Incidental Mutation 'IGL00730:Hsd3b5'
ID11356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd3b5
Ensembl Gene ENSMUSG00000038092
Gene Namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5
Synonyms3(beta)HSDV
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL00730
Quality Score
Status
Chromosome3
Chromosomal Location98618634-98630252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98630057 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 48 (S48T)
Ref Sequence ENSEMBL: ENSMUSP00000041442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044094]
Predicted Effect probably benign
Transcript: ENSMUST00000044094
AA Change: S48T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: S48T

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A C 10: 116,113,026 D198E probably benign Het
Adnp2 A T 18: 80,128,032 I1054N probably benign Het
Carf C T 1: 60,147,418 Q511* probably null Het
Dnaaf5 G T 5: 139,151,668 probably null Het
Gen1 T C 12: 11,261,067 N55D probably damaging Het
Gsdmc4 T A 15: 63,897,804 R190W probably damaging Het
Lactb2 T G 1: 13,647,516 probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Pdzk1 A G 3: 96,868,426 D370G probably benign Het
Qtrt1 G T 9: 21,419,549 probably null Het
Tmem63c T A 12: 87,077,206 L486Q probably benign Het
Top2b A G 14: 16,389,831 Y223C probably damaging Het
Trpm2 T C 10: 77,942,915 probably null Het
Other mutations in Hsd3b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Hsd3b5 APN 3 98630098 missense probably benign 0.00
IGL01530:Hsd3b5 APN 3 98619123 missense probably damaging 1.00
IGL01930:Hsd3b5 APN 3 98622159 missense probably benign 0.01
IGL02363:Hsd3b5 APN 3 98630105 missense probably benign 0.08
IGL02396:Hsd3b5 APN 3 98622027 missense probably benign 0.05
IGL02448:Hsd3b5 APN 3 98622131 missense probably damaging 1.00
R0045:Hsd3b5 UTSW 3 98619144 missense probably benign
R0624:Hsd3b5 UTSW 3 98619404 missense probably damaging 0.98
R0745:Hsd3b5 UTSW 3 98619539 missense probably benign 0.12
R0848:Hsd3b5 UTSW 3 98619355 missense probably damaging 1.00
R1112:Hsd3b5 UTSW 3 98630077 missense probably benign 0.00
R1454:Hsd3b5 UTSW 3 98619530 missense probably benign 0.01
R1631:Hsd3b5 UTSW 3 98622077 missense probably damaging 1.00
R1657:Hsd3b5 UTSW 3 98619720 missense possibly damaging 0.89
R1839:Hsd3b5 UTSW 3 98619728 missense probably benign 0.30
R2930:Hsd3b5 UTSW 3 98619212 missense probably benign 0.03
R2982:Hsd3b5 UTSW 3 98619800 missense possibly damaging 0.88
R3158:Hsd3b5 UTSW 3 98622059 missense probably benign 0.00
R4573:Hsd3b5 UTSW 3 98619648 missense probably benign 0.04
R4941:Hsd3b5 UTSW 3 98619063 missense probably damaging 1.00
R5104:Hsd3b5 UTSW 3 98619276 missense probably damaging 1.00
R5416:Hsd3b5 UTSW 3 98619150 missense probably damaging 1.00
R6311:Hsd3b5 UTSW 3 98630090 missense possibly damaging 0.79
R6861:Hsd3b5 UTSW 3 98622012 missense probably damaging 1.00
R7307:Hsd3b5 UTSW 3 98619769 missense probably damaging 0.97
R7339:Hsd3b5 UTSW 3 98622074 missense probably damaging 1.00
R7615:Hsd3b5 UTSW 3 98630104 missense probably damaging 0.99
R7673:Hsd3b5 UTSW 3 98619441 missense probably damaging 1.00
R7883:Hsd3b5 UTSW 3 98622140 missense probably benign 0.00
Posted On2012-12-06