Incidental Mutation 'IGL00857:Hsd3b2'
ID11354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd3b2
Ensembl Gene ENSMUSG00000063730
Gene Namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL00857
Quality Score
Status
Chromosome3
Chromosomal Location98709255-98724543 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 98711543 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 362 (E362V)
Ref Sequence ENSEMBL: ENSMUSP00000136533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107021] [ENSMUST00000107022] [ENSMUST00000177651]
Predicted Effect possibly damaging
Transcript: ENSMUST00000107021
AA Change: E362V

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102635
Gene: ENSMUSG00000063730
AA Change: E362V

DomainStartEndE-ValueType
Pfam:KR 5 130 3.9e-7 PFAM
Pfam:adh_short 5 133 5.6e-8 PFAM
Pfam:Polysacc_synt_2 6 135 2.1e-13 PFAM
Pfam:NmrA 6 139 7.7e-8 PFAM
Pfam:NAD_binding_10 6 207 1.4e-9 PFAM
Pfam:Epimerase 6 254 2.5e-26 PFAM
Pfam:3Beta_HSD 7 288 1.2e-112 PFAM
Pfam:NAD_binding_4 8 221 1.7e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107022
AA Change: E362V

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102636
Gene: ENSMUSG00000063730
AA Change: E362V

DomainStartEndE-ValueType
Pfam:KR 5 130 3.9e-7 PFAM
Pfam:adh_short 5 133 5.6e-8 PFAM
Pfam:Polysacc_synt_2 6 135 2.1e-13 PFAM
Pfam:NmrA 6 139 7.7e-8 PFAM
Pfam:NAD_binding_10 6 207 1.4e-9 PFAM
Pfam:Epimerase 6 254 2.5e-26 PFAM
Pfam:3Beta_HSD 7 288 1.2e-112 PFAM
Pfam:NAD_binding_4 8 221 1.7e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177651
AA Change: E362V

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136533
Gene: ENSMUSG00000063730
AA Change: E362V

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 6 136 1.2e-13 PFAM
Pfam:NmrA 6 140 1.7e-7 PFAM
Pfam:Epimerase 6 249 2.1e-25 PFAM
Pfam:GDP_Man_Dehyd 7 187 2.7e-13 PFAM
Pfam:3Beta_HSD 7 288 8.2e-114 PFAM
Pfam:NAD_binding_4 8 223 1.5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196741
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik A G 2: 148,782,250 D48G possibly damaging Het
Acr A G 15: 89,570,002 T181A probably benign Het
Anks3 T A 16: 4,953,929 H77L possibly damaging Het
Cacna1d A T 14: 30,350,681 N112K possibly damaging Het
Cd164 A G 10: 41,528,695 T150A probably benign Het
Cfap57 C T 4: 118,612,923 probably null Het
Cntnap2 C A 6: 47,049,424 N61K probably benign Het
Cyp4f39 A G 17: 32,489,657 I393V probably benign Het
Dcaf11 A T 14: 55,561,285 probably benign Het
Defb7 G A 8: 19,497,578 R33Q possibly damaging Het
Dmxl2 T C 9: 54,376,320 Y2743C probably benign Het
Enpp2 A G 15: 54,875,650 probably null Het
Fam135b T A 15: 71,463,616 E576D probably benign Het
Fam46a C A 9: 85,324,753 V331L possibly damaging Het
Gfpt1 T A 6: 87,056,163 N123K probably damaging Het
Hnmt T C 2: 24,003,783 D233G probably benign Het
Hsdl2 T A 4: 59,617,735 N487K probably benign Het
Hspa14 T C 2: 3,502,759 Y83C probably damaging Het
Itm2b T C 14: 73,364,616 N214S probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Myocd A T 11: 65,178,836 V726D possibly damaging Het
Ncapg T A 5: 45,676,585 probably null Het
Nrd1 A T 4: 109,054,002 I774F probably damaging Het
Pot1a T C 6: 25,744,628 I626V probably benign Het
Prkab2 C T 3: 97,662,343 A75V possibly damaging Het
Sdr9c7 A G 10: 127,898,859 Q72R probably benign Het
Slc16a7 A C 10: 125,230,934 Y279D probably benign Het
Slc8a1 T A 17: 81,647,879 T577S probably benign Het
Slitrk3 G A 3: 73,049,841 L533F probably damaging Het
Tmeff1 T C 4: 48,610,435 V102A probably damaging Het
Ttn G A 2: 76,752,755 T22598I probably damaging Het
Ube4a C A 9: 44,932,386 G977W probably damaging Het
Other mutations in Hsd3b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Hsd3b2 APN 3 98711679 missense probably damaging 0.97
IGL01733:Hsd3b2 APN 3 98716485 missense probably damaging 1.00
IGL02202:Hsd3b2 APN 3 98711867 missense possibly damaging 0.85
IGL02851:Hsd3b2 APN 3 98716424 missense possibly damaging 0.84
R1737:Hsd3b2 UTSW 3 98711546 missense probably damaging 1.00
R1800:Hsd3b2 UTSW 3 98712237 missense probably damaging 1.00
R1917:Hsd3b2 UTSW 3 98712026 missense probably benign
R4797:Hsd3b2 UTSW 3 98711663 missense probably damaging 1.00
R5354:Hsd3b2 UTSW 3 98712315 missense probably benign 0.39
R5412:Hsd3b2 UTSW 3 98711892 missense possibly damaging 0.88
R5940:Hsd3b2 UTSW 3 98711971 missense probably benign 0.02
R5954:Hsd3b2 UTSW 3 98711559 missense probably benign 0.06
R6012:Hsd3b2 UTSW 3 98712017 missense probably benign
R6083:Hsd3b2 UTSW 3 98712056 missense possibly damaging 0.94
R6675:Hsd3b2 UTSW 3 98713472 missense probably benign 0.02
R7436:Hsd3b2 UTSW 3 98711796 missense probably benign 0.00
X0054:Hsd3b2 UTSW 3 98713500 missense probably damaging 1.00
Z1176:Hsd3b2 UTSW 3 98712222 missense probably benign 0.00
Posted On2012-12-06