N642I possibly damaging Het
Smchd1 C A 17: 71,443,891 R344L probably damaging Het
Tmx3 T A 18: 90,538,518 I355N probably damaging Het
Tram1l1 G A 3: 124,321,914 G241D possibly damaging Het
Ubr4 A G 4: 139,409,763 T982A probably benign Het
Vmn2r52 T G 7: 10,159,547 H555P possibly damaging Het
Zbtb43 A T 2: 33,454,274 M313K probably benign Het
Zfp942 A T 17: 21,929,464 Y61* probably null Het
Other mutations in Rdh10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Rdh10 APN 1 16107875 missense probably benign
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
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 On2016-08-02