Incidental Mutation 'R5897:Hsd17b3'
ID 457605
Institutional Source Beutler Lab
Gene Symbol Hsd17b3
Ensembl Gene ENSMUSG00000033122
Gene Name hydroxysteroid (17-beta) dehydrogenase 3
Synonyms 17(beta)HSD type 3
MMRRC Submission 044096-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5897 (G1)
Quality Score 140
Status Not validated
Chromosome 13
Chromosomal Location 64206080-64237044 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 64236799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039832] [ENSMUST00000166224] [ENSMUST00000222783] [ENSMUST00000222810]
AlphaFold P70385
Predicted Effect probably null
Transcript: ENSMUST00000039832
SMART Domains Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122

DomainStartEndE-ValueType
Pfam:adh_short 45 213 3.4e-26 PFAM
Pfam:adh_short_C2 51 272 1.2e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166224
SMART Domains Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122

DomainStartEndE-ValueType
Pfam:adh_short 45 240 2.4e-48 PFAM
Pfam:adh_short_C2 51 272 3.8e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000222783
Predicted Effect probably null
Transcript: ENSMUST00000222810
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,425,032 (GRCm39) T489A possibly damaging Het
Adam3 T C 8: 25,187,244 (GRCm39) T416A probably benign Het
Agbl3 A G 6: 34,780,508 (GRCm39) I494V probably benign Het
Akap9 T C 5: 4,127,904 (GRCm39) S3747P probably benign Het
Arhgef18 G T 8: 3,489,682 (GRCm39) R338L probably damaging Het
Atg16l1 G T 1: 87,713,719 (GRCm39) probably null Het
BC024139 A G 15: 76,010,339 (GRCm39) S56P possibly damaging Het
Ccdc121 T C 5: 31,643,308 (GRCm39) probably benign Het
Ccdc175 T A 12: 72,206,578 (GRCm39) I223L probably benign Het
Cdcp3 A T 7: 130,798,280 (GRCm39) probably null Het
Cep76 T A 18: 67,771,398 (GRCm39) Q78L probably benign Het
Cyp20a1 A C 1: 60,392,220 (GRCm39) N92T probably damaging Het
Cyp2c68 T C 19: 39,700,975 (GRCm39) D281G probably benign Het
Cyp2j12 T C 4: 95,990,279 (GRCm39) N429S probably damaging Het
Dchs2 G A 3: 83,192,717 (GRCm39) V1721I possibly damaging Het
Elovl4 G A 9: 83,672,157 (GRCm39) T54M possibly damaging Het
Fam13b A G 18: 34,587,134 (GRCm39) V542A possibly damaging Het
Gje1 A T 10: 14,592,467 (GRCm39) I105N probably damaging Het
Grm4 G T 17: 27,654,137 (GRCm39) F349L probably benign Het
Khdrbs1 A T 4: 129,614,448 (GRCm39) D368E probably benign Het
Klra10 T A 6: 130,258,792 (GRCm39) R32* probably null Het
Lrrc7 T A 3: 157,869,990 (GRCm39) I644F probably damaging Het
Or2i1 A T 17: 37,508,151 (GRCm39) L161Q probably damaging Het
Or2t1 G T 14: 14,328,120 (GRCm38) G3V probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pbx3 A T 2: 34,261,920 (GRCm39) S5T probably benign Het
Pcdhb13 T A 18: 37,576,264 (GRCm39) V214E probably benign Het
Pkd1l1 T C 11: 8,829,176 (GRCm39) D1022G probably benign Het
Pla2g4a T A 1: 149,740,899 (GRCm39) K380I probably damaging Het
Prl3b1 A G 13: 27,429,858 (GRCm39) T99A probably benign Het
Prr12 C T 7: 44,692,808 (GRCm39) V1575I probably damaging Het
Ptpn5 C T 7: 46,729,262 (GRCm39) V451I probably benign Het
Rab1a C T 11: 20,168,867 (GRCm39) R51* probably null Het
Skint9 A G 4: 112,271,113 (GRCm39) I99T possibly damaging Het
Tbc1d8 A G 1: 39,431,190 (GRCm39) V394A possibly damaging Het
Tcf20 A T 15: 82,735,984 (GRCm39) C1822* probably null Het
Tdrd6 T A 17: 43,935,768 (GRCm39) D1760V probably damaging Het
Tinag C A 9: 76,952,726 (GRCm39) C86F probably damaging Het
Tmtc2 A T 10: 105,249,459 (GRCm39) N91K probably damaging Het
Tmub1 G A 5: 24,651,925 (GRCm39) T13M probably benign Het
Txn2 G A 15: 77,808,726 (GRCm39) A135V probably benign Het
Ush2a G A 1: 188,553,935 (GRCm39) G3475R probably damaging Het
Usp38 T C 8: 81,732,082 (GRCm39) D276G probably benign Het
Vax1 T A 19: 59,158,233 (GRCm39) I77F unknown Het
Vmn2r108 C T 17: 20,691,580 (GRCm39) M314I probably benign Het
Vmn2r4 C A 3: 64,322,687 (GRCm39) G11* probably null Het
Zcchc14 T C 8: 122,331,899 (GRCm39) probably benign Het
Other mutations in Hsd17b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Hsd17b3 APN 13 64,210,719 (GRCm39) missense probably damaging 1.00
IGL02221:Hsd17b3 APN 13 64,236,865 (GRCm39) missense probably benign 0.01
IGL02257:Hsd17b3 APN 13 64,207,276 (GRCm39) missense probably benign 0.14
IGL02745:Hsd17b3 APN 13 64,234,990 (GRCm39) missense probably benign 0.01
IGL03189:Hsd17b3 APN 13 64,210,901 (GRCm39) critical splice donor site probably null
hermine UTSW 13 64,210,720 (GRCm39) missense probably damaging 1.00
IGL02988:Hsd17b3 UTSW 13 64,236,914 (GRCm39) missense probably damaging 0.96
R0116:Hsd17b3 UTSW 13 64,206,403 (GRCm39) missense possibly damaging 0.87
R0659:Hsd17b3 UTSW 13 64,221,750 (GRCm39) missense possibly damaging 0.87
R0684:Hsd17b3 UTSW 13 64,236,882 (GRCm39) missense probably benign
R0834:Hsd17b3 UTSW 13 64,236,936 (GRCm39) missense probably benign 0.00
R3750:Hsd17b3 UTSW 13 64,210,993 (GRCm39) splice site probably null
R3845:Hsd17b3 UTSW 13 64,236,876 (GRCm39) missense possibly damaging 0.94
R3973:Hsd17b3 UTSW 13 64,207,300 (GRCm39) missense probably damaging 1.00
R4602:Hsd17b3 UTSW 13 64,210,984 (GRCm39) critical splice acceptor site probably null
R5027:Hsd17b3 UTSW 13 64,210,720 (GRCm39) missense probably damaging 1.00
R5470:Hsd17b3 UTSW 13 64,221,713 (GRCm39) missense probably damaging 1.00
R5992:Hsd17b3 UTSW 13 64,207,284 (GRCm39) splice site probably null
R6898:Hsd17b3 UTSW 13 64,207,339 (GRCm39) missense probably benign 0.06
R7297:Hsd17b3 UTSW 13 64,224,165 (GRCm39) missense probably damaging 1.00
R7555:Hsd17b3 UTSW 13 64,219,816 (GRCm39) missense probably benign 0.17
R8743:Hsd17b3 UTSW 13 64,210,712 (GRCm39) missense probably benign 0.00
R8786:Hsd17b3 UTSW 13 64,219,862 (GRCm39) missense probably damaging 1.00
R8904:Hsd17b3 UTSW 13 64,212,194 (GRCm39) missense probably damaging 1.00
R8994:Hsd17b3 UTSW 13 64,210,695 (GRCm39) missense probably damaging 1.00
R9324:Hsd17b3 UTSW 13 64,206,459 (GRCm39) missense possibly damaging 0.49
R9649:Hsd17b3 UTSW 13 64,212,171 (GRCm39) missense probably damaging 1.00
Z1176:Hsd17b3 UTSW 13 64,210,952 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AGGTGAGAACTCGGTACCTCTG -3'
(R):5'- TAAAGACCAGGTCCAGCAGC -3'

Sequencing Primer
(F):5'- AACTCGGTACCTCTGCCTGG -3'
(R):5'- AGGTCCAGCAGCATCTCCAG -3'
Posted On 2017-02-15