Incidental Mutation 'IGL01618:Rdh16'
ID 92439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh16
Ensembl Gene ENSMUSG00000069456
Gene Name retinol dehydrogenase 16
Synonyms Rdh6, CRAD1, cis-retinol/androgen dehydrogenase 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01618
Quality Score
Status
Chromosome 10
Chromosomal Location 127801152-127846565 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127801307 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 37 (C37Y)
Ref Sequence ENSEMBL: ENSMUSP00000115993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071646] [ENSMUST00000125163] [ENSMUST00000155739]
AlphaFold O54909
Predicted Effect probably damaging
Transcript: ENSMUST00000071646
AA Change: C37Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071573
Gene: ENSMUSG00000069456
AA Change: C37Y

DomainStartEndE-ValueType
Pfam:adh_short 30 220 5.9e-42 PFAM
Pfam:DUF1776 43 303 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125163
Predicted Effect probably damaging
Transcript: ENSMUST00000155739
AA Change: C37Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115993
Gene: ENSMUSG00000069456
AA Change: C37Y

DomainStartEndE-ValueType
Pfam:adh_short 30 107 3.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,272,833 A74V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1a3 G A 7: 66,409,230 T239I probably damaging Het
Anxa9 A G 3: 95,300,536 probably null Het
Atp5k C A 5: 108,434,033 K28N probably damaging Het
C9 T G 15: 6,459,668 Y169D probably benign Het
Cbwd1 T C 19: 24,940,776 E210G possibly damaging Het
Chat T A 14: 32,446,892 probably null Het
Csmd3 C T 15: 48,011,083 E706K probably benign Het
Ctbs A G 3: 146,455,112 K145E probably benign Het
Dennd5a A G 7: 109,934,095 M156T probably damaging Het
Dhx29 A G 13: 112,965,222 Y1275C probably damaging Het
Dpp10 A T 1: 123,367,867 F517Y probably benign Het
Dst G A 1: 34,188,909 W1536* probably null Het
Galc T C 12: 98,252,081 T171A possibly damaging Het
Gsap T C 5: 21,226,248 I190T probably damaging Het
Hars2 A T 18: 36,789,577 R388* probably null Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Itgbl1 T A 14: 123,827,799 S122T possibly damaging Het
Jhy G T 9: 40,960,964 T83K possibly damaging Het
Kcne4 A T 1: 78,817,808 M58L possibly damaging Het
Lamc3 T A 2: 31,912,107 I509N probably damaging Het
Lpar6 T C 14: 73,239,066 S156P probably damaging Het
Man2c1 T C 9: 57,141,556 probably benign Het
March11 T C 15: 26,409,199 I328T possibly damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Muc4 A T 16: 32,756,627 Q2167L unknown Het
Myom1 T C 17: 71,099,993 V1135A possibly damaging Het
Nectin1 C T 9: 43,791,258 R101* probably null Het
Nxpe4 T C 9: 48,394,140 S277P possibly damaging Het
Olfr1152 A C 2: 87,868,144 D51A probably damaging Het
Olfr1459 T A 19: 13,146,250 K136N probably benign Het
Olfr395 T C 11: 73,907,477 N5S probably damaging Het
Olfr437 T A 6: 43,167,703 V215E probably damaging Het
Olfr584 G A 7: 103,086,375 V281I probably benign Het
Pappa2 G T 1: 158,857,378 N730K probably damaging Het
Prepl A G 17: 85,066,281 V586A probably damaging Het
Prrc2a T C 17: 35,149,553 Y2098C probably damaging Het
Rnd1 A T 15: 98,673,865 M100K probably benign Het
Sema3c A G 5: 17,672,506 N204D probably damaging Het
Susd4 A G 1: 182,858,461 probably null Het
Taar7f G T 10: 24,050,341 A278S possibly damaging Het
Tle4 T A 19: 14,544,814 M122L probably benign Het
Trim9 C T 12: 70,248,351 V662I probably benign Het
Vmn2r10 C A 5: 109,002,479 C233F probably damaging Het
Vmn2r98 A C 17: 19,065,259 T114P possibly damaging Het
Zfyve21 C T 12: 111,827,813 probably benign Het
Other mutations in Rdh16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Rdh16 APN 10 127813496 missense probably benign 0.01
IGL02125:Rdh16 APN 10 127811319 intron probably benign
IGL02820:Rdh16 APN 10 127813601 missense probably benign 0.01
IGL03091:Rdh16 APN 10 127813633 utr 3 prime probably benign
R1674:Rdh16 UTSW 10 127801357 missense probably benign 0.25
R4616:Rdh16 UTSW 10 127801513 splice site probably null
R4675:Rdh16 UTSW 10 127801447 missense probably damaging 1.00
R5324:Rdh16 UTSW 10 127801267 missense probably damaging 0.99
R7191:Rdh16 UTSW 10 127813418 missense probably benign 0.00
R7935:Rdh16 UTSW 10 127801465 missense probably benign 0.04
R9263:Rdh16 UTSW 10 127813437 missense probably benign
X0013:Rdh16 UTSW 10 127801330 missense probably damaging 1.00
X0066:Rdh16 UTSW 10 127801330 missense probably damaging 1.00
Posted On 2013-12-09