Incidental Mutation 'IGL00693:Hsd3b6'
ID 11360
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 # IGL00693
Quality Score
Status
Chromosome 3
Chromosomal Location 98712820-98721759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 98713594 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O35469
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
Aldh1a7 G A 19: 20,677,410 (GRCm39) P404S probably damaging Het
Bltp1 A G 3: 37,106,696 (GRCm39) probably benign Het
Ccng1 A G 11: 40,644,885 (GRCm39) V4A probably benign Het
Col4a3 T C 1: 82,675,475 (GRCm39) Y1176H unknown Het
Dyrk3 T C 1: 131,064,074 (GRCm39) I3V possibly damaging Het
Gpsm3 A G 17: 34,810,247 (GRCm39) E149G probably damaging Het
Ipo11 A T 13: 107,033,768 (GRCm39) F238Y probably damaging Het
Kcnh7 C T 2: 62,564,598 (GRCm39) R887K probably benign Het
Lrrc8a T C 2: 30,145,327 (GRCm39) V47A probably benign Het
Lsm14b A G 2: 179,674,419 (GRCm39) N241D probably damaging Het
Mtss1 T A 15: 58,815,973 (GRCm39) D529V probably damaging Het
Nup58 A T 14: 60,475,969 (GRCm39) S283T probably benign Het
Odad2 C T 18: 7,211,504 (GRCm39) G790D probably damaging Het
Pno1 A G 11: 17,161,317 (GRCm39) L64P probably benign Het
Pramel28 G T 4: 143,692,392 (GRCm39) P203Q possibly damaging Het
Proc A G 18: 32,256,566 (GRCm39) V367A probably benign Het
Sez6l A T 5: 112,569,879 (GRCm39) I964N probably damaging Het
Speer2 A T 16: 69,657,406 (GRCm39) M79K probably benign Het
Tef T C 15: 81,699,384 (GRCm39) S131P probably benign Het
Ubr2 T C 17: 47,283,907 (GRCm39) T581A probably benign Het
Unc13c A T 9: 73,665,884 (GRCm39) D1045E probably benign Het
Vsig8 T C 1: 172,389,156 (GRCm39) V136A probably damaging Het
Wee1 A T 7: 109,734,060 (GRCm39) probably null Het
Other mutations in Hsd3b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03381:Hsd3b6 APN 3 98,715,128 (GRCm39) missense possibly damaging 0.83
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 2012-12-06