Incidental Mutation 'IGL02030:Hsd3b6'
ID184333
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: 0.087) question?
Stock #IGL02030
Quality Score
Status
Chromosome3
Chromosomal Location98805504-98814443 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98806173 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 270 (Y270C)
Ref Sequence ENSEMBL: ENSMUSP00000129911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029463] [ENSMUST00000170847]
Predicted Effect probably benign
Transcript: ENSMUST00000029463
AA Change: Y270C

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: Y270C

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 benign
Transcript: ENSMUST00000170847
AA Change: Y270C

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: Y270C

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,857 D532G probably benign Het
Adam29 C T 8: 55,872,122 M432I probably benign Het
Cbs A G 17: 31,625,489 probably null Het
Ccer1 A G 10: 97,693,610 Y45C unknown Het
Clu G A 14: 65,975,791 G209S probably benign Het
Ddx17 T C 15: 79,530,376 D530G probably benign Het
Ddx4 T C 13: 112,624,777 probably benign Het
Fry C T 5: 150,471,618 probably benign Het
Fut10 C T 8: 31,235,978 Q254* probably null Het
Gucy2e A G 11: 69,223,816 F1002S probably damaging Het
Jup A G 11: 100,376,991 I502T probably damaging Het
Lrrc71 T A 3: 87,745,224 probably null Het
Mei1 T C 15: 82,115,743 V1127A probably benign Het
Ncstn A T 1: 172,072,457 probably benign Het
Nin T C 12: 70,045,268 R756G probably damaging Het
Notch2 C A 3: 98,099,421 probably null Het
Oacyl T C 18: 65,737,910 V394A probably damaging Het
Olfr1444 T C 19: 12,862,435 F220S probably benign Het
Olfr348 A G 2: 36,787,398 Y291C probably damaging Het
Olfr524 A G 7: 140,202,632 I46T probably damaging Het
Parn A G 16: 13,664,650 probably null Het
Rspo3 T G 10: 29,500,048 E173A probably damaging Het
Rusc2 T A 4: 43,416,095 V467E possibly damaging Het
Sema7a G A 9: 57,955,140 E209K possibly damaging Het
Uchl4 T C 9: 64,235,629 S131P probably benign Het
Usp54 T C 14: 20,565,946 I769V probably benign Het
Xirp2 T C 2: 67,508,981 M522T probably benign Het
Other mutations in Hsd3b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Hsd3b6 APN 3 98806278 missense probably damaging 1.00
IGL00940:Hsd3b6 APN 3 98806624 missense probably damaging 1.00
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
R7814:Hsd3b6 UTSW 3 98810943 missense probably damaging 1.00
R8092:Hsd3b6 UTSW 3 98806140 missense possibly damaging 0.88
RF001:Hsd3b6 UTSW 3 98806440 missense probably benign 0.00
X0023:Hsd3b6 UTSW 3 98806533 missense probably benign
Z1088:Hsd3b6 UTSW 3 98806332 missense probably benign 0.21
Posted On2014-05-07