Incidental Mutation 'IGL00827:Hsd3b5'
ID 11358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd3b5
Ensembl Gene ENSMUSG00000038092
Gene Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5
Synonyms 3(beta)HSDV
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL00827
Quality Score
Status
Chromosome 3
Chromosomal Location 98618634-98630252 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98630098 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 34 (A34V)
Ref Sequence ENSEMBL: ENSMUSP00000041442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044094]
AlphaFold Q61694
Predicted Effect probably benign
Transcript: ENSMUST00000044094
AA Change: A34V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: A34V

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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,689,476 V265A probably benign Het
Ap3d1 A T 10: 80,713,559 D803E possibly damaging Het
Camk1d G A 2: 5,311,073 probably benign Het
Dnah2 T C 11: 69,448,457 K3075E probably damaging Het
Dnmt3l T C 10: 78,053,996 L229P probably damaging Het
Dntt G A 19: 41,039,823 G186D probably benign Het
Epdr1 A G 13: 19,594,509 I139T possibly damaging Het
Fam20a A T 11: 109,677,762 probably benign Het
Hcar2 T C 5: 123,864,502 K313E probably benign Het
Hdac2 T A 10: 36,997,114 C323S probably benign Het
Lrrk2 A T 15: 91,755,790 I1513F probably damaging Het
Parp3 T A 9: 106,474,406 M208L probably benign Het
Ppp4r4 A G 12: 103,579,076 T203A probably benign Het
Rims2 G A 15: 39,472,359 G788D probably damaging Het
Slc4a4 T G 5: 89,179,686 S626A probably benign Het
Steap4 A G 5: 7,976,712 Y225C probably damaging Het
Other mutations in Hsd3b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Hsd3b5 APN 3 98630057 missense probably benign 0.05
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
R8398:Hsd3b5 UTSW 3 98619404 missense possibly damaging 0.85
R9218:Hsd3b5 UTSW 3 98619038 missense probably benign 0.03
Posted On 2012-12-06