Incidental Mutation 'IGL01776:Hsd3b3'
ID153865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd3b3
Ensembl Gene ENSMUSG00000062410
Gene Namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL01776
Quality Score
Status
Chromosome3
Chromosomal Location98741523-98763127 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98743847 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 96 (T96A)
Ref Sequence ENSEMBL: ENSMUSP00000102633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090743] [ENSMUST00000094050] [ENSMUST00000107018] [ENSMUST00000107019] [ENSMUST00000146196]
Predicted Effect probably benign
Transcript: ENSMUST00000090743
AA Change: T96A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000088246
Gene: ENSMUSG00000062410
AA Change: T96A

DomainStartEndE-ValueType
Pfam:KR 5 132 8.2e-7 PFAM
Pfam:adh_short 5 133 3.9e-8 PFAM
Pfam:Polysacc_synt_2 6 134 3.5e-13 PFAM
Pfam:NmrA 6 136 2.5e-8 PFAM
Pfam:NAD_binding_10 6 237 5.8e-10 PFAM
Pfam:Epimerase 6 256 1.4e-27 PFAM
Pfam:3Beta_HSD 7 288 1.6e-114 PFAM
Pfam:NAD_binding_4 8 220 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094050
SMART Domains Protein: ENSMUSP00000091592
Gene: ENSMUSG00000062410

DomainStartEndE-ValueType
Pfam:3Beta_HSD 7 51 2e-12 PFAM
Pfam:NAD_binding_4 39 162 7.4e-7 PFAM
Pfam:Epimerase 43 201 2.1e-12 PFAM
Pfam:3Beta_HSD 48 233 4.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107018
SMART Domains Protein: ENSMUSP00000102632
Gene: ENSMUSG00000062410

DomainStartEndE-ValueType
Pfam:KR 5 132 8.2e-7 PFAM
Pfam:adh_short 5 133 3.9e-8 PFAM
Pfam:Polysacc_synt_2 6 134 3.5e-13 PFAM
Pfam:NmrA 6 136 2.5e-8 PFAM
Pfam:NAD_binding_10 6 237 5.8e-10 PFAM
Pfam:Epimerase 6 256 1.4e-27 PFAM
Pfam:3Beta_HSD 7 288 1.6e-114 PFAM
Pfam:NAD_binding_4 8 220 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107019
AA Change: T96A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102633
Gene: ENSMUSG00000062410
AA Change: T96A

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 6 135 1.9e-13 PFAM
Pfam:NmrA 6 137 5.6e-8 PFAM
Pfam:Epimerase 6 250 2e-26 PFAM
Pfam:GDP_Man_Dehyd 7 213 1.9e-13 PFAM
Pfam:3Beta_HSD 7 288 4.3e-116 PFAM
Pfam:NAD_binding_4 8 207 2.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146196
AA Change: T96A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000121360
Gene: ENSMUSG00000062410
AA Change: T96A

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 4 174 1.9e-7 PFAM
Pfam:adh_short 5 133 5.6e-9 PFAM
Pfam:KR 5 133 9.5e-8 PFAM
Pfam:Polysacc_synt_2 6 135 2.8e-14 PFAM
Pfam:NmrA 6 137 1.8e-9 PFAM
Pfam:Epimerase 6 187 2.2e-23 PFAM
Pfam:NAD_binding_10 6 187 1.4e-10 PFAM
Pfam:3Beta_HSD 7 187 9.3e-76 PFAM
Pfam:NAD_binding_4 8 176 6.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196741
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 G A 5: 90,283,364 Q854* probably null Het
Armc8 A G 9: 99,526,883 probably benign Het
Chrna7 A G 7: 63,099,519 V405A probably benign Het
Col8a2 C A 4: 126,309,805 probably benign Het
Dcn A G 10: 97,495,076 I91V possibly damaging Het
Dock7 T A 4: 98,940,941 R2069S possibly damaging Het
Gm7247 A G 14: 51,521,899 S112G possibly damaging Het
Hmcn1 T G 1: 150,672,038 T2721P possibly damaging Het
Ifi207 G A 1: 173,725,044 L936F probably damaging Het
Kcp G A 6: 29,497,908 P477S probably damaging Het
Mei1 T C 15: 82,095,932 probably null Het
Mgmt T A 7: 137,121,564 L121* probably null Het
Mrps35 G A 6: 147,070,716 V286I probably benign Het
Naxd T C 8: 11,505,525 probably null Het
Pam A G 1: 97,885,600 probably null Het
Plcxd1 G A 5: 110,101,380 probably benign Het
Rasgrp1 A G 2: 117,286,840 probably null Het
Spag9 C T 11: 94,116,727 probably benign Het
Spire2 T C 8: 123,359,392 S288P probably damaging Het
Stk11ip T C 1: 75,527,821 V322A probably benign Het
Syt17 A C 7: 118,409,953 L343R probably damaging Het
Tap1 G A 17: 34,193,128 V436I possibly damaging Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Other mutations in Hsd3b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Hsd3b3 APN 3 98741900 missense probably benign 0.09
IGL02189:Hsd3b3 APN 3 98742138 missense probably benign
R0689:Hsd3b3 UTSW 3 98741979 missense possibly damaging 0.76
R0893:Hsd3b3 UTSW 3 98742441 unclassified probably null
R1759:Hsd3b3 UTSW 3 98742083 missense probably damaging 0.96
R2008:Hsd3b3 UTSW 3 98742092 missense probably damaging 1.00
R3931:Hsd3b3 UTSW 3 98742176 missense probably damaging 1.00
R4614:Hsd3b3 UTSW 3 98742080 missense probably benign 0.03
R4664:Hsd3b3 UTSW 3 98742216 missense probably damaging 1.00
R4749:Hsd3b3 UTSW 3 98742615 missense probably damaging 1.00
R4766:Hsd3b3 UTSW 3 98742485 missense probably damaging 1.00
R4876:Hsd3b3 UTSW 3 98742644 missense probably damaging 1.00
R5074:Hsd3b3 UTSW 3 98742024 missense possibly damaging 0.94
R5622:Hsd3b3 UTSW 3 98742208 missense possibly damaging 0.79
R6280:Hsd3b3 UTSW 3 98753305 splice site probably null
R6348:Hsd3b3 UTSW 3 98755949 unclassified probably null
R7070:Hsd3b3 UTSW 3 98742471 missense possibly damaging 0.64
R7283:Hsd3b3 UTSW 3 98742357 nonsense probably null
R7747:Hsd3b3 UTSW 3 98743898 missense possibly damaging 0.76
R8054:Hsd3b3 UTSW 3 98742015 missense probably damaging 1.00
Z1176:Hsd3b3 UTSW 3 98743960 missense probably benign 0.01
Posted On2014-02-04