Incidental Mutation 'R3950:Hsd3b1'
ID 307857
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 040930-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R3950 (G1)
Quality Score 116
Status Not validated
Chromosome 3
Chromosomal Location 98759510-98767110 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98763454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 56 (V56M)
Ref Sequence ENSEMBL: ENSMUSP00000102630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029465] [ENSMUST00000107016]
AlphaFold P24815
Predicted Effect possibly damaging
Transcript: ENSMUST00000029465
AA Change: V56M

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: V56M

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 possibly damaging
Transcript: ENSMUST00000107016
AA Change: V56M

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: V56M

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: 97.3%
  • 20x: 95.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Ahnak2 A T 12: 112,749,409 (GRCm39) I186N probably damaging Het
Appbp2 A G 11: 85,085,532 (GRCm39) I458T probably damaging Het
Arhgef25 T C 10: 127,021,013 (GRCm39) Y291C probably damaging Het
Ate1 T C 7: 130,069,022 (GRCm39) Y415C probably damaging Het
B4galt4 G T 16: 38,588,384 (GRCm39) A72S probably benign Het
C3 T C 17: 57,532,286 (GRCm39) R178G probably benign Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Col11a1 T C 3: 113,915,094 (GRCm39) probably null Het
Col22a1 A G 15: 71,849,207 (GRCm39) F294L possibly damaging Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Dync2h1 A T 9: 7,112,061 (GRCm39) Y276* probably null Het
Eea1 A T 10: 95,877,996 (GRCm39) N1389I probably damaging Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fezf1 T A 6: 23,247,419 (GRCm39) K219* probably null Het
Fsd1 G A 17: 56,302,517 (GRCm39) probably null Het
Haspin A G 11: 73,027,221 (GRCm39) Y623H probably damaging Het
Hyou1 C T 9: 44,296,524 (GRCm39) T483I probably damaging Het
Kdm2a A G 19: 4,393,260 (GRCm39) L365S possibly damaging Het
Kdm6b G T 11: 69,296,441 (GRCm39) P609T probably damaging Het
Klhl18 T A 9: 110,257,970 (GRCm39) Y490F probably damaging Het
Ky C T 9: 102,419,627 (GRCm39) Q545* probably null Het
L1td1 T C 4: 98,625,590 (GRCm39) L595P probably benign Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Mug1 T A 6: 121,855,489 (GRCm39) V941E probably damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Ninl A T 2: 150,794,408 (GRCm39) I740K possibly damaging Het
Npepl1 A G 2: 173,962,906 (GRCm39) N431D probably damaging Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Pacs2 T C 12: 113,024,733 (GRCm39) S408P probably damaging Het
Pard6b C T 2: 167,941,114 (GRCm39) T367I probably damaging Het
Pcdhga7 A G 18: 37,849,568 (GRCm39) E525G probably damaging Het
Pctp A G 11: 89,878,144 (GRCm39) I130T probably benign Het
Pcx C T 19: 4,667,995 (GRCm39) H506Y probably benign Het
Pdhx A G 2: 102,865,586 (GRCm39) S199P probably damaging Het
Pdia2 C A 17: 26,416,590 (GRCm39) probably null Het
Pif1 C A 9: 65,499,116 (GRCm39) N445K probably damaging Het
Prickle4 T C 17: 47,999,507 (GRCm39) K349E probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpdc1 A T 13: 48,742,670 (GRCm39) M173K probably damaging Het
Rb1 A G 14: 73,500,102 (GRCm39) L515P probably damaging Het
Rcvrn A G 11: 67,590,877 (GRCm39) K154E probably damaging Het
Ros1 C T 10: 51,942,484 (GRCm39) V2059I probably damaging Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Sema5a T C 15: 32,689,484 (GRCm39) Y1050H probably damaging Het
Slc25a28 C T 19: 43,652,708 (GRCm39) V318I probably benign Het
Srek1 G A 13: 103,881,403 (GRCm39) R408W unknown Het
Synrg C T 11: 83,880,641 (GRCm39) T444I probably damaging Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Tmem127 T C 2: 127,090,577 (GRCm39) L31P probably damaging Het
Tmprss15 T A 16: 78,870,074 (GRCm39) T190S probably benign Het
Trip10 T A 17: 57,560,411 (GRCm39) probably null Het
Ttc6 A G 12: 57,696,292 (GRCm39) Y31C probably damaging Het
Unc80 A T 1: 66,661,729 (GRCm39) H1718L possibly damaging Het
Zbtb38 A G 9: 96,569,599 (GRCm39) F495S probably damaging Het
Zfp280d G T 9: 72,203,301 (GRCm39) Q16H possibly damaging Het
Zfp521 A G 18: 13,979,403 (GRCm39) S337P probably damaging Het
Zswim9 T A 7: 12,995,503 (GRCm39) T218S possibly damaging 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
R2845:Hsd3b1 UTSW 3 98,760,094 (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
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'- TGGGCTCCATACTTTCCCAG -3'
(R):5'- ACTGCTCAGATGCATTTTGTAC -3'

Sequencing Primer
(F):5'- GGTACTGTACCTTTCAGATTGACATC -3'
(R):5'- GCTCAGATGCATTTTGTACAAAGGG -3'
Posted On 2015-04-17