Incidental Mutation 'IGL02851:Hsd3b2'
ID361866
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: 0.059) question?
Stock #IGL02851
Quality Score
Status
Chromosome3
Chromosomal Location98709255-98724543 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 98716424 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 46 (E46A)
Ref Sequence ENSEMBL: ENSMUSP00000136533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107021] [ENSMUST00000107022] [ENSMUST00000177651]
Predicted Effect possibly damaging
Transcript: ENSMUST00000107021
AA Change: E46A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102635
Gene: ENSMUSG00000063730
AA Change: E46A

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: E46A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102636
Gene: ENSMUSG00000063730
AA Change: E46A

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: E46A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136533
Gene: ENSMUSG00000063730
AA Change: E46A

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 T C 12: 112,657,084 E314G probably damaging Het
Amtn C A 5: 88,381,622 Q106K probably benign Het
Birc6 T C 17: 74,609,189 F1700S probably damaging Het
Brdt T C 5: 107,377,995 S905P possibly damaging Het
Ccdc68 C T 18: 69,947,165 Q194* probably null Het
Cdc27 A G 11: 104,526,981 probably benign Het
Cdh13 A G 8: 118,675,158 T100A probably benign Het
Cdsn A G 17: 35,555,894 H440R possibly damaging Het
Cenpf C A 1: 189,658,030 D1202Y probably damaging Het
Chat C A 14: 32,458,613 V21L probably benign Het
Clca4c-ps T A 3: 144,879,732 noncoding transcript Het
Cst9 A G 2: 148,835,283 I25V probably benign Het
Dennd1b C A 1: 139,168,967 probably benign Het
Dnah9 A G 11: 66,037,744 probably benign Het
Dpp3 T G 19: 4,923,131 Q145P probably benign Het
Elovl5 C T 9: 77,981,502 T217M probably damaging Het
Etl4 T C 2: 20,808,029 V906A possibly damaging Het
Gm10647 C T 9: 66,798,261 probably benign Het
Gm6614 C T 6: 142,003,471 G60R probably damaging Het
Grm5 A G 7: 88,074,710 N736S probably damaging Het
Hectd1 A G 12: 51,767,640 S1638P possibly damaging Het
Igkv15-103 A G 6: 68,437,690 T38A probably benign Het
Itpr2 C A 6: 146,385,979 V450L probably damaging Het
Kbtbd12 T C 6: 88,618,329 H173R probably benign Het
Man1a G A 10: 53,919,244 R638W probably damaging Het
Mterf2 A T 10: 85,120,014 S249T probably damaging Het
Muc6 T C 7: 141,648,361 D700G probably damaging Het
Myh13 A G 11: 67,348,916 H764R possibly damaging Het
Myh7b A G 2: 155,628,827 D1065G probably damaging Het
Naip1 C A 13: 100,433,262 W288L probably damaging Het
Naip6 C A 13: 100,300,660 A452S probably benign Het
Nop2 A C 6: 125,144,085 K610T possibly damaging Het
Nop2 G T 6: 125,144,070 G605V probably benign Het
Npvf G A 6: 50,652,690 R107W probably benign Het
Olfr63 T A 17: 33,269,354 I210K probably benign Het
Olfr90 T C 17: 37,086,156 probably null Het
Os9 G A 10: 127,099,393 probably benign Het
Parp4 T C 14: 56,648,869 S1802P unknown Het
Piezo2 G A 18: 63,020,633 S2547F probably benign Het
Plekha7 G T 7: 116,135,178 A1024E probably damaging Het
R3hdm1 T C 1: 128,174,940 probably benign Het
Robo4 T C 9: 37,413,382 S1022P probably damaging Het
Sc5d T C 9: 42,255,394 N283S probably benign Het
Scn10a C T 9: 119,671,608 V202M probably damaging Het
Spag16 T C 1: 70,264,908 I366T possibly damaging Het
Sptbn4 G A 7: 27,426,833 R222C possibly damaging Het
Tlr9 C T 9: 106,224,730 Q407* probably null Het
Trappc12 G A 12: 28,691,406 S768L probably damaging Het
Vmn2r44 A T 7: 8,383,051 L63Q probably damaging Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Other mutations in Hsd3b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Hsd3b2 APN 3 98711543 missense possibly damaging 0.47
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
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
R8192:Hsd3b2 UTSW 3 98713592 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 On2015-12-18