Incidental Mutation 'R5390:Hsd17b6'
ID 425530
Institutional Source Beutler Lab
Gene Symbol Hsd17b6
Ensembl Gene ENSMUSG00000025396
Gene Name hydroxysteroid (17-beta) dehydrogenase 6
Synonyms Hsd17b9, Rdh8, 17betaHSD9
MMRRC Submission 042962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5390 (G1)
Quality Score 212
Status Not validated
Chromosome 10
Chromosomal Location 127826805-127843480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127827308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 255 (M255L)
Ref Sequence ENSEMBL: ENSMUSP00000151556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026462] [ENSMUST00000219183] [ENSMUST00000219447] [ENSMUST00000219707]
AlphaFold Q9R092
Predicted Effect probably benign
Transcript: ENSMUST00000026462
AA Change: M255L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026462
Gene: ENSMUSG00000025396
AA Change: M255L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 222 6.2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219183
AA Change: M255L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219447
AA Change: M255L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219707
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,406,772 (GRCm39) probably benign Het
Anxa4 G A 6: 86,730,865 (GRCm39) T104M probably damaging Het
BC048562 G T 9: 108,313,777 (GRCm39) W9L probably damaging Het
Cachd1 T A 4: 100,838,203 (GRCm39) M822K probably damaging Het
Clec4g C A 8: 3,768,441 (GRCm39) V97L probably benign Het
Ddx19a G A 8: 111,707,263 (GRCm39) Q176* probably null Het
Eml6 T C 11: 29,710,096 (GRCm39) H1413R probably damaging Het
Fam161b C T 12: 84,395,408 (GRCm39) V512M probably damaging Het
Glcci1 A T 6: 8,537,835 (GRCm39) Q151L probably benign Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Gpnmb A T 6: 49,024,775 (GRCm39) D269V probably damaging Het
Gpx3 A T 11: 54,800,375 (GRCm39) D191V probably damaging Het
Grm4 C T 17: 27,653,712 (GRCm39) C491Y probably damaging Het
H2-M10.4 T A 17: 36,771,533 (GRCm39) H215L probably damaging Het
Hrc T A 7: 44,984,909 (GRCm39) L20Q probably damaging Het
Hydin A T 8: 111,322,099 (GRCm39) I4584L probably benign Het
Ift70a2 A T 2: 75,807,630 (GRCm39) L294Q probably damaging Het
Ints5 T A 19: 8,873,931 (GRCm39) I630K possibly damaging Het
Kctd10 A G 5: 114,503,764 (GRCm39) I296T possibly damaging Het
Ltv1 G A 10: 13,058,103 (GRCm39) R234C probably damaging Het
Macf1 A G 4: 123,365,546 (GRCm39) S1507P probably damaging Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Ms4a4d T C 19: 11,526,004 (GRCm39) probably null Het
Net1 C T 13: 3,943,379 (GRCm39) A3T probably benign Het
Nlrp2 T C 7: 5,303,908 (GRCm39) M206V probably benign Het
Or1j1 C T 2: 36,702,444 (GRCm39) R220H probably benign Het
Or5an1b T A 19: 12,299,505 (GRCm39) I229F probably damaging Het
Pcyox1l T C 18: 61,832,433 (GRCm39) I205V probably benign Het
Pigo A G 4: 43,019,645 (GRCm39) probably null Het
Pla2g6 A T 15: 79,173,893 (GRCm39) S590T possibly damaging Het
Pwp2 T C 10: 78,013,605 (GRCm39) T539A possibly damaging Het
Rag1 T C 2: 101,473,079 (GRCm39) T688A probably benign Het
Senp7 A G 16: 55,990,279 (GRCm39) T676A probably benign Het
Slc26a6 T C 9: 108,738,499 (GRCm39) probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Sorbs2 A G 8: 46,272,778 (GRCm39) H653R probably damaging Het
Stk3 T A 15: 35,114,706 (GRCm39) K67* probably null Het
Tctn2 A ACC 5: 124,762,400 (GRCm39) probably benign Homo
Ttn T C 2: 76,540,395 (GRCm39) Y34197C probably damaging Het
Ufc1 A C 1: 171,117,746 (GRCm39) L56R probably damaging Het
Usp34 T A 11: 23,394,202 (GRCm39) probably null Het
Vnn3 T A 10: 23,727,483 (GRCm39) M1K probably null Het
Zfp653 C A 9: 21,969,099 (GRCm39) probably null Het
Other mutations in Hsd17b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Hsd17b6 APN 10 127,833,777 (GRCm39) missense probably damaging 1.00
IGL03380:Hsd17b6 APN 10 127,830,207 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- GAGTCATTTCTTCATTCCAACAGC -3'
(R):5'- GATGACCATGTTGGGAAGCAC -3'

Sequencing Primer
(F):5'- ACCAATCCGGGATCCTTCAGG -3'
(R):5'- CAGGCTGGAATCCTGGTCTTTC -3'
Posted On 2016-08-04