Incidental Mutation 'IGL02385:Hsd3b6'
ID291484
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: 0.081) question?
Stock #IGL02385
Quality Score
Status
Chromosome3
Chromosomal Location98805504-98814443 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98806572 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 137 (I137K)
Ref Sequence ENSEMBL: ENSMUSP00000129911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029463] [ENSMUST00000170847]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029463
AA Change: I137K

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: I137K

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: I137K

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: I137K

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,154,856 D351E probably damaging Het
4930452B06Rik A G 14: 8,510,920 V498A possibly damaging Het
Adad2 A G 8: 119,615,034 probably benign Het
Adamts8 A G 9: 30,961,730 N744D probably benign Het
Atad5 C T 11: 80,094,627 T180I probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bcl9 A T 3: 97,209,278 I700K probably benign Het
Bcr T C 10: 75,145,403 S685P probably damaging Het
Cd36 A G 5: 17,814,719 V128A probably benign Het
Chd2 T C 7: 73,435,822 Y1688C probably damaging Het
Csmd1 A G 8: 15,903,275 V3402A probably benign Het
Dsg3 T C 18: 20,527,714 V370A probably damaging Het
Dus4l A G 12: 31,640,675 probably benign Het
Fcrlb A G 1: 170,907,599 S320P probably damaging Het
Fer1l4 T C 2: 156,045,428 D616G probably benign Het
Fxr2 C T 11: 69,652,269 R631C possibly damaging Het
Gltpd2 T A 11: 70,519,996 F152I probably damaging Het
Gpt2 T A 8: 85,516,153 probably null Het
Kcna6 A G 6: 126,738,954 V324A probably benign Het
Kcnu1 C T 8: 25,932,270 L188F probably damaging Het
Kdm1b A G 13: 47,068,506 I474V possibly damaging Het
Kifap3 C T 1: 163,865,444 Q602* probably null Het
Lrp4 T A 2: 91,474,720 C231S possibly damaging Het
Lrrc63 T C 14: 75,086,200 D528G probably benign Het
Nosip C A 7: 45,076,732 R240S possibly damaging Het
Olfr1287 A G 2: 111,449,350 D70G probably damaging Het
Olfr1308 G A 2: 111,960,258 P272S probably benign Het
Olfr742 T C 14: 50,515,443 S80P probably damaging Het
Orc5 A T 5: 22,526,440 D231E probably damaging Het
Poli A T 18: 70,526,574 M62K possibly damaging Het
Ppp1r13b A C 12: 111,835,043 S402R probably damaging Het
Prl3b1 T C 13: 27,249,383 S174P possibly damaging Het
Ptpra T C 2: 130,540,473 probably benign Het
Sfpq T A 4: 127,026,136 probably null Het
Sh3bp1 T A 15: 78,905,888 probably benign Het
Slc7a2 T G 8: 40,899,011 V37G probably damaging Het
Smc1a A T X: 152,037,659 E794D possibly damaging Het
Sox6 T C 7: 115,550,039 R366G possibly damaging Het
Spaca7 A G 8: 12,586,498 N108S possibly damaging Het
Spon1 T G 7: 113,766,330 M1R probably null Het
Sult6b2 T C 6: 142,801,772 R84G probably benign Het
Syt2 A G 1: 134,745,815 N299S probably benign Het
Syvn1 T C 19: 6,048,540 V104A probably damaging Het
Tbpl1 A G 10: 22,707,669 L134P probably damaging Het
Tex11 A T X: 100,876,529 probably benign Het
Tnfrsf21 A G 17: 43,040,051 S369G probably damaging Het
Tram1l1 T C 3: 124,322,058 V289A probably benign Het
Ttyh3 A T 5: 140,633,305 F277L probably benign Het
Vmn2r17 T G 5: 109,434,381 N545K probably damaging Het
Wdr20 A T 12: 110,793,223 H181L probably benign Het
Zscan20 A G 4: 128,604,599 M2T possibly damaging 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
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 On2015-04-16