Incidental Mutation 'IGL03380:Hsd17b6'
ID 420642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b6
Ensembl Gene ENSMUSG00000025396
Gene Name hydroxysteroid (17-beta) dehydrogenase 6
Synonyms Hsd17b9, Rdh8, 17betaHSD9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL03380
Quality Score
Status
Chromosome 10
Chromosomal Location 127826805-127843480 bp(-) (GRCm39)
Type of Mutation splice site (3369 bp from exon)
DNA Base Change (assembly) T to C at 127830207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026462] [ENSMUST00000219183] [ENSMUST00000219447] [ENSMUST00000219707] [ENSMUST00000219780] [ENSMUST00000219953]
AlphaFold Q9R092
Predicted Effect possibly damaging
Transcript: ENSMUST00000026462
AA Change: D188G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026462
Gene: ENSMUSG00000025396
AA Change: D188G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 222 6.2e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000219183
AA Change: D188G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219447
AA Change: D188G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000219707
Predicted Effect probably null
Transcript: ENSMUST00000219780
Predicted Effect probably null
Transcript: ENSMUST00000219953
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Cdk19 C T 10: 40,352,908 (GRCm39) P308L probably benign Het
Drc3 A G 11: 60,268,731 (GRCm39) E307G probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hspa1a T C 17: 35,189,253 (GRCm39) K550R probably benign Het
Krba1 A G 6: 48,380,387 (GRCm39) H37R possibly damaging Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Or5b109 T A 19: 13,212,365 (GRCm39) F250L probably benign Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Pramel7 A T 2: 87,321,716 (GRCm39) D106E probably benign Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Rsph1 T C 17: 31,496,210 (GRCm39) E7G unknown Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc37a4 T G 9: 44,311,320 (GRCm39) S204A probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign Het
Zc3hav1 T C 6: 38,313,493 (GRCm39) Y184C probably damaging Het
Other mutations in Hsd17b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Hsd17b6 APN 10 127,833,777 (GRCm39) missense probably damaging 1.00
IGL03399:Hsd17b6 APN 10 127,829,625 (GRCm39) missense probably benign 0.00
R0277:Hsd17b6 UTSW 10 127,827,274 (GRCm39) missense probably benign 0.05
R1731:Hsd17b6 UTSW 10 127,830,348 (GRCm39) missense possibly damaging 0.79
R1780:Hsd17b6 UTSW 10 127,830,196 (GRCm39) critical splice donor site probably null
R4357:Hsd17b6 UTSW 10 127,829,637 (GRCm39) splice site probably null
R4668:Hsd17b6 UTSW 10 127,830,295 (GRCm39) splice site probably null
R4824:Hsd17b6 UTSW 10 127,829,524 (GRCm39) missense probably benign
R5390:Hsd17b6 UTSW 10 127,827,308 (GRCm39) missense probably benign
R5976:Hsd17b6 UTSW 10 127,827,308 (GRCm39) missense probably benign
R6382:Hsd17b6 UTSW 10 127,827,196 (GRCm39) missense probably damaging 0.97
R6442:Hsd17b6 UTSW 10 127,829,636 (GRCm39) splice site probably null
R7367:Hsd17b6 UTSW 10 127,829,492 (GRCm39) missense probably benign 0.02
R7597:Hsd17b6 UTSW 10 127,827,227 (GRCm39) missense probably benign 0.25
R7913:Hsd17b6 UTSW 10 127,833,645 (GRCm39) missense possibly damaging 0.60
R8719:Hsd17b6 UTSW 10 127,829,492 (GRCm39) missense possibly damaging 0.93
R9103:Hsd17b6 UTSW 10 127,833,876 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02