Incidental Mutation 'IGL00940:Hsd3b6'
ID 27111
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: 0.089) question?
Stock # IGL00940
Quality Score
Status
Chromosome 3
Chromosomal Location 98712820-98721759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98713940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 120 (F120I)
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: F120I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: F120I

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: F120I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: F120I

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1 A G 17: 28,276,328 (GRCm39) N1024D probably damaging Het
Cts7 A G 13: 61,504,723 (GRCm39) probably null Het
Dock3 T A 9: 106,788,576 (GRCm39) probably benign Het
Fbxo6 A G 4: 148,230,567 (GRCm39) F232L probably benign Het
Il4ra G A 7: 125,168,347 (GRCm39) probably null Het
Irs4 A T X: 140,505,140 (GRCm39) F1019I unknown Het
Klc1 A G 12: 111,753,932 (GRCm39) T464A probably damaging Het
Mical3 T C 6: 120,999,371 (GRCm39) T660A possibly damaging Het
Ndufs7 T A 10: 80,090,955 (GRCm39) V158E probably damaging Het
Nhs T A X: 160,620,226 (GRCm39) N1510I probably damaging Het
Or51e2 A G 7: 102,391,469 (GRCm39) V247A probably damaging Het
Or8k38 T G 2: 86,488,070 (GRCm39) H244P probably damaging Het
Pole2 G A 12: 69,262,134 (GRCm39) T148I probably damaging Het
Pramel1 T A 4: 143,124,126 (GRCm39) L267H probably damaging Het
Rag1 T C 2: 101,472,733 (GRCm39) E803G probably damaging Het
Rassf1 G T 9: 107,435,510 (GRCm39) probably benign Het
Rnf220 T C 4: 117,164,872 (GRCm39) K210R probably benign Het
Setd7 T A 3: 51,440,459 (GRCm39) D194V probably damaging Het
Snd1 T C 6: 28,745,174 (GRCm39) probably benign Het
Spmip9 C A 6: 70,890,372 (GRCm39) R140L probably benign Het
Ssb T A 2: 69,701,179 (GRCm39) probably null Het
Tlr5 T C 1: 182,801,761 (GRCm39) V355A possibly damaging Het
Ush2a A T 1: 188,090,158 (GRCm39) R414* probably null Het
Zfyve26 A G 12: 79,327,674 (GRCm39) S559P probably benign Het
Other mutations in Hsd3b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Hsd3b6 APN 3 98,713,594 (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 2013-04-17