Incidental Mutation 'R4469:Hsd17b1'
ID 329331
Institutional Source Beutler Lab
Gene Symbol Hsd17b1
Ensembl Gene ENSMUSG00000019301
Gene Name hydroxysteroid (17-beta) dehydrogenase 1
Synonyms Hsd17ba, 17beta-HSD
MMRRC Submission 041726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4469 (G1)
Quality Score 182
Status Validated
Chromosome 11
Chromosomal Location 100969237-100971353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100970838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 265 (M265L)
Ref Sequence ENSEMBL: ENSMUSP00000019445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001802] [ENSMUST00000001806] [ENSMUST00000019445] [ENSMUST00000107308]
AlphaFold P51656
Predicted Effect probably benign
Transcript: ENSMUST00000001802
SMART Domains Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:NAGLU_N 28 114 4.8e-24 PFAM
Pfam:NAGLU 128 463 8.2e-150 PFAM
Pfam:NAGLU_C 471 731 4.5e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000001806
SMART Domains Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 159 170 N/A INTRINSIC
Pfam:CTP_transf_2 194 338 1.4e-11 PFAM
Pfam:CoaE 358 536 5.6e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019445
AA Change: M265L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019445
Gene: ENSMUSG00000019301
AA Change: M265L

DomainStartEndE-ValueType
Pfam:KR 4 174 3.5e-9 PFAM
Pfam:adh_short 4 200 1.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107308
SMART Domains Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 159 170 N/A INTRINSIC
Pfam:CTP_transf_like 194 338 5.3e-11 PFAM
Pfam:CoaE 358 536 1.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151686
Meta Mutation Damage Score 0.0736 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe female subfertility with defects in leteunization and progesterone production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,606,345 (GRCm39) K196E probably damaging Het
Ackr1 T C 1: 173,160,112 (GRCm39) probably null Het
Adgra1 C T 7: 139,455,977 (GRCm39) T535I probably damaging Het
Ankrd11 A G 8: 123,623,326 (GRCm39) Y310H probably damaging Het
Arhgef5 T C 6: 43,252,033 (GRCm39) I928T probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asb4 C A 6: 5,423,409 (GRCm39) F185L probably benign Het
Ces2g A T 8: 105,692,602 (GRCm39) I301F probably benign Het
Chd1 T C 17: 15,980,657 (GRCm39) I1308T probably damaging Het
Cntnap4 A T 8: 113,391,898 (GRCm39) N121I probably damaging Het
Csf1 C T 3: 107,657,997 (GRCm39) probably null Het
Dnah7a T A 1: 53,483,685 (GRCm39) H3364L probably benign Het
Dnmt3c A G 2: 153,562,280 (GRCm39) T555A possibly damaging Het
Dst A G 1: 34,230,923 (GRCm39) T3017A probably benign Het
Efcab7 A G 4: 99,766,901 (GRCm39) D482G possibly damaging Het
Fbxl5 A G 5: 43,925,528 (GRCm39) V154A probably damaging Het
Flt3 T C 5: 147,312,454 (GRCm39) silent Het
G6pd2 A T 5: 61,966,288 (GRCm39) Y21F probably benign Het
Gm9376 C T 14: 118,505,011 (GRCm39) P148S probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Gtpbp2 A G 17: 46,472,239 (GRCm39) Y58C probably damaging Het
Hcrtr2 T A 9: 76,137,838 (GRCm39) T426S probably benign Het
Herc3 T A 6: 58,853,794 (GRCm39) Y613* probably null Het
Ier3ip1 A G 18: 77,028,294 (GRCm39) probably benign Het
Kif11 A G 19: 37,404,940 (GRCm39) M924V probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lancl2 T A 6: 57,690,019 (GRCm39) L75H probably damaging Het
Mfsd4b1 T C 10: 39,888,091 (GRCm39) probably benign Het
Nlrc5 A T 8: 95,247,467 (GRCm39) I1588F probably damaging Het
Nostrin C G 2: 69,006,061 (GRCm39) I248M probably damaging Het
Or12d14-ps1 A G 17: 37,673,528 (GRCm39) I170M possibly damaging Het
Or14j1 T C 17: 38,146,607 (GRCm39) L239P probably benign Het
Qng1 A G 13: 58,530,239 (GRCm39) L257P probably damaging Het
Rabggta A G 14: 55,953,944 (GRCm39) V266A probably benign Het
Ror2 G A 13: 53,286,016 (GRCm39) T66M possibly damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Skp1 C T 11: 52,135,905 (GRCm39) T138I probably benign Het
Smad9 T C 3: 54,690,182 (GRCm39) V134A probably damaging Het
Snx29 T A 16: 11,238,565 (GRCm39) probably null Het
Sos1 A G 17: 80,761,240 (GRCm39) I152T probably damaging Het
Ssbp2 G A 13: 91,842,175 (GRCm39) G302D probably damaging Het
Stom T C 2: 35,211,545 (GRCm39) N159D possibly damaging Het
Trav16d-dv11 A G 14: 53,285,035 (GRCm39) K37R probably benign Het
Trim75 A G 8: 65,436,369 (GRCm39) V27A probably damaging Het
Ttn T C 2: 76,548,105 (GRCm39) T32066A probably damaging Het
Txndc11 T C 16: 10,893,087 (GRCm39) H881R probably benign Het
Ubp1 C T 9: 113,787,775 (GRCm39) T222I probably benign Het
Unc5cl C G 17: 48,766,833 (GRCm39) P69R possibly damaging Het
Zfp616 T A 11: 73,961,950 (GRCm39) C24S probably damaging Het
Other mutations in Hsd17b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Hsd17b1 APN 11 100,970,884 (GRCm39) missense possibly damaging 0.74
IGL01602:Hsd17b1 APN 11 100,969,755 (GRCm39) missense probably damaging 1.00
IGL01605:Hsd17b1 APN 11 100,969,755 (GRCm39) missense probably damaging 1.00
IGL03121:Hsd17b1 APN 11 100,970,870 (GRCm39) nonsense probably null
R2184:Hsd17b1 UTSW 11 100,969,357 (GRCm39) missense probably benign 0.05
R2237:Hsd17b1 UTSW 11 100,970,652 (GRCm39) missense probably damaging 1.00
R2239:Hsd17b1 UTSW 11 100,969,289 (GRCm39) missense probably damaging 1.00
R2380:Hsd17b1 UTSW 11 100,969,289 (GRCm39) missense probably damaging 1.00
R3777:Hsd17b1 UTSW 11 100,969,529 (GRCm39) missense probably damaging 1.00
R5185:Hsd17b1 UTSW 11 100,971,024 (GRCm39) missense possibly damaging 0.49
R6701:Hsd17b1 UTSW 11 100,970,981 (GRCm39) nonsense probably null
R7108:Hsd17b1 UTSW 11 100,970,035 (GRCm39) missense probably damaging 1.00
R7396:Hsd17b1 UTSW 11 100,970,033 (GRCm39) missense probably damaging 1.00
R9171:Hsd17b1 UTSW 11 100,969,832 (GRCm39) missense probably damaging 1.00
R9462:Hsd17b1 UTSW 11 100,969,806 (GRCm39) missense possibly damaging 0.72
Z1177:Hsd17b1 UTSW 11 100,970,571 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGTGCAAACGGAGTCTC -3'
(R):5'- ACATGAATTGTCCTGACCCGG -3'

Sequencing Primer
(F):5'- AAACGGAGTCTCGGGCAC -3'
(R):5'- AATTCAGATGCCACCCTAGGGATTG -3'
Posted On 2015-07-21