Incidental Mutation 'IGL02820:Rdh16'
ID 360941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh16
Ensembl Gene ENSMUSG00000069456
Gene Name retinol dehydrogenase 16
Synonyms Rdh6, cis-retinol/androgen dehydrogenase 1, CRAD1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02820
Quality Score
Status
Chromosome 10
Chromosomal Location 127636959-127651715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127649470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 309 (T309A)
Ref Sequence ENSEMBL: ENSMUSP00000071573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071646] [ENSMUST00000125163] [ENSMUST00000155739]
AlphaFold O54909
Predicted Effect probably benign
Transcript: ENSMUST00000071646
AA Change: T309A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000071573
Gene: ENSMUSG00000069456
AA Change: T309A

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 benign
Transcript: ENSMUST00000155739
SMART Domains Protein: ENSMUSP00000115993
Gene: ENSMUSG00000069456

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: 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
Rdh13 C T 7: 4,438,059 (GRCm39) V127M probably damaging 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 Rdh16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Rdh16 APN 10 127,649,365 (GRCm39) missense probably benign 0.01
IGL01618:Rdh16 APN 10 127,637,176 (GRCm39) missense probably damaging 1.00
IGL02125:Rdh16 APN 10 127,647,188 (GRCm39) intron probably benign
IGL03091:Rdh16 APN 10 127,649,502 (GRCm39) utr 3 prime probably benign
R1674:Rdh16 UTSW 10 127,637,226 (GRCm39) missense probably benign 0.25
R4616:Rdh16 UTSW 10 127,637,382 (GRCm39) splice site probably null
R4675:Rdh16 UTSW 10 127,637,316 (GRCm39) missense probably damaging 1.00
R5324:Rdh16 UTSW 10 127,637,136 (GRCm39) missense probably damaging 0.99
R7191:Rdh16 UTSW 10 127,649,287 (GRCm39) missense probably benign 0.00
R7935:Rdh16 UTSW 10 127,637,334 (GRCm39) missense probably benign 0.04
R9263:Rdh16 UTSW 10 127,649,306 (GRCm39) missense probably benign
X0013:Rdh16 UTSW 10 127,637,199 (GRCm39) missense probably damaging 1.00
X0066:Rdh16 UTSW 10 127,637,199 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18