Incidental Mutation 'IGL00331:Hsd3b7'
ID 6253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd3b7
Ensembl Gene ENSMUSG00000042289
Gene Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00331
Quality Score
Status
Chromosome 7
Chromosomal Location 127399830-127402975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127402144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 263 (L263P)
Ref Sequence ENSEMBL: ENSMUSP00000101879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046863] [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000106267] [ENSMUST00000106271] [ENSMUST00000106272] [ENSMUST00000125188] [ENSMUST00000155005] [ENSMUST00000154987] [ENSMUST00000156135] [ENSMUST00000138432] [ENSMUST00000139068] [ENSMUST00000206674]
AlphaFold Q9EQC1
Predicted Effect probably damaging
Transcript: ENSMUST00000046863
AA Change: L294P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036245
Gene: ENSMUSG00000042289
AA Change: L294P

DomainStartEndE-ValueType
Pfam:KR 11 147 3e-10 PFAM
Pfam:RmlD_sub_bind 11 198 8.1e-10 PFAM
Pfam:Polysacc_synt_2 12 140 4.6e-13 PFAM
Pfam:NmrA 12 142 1.9e-9 PFAM
Pfam:Epimerase 12 215 3.2e-25 PFAM
Pfam:GDP_Man_Dehyd 13 185 8.1e-17 PFAM
Pfam:3Beta_HSD 13 290 5.4e-99 PFAM
Pfam:NAD_binding_4 14 240 1.4e-15 PFAM
transmembrane domain 312 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047075
SMART Domains Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
low complexity region 209 242 N/A INTRINSIC
low complexity region 278 295 N/A INTRINSIC
low complexity region 315 357 N/A INTRINSIC
low complexity region 427 487 N/A INTRINSIC
Blast:SET 488 976 N/A BLAST
low complexity region 977 1007 N/A INTRINSIC
low complexity region 1015 1079 N/A INTRINSIC
low complexity region 1087 1098 N/A INTRINSIC
low complexity region 1122 1152 N/A INTRINSIC
low complexity region 1157 1173 N/A INTRINSIC
Blast:SET 1193 1310 2e-24 BLAST
low complexity region 1311 1368 N/A INTRINSIC
low complexity region 1369 1396 N/A INTRINSIC
N-SET 1428 1567 6.75e-64 SMART
SET 1577 1700 3.22e-35 SMART
PostSET 1700 1716 1.16e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047157
SMART Domains Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
low complexity region 209 242 N/A INTRINSIC
low complexity region 278 295 N/A INTRINSIC
low complexity region 315 357 N/A INTRINSIC
low complexity region 427 487 N/A INTRINSIC
Blast:SET 488 976 N/A BLAST
low complexity region 977 1007 N/A INTRINSIC
low complexity region 1015 1079 N/A INTRINSIC
low complexity region 1087 1098 N/A INTRINSIC
low complexity region 1122 1152 N/A INTRINSIC
low complexity region 1157 1173 N/A INTRINSIC
Blast:SET 1193 1310 2e-24 BLAST
low complexity region 1311 1368 N/A INTRINSIC
low complexity region 1369 1396 N/A INTRINSIC
N-SET 1428 1567 6.75e-64 SMART
SET 1577 1700 3.22e-35 SMART
PostSET 1700 1716 1.16e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106267
SMART Domains Protein: ENSMUSP00000101874
Gene: ENSMUSG00000030806

DomainStartEndE-ValueType
SynN 24 145 1.99e-44 SMART
t_SNARE 186 253 4.32e-24 SMART
transmembrane domain 265 287 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106271
SMART Domains Protein: ENSMUSP00000101878
Gene: ENSMUSG00000042289

DomainStartEndE-ValueType
Pfam:adh_short 10 143 1.3e-13 PFAM
Pfam:RmlD_sub_bind 10 186 3.7e-10 PFAM
Pfam:KR 11 140 5.7e-10 PFAM
Pfam:Polysacc_synt_2 12 140 2.8e-13 PFAM
Pfam:NmrA 12 141 2.7e-9 PFAM
Pfam:Epimerase 12 220 2.9e-26 PFAM
Pfam:NAD_binding_10 13 186 2.3e-11 PFAM
Pfam:3Beta_HSD 13 216 1e-70 PFAM
Pfam:NAD_binding_4 14 183 1.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106272
AA Change: L263P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101879
Gene: ENSMUSG00000042289
AA Change: L263P

DomainStartEndE-ValueType
Pfam:adh_short 10 143 3.7e-13 PFAM
Pfam:RmlD_sub_bind 10 180 2.8e-9 PFAM
Pfam:KR 11 139 1.6e-9 PFAM
Pfam:Polysacc_synt_2 12 140 7.7e-13 PFAM
Pfam:NmrA 12 141 7.3e-9 PFAM
Pfam:Epimerase 12 215 7.1e-26 PFAM
Pfam:NAD_binding_10 13 179 1.1e-10 PFAM
Pfam:3Beta_HSD 13 188 6.1e-70 PFAM
Pfam:NAD_binding_4 14 187 1.5e-17 PFAM
Pfam:3Beta_HSD 177 261 4e-23 PFAM
transmembrane domain 281 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124631
Predicted Effect probably benign
Transcript: ENSMUST00000155005
Predicted Effect probably benign
Transcript: ENSMUST00000154987
Predicted Effect probably benign
Transcript: ENSMUST00000136823
Predicted Effect probably benign
Transcript: ENSMUST00000156135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136597
Predicted Effect probably benign
Transcript: ENSMUST00000138432
SMART Domains Protein: ENSMUSP00000114536
Gene: ENSMUSG00000042289

DomainStartEndE-ValueType
Pfam:3Beta_HSD 18 78 1.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139068
SMART Domains Protein: ENSMUSP00000121246
Gene: ENSMUSG00000042289

DomainStartEndE-ValueType
Pfam:3Beta_HSD 13 55 2.7e-13 PFAM
Pfam:3Beta_HSD 53 100 3.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206995
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, dwarfism, growth retardation, oily and scaly skin, and altered bile salt and lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C A 1: 74,320,595 (GRCm39) probably benign Het
Adamts19 T A 18: 59,140,397 (GRCm39) probably benign Het
Afg3l1 T A 8: 124,214,128 (GRCm39) F190I probably benign Het
Alms1 T A 6: 85,618,353 (GRCm39) S2800T possibly damaging Het
Alox5 A T 6: 116,392,478 (GRCm39) W348R probably damaging Het
Atp13a5 G A 16: 29,085,766 (GRCm39) Q823* probably null Het
Atp6v1b2 T C 8: 69,541,586 (GRCm39) probably null Het
Chuk T C 19: 44,076,462 (GRCm39) I416M possibly damaging Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Dmbt1 A T 7: 130,701,020 (GRCm39) Q1066L possibly damaging Het
Dnah5 A G 15: 28,421,766 (GRCm39) T3873A probably damaging Het
Endog C T 2: 30,062,912 (GRCm39) T184M probably damaging Het
Fcgbp T C 7: 27,800,966 (GRCm39) probably benign Het
Flii A G 11: 60,606,659 (GRCm39) I1061T probably benign Het
Hdac2 T A 10: 36,873,067 (GRCm39) N308K probably damaging Het
Hoxa2 T G 6: 52,140,497 (GRCm39) Y163S probably damaging Het
Klf17 T C 4: 117,618,235 (GRCm39) T41A probably benign Het
Lrrfip1 T C 1: 90,996,343 (GRCm39) M42T probably damaging Het
Mapk8ip1 C T 2: 92,215,533 (GRCm39) V614I probably benign Het
Mocs1 T G 17: 49,742,292 (GRCm39) probably null Het
Moxd1 T C 10: 24,158,453 (GRCm39) probably benign Het
Mterf1a T C 5: 3,941,610 (GRCm39) E86G probably damaging Het
Muc4 A G 16: 32,574,613 (GRCm39) D1021G probably benign Het
Nomo1 T C 7: 45,694,760 (GRCm39) S212P possibly damaging Het
Or5b116 A G 19: 13,422,988 (GRCm39) D204G probably benign Het
Or8c15 T A 9: 38,120,534 (GRCm39) Y60N probably damaging Het
Phf21a A C 2: 92,178,374 (GRCm39) T385P probably damaging Het
Piwil4 A T 9: 14,626,327 (GRCm39) probably benign Het
Pknox1 T C 17: 31,818,619 (GRCm39) probably null Het
Prr14l T C 5: 32,988,410 (GRCm39) I362V probably benign Het
Sergef C T 7: 46,284,844 (GRCm39) probably null Het
Sez6l T C 5: 112,572,511 (GRCm39) D948G probably damaging Het
Skor1 A T 9: 63,053,723 (GRCm39) L54Q probably damaging Het
Sntn C T 14: 13,679,086 (GRCm38) Q87* probably null Het
Syde2 A G 3: 145,720,096 (GRCm39) K772E possibly damaging Het
Taf2 T A 15: 54,934,845 (GRCm39) probably null Het
Tbc1d13 T A 2: 30,030,523 (GRCm39) Y113N probably damaging Het
Tmem154 T C 3: 84,591,722 (GRCm39) F91L probably benign Het
Tmem63a A G 1: 180,794,062 (GRCm39) D533G possibly damaging Het
Tmprss15 A T 16: 78,782,882 (GRCm39) N712K possibly damaging Het
Trip12 A T 1: 84,708,262 (GRCm39) D603E probably damaging Het
Trmt11 T C 10: 30,442,445 (GRCm39) D246G probably damaging Het
Vmn1r174 T A 7: 23,453,958 (GRCm39) M208K possibly damaging Het
Wdr54 T C 6: 83,132,755 (GRCm39) H33R probably benign Het
Zfp207 A G 11: 80,279,828 (GRCm39) D111G probably benign Het
Other mutations in Hsd3b7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Hsd3b7 APN 7 127,402,036 (GRCm39) missense probably damaging 1.00
IGL03037:Hsd3b7 APN 7 127,400,322 (GRCm39) missense probably damaging 1.00
irritated UTSW 7 127,400,306 (GRCm39) nonsense probably null
R0518:Hsd3b7 UTSW 7 127,402,251 (GRCm39) missense probably benign 0.01
R1801:Hsd3b7 UTSW 7 127,402,206 (GRCm39) missense possibly damaging 0.82
R2860:Hsd3b7 UTSW 7 127,401,442 (GRCm39) missense probably damaging 1.00
R2861:Hsd3b7 UTSW 7 127,401,442 (GRCm39) missense probably damaging 1.00
R4059:Hsd3b7 UTSW 7 127,400,717 (GRCm39) missense probably damaging 1.00
R5129:Hsd3b7 UTSW 7 127,400,306 (GRCm39) nonsense probably null
R5497:Hsd3b7 UTSW 7 127,401,060 (GRCm39) missense probably damaging 1.00
R6143:Hsd3b7 UTSW 7 127,400,404 (GRCm39) missense probably damaging 1.00
R6358:Hsd3b7 UTSW 7 127,400,709 (GRCm39) missense probably damaging 0.96
R6984:Hsd3b7 UTSW 7 127,400,717 (GRCm39) missense probably damaging 1.00
R7067:Hsd3b7 UTSW 7 127,399,888 (GRCm39) critical splice donor site probably null
R7910:Hsd3b7 UTSW 7 127,400,419 (GRCm39) critical splice donor site probably null
R8172:Hsd3b7 UTSW 7 127,401,546 (GRCm39) missense probably damaging 0.99
Posted On 2012-04-20