Incidental Mutation 'IGL03381:Hsd3b6'
ID420679
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: 0.162) question?
Stock #IGL03381
Quality Score
Status
Chromosome3
Chromosomal Location98805504-98814443 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98807812 bp
ZygosityHeterozygous
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]
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
4921507P07Rik T C 6: 50,589,136 S120G probably damaging Het
A330017A19Rik T C 17: 46,889,886 probably benign Het
Abca16 T C 7: 120,527,818 F1243S probably benign Het
Adgrv1 A G 13: 81,517,967 V1990A probably damaging Het
Arhgdib G A 6: 136,932,316 T69I probably benign Het
Atf2 G A 2: 73,828,668 A214V probably benign Het
Ccr2 G A 9: 124,106,372 V230I probably benign Het
Cnksr1 T C 4: 134,232,171 E384G probably damaging Het
Epha5 T A 5: 84,331,332 D271V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm13083 T C 4: 143,617,055 probably benign Het
Gpr15 A G 16: 58,717,976 F250S probably damaging Het
Gzmf A T 14: 56,206,993 V41E probably benign Het
H2-T10 C T 17: 36,119,354 D232N probably benign Het
H2-T10 T A 17: 36,119,357 K231* probably null Het
Kit C T 5: 75,607,128 T57M probably benign Het
Klhl22 A G 16: 17,792,727 D614G possibly damaging Het
Matr3 T A 18: 35,579,025 probably benign Het
Mff A G 1: 82,741,940 Y213C probably damaging Het
Mrnip A G 11: 50,199,590 T194A probably benign Het
Msh6 T C 17: 87,985,109 F431L probably damaging Het
Mttp G A 3: 138,104,943 R637C probably damaging Het
Nlrc3 A G 16: 3,964,315 V410A probably benign Het
Olfr1225 A G 2: 89,171,179 I11T possibly damaging Het
Olfr1462 T A 19: 13,191,405 V246D probably damaging Het
Olfr69 T C 7: 103,767,837 I187V probably benign Het
Psip1 T C 4: 83,485,785 T2A probably benign Het
Rbm33 T C 5: 28,394,392 F921L unknown Het
Rhbdl2 T C 4: 123,822,817 V189A possibly damaging Het
Rpap2 C T 5: 107,620,201 P302S probably benign Het
Sec23ip T A 7: 128,750,305 V32D probably damaging Het
Sh3yl1 T C 12: 30,926,837 I47T possibly damaging Het
Tenm2 A C 11: 36,068,411 S1104A probably benign Het
Ufd1 A G 16: 18,825,757 D190G probably damaging Het
Ugt1a7c T C 1: 88,095,790 F224L probably benign Het
Utp20 G T 10: 88,822,005 F64L probably damaging Het
Vmn1r198 A G 13: 22,354,836 Y164C probably benign Het
Wdcp T A 12: 4,851,926 V594D probably damaging Het
Xirp2 A C 2: 67,514,226 E2270D 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
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
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
X0023:Hsd3b6 UTSW 3 98806533 missense probably benign
Z1088:Hsd3b6 UTSW 3 98806332 missense probably benign 0.21
Posted On2016-08-02