Incidental Mutation 'R4792:Hsd3b1'
ID 368654
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 042419-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R4792 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 98759510-98767110 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98760226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 255 (Y255F)
Ref Sequence ENSEMBL: ENSMUSP00000102630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029465] [ENSMUST00000107016]
AlphaFold P24815
Predicted Effect probably benign
Transcript: ENSMUST00000029465
AA Change: Y255F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: Y255F

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 benign
Transcript: ENSMUST00000107016
AA Change: Y255F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: Y255F

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
Meta Mutation Damage Score 0.2309 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (89/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik A G 16: 88,504,651 (GRCm39) S49P possibly damaging Het
Abcb1a T C 5: 8,796,657 (GRCm39) probably null Het
Adgb G A 10: 10,274,647 (GRCm39) T770I probably damaging Het
Adgre4 A T 17: 56,098,491 (GRCm39) T134S probably benign Het
Aldh1a1 A G 19: 20,597,349 (GRCm39) N110S probably damaging Het
Alox5 C A 6: 116,437,964 (GRCm39) V8L possibly damaging Het
Ambra1 A G 2: 91,603,191 (GRCm39) T392A possibly damaging Het
Apob A G 12: 8,058,051 (GRCm39) I2145V probably benign Het
Arhgap39 A G 15: 76,625,717 (GRCm39) Y196H possibly damaging Het
Armh2 A G 13: 24,930,490 (GRCm39) probably benign Het
Carmil1 A G 13: 24,251,173 (GRCm39) L439S probably damaging Het
Carmil1 A T 13: 24,325,659 (GRCm39) S224T possibly damaging Het
Cfh G A 1: 140,028,561 (GRCm39) Q706* probably null Het
Chd2 A C 7: 73,118,325 (GRCm39) S1098A probably benign Het
Chrna5 A T 9: 54,911,985 (GRCm39) I158F probably damaging Het
Cilk1 A G 9: 78,060,975 (GRCm39) D207G probably damaging Het
Col6a5 T C 9: 105,807,983 (GRCm39) T1022A unknown Het
Cul7 T A 17: 46,967,976 (GRCm39) Y423* probably null Het
Cyp2e1 T C 7: 140,353,588 (GRCm39) Y342H probably benign Het
D630045J12Rik T C 6: 38,125,275 (GRCm39) K1580E probably damaging Het
Dnah6 A G 6: 73,066,651 (GRCm39) M2573T probably damaging Het
Dnai4 T C 4: 102,929,881 (GRCm39) K370R possibly damaging Het
Edem1 T A 6: 108,805,707 (GRCm39) probably benign Het
Erp29 C T 5: 121,585,237 (GRCm39) E86K probably benign Het
Esrp2 C A 8: 106,859,141 (GRCm39) R535L probably damaging Het
Gabrb2 C T 11: 42,420,330 (GRCm39) probably benign Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Herc1 T A 9: 66,403,266 (GRCm39) V4395E possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgb2 G A 8: 57,966,344 (GRCm39) C106Y probably damaging Het
Hoxa10 T C 6: 52,209,481 (GRCm39) probably benign Het
Ighd T C 12: 113,379,819 (GRCm39) K42E probably benign Het
Ighv1-26 T C 12: 114,752,191 (GRCm39) Y51C possibly damaging Het
Ighv5-2 C T 12: 113,542,419 (GRCm39) E19K possibly damaging Het
Ipo11 T C 13: 106,970,668 (GRCm39) probably benign Het
Itk C T 11: 46,235,658 (GRCm39) probably benign Het
Kat6a T A 8: 23,430,592 (GRCm39) H1982Q unknown Het
Kdm4d C T 9: 14,374,686 (GRCm39) V391I probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lgr6 T A 1: 134,949,544 (GRCm39) S229C probably benign Het
Lhx9 T A 1: 138,766,089 (GRCm39) Y233F possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mapk4 T C 18: 74,070,321 (GRCm39) T191A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naglu C T 11: 100,961,932 (GRCm39) T135M probably damaging Het
Nomo1 T A 7: 45,693,643 (GRCm39) probably null Het
Nop56 T A 2: 130,119,784 (GRCm39) V75E possibly damaging Het
Nr1i3 G A 1: 171,046,164 (GRCm39) C283Y probably damaging Het
Or4x6 T A 2: 89,949,174 (GRCm39) Y256F possibly damaging Het
Or51d1 G A 7: 102,347,933 (GRCm39) G163R probably damaging Het
Or6c38 T G 10: 128,929,489 (GRCm39) Y118S probably damaging Het
Pcdhga2 A G 18: 37,802,452 (GRCm39) S99G probably benign Het
Pcnx1 T A 12: 81,965,925 (GRCm39) D697E probably damaging Het
Plxnb1 G A 9: 108,939,716 (GRCm39) D1462N probably damaging Het
Pnn G T 12: 59,118,991 (GRCm39) V525F possibly damaging Het
Prrc2a A T 17: 35,375,463 (GRCm39) D1062E probably damaging Het
Prss35 T A 9: 86,637,722 (GRCm39) V164E probably damaging Het
Psapl1 T C 5: 36,362,547 (GRCm39) S380P probably benign Het
Rnf222 A T 11: 68,783,845 (GRCm39) E137D probably damaging Het
Rsph10b A G 5: 143,874,135 (GRCm39) T79A probably damaging Het
Sbf2 T C 7: 109,950,817 (GRCm39) Q1164R probably damaging Het
Scn7a T C 2: 66,556,592 (GRCm39) D331G probably damaging Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Sspo G A 6: 48,438,519 (GRCm39) S1529N probably benign Het
St8sia3 T A 18: 64,398,634 (GRCm39) V31E probably benign Het
Sult1b1 A T 5: 87,662,906 (GRCm39) W265R probably damaging Het
Supt5 G T 7: 28,015,754 (GRCm39) Q863K probably benign Het
Tbc1d31 A G 15: 57,804,124 (GRCm39) R380G probably benign Het
Tdpoz1 T A 3: 93,577,845 (GRCm39) D313V possibly damaging Het
Tmem260 CAGGGACCGGCATAG CAG 14: 48,749,451 (GRCm39) probably benign Het
Tpx2 A T 2: 152,727,016 (GRCm39) T428S probably damaging Het
Trip11 A T 12: 101,851,705 (GRCm39) H786Q probably benign Het
Trpc6 A T 9: 8,626,615 (GRCm39) M322L probably benign Het
Try10 T C 6: 41,332,386 (GRCm39) V14A probably benign Het
Unc13d A T 11: 115,961,108 (GRCm39) F416L probably damaging Het
Vmn2r75 A T 7: 85,812,378 (GRCm39) M547K possibly damaging Het
Zbp1 A G 2: 173,051,006 (GRCm39) F288S probably damaging Het
Zc3h11a T A 1: 133,568,436 (GRCm39) Q71L probably damaging Het
Zfp40 G A 17: 23,396,008 (GRCm39) T193I possibly damaging Het
Zfp607a T C 7: 27,578,078 (GRCm39) Y383H probably benign Het
Zfp622 T A 15: 25,987,128 (GRCm39) Y82* probably null Het
Zfp964 T C 8: 70,116,665 (GRCm39) F422L probably benign 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
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
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'- ACCTGTAGACTGGACGTAGC -3'
(R):5'- GTGGCACTTTGAATACTTGTGCC -3'

Sequencing Primer
(F):5'- CTGGACGTAGCAGGAAGC -3'
(R):5'- GAATACTTGTGCCTTAAGACCCATG -3'
Posted On 2016-02-04