Incidental Mutation 'R2108:Hsd3b6'
ID 232235
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 040112-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R2108 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 98712820-98721759 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 98713503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 265 (Y265*)
Ref Sequence ENSEMBL: ENSMUSP00000129911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029463] [ENSMUST00000170847]
AlphaFold O35469
Predicted Effect probably null
Transcript: ENSMUST00000029463
AA Change: Y265*
SMART Domains Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: Y265*

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 null
Transcript: ENSMUST00000170847
AA Change: Y265*
SMART Domains Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: Y265*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196706
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd10 A G 16: 45,552,303 (GRCm39) M190T probably benign Het
Abhd5 A G 9: 122,207,005 (GRCm39) Y250C probably damaging Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Adamtsl2 A G 2: 26,985,570 (GRCm39) M485V probably benign Het
Adamtsl4 G T 3: 95,588,357 (GRCm39) P577H probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apc T C 18: 34,402,282 (GRCm39) Y141H probably damaging Het
Arsi A T 18: 61,049,443 (GRCm39) T109S possibly damaging Het
Asb3 G A 11: 31,031,355 (GRCm39) probably null Het
Atm T C 9: 53,355,297 (GRCm39) D2899G probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Bub1 T C 2: 127,661,255 (GRCm39) K279E probably damaging Het
C3 A T 17: 57,530,974 (GRCm39) probably null Het
Cabcoco1 T C 10: 68,267,153 (GRCm39) K185E probably benign Het
Cadm2 A T 16: 66,528,357 (GRCm39) I326N probably benign Het
Ccr3 T C 9: 123,829,336 (GRCm39) S224P possibly damaging Het
Cdhr4 A G 9: 107,874,843 (GRCm39) T638A probably damaging Het
Cfap46 T C 7: 139,263,677 (GRCm39) I4V probably benign Het
Csf2rb2 A T 15: 78,176,744 (GRCm39) V216E probably damaging Het
Csmd3 A T 15: 47,868,257 (GRCm39) D754E possibly damaging Het
Dnaaf1 T C 8: 120,309,471 (GRCm39) probably null Het
Dnah11 A C 12: 117,984,088 (GRCm39) Y2466D probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
E2f7 T C 10: 110,616,763 (GRCm39) Y668H probably benign Het
Ehmt1 A T 2: 24,727,630 (GRCm39) S735T probably damaging Het
Eomes T C 9: 118,307,920 (GRCm39) F65L probably benign Het
Ercc6l2 T C 13: 64,019,802 (GRCm39) probably benign Het
Fbrsl1 A T 5: 110,526,300 (GRCm39) L439Q probably damaging Het
Fyco1 C T 9: 123,626,581 (GRCm39) probably null Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gm7735 G A 16: 88,966,433 (GRCm39) G19D unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpr6 T A 10: 40,946,649 (GRCm39) Y311F possibly damaging Het
Gprc6a A T 10: 51,491,304 (GRCm39) V744E probably damaging Het
Grin3a C T 4: 49,665,510 (GRCm39) D1042N possibly damaging Het
Gstm3 A G 3: 107,873,450 (GRCm39) C174R probably damaging Het
Hectd4 A G 5: 121,471,487 (GRCm39) E2670G possibly damaging Het
Hus1 T A 11: 8,961,110 (GRCm39) M1L probably null Het
Idi2l G A 13: 8,991,764 (GRCm39) P221S possibly damaging Het
Ifi213 T G 1: 173,396,668 (GRCm39) probably null Het
Igf2r A C 17: 12,917,138 (GRCm39) N1587K probably benign Het
Ints1 A T 5: 139,753,505 (GRCm39) V709E probably damaging Het
Ints8 C A 4: 11,235,552 (GRCm39) R359L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b C T 2: 41,000,769 (GRCm39) E2152K probably damaging Het
Lrp2 A T 2: 69,336,968 (GRCm39) V1268D possibly damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nfxl1 C A 5: 72,671,675 (GRCm39) probably null Het
Nrp2 T A 1: 62,783,436 (GRCm39) I179N probably damaging Het
Nup153 A G 13: 46,846,986 (GRCm39) probably null Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or2g7 G T 17: 38,378,746 (GRCm39) R228L possibly damaging Het
Or5p54 A T 7: 107,554,709 (GRCm39) H287L probably benign Het
Or6c6c A T 10: 129,541,490 (GRCm39) I248L probably benign Het
Or8g27 A T 9: 39,129,318 (GRCm39) I222F probably damaging Het
P2ry12 A T 3: 59,124,774 (GRCm39) D300E probably damaging Het
Pkhd1 C A 1: 20,623,798 (GRCm39) G766* probably null Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Prkcq A T 2: 11,237,380 (GRCm39) Y53F probably damaging Het
Psg18 T C 7: 18,084,799 (GRCm39) E99G probably damaging Het
Ptprz1 T A 6: 23,033,476 (GRCm39) H1921Q probably damaging Het
Rcc1l A G 5: 134,184,629 (GRCm39) V391A probably benign Het
Sdr42e1 C T 8: 118,391,763 (GRCm39) V11I probably damaging Het
Slc12a3 C A 8: 95,067,158 (GRCm39) N404K probably damaging Het
Slc38a4 T C 15: 96,906,878 (GRCm39) M287V probably benign Het
Slc6a8 A T X: 72,720,492 (GRCm39) I96F possibly damaging Het
Smyd2 A G 1: 189,629,623 (GRCm39) S136P probably damaging Het
Sox11 A G 12: 27,391,702 (GRCm39) Y236H probably damaging Het
Tbc1d2 G A 4: 46,637,652 (GRCm39) P198L possibly damaging Het
Tcof1 G T 18: 60,968,845 (GRCm39) A256E probably damaging Het
Tenm4 A G 7: 96,555,497 (GRCm39) Y2726C probably damaging Het
Tnfsf14 T A 17: 57,497,867 (GRCm39) R122W probably damaging Het
Tril T C 6: 53,796,068 (GRCm39) T385A probably damaging Het
Trrap A G 5: 144,762,684 (GRCm39) T2386A probably benign Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Uba7 A G 9: 107,856,487 (GRCm39) M595V probably benign Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vmn2r69 T C 7: 85,059,404 (GRCm39) I502V probably benign Het
Vps13d C A 4: 144,801,617 (GRCm39) G419C probably damaging Het
Zbtb25 A T 12: 76,396,880 (GRCm39) M114K probably benign Het
Zcchc4 A G 5: 52,953,474 (GRCm39) Y161C probably damaging Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Zfp326 A G 5: 106,062,646 (GRCm39) probably benign Het
Zfp395 T A 14: 65,630,565 (GRCm39) S372T probably benign Het
Zfp423 T A 8: 88,507,806 (GRCm39) E825V possibly damaging Het
Zfp445 A T 9: 122,681,305 (GRCm39) Y879N probably benign Het
Zfp451 A G 1: 33,818,248 (GRCm39) I77T possibly damaging Het
Zfp85 A T 13: 67,897,003 (GRCm39) S356R probably benign 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
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
R6928:Hsd3b6 UTSW 3 98,718,269 (GRCm39) missense probably benign 0.03
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'- AGCTGACAAGTGGCTCATAGC -3'
(R):5'- ATATTCTCGGTTGTACGGGC -3'

Sequencing Primer
(F):5'- AAGTGAACGTGCTACCTGTC -3'
(R):5'- GTTGTACGGGCAAATTCTCCACAG -3'
Posted On 2014-09-18