Incidental Mutation 'R5129:Hsd3b7'
ID 394905
Institutional Source Beutler Lab
Gene Symbol Hsd3b7
Ensembl Gene ENSMUSG00000042289
Gene Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Synonyms
MMRRC Submission 042717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5129 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127399830-127402975 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 127400306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 18 (C18*)
Ref Sequence ENSEMBL: ENSMUSP00000146308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046863] [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000106267] [ENSMUST00000106271] [ENSMUST00000106272] [ENSMUST00000138432] [ENSMUST00000125188] [ENSMUST00000139068] [ENSMUST00000154987] [ENSMUST00000155005] [ENSMUST00000206674]
AlphaFold Q9EQC1
Predicted Effect probably null
Transcript: ENSMUST00000046863
AA Change: C18*
SMART Domains Protein: ENSMUSP00000036245
Gene: ENSMUSG00000042289
AA Change: C18*

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 null
Transcript: ENSMUST00000106271
AA Change: C18*
SMART Domains Protein: ENSMUSP00000101878
Gene: ENSMUSG00000042289
AA Change: C18*

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 null
Transcript: ENSMUST00000106272
AA Change: C18*
SMART Domains Protein: ENSMUSP00000101879
Gene: ENSMUSG00000042289
AA Change: C18*

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 null
Transcript: ENSMUST00000138432
AA Change: C21*
SMART Domains Protein: ENSMUSP00000114536
Gene: ENSMUSG00000042289
AA Change: C21*

DomainStartEndE-ValueType
Pfam:3Beta_HSD 18 78 1.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124631
Predicted Effect probably benign
Transcript: ENSMUST00000125188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132702
Predicted Effect probably benign
Transcript: ENSMUST00000136823
Predicted Effect probably null
Transcript: ENSMUST00000139068
AA Change: C18*
SMART Domains Protein: ENSMUSP00000121246
Gene: ENSMUSG00000042289
AA Change: C18*

DomainStartEndE-ValueType
Pfam:3Beta_HSD 13 55 2.7e-13 PFAM
Pfam:3Beta_HSD 53 100 3.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144748
Predicted Effect probably benign
Transcript: ENSMUST00000154987
Predicted Effect probably null
Transcript: ENSMUST00000155005
AA Change: C18*
Predicted Effect probably null
Transcript: ENSMUST00000206674
AA Change: C18*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206995
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (51/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,260,786 (GRCm39) noncoding transcript Het
Abcf1 C T 17: 36,271,687 (GRCm39) probably benign Het
Adamts14 T A 10: 61,085,397 (GRCm39) D209V probably benign Het
Aldh3b1 A G 19: 3,965,336 (GRCm39) F392L probably benign Het
Atp1a2 A T 1: 172,103,522 (GRCm39) D999E probably benign Het
Capn7 T C 14: 31,066,468 (GRCm39) V94A probably damaging Het
Cdh13 A G 8: 119,821,954 (GRCm39) D271G probably damaging Het
Cntnap5b G A 1: 100,306,815 (GRCm39) G844D probably damaging Het
Col6a4 T C 9: 105,890,576 (GRCm39) E1906G probably damaging Het
Daw1 T C 1: 83,183,624 (GRCm39) Y225H probably damaging Het
Dvl3 T A 16: 20,336,090 (GRCm39) M49K possibly damaging Het
Eef1b2 T G 1: 63,218,739 (GRCm39) S175A probably damaging Het
Epb41l1 A T 2: 156,351,201 (GRCm39) Y425F possibly damaging Het
Fam43b A T 4: 138,122,783 (GRCm39) L179* probably null Het
Fbxw28 A G 9: 109,155,671 (GRCm39) L314P probably damaging Het
Fstl4 C A 11: 53,077,266 (GRCm39) D674E probably damaging Het
G3bp1 T C 11: 55,379,942 (GRCm39) V92A possibly damaging Het
Gm3604 A T 13: 62,517,588 (GRCm39) Y257N probably benign Het
Gm5900 A G 7: 104,599,223 (GRCm39) noncoding transcript Het
Hectd4 G A 5: 121,481,573 (GRCm39) V3041M possibly damaging Het
Hivep2 A G 10: 14,006,608 (GRCm39) K1069E probably damaging Het
Hlf T C 11: 90,281,078 (GRCm39) D38G probably benign Het
Kdm5a T C 6: 120,381,983 (GRCm39) C676R probably damaging Het
Klhdc7b A G 15: 89,272,751 (GRCm39) Y1211C probably damaging Het
Krt78 C A 15: 101,856,015 (GRCm39) V599L possibly damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Nbas T C 12: 13,440,961 (GRCm39) L1097P probably damaging Het
Nf2 A C 11: 4,766,145 (GRCm39) D87E probably benign Het
Or10d4c T A 9: 39,558,790 (GRCm39) I256N probably benign Het
Or14j2 T C 17: 37,886,071 (GRCm39) Y81C probably damaging Het
Ppil3 A G 1: 58,479,992 (GRCm39) probably benign Het
Prrc2a T C 17: 35,379,154 (GRCm39) E276G unknown Het
Semp2l1 C A 1: 32,584,560 (GRCm39) R450M probably damaging Het
Semp2l1 T A 1: 32,584,561 (GRCm39) R450W probably damaging Het
Spata16 A G 3: 26,721,713 (GRCm39) E78G probably damaging Het
Tlr3 A T 8: 45,856,018 (GRCm39) I54K probably damaging Het
Tmem72 A G 6: 116,678,974 (GRCm39) L34P probably damaging Het
Triobp A G 15: 78,845,296 (GRCm39) R213G probably benign Het
Tyrp1 T A 4: 80,764,844 (GRCm39) V7D probably damaging Het
Uhrf2 A G 19: 30,052,621 (GRCm39) I372V probably benign Het
Uty T C Y: 1,158,592 (GRCm39) T484A probably benign Het
Vcan T C 13: 89,838,359 (GRCm39) D2395G probably damaging Het
Vmn1r225 T A 17: 20,723,378 (GRCm39) I273N probably damaging Het
Zfp451 C T 1: 33,842,014 (GRCm39) probably benign Het
Zfp457 T C 13: 67,441,420 (GRCm39) E385G probably benign Het
Zfp74 C T 7: 29,631,880 (GRCm39) M121I probably benign Het
Zfp866 A T 8: 70,220,359 (GRCm39) probably null Het
Zfp874a A T 13: 67,591,100 (GRCm39) C195S probably damaging Het
Other mutations in Hsd3b7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Hsd3b7 APN 7 127,402,144 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGGAGCCTTAGTGCTACAG -3'
(R):5'- AGCTGAGGTATCCCAGTCTG -3'

Sequencing Primer
(F):5'- GCTACAGGCACAGAAAACTG -3'
(R):5'- CCAGTCTGGGAAGGGATGG -3'
Posted On 2016-06-21