Incidental Mutation 'R6928:Hsd3b6'
ID 539831
Institutional Source Beutler Lab
Gene Symbol Hsd3b6
Ensembl Gene ENSMUSG00000027869
Gene Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6
Synonyms 3beta-HSD VI
MMRRC Submission 045045-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R6928 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 98712820-98721759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98718269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 32 (I32V)
Ref Sequence ENSEMBL: ENSMUSP00000129911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029463] [ENSMUST00000170847]
AlphaFold O35469
Predicted Effect probably benign
Transcript: ENSMUST00000029463
AA Change: I32V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: I32V

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 6 135 1.2e-13 PFAM
Pfam:NmrA 6 136 6.3e-8 PFAM
Pfam:Epimerase 6 250 1.4e-26 PFAM
Pfam:GDP_Man_Dehyd 7 212 1.3e-13 PFAM
Pfam:3Beta_HSD 7 288 5.9e-114 PFAM
Pfam:NAD_binding_4 8 225 1.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170847
AA Change: I32V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: I32V

DomainStartEndE-ValueType
Pfam:KR 5 131 5.6e-7 PFAM
Pfam:adh_short 5 133 2.7e-8 PFAM
Pfam:Polysacc_synt_2 6 135 2.2e-13 PFAM
Pfam:NmrA 6 136 2.3e-8 PFAM
Pfam:NAD_binding_10 6 221 2.3e-10 PFAM
Pfam:Epimerase 6 256 4.5e-27 PFAM
Pfam:3Beta_HSD 7 288 1.9e-113 PFAM
Pfam:NAD_binding_4 8 226 2.7e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.5%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 A G 6: 55,456,257 (GRCm39) D215G possibly damaging Het
Asb3 A T 11: 30,948,326 (GRCm39) M40L probably damaging Het
Aspg G A 12: 112,093,123 (GRCm39) V547M possibly damaging Het
Aspm T A 1: 139,407,944 (GRCm39) L2277* probably null Het
Atp7b A G 8: 22,484,828 (GRCm39) S1295P probably benign Het
Cdca2 A G 14: 67,943,193 (GRCm39) S199P probably damaging Het
Cdh1 A G 8: 107,387,642 (GRCm39) E514G possibly damaging Het
Cenpk G T 13: 104,365,500 (GRCm39) probably benign Het
Col6a5 C A 9: 105,817,118 (GRCm39) V398L unknown Het
Colec10 A T 15: 54,326,002 (GRCm39) K277N probably damaging Het
Cryzl2 T G 1: 157,298,357 (GRCm39) S249A probably benign Het
Cspg4 T A 9: 56,805,164 (GRCm39) Y1992N possibly damaging Het
Drd3 G T 16: 43,641,683 (GRCm39) R333L probably benign Het
Espl1 C T 15: 102,207,342 (GRCm39) R269C probably benign Het
Esr2 C T 12: 76,212,252 (GRCm39) C188Y probably damaging Het
Focad A G 4: 88,267,112 (GRCm39) D1041G unknown Het
Frem3 T C 8: 81,337,911 (GRCm39) F68S possibly damaging Het
Gapdh A G 6: 125,139,634 (GRCm39) V212A probably damaging Het
Gzmb T C 14: 56,497,734 (GRCm39) K169E probably benign Het
Hexd T A 11: 121,102,880 (GRCm39) F33I possibly damaging Het
Jcad T C 18: 4,673,372 (GRCm39) V378A probably benign Het
Kcnmb2 T C 3: 32,253,190 (GRCm39) S177P probably benign Het
Lrriq1 A T 10: 103,050,800 (GRCm39) S651T possibly damaging Het
Map3k2 T C 18: 32,340,593 (GRCm39) probably null Het
Mib1 T G 18: 10,802,282 (GRCm39) S870A probably benign Het
Moap1 T A 12: 102,708,871 (GRCm39) N226I probably damaging Het
Moxd1 T A 10: 24,176,186 (GRCm39) N547K probably damaging Het
Mtmr9 A G 14: 63,781,042 (GRCm39) V16A probably benign Het
Nme1 T C 11: 93,850,229 (GRCm39) Y151C probably damaging Het
Nwd1 T C 8: 73,408,653 (GRCm39) F879L probably benign Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or52ac1 A T 7: 104,245,796 (GRCm39) Y197* probably null Het
Or5ac25 C A 16: 59,181,826 (GRCm39) G252C probably damaging Het
Or5b102 A T 19: 13,041,348 (GRCm39) H191L probably benign Het
Or5b99 A G 19: 12,977,202 (GRCm39) N284S probably damaging Het
Or8d23 T C 9: 38,841,862 (GRCm39) Y132H probably damaging Het
Or8g21 T C 9: 38,905,928 (GRCm39) M268V probably benign Het
Pcdhb21 A G 18: 37,647,474 (GRCm39) E201G probably damaging Het
Plscr1 T C 9: 92,152,004 (GRCm39) V301A possibly damaging Het
Psg28 A T 7: 18,157,003 (GRCm39) S411T possibly damaging Het
Rif1 T C 2: 51,985,973 (GRCm39) W653R probably damaging Het
Rnd3 T A 2: 51,022,518 (GRCm39) I175L probably benign Het
Rtn4 A G 11: 29,656,791 (GRCm39) E199G possibly damaging Het
Sgpp1 T C 12: 75,763,344 (GRCm39) Y279C probably damaging Het
Slc2a13 A G 15: 91,160,382 (GRCm39) I524T probably damaging Het
Speer4a2 A G 5: 26,290,586 (GRCm39) probably null Het
Spg11 C T 2: 121,900,385 (GRCm39) V1556I probably benign Het
Spopfm1 T A 3: 94,173,855 (GRCm39) C288S probably benign Het
Srebf2 C T 15: 82,087,924 (GRCm39) R215* probably null Het
Tdpoz8 G A 3: 92,981,267 (GRCm39) C95Y probably damaging Het
Tmem19 T C 10: 115,183,179 (GRCm39) N147S possibly damaging Het
Tpr T C 1: 150,284,536 (GRCm39) S408P possibly damaging Het
Trav13d-4 C T 14: 53,310,618 (GRCm39) T53I probably damaging Het
Trf T A 9: 103,099,307 (GRCm39) R168W possibly damaging Het
Trim11 A G 11: 58,879,669 (GRCm39) K273R probably damaging Het
Tsacc T A 3: 88,190,247 (GRCm39) M68L probably benign Het
Ttn T A 2: 76,584,869 (GRCm39) M22110L probably benign Het
Zfp160 G T 17: 21,261,724 (GRCm39) G104V probably benign Het
Zfp582 T C 7: 6,357,266 (GRCm39) Y360H probably damaging Het
Zranb1 G A 7: 132,568,323 (GRCm39) R301H possibly damaging Het
Other mutations in Hsd3b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Hsd3b6 APN 3 98,713,594 (GRCm39) missense probably damaging 1.00
IGL00940:Hsd3b6 APN 3 98,713,940 (GRCm39) missense probably damaging 1.00
IGL02030:Hsd3b6 APN 3 98,713,489 (GRCm39) missense probably benign 0.07
IGL02385:Hsd3b6 APN 3 98,713,888 (GRCm39) missense possibly damaging 0.67
IGL02819:Hsd3b6 APN 3 98,718,262 (GRCm39) missense probably benign 0.00
IGL03381:Hsd3b6 APN 3 98,715,128 (GRCm39) missense possibly damaging 0.83
R1444:Hsd3b6 UTSW 3 98,715,237 (GRCm39) missense probably benign 0.01
R1472:Hsd3b6 UTSW 3 98,715,255 (GRCm39) splice site probably null
R1996:Hsd3b6 UTSW 3 98,713,597 (GRCm39) missense probably damaging 0.98
R2101:Hsd3b6 UTSW 3 98,713,553 (GRCm39) missense possibly damaging 0.95
R2108:Hsd3b6 UTSW 3 98,713,503 (GRCm39) nonsense probably null
R4579:Hsd3b6 UTSW 3 98,713,541 (GRCm39) missense probably damaging 0.98
R4628:Hsd3b6 UTSW 3 98,713,895 (GRCm39) missense possibly damaging 0.93
R4808:Hsd3b6 UTSW 3 98,713,601 (GRCm39) missense probably damaging 1.00
R4850:Hsd3b6 UTSW 3 98,715,221 (GRCm39) missense probably benign 0.12
R5093:Hsd3b6 UTSW 3 98,715,120 (GRCm39) missense probably benign 0.01
R6221:Hsd3b6 UTSW 3 98,713,849 (GRCm39) missense probably benign
R6333:Hsd3b6 UTSW 3 98,713,540 (GRCm39) missense probably damaging 1.00
R7404:Hsd3b6 UTSW 3 98,713,534 (GRCm39) missense probably benign 0.02
R7814:Hsd3b6 UTSW 3 98,718,259 (GRCm39) missense probably damaging 1.00
R8092:Hsd3b6 UTSW 3 98,713,456 (GRCm39) missense possibly damaging 0.88
R9055:Hsd3b6 UTSW 3 98,713,984 (GRCm39) missense probably damaging 1.00
R9249:Hsd3b6 UTSW 3 98,713,679 (GRCm39) missense probably benign 0.01
R9714:Hsd3b6 UTSW 3 98,713,645 (GRCm39) missense probably benign 0.00
RF001:Hsd3b6 UTSW 3 98,713,756 (GRCm39) missense probably benign 0.00
X0023:Hsd3b6 UTSW 3 98,713,849 (GRCm39) missense probably benign
Z1088:Hsd3b6 UTSW 3 98,713,648 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TGACCAATGTGGACATGGAG -3'
(R):5'- CTCCTGATCTGTGCTATGGGAG -3'

Sequencing Primer
(F):5'- GAAGTGTTAGGACTGAAAGTGTC -3'
(R):5'- TGGGGAAATCACCAGATCTCTCTC -3'
Posted On 2018-11-06