Incidental Mutation 'IGL00693:Hsd3b6'
ID11360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd3b6
Ensembl Gene ENSMUSG00000027869
Gene Namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6
Synonyms3beta-HSD VI
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL00693
Quality Score
Status
Chromosome3
Chromosomal Location98805504-98814443 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 98806278 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 235 (L235R)
Ref Sequence ENSEMBL: ENSMUSP00000129911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029463] [ENSMUST00000170847]
Predicted Effect probably damaging
Transcript: ENSMUST00000029463
AA Change: L235R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: L235R

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 6 135 1.2e-13 PFAM
Pfam:NmrA 6 136 6.3e-8 PFAM
Pfam:Epimerase 6 250 1.4e-26 PFAM
Pfam:GDP_Man_Dehyd 7 212 1.3e-13 PFAM
Pfam:3Beta_HSD 7 288 5.9e-114 PFAM
Pfam:NAD_binding_4 8 225 1.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170847
AA Change: L235R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: L235R

DomainStartEndE-ValueType
Pfam:KR 5 131 5.6e-7 PFAM
Pfam:adh_short 5 133 2.7e-8 PFAM
Pfam:Polysacc_synt_2 6 135 2.2e-13 PFAM
Pfam:NmrA 6 136 2.3e-8 PFAM
Pfam:NAD_binding_10 6 221 2.3e-10 PFAM
Pfam:Epimerase 6 256 4.5e-27 PFAM
Pfam:3Beta_HSD 7 288 1.9e-113 PFAM
Pfam:NAD_binding_4 8 226 2.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196706
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,052,547 probably benign Het
Aldh1a7 G A 19: 20,700,046 P404S probably damaging Het
Armc4 C T 18: 7,211,504 G790D probably damaging Het
Ccng1 A G 11: 40,754,058 V4A probably benign Het
Col4a3 T C 1: 82,697,754 Y1176H unknown Het
Dyrk3 T C 1: 131,136,337 I3V possibly damaging Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Gpsm3 A G 17: 34,591,273 E149G probably damaging Het
Ipo11 A T 13: 106,897,260 F238Y probably damaging Het
Kcnh7 C T 2: 62,734,254 R887K probably benign Het
Lrrc8a T C 2: 30,255,315 V47A probably benign Het
Lsm14b A G 2: 180,032,626 N241D probably damaging Het
Mtss1 T A 15: 58,944,124 D529V probably damaging Het
Nupl1 A T 14: 60,238,520 S283T probably benign Het
Pno1 A G 11: 17,211,317 L64P probably benign Het
Proc A G 18: 32,123,513 V367A probably benign Het
Sez6l A T 5: 112,422,013 I964N probably damaging Het
Speer2 A T 16: 69,860,518 M79K probably benign Het
Tef T C 15: 81,815,183 S131P probably benign Het
Ubr2 T C 17: 46,972,981 T581A probably benign Het
Unc13c A T 9: 73,758,602 D1045E probably benign Het
Vsig8 T C 1: 172,561,589 V136A probably damaging Het
Wee1 A T 7: 110,134,853 probably null Het
Other mutations in Hsd3b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Hsd3b6 APN 3 98806624 missense probably damaging 1.00
IGL02030:Hsd3b6 APN 3 98806173 missense probably benign 0.07
IGL02385:Hsd3b6 APN 3 98806572 missense possibly damaging 0.67
IGL02819:Hsd3b6 APN 3 98810946 missense probably benign 0.00
IGL03381:Hsd3b6 APN 3 98807812 missense possibly damaging 0.83
R1444:Hsd3b6 UTSW 3 98807921 missense probably benign 0.01
R1472:Hsd3b6 UTSW 3 98807939 splice site probably null
R1996:Hsd3b6 UTSW 3 98806281 missense probably damaging 0.98
R2101:Hsd3b6 UTSW 3 98806237 missense possibly damaging 0.95
R2108:Hsd3b6 UTSW 3 98806187 nonsense probably null
R4579:Hsd3b6 UTSW 3 98806225 missense probably damaging 0.98
R4628:Hsd3b6 UTSW 3 98806579 missense possibly damaging 0.93
R4808:Hsd3b6 UTSW 3 98806285 missense probably damaging 1.00
R4850:Hsd3b6 UTSW 3 98807905 missense probably benign 0.12
R5093:Hsd3b6 UTSW 3 98807804 missense probably benign 0.01
R6221:Hsd3b6 UTSW 3 98806533 missense probably benign
R6333:Hsd3b6 UTSW 3 98806224 missense probably damaging 1.00
R6928:Hsd3b6 UTSW 3 98810953 missense probably benign 0.03
R7404:Hsd3b6 UTSW 3 98806218 missense probably benign 0.02
X0023:Hsd3b6 UTSW 3 98806533 missense probably benign
Z1088:Hsd3b6 UTSW 3 98806332 missense probably benign 0.21
Posted On2012-12-06