Incidental Mutation 'R2845:Hsd3b1'
ID 251497
Institutional Source Beutler Lab
Gene Symbol Hsd3b1
Ensembl Gene ENSMUSG00000027871
Gene Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
Synonyms D3Ertd383e
MMRRC Submission 040438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R2845 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 98759510-98767110 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98760094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 299 (E299G)
Ref Sequence ENSEMBL: ENSMUSP00000102630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029465] [ENSMUST00000107016]
AlphaFold P24815
Predicted Effect probably damaging
Transcript: ENSMUST00000029465
AA Change: E299G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: E299G

DomainStartEndE-ValueType
Pfam:Epimerase 24 248 3.8e-23 PFAM
Pfam:NAD_binding_4 25 226 3.4e-18 PFAM
Pfam:Polysacc_synt_2 30 129 1.3e-8 PFAM
Pfam:3Beta_HSD 34 282 1.8e-102 PFAM
Pfam:NAD_binding_10 35 228 1.7e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107016
AA Change: E299G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: E299G

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 4 264 4.3e-8 PFAM
Pfam:KR 5 133 1.1e-7 PFAM
Pfam:Ldh_1_N 5 135 4.3e-7 PFAM
Pfam:Polysacc_synt_2 6 136 3e-14 PFAM
Pfam:NmrA 6 138 6.2e-10 PFAM
Pfam:Epimerase 6 250 2.9e-30 PFAM
Pfam:GDP_Man_Dehyd 7 216 6.6e-16 PFAM
Pfam:3Beta_HSD 7 288 2.1e-122 PFAM
Pfam:NAD_binding_4 8 219 4e-21 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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 is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 C T 6: 87,436,949 (GRCm39) E634K possibly damaging Het
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cep152 A G 2: 125,429,894 (GRCm39) I676T probably damaging Het
Cherp C A 8: 73,220,247 (GRCm39) A449S probably damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Cplane1 G A 15: 8,245,864 (GRCm39) R1412H probably damaging Het
Csnk1g2 A G 10: 80,474,438 (GRCm39) S220G probably damaging Het
Efcab7 T A 4: 99,766,835 (GRCm39) V20D probably damaging Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Frem3 T C 8: 81,339,849 (GRCm39) F714S probably damaging Het
Gpx6 A T 13: 21,503,045 (GRCm39) probably null Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Mrgpra2a T A 7: 47,076,878 (GRCm39) M127L probably benign Het
Or10al3 T C 17: 38,011,714 (GRCm39) I51T probably damaging Het
Pign C A 1: 105,585,521 (GRCm39) L9F possibly damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Plekhh3 T C 11: 101,061,056 (GRCm39) probably benign Het
Pramel22 G A 4: 143,380,868 (GRCm39) S385F probably damaging Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Ptpru T A 4: 131,546,972 (GRCm39) I168F probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Skint10 T C 4: 112,573,023 (GRCm39) S258G probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tas2r138 T C 6: 40,589,701 (GRCm39) S182G probably benign Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp24 G T 18: 24,150,885 (GRCm39) T87K probably damaging Het
Zfp407 G T 18: 84,576,522 (GRCm39) C1530* probably null Het
Other mutations in Hsd3b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Hsd3b1 APN 3 98,760,562 (GRCm39) missense probably damaging 1.00
IGL01955:Hsd3b1 APN 3 98,760,463 (GRCm39) missense probably benign 0.08
IGL02894:Hsd3b1 APN 3 98,760,245 (GRCm39) missense possibly damaging 0.88
IGL03136:Hsd3b1 APN 3 98,760,301 (GRCm39) missense probably damaging 1.00
R0265:Hsd3b1 UTSW 3 98,760,089 (GRCm39) missense probably damaging 1.00
R0326:Hsd3b1 UTSW 3 98,760,590 (GRCm39) missense probably damaging 1.00
R0390:Hsd3b1 UTSW 3 98,760,355 (GRCm39) missense probably damaging 1.00
R1532:Hsd3b1 UTSW 3 98,760,214 (GRCm39) missense probably damaging 1.00
R2846:Hsd3b1 UTSW 3 98,760,094 (GRCm39) missense probably damaging 1.00
R2898:Hsd3b1 UTSW 3 98,760,623 (GRCm39) missense probably benign 0.00
R3153:Hsd3b1 UTSW 3 98,759,980 (GRCm39) missense probably damaging 0.99
R3950:Hsd3b1 UTSW 3 98,763,454 (GRCm39) missense possibly damaging 0.79
R4456:Hsd3b1 UTSW 3 98,763,459 (GRCm39) missense probably benign 0.01
R4792:Hsd3b1 UTSW 3 98,760,226 (GRCm39) missense probably benign 0.22
R4799:Hsd3b1 UTSW 3 98,760,181 (GRCm39) missense probably benign 0.07
R4898:Hsd3b1 UTSW 3 98,760,642 (GRCm39) missense probably benign 0.12
R5512:Hsd3b1 UTSW 3 98,760,521 (GRCm39) missense probably benign 0.06
R5834:Hsd3b1 UTSW 3 98,760,255 (GRCm39) missense possibly damaging 0.60
R5921:Hsd3b1 UTSW 3 98,765,215 (GRCm39) missense probably benign 0.06
R6221:Hsd3b1 UTSW 3 98,760,472 (GRCm39) missense probably benign 0.00
R6918:Hsd3b1 UTSW 3 98,760,425 (GRCm39) missense probably damaging 0.98
R7058:Hsd3b1 UTSW 3 98,765,131 (GRCm39) splice site probably null
R7242:Hsd3b1 UTSW 3 98,760,526 (GRCm39) missense probably damaging 1.00
R8181:Hsd3b1 UTSW 3 98,763,453 (GRCm39) missense probably damaging 1.00
R8187:Hsd3b1 UTSW 3 98,759,933 (GRCm39) missense probably damaging 1.00
R8237:Hsd3b1 UTSW 3 98,760,426 (GRCm39) missense possibly damaging 0.65
R8695:Hsd3b1 UTSW 3 98,760,223 (GRCm39) missense probably damaging 1.00
R8939:Hsd3b1 UTSW 3 98,760,299 (GRCm39) missense probably damaging 1.00
R9013:Hsd3b1 UTSW 3 98,759,977 (GRCm39) missense probably damaging 1.00
R9188:Hsd3b1 UTSW 3 98,760,216 (GRCm39) missense probably damaging 1.00
Z1176:Hsd3b1 UTSW 3 98,760,202 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTGGCACTTTGTGTCCAATATC -3'
(R):5'- CTTCGAGACCCCAAGAAGTC -3'

Sequencing Primer
(F):5'- ATTGTCCCTATCCACTCTGAGG -3'
(R):5'- GTCTACAAGCATCCAAGGACAGTTC -3'
Posted On 2014-12-04