Incidental Mutation 'IGL03381:Hsd3b6'
ID 420679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd3b6
Ensembl Gene ENSMUSG00000027869
Gene Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6
Synonyms 3beta-HSD VI
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL03381
Quality Score
Status
Chromosome 3
Chromosomal Location 98712820-98721759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98715128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000129911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029463] [ENSMUST00000170847]
AlphaFold O35469
Predicted Effect possibly damaging
Transcript: ENSMUST00000029463
AA Change: V88A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: V88A

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 possibly damaging
Transcript: ENSMUST00000170847
AA Change: V88A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: V88A

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik T C 17: 47,200,812 (GRCm39) probably benign Het
Abca16 T C 7: 120,127,041 (GRCm39) F1243S probably benign Het
Adgrv1 A G 13: 81,666,086 (GRCm39) V1990A probably damaging Het
Arhgdib G A 6: 136,909,314 (GRCm39) T69I probably benign Het
Atf2 G A 2: 73,659,012 (GRCm39) A214V probably benign Het
Ccr2 G A 9: 123,906,409 (GRCm39) V230I probably benign Het
Cnksr1 T C 4: 133,959,482 (GRCm39) E384G probably damaging Het
Epha5 T A 5: 84,479,191 (GRCm39) D271V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gpr15 A G 16: 58,538,339 (GRCm39) F250S probably damaging Het
Gzmf A T 14: 56,444,450 (GRCm39) V41E probably benign Het
H2-T10 C T 17: 36,430,246 (GRCm39) D232N probably benign Het
H2-T10 T A 17: 36,430,249 (GRCm39) K231* probably null Het
Kit C T 5: 75,767,788 (GRCm39) T57M probably benign Het
Klhl22 A G 16: 17,610,591 (GRCm39) D614G possibly damaging Het
Matr3 T A 18: 35,712,078 (GRCm39) probably benign Het
Mff A G 1: 82,719,661 (GRCm39) Y213C probably damaging Het
Mrnip A G 11: 50,090,417 (GRCm39) T194A probably benign Het
Msh6 T C 17: 88,292,537 (GRCm39) F431L probably damaging Het
Mttp G A 3: 137,810,704 (GRCm39) R637C probably damaging Het
Nlrc3 A G 16: 3,782,179 (GRCm39) V410A probably benign Het
Or4c120 A G 2: 89,001,523 (GRCm39) I11T possibly damaging Het
Or52a5b T C 7: 103,417,044 (GRCm39) I187V probably benign Het
Or5b108 T A 19: 13,168,769 (GRCm39) V246D probably damaging Het
Pramel21 T C 4: 143,343,625 (GRCm39) probably benign Het
Psip1 T C 4: 83,404,022 (GRCm39) T2A probably benign Het
Rbm33 T C 5: 28,599,390 (GRCm39) F921L unknown Het
Rhbdl2 T C 4: 123,716,610 (GRCm39) V189A possibly damaging Het
Rpap2 C T 5: 107,768,067 (GRCm39) P302S probably benign Het
Sec23ip T A 7: 128,352,029 (GRCm39) V32D probably damaging Het
Sh3yl1 T C 12: 30,976,836 (GRCm39) I47T possibly damaging Het
Spmip4 T C 6: 50,566,116 (GRCm39) S120G probably damaging Het
Tenm2 A C 11: 35,959,238 (GRCm39) S1104A probably benign Het
Ufd1 A G 16: 18,644,507 (GRCm39) D190G probably damaging Het
Ugt1a7c T C 1: 88,023,512 (GRCm39) F224L probably benign Het
Utp20 G T 10: 88,657,867 (GRCm39) F64L probably damaging Het
Vmn1r198 A G 13: 22,539,006 (GRCm39) Y164C probably benign Het
Wdcp T A 12: 4,901,926 (GRCm39) V594D probably damaging Het
Xirp2 A C 2: 67,344,570 (GRCm39) E2270D probably benign Het
Other mutations in Hsd3b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Hsd3b6 APN 3 98,713,594 (GRCm39) missense probably damaging 1.00
IGL00940:Hsd3b6 APN 3 98,713,940 (GRCm39) missense probably damaging 1.00
IGL02030:Hsd3b6 APN 3 98,713,489 (GRCm39) missense probably benign 0.07
IGL02385:Hsd3b6 APN 3 98,713,888 (GRCm39) missense possibly damaging 0.67
IGL02819:Hsd3b6 APN 3 98,718,262 (GRCm39) missense probably benign 0.00
R1444:Hsd3b6 UTSW 3 98,715,237 (GRCm39) missense probably benign 0.01
R1472:Hsd3b6 UTSW 3 98,715,255 (GRCm39) splice site probably null
R1996:Hsd3b6 UTSW 3 98,713,597 (GRCm39) missense probably damaging 0.98
R2101:Hsd3b6 UTSW 3 98,713,553 (GRCm39) missense possibly damaging 0.95
R2108:Hsd3b6 UTSW 3 98,713,503 (GRCm39) nonsense probably null
R4579:Hsd3b6 UTSW 3 98,713,541 (GRCm39) missense probably damaging 0.98
R4628:Hsd3b6 UTSW 3 98,713,895 (GRCm39) missense possibly damaging 0.93
R4808:Hsd3b6 UTSW 3 98,713,601 (GRCm39) missense probably damaging 1.00
R4850:Hsd3b6 UTSW 3 98,715,221 (GRCm39) missense probably benign 0.12
R5093:Hsd3b6 UTSW 3 98,715,120 (GRCm39) missense probably benign 0.01
R6221:Hsd3b6 UTSW 3 98,713,849 (GRCm39) missense probably benign
R6333:Hsd3b6 UTSW 3 98,713,540 (GRCm39) missense probably damaging 1.00
R6928:Hsd3b6 UTSW 3 98,718,269 (GRCm39) missense probably benign 0.03
R7404:Hsd3b6 UTSW 3 98,713,534 (GRCm39) missense probably benign 0.02
R7814:Hsd3b6 UTSW 3 98,718,259 (GRCm39) missense probably damaging 1.00
R8092:Hsd3b6 UTSW 3 98,713,456 (GRCm39) missense possibly damaging 0.88
R9055:Hsd3b6 UTSW 3 98,713,984 (GRCm39) missense probably damaging 1.00
R9249:Hsd3b6 UTSW 3 98,713,679 (GRCm39) missense probably benign 0.01
R9714:Hsd3b6 UTSW 3 98,713,645 (GRCm39) missense probably benign 0.00
RF001:Hsd3b6 UTSW 3 98,713,756 (GRCm39) missense probably benign 0.00
X0023:Hsd3b6 UTSW 3 98,713,849 (GRCm39) missense probably benign
Z1088:Hsd3b6 UTSW 3 98,713,648 (GRCm39) missense probably benign 0.21
Posted On 2016-08-02