Incidental Mutation 'IGL02189:Hsd3b3'
ID283763
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 #IGL02189
Quality Score
Status
Chromosome3
Chromosomal Location98741523-98763127 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 98742138 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 290 (I290L)
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: I290L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088246
Gene: ENSMUSG00000062410
AA Change: I290L

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
AA Change: I235L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091592
Gene: ENSMUSG00000062410
AA Change: I235L

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
AA Change: I235L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102632
Gene: ENSMUSG00000062410
AA Change: I235L

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: I290L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102633
Gene: ENSMUSG00000062410
AA Change: I290L

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
SMART Domains Protein: ENSMUSP00000121360
Gene: ENSMUSG00000062410

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,000,230 K57E probably damaging Het
9930111J21Rik1 A T 11: 48,947,421 Y780N probably benign Het
Aadacl2 T C 3: 60,025,188 S375P probably damaging Het
Abi1 A C 2: 23,040,064 M1R probably null Het
Acss1 T C 2: 150,629,868 D322G probably damaging Het
Adam22 G A 5: 8,330,029 R90W possibly damaging Het
Agtpbp1 T C 13: 59,500,461 H515R probably benign Het
BC003331 G T 1: 150,372,033 N356K possibly damaging Het
C3 T C 17: 57,220,113 K779E probably benign Het
Cfhr2 A G 1: 139,821,759 Y162H probably damaging Het
Chchd5 T C 2: 129,133,268 probably benign Het
Csmd1 T A 8: 16,271,606 I493F probably damaging Het
Daam1 A T 12: 71,946,285 R349S unknown Het
Dnah11 T C 12: 118,082,579 E1708G probably benign Het
Epg5 A G 18: 78,012,870 D1753G probably damaging Het
Flt4 T G 11: 49,626,003 C206G probably damaging Het
Fscn1 G T 5: 142,960,620 A58S possibly damaging Het
Gapvd1 A T 2: 34,728,544 N272K probably damaging Het
Gem T A 4: 11,706,121 S70T possibly damaging Het
H2-K1 A G 17: 33,999,492 L150P probably damaging Het
Iws1 A G 18: 32,093,125 R689G probably damaging Het
Klk1b22 A G 7: 44,116,206 probably null Het
Klra4 T A 6: 130,044,142 D230V possibly damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lilra5 A T 7: 4,237,969 M21L probably benign Het
Lrrc20 T A 10: 61,527,108 V44D possibly damaging Het
Mtx1 T G 3: 89,209,317 M426L probably damaging Het
Mylk2 C T 2: 152,915,154 P283L probably damaging Het
Mynn T A 3: 30,613,544 probably benign Het
Olfr1231 A C 2: 89,303,297 C98W probably damaging Het
Parl T A 16: 20,297,703 I116F probably damaging Het
Pdlim3 T C 8: 45,885,593 V5A probably damaging Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Ptprf T A 4: 118,213,642 probably benign Het
Ptprn A G 1: 75,258,495 S170P possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rps27a C A 11: 29,546,772 Q40H probably damaging Het
Ryr3 A T 2: 112,754,838 probably benign Het
Scube3 G T 17: 28,162,996 C332F probably benign Het
Sh3glb2 T C 2: 30,345,339 probably null Het
Sh3tc2 A G 18: 61,990,622 E818G probably benign Het
Slc16a3 G A 11: 120,956,771 V262I probably benign Het
Sptbn1 T A 11: 30,117,871 D1781V probably damaging Het
Ssr1 C T 13: 37,987,516 probably null Het
Tep1 A G 14: 50,826,826 L2442S probably benign Het
Tonsl A T 15: 76,623,178 V94D possibly damaging Het
Ttc22 A T 4: 106,639,157 H468L probably benign Het
Ttc27 C T 17: 74,729,899 T189M probably damaging Het
Ttn T C 2: 76,890,156 probably benign Het
Ttn T G 2: 76,759,895 I21157L probably damaging Het
Vav3 T A 3: 109,525,960 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Hsd3b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Hsd3b3 APN 3 98741900 missense probably benign 0.09
IGL01776:Hsd3b3 APN 3 98743847 missense probably benign 0.05
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 On2015-04-16