Incidental Mutation 'R7367:Hsd17b6'
ID 571888
Institutional Source Beutler Lab
Gene Symbol Hsd17b6
Ensembl Gene ENSMUSG00000025396
Gene Name hydroxysteroid (17-beta) dehydrogenase 6
Synonyms Hsd17b9, Rdh8, 17betaHSD9
MMRRC Submission 045451-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R7367 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127826805-127843480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127829492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 237 (S237T)
Ref Sequence ENSEMBL: ENSMUSP00000151556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026462] [ENSMUST00000219183] [ENSMUST00000219447] [ENSMUST00000219707] [ENSMUST00000219780] [ENSMUST00000219953]
AlphaFold Q9R092
Predicted Effect probably benign
Transcript: ENSMUST00000026462
AA Change: S237T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000026462
Gene: ENSMUSG00000025396
AA Change: S237T

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: S237T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000219447
AA Change: S237T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000219707
Predicted Effect probably benign
Transcript: ENSMUST00000219780
Predicted Effect probably benign
Transcript: ENSMUST00000219953
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 137,996,312 (GRCm39) T374A probably benign Het
Agps T A 2: 75,698,657 (GRCm39) H348Q possibly damaging Het
Ankrd34b C A 13: 92,574,795 (GRCm39) T9K probably benign Het
Atp10b A G 11: 43,138,328 (GRCm39) Q1203R probably damaging Het
B4galnt4 A G 7: 140,644,388 (GRCm39) N123D probably damaging Het
Ccn6 A G 10: 39,034,261 (GRCm39) C114R probably damaging Het
Cep250 A G 2: 155,811,227 (GRCm39) T358A probably benign Het
Cfh A T 1: 140,014,259 (GRCm39) H1188Q probably damaging Het
Cisd1 A G 10: 71,172,190 (GRCm39) Y31H probably damaging Het
Cnga1 G A 5: 72,762,701 (GRCm39) S271F possibly damaging Het
Cntnap5a A G 1: 116,370,025 (GRCm39) T881A probably benign Het
Cracd T A 5: 77,004,449 (GRCm39) L270Q unknown Het
Cyp2s1 A T 7: 25,505,398 (GRCm39) D355E possibly damaging Het
Dnaaf10 A G 11: 17,182,712 (GRCm39) Y291C probably damaging Het
Dnah11 T A 12: 117,951,177 (GRCm39) R3044W possibly damaging Het
Dnah17 T C 11: 118,006,022 (GRCm39) D730G probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Flacc1 A T 1: 58,706,023 (GRCm39) I282N probably benign Het
Fsd2 A G 7: 81,184,928 (GRCm39) I656T probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm45871 A T 18: 90,609,224 (GRCm39) H154L probably benign Het
Golgb1 T A 16: 36,718,908 (GRCm39) N312K probably benign Het
H2ac4 A G 13: 23,935,333 (GRCm39) D73G possibly damaging Het
Hsd17b4 T A 18: 50,288,252 (GRCm39) H227Q probably damaging Het
Htra4 A T 8: 25,523,713 (GRCm39) V284E probably damaging Het
Kcnv1 C T 15: 44,972,638 (GRCm39) C415Y probably damaging Het
Kif11 T A 19: 37,408,789 (GRCm39) L1037H probably benign Het
Lama5 T C 2: 179,834,751 (GRCm39) T1347A probably benign Het
Lrrc32 G T 7: 98,148,086 (GRCm39) E289* probably null Het
Lrrc66 T C 5: 73,765,724 (GRCm39) T440A probably benign Het
Neurl4 T C 11: 69,799,408 (GRCm39) L928P probably damaging Het
Nos2 G A 11: 78,840,916 (GRCm39) C788Y possibly damaging Het
Or2c1 A G 16: 3,657,166 (GRCm39) T110A probably damaging Het
Or4x11 A G 2: 89,868,156 (GRCm39) S298G probably benign Het
Or5m5 T C 2: 85,814,687 (GRCm39) W168R possibly damaging Het
Pafah1b3 A G 7: 24,995,491 (GRCm39) C156R probably benign Het
Pak1ip1 T G 13: 41,162,371 (GRCm39) N151K probably damaging Het
Pax7 G A 4: 139,507,060 (GRCm39) P326S probably benign Het
Pex11b G A 3: 96,543,994 (GRCm39) A21T probably damaging Het
Pkn2 A G 3: 142,516,488 (GRCm39) V546A probably benign Het
Ppat T A 5: 77,067,711 (GRCm39) R260* probably null Het
Ppp1r13l C G 7: 19,104,081 (GRCm39) S187R probably benign Het
Pwp2 C T 10: 78,018,314 (GRCm39) G126R probably damaging Het
R3hdm1 A G 1: 128,081,129 (GRCm39) D55G possibly damaging Het
Rev1 A T 1: 38,113,488 (GRCm39) Y526* probably null Het
Rp1 A G 1: 4,418,221 (GRCm39) W964R probably benign Het
Sarnp A G 10: 128,669,247 (GRCm39) I35V probably damaging Het
Sec23a T C 12: 59,013,785 (GRCm39) N730S probably benign Het
Sh3d19 A G 3: 86,011,535 (GRCm39) K374E probably benign Het
Sh3tc2 A G 18: 62,122,577 (GRCm39) D446G probably benign Het
Sugct T A 13: 17,819,399 (GRCm39) I149F probably damaging Het
Tle2 A G 10: 81,416,152 (GRCm39) N142S probably damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trpm1 T A 7: 63,918,549 (GRCm39) Y1514N probably benign Het
Ubr4 C T 4: 139,180,002 (GRCm39) S259L unknown Het
Utp20 A T 10: 88,631,305 (GRCm39) L892Q probably benign Het
Zfp956 C T 6: 47,940,853 (GRCm39) T404M probably damaging 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
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
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'- AGAATCCAGGACACCACTGTAA -3'
(R):5'- GTTTTCATCGAAGGTGGTAACTTAA -3'

Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- AAATAGTTCGGTTTCAGGCATGAG -3'
Posted On 2019-09-13