Incidental Mutation 'R1631:Hsd3b5'
ID 172777
Institutional Source Beutler Lab
Gene Symbol Hsd3b5
Ensembl Gene ENSMUSG00000038092
Gene Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5
Synonyms 3(beta)HSDV
MMRRC Submission 039668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1631 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 98525950-98537568 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 98529393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 79 (V79G)
Ref Sequence ENSEMBL: ENSMUSP00000041442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044094]
AlphaFold Q61694
Predicted Effect probably damaging
Transcript: ENSMUST00000044094
AA Change: V79G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: V79G

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 4 261 1.8e-8 PFAM
Pfam:KR 5 133 3.2e-8 PFAM
Pfam:Polysacc_synt_2 6 134 5.9e-12 PFAM
Pfam:NmrA 6 147 2.7e-12 PFAM
Pfam:Epimerase 6 249 1.2e-23 PFAM
Pfam:GDP_Man_Dehyd 7 187 5.6e-12 PFAM
Pfam:3Beta_HSD 7 288 2e-105 PFAM
Pfam:NAD_binding_4 8 220 3.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196741
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,756,316 (GRCm39) S320T probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Als2 T C 1: 59,257,226 (GRCm39) E12G probably benign Het
Arhgef10 A T 8: 14,997,157 (GRCm39) D321V probably damaging Het
Atp8a1 T G 5: 67,906,395 (GRCm39) probably null Het
Avil A G 10: 126,846,494 (GRCm39) probably null Het
C2cd3 G A 7: 100,021,704 (GRCm39) probably null Het
Cdhr18 C T 14: 13,829,796 (GRCm38) E649K probably damaging Het
Col18a1 G A 10: 76,895,131 (GRCm39) P1177S probably damaging Het
Copb2 T A 9: 98,462,213 (GRCm39) F428L probably benign Het
Cpa1 A G 6: 30,640,923 (GRCm39) E138G probably damaging Het
Ctsm T C 13: 61,686,249 (GRCm39) I12V possibly damaging Het
Dctn1 A G 6: 83,174,578 (GRCm39) Q967R possibly damaging Het
Dok2 T C 14: 71,014,393 (GRCm39) Y194H probably damaging Het
Ezh2 C T 6: 47,554,592 (GRCm39) M1I probably null Het
Fkbp8 T A 8: 70,984,282 (GRCm39) L210Q probably damaging Het
Fpr1 T A 17: 18,097,263 (GRCm39) Q242L probably benign Het
Gal3st2b T A 1: 93,868,505 (GRCm39) D243E probably damaging Het
Gm5422 A G 10: 31,125,802 (GRCm39) noncoding transcript Het
Gucy1a2 A G 9: 3,533,052 (GRCm39) N84D probably damaging Het
Htr6 A T 4: 138,788,804 (GRCm39) V417E probably benign Het
Ifnar2 G A 16: 91,188,755 (GRCm39) V79I probably benign Het
Ighv10-1 T C 12: 114,443,102 (GRCm39) probably benign Het
Itpr2 A G 6: 146,081,788 (GRCm39) F182L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama3 A G 18: 12,540,551 (GRCm39) Y285C probably damaging Het
Lamc2 C A 1: 153,034,680 (GRCm39) V108L possibly damaging Het
Lrrc14b A G 13: 74,509,373 (GRCm39) probably null Het
Magi3 T C 3: 103,958,493 (GRCm39) T531A probably benign Het
Mapre2 A G 18: 23,966,011 (GRCm39) Y32C probably damaging Het
Med1 C T 11: 98,046,452 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nt5el C A 13: 105,218,749 (GRCm39) Q28K probably benign Het
Or10a3b A C 7: 108,445,064 (GRCm39) L51R probably damaging Het
Or51h1 A G 7: 102,308,408 (GRCm39) I127V probably damaging Het
Or5h23 G A 16: 58,906,408 (GRCm39) T146I probably benign Het
Or7a35 A T 10: 78,853,239 (GRCm39) I28L probably benign Het
Pde1b A G 15: 103,430,099 (GRCm39) T143A probably damaging Het
Pkhd1 T C 1: 20,593,121 (GRCm39) D1664G probably benign Het
Plod3 C T 5: 137,017,847 (GRCm39) R208W probably damaging Het
Pstk G A 7: 130,986,271 (GRCm39) A277T possibly damaging Het
Qrich1 T C 9: 108,411,684 (GRCm39) V403A probably damaging Het
Rad21 C A 15: 51,833,436 (GRCm39) V348F probably damaging Het
Sacs T A 14: 61,448,181 (GRCm39) L3409* probably null Het
Setd4 T A 16: 93,390,136 (GRCm39) K98* probably null Het
Skint5 A G 4: 113,341,123 (GRCm39) V1385A probably benign Het
Stam C A 2: 14,151,059 (GRCm39) S472* probably null Het
Stx2 A G 5: 129,069,289 (GRCm39) F141L probably damaging Het
Tia1 A G 6: 86,397,330 (GRCm39) D101G probably damaging Het
Ttc21a T A 9: 119,783,228 (GRCm39) probably null Het
Usp34 T A 11: 23,410,651 (GRCm39) N2700K probably damaging Het
Other mutations in Hsd3b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Hsd3b5 APN 3 98,537,373 (GRCm39) missense probably benign 0.05
IGL00827:Hsd3b5 APN 3 98,537,414 (GRCm39) missense probably benign 0.00
IGL01530:Hsd3b5 APN 3 98,526,439 (GRCm39) missense probably damaging 1.00
IGL01930:Hsd3b5 APN 3 98,529,475 (GRCm39) missense probably benign 0.01
IGL02363:Hsd3b5 APN 3 98,537,421 (GRCm39) missense probably benign 0.08
IGL02396:Hsd3b5 APN 3 98,529,343 (GRCm39) missense probably benign 0.05
IGL02448:Hsd3b5 APN 3 98,529,447 (GRCm39) missense probably damaging 1.00
R0045:Hsd3b5 UTSW 3 98,526,460 (GRCm39) missense probably benign
R0624:Hsd3b5 UTSW 3 98,526,720 (GRCm39) missense probably damaging 0.98
R0745:Hsd3b5 UTSW 3 98,526,855 (GRCm39) missense probably benign 0.12
R0848:Hsd3b5 UTSW 3 98,526,671 (GRCm39) missense probably damaging 1.00
R1112:Hsd3b5 UTSW 3 98,537,393 (GRCm39) missense probably benign 0.00
R1454:Hsd3b5 UTSW 3 98,526,846 (GRCm39) missense probably benign 0.01
R1657:Hsd3b5 UTSW 3 98,527,036 (GRCm39) missense possibly damaging 0.89
R1839:Hsd3b5 UTSW 3 98,527,044 (GRCm39) missense probably benign 0.30
R2930:Hsd3b5 UTSW 3 98,526,528 (GRCm39) missense probably benign 0.03
R2982:Hsd3b5 UTSW 3 98,527,116 (GRCm39) missense possibly damaging 0.88
R3158:Hsd3b5 UTSW 3 98,529,375 (GRCm39) missense probably benign 0.00
R4573:Hsd3b5 UTSW 3 98,526,964 (GRCm39) missense probably benign 0.04
R4941:Hsd3b5 UTSW 3 98,526,379 (GRCm39) missense probably damaging 1.00
R5104:Hsd3b5 UTSW 3 98,526,592 (GRCm39) missense probably damaging 1.00
R5416:Hsd3b5 UTSW 3 98,526,466 (GRCm39) missense probably damaging 1.00
R6311:Hsd3b5 UTSW 3 98,537,406 (GRCm39) missense possibly damaging 0.79
R6861:Hsd3b5 UTSW 3 98,529,328 (GRCm39) missense probably damaging 1.00
R7307:Hsd3b5 UTSW 3 98,527,085 (GRCm39) missense probably damaging 0.97
R7339:Hsd3b5 UTSW 3 98,529,390 (GRCm39) missense probably damaging 1.00
R7615:Hsd3b5 UTSW 3 98,537,420 (GRCm39) missense probably damaging 0.99
R7673:Hsd3b5 UTSW 3 98,526,757 (GRCm39) missense probably damaging 1.00
R7883:Hsd3b5 UTSW 3 98,529,456 (GRCm39) missense probably benign 0.00
R8398:Hsd3b5 UTSW 3 98,526,720 (GRCm39) missense possibly damaging 0.85
R9218:Hsd3b5 UTSW 3 98,526,354 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCTGTTGAGCAGATCATCTGACC -3'
(R):5'- ACCATGACTGCCCTTGAAGACCTAC -3'

Sequencing Primer
(F):5'- GTTGAGCAGATCATCTGACCTACTC -3'
(R):5'- TGCCCTTGAAGACCTACATAAATG -3'
Posted On 2014-04-24