Mutagenetix > Incidental Mutation

Incidental Mutation 'R7910:Hsd3b7'

610440

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

045959-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7910 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127399830-127402975 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 127400419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046863] [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000106267] [ENSMUST00000106271] [ENSMUST00000106272] [ENSMUST00000125188] [ENSMUST00000138432] [ENSMUST00000139068] [ENSMUST00000154987] [ENSMUST00000155005] [ENSMUST00000206674]

AlphaFold

Q9EQC1

Predicted Effect

probably null
Transcript: ENSMUST00000046863

SMART Domains

Protein: ENSMUSP00000036245
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000101878
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000101879
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
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: ENSMUST00000125188

Predicted Effect

probably benign
Transcript: ENSMUST00000136823

Predicted Effect

probably null
Transcript: ENSMUST00000138432

SMART Domains

Protein: ENSMUSP00000114536
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:3Beta_HSD	18	78	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139068

SMART Domains

Protein: ENSMUSP00000121246
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:3Beta_HSD	13	55	2.7e-13	PFAM
Pfam:3Beta_HSD	53	100	3.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154987

Predicted Effect

probably benign
Transcript: ENSMUST00000155005

Predicted Effect

probably null
Transcript: ENSMUST00000206674

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	A	T	6: 65,930,289 (GRCm39)	T175S	probably benign	Het
Abca13	A	G	11: 9,531,590 (GRCm39)	I4606V	probably damaging	Het
Abca3	G	A	17: 24,604,827 (GRCm39)	V645I	probably benign	Het
Abi3bp	A	T	16: 56,498,105 (GRCm39)	R980*	probably null	Het
Acsl6	G	T	11: 54,236,797 (GRCm39)	G564*	probably null	Het
Alppl2	T	C	1: 87,015,159 (GRCm39)	E430G	probably benign	Het
Anks1b	A	G	10: 90,516,654 (GRCm39)	Y883C	probably damaging	Het
Atp11b	T	C	3: 35,885,652 (GRCm39)	F882L	possibly damaging	Het
Atrn	T	A	2: 130,806,807 (GRCm39)	H609Q	probably benign	Het
Bcl2l13	A	T	6: 120,842,646 (GRCm39)	K113M	possibly damaging	Het
Brinp2	T	A	1: 158,074,450 (GRCm39)	N557I	probably damaging	Het
C4b	A	G	17: 34,959,326 (GRCm39)	L416P	probably benign	Het
Ccdc125	T	A	13: 100,819,327 (GRCm39)	I163K	possibly damaging	Het
Ccdc136	T	G	6: 29,420,033 (GRCm39)	D1075E	probably benign	Het
Cdc45	T	A	16: 18,629,203 (GRCm39)	Y47F	probably damaging	Het
Cdk10	T	C	8: 123,953,105 (GRCm39)	V36A	probably damaging	Het
Ciz1	T	A	2: 32,260,139 (GRCm39)		probably null	Het
Clasp1	T	G	1: 118,530,144 (GRCm39)	L1502*	probably null	Het
Crtc1	G	T	8: 70,840,251 (GRCm39)	Q541K	probably benign	Het
Ddx5	G	T	11: 106,675,261 (GRCm39)	T358N	probably damaging	Het
Ehbp1l1	A	T	19: 5,766,452 (GRCm39)	V1297E	probably benign	Het
Eif2d	C	A	1: 131,082,950 (GRCm39)	T98K	probably damaging	Het
Ezh2	T	C	6: 47,533,077 (GRCm39)	D124G	probably damaging	Het
Gamt	T	G	10: 80,094,243 (GRCm39)	I223L	possibly damaging	Het
Gbp7	T	C	3: 142,240,402 (GRCm39)	V40A	probably damaging	Het
Gm11992	A	G	11: 8,999,165 (GRCm39)	E7G	probably damaging	Het
Gml2	A	G	15: 74,692,379 (GRCm39)		probably null	Het
Grem2	A	G	1: 174,664,813 (GRCm39)	V12A	probably benign	Het
Gsta1	T	A	9: 78,139,577 (GRCm39)	I19N	probably damaging	Het
Gstt2	T	C	10: 75,667,736 (GRCm39)	I240V	probably benign	Het
Hectd4	T	C	5: 121,392,291 (GRCm39)	L185S	possibly damaging	Het
Ift22	T	A	5: 136,940,638 (GRCm39)	M101K	probably benign	Het
Irs1	A	G	1: 82,267,802 (GRCm39)	V138A	probably benign	Het
Ky	A	G	9: 102,419,141 (GRCm39)	M383V	possibly damaging	Het
Lama4	A	G	10: 38,946,005 (GRCm39)	E796G	probably damaging	Het
Lcp2	A	G	11: 34,038,061 (GRCm39)	Y426C	probably damaging	Het
Lig3	A	G	11: 82,688,601 (GRCm39)	D755G	probably damaging	Het
Lrrc43	T	A	5: 123,630,470 (GRCm39)	I111N	probably damaging	Het
Lrrc43	A	G	5: 123,639,084 (GRCm39)	D371G	probably benign	Het
Lrrc74b	C	A	16: 17,376,213 (GRCm39)	G146*	probably null	Het
Lrrfip1	A	G	1: 91,047,874 (GRCm39)	K479E	possibly damaging	Het
Lrriq1	C	A	10: 103,051,055 (GRCm39)	E566*	probably null	Het
Mlxipl	C	T	5: 135,161,263 (GRCm39)	A394V	possibly damaging	Het
Myh14	T	C	7: 44,281,819 (GRCm39)	Y813C	probably damaging	Het
Nat10	T	A	2: 103,555,490 (GRCm39)	E943D	probably benign	Het
Nectin2	T	A	7: 19,466,912 (GRCm39)	K226*	probably null	Het
Nlrc5	T	G	8: 95,219,720 (GRCm39)	S1103R	probably benign	Het
Nr4a1	T	A	15: 101,169,641 (GRCm39)	Y304N	probably damaging	Het
Ntpcr	T	C	8: 126,474,483 (GRCm39)	V184A	probably benign	Het
Or1j13	T	A	2: 36,369,345 (GRCm39)	N266Y	probably damaging	Het
Or5p73	T	C	7: 108,064,978 (GRCm39)	V149A	probably benign	Het
Or5t18	A	G	2: 86,637,191 (GRCm39)	S51P	probably benign	Het
Oxr1	A	C	15: 41,517,030 (GRCm39)	S65R	possibly damaging	Het
Pcdhb19	A	T	18: 37,630,720 (GRCm39)	I172L	probably benign	Het
Pds5a	A	T	5: 65,795,925 (GRCm39)	I655N	possibly damaging	Het
Pik3cg	T	C	12: 32,250,516 (GRCm39)	Y757C	probably benign	Het
Plekha5	C	A	6: 140,472,184 (GRCm39)	T37N	possibly damaging	Het
Ppp4r1	T	A	17: 66,118,298 (GRCm39)	F167I	probably benign	Het
Ppp4r1	C	T	17: 66,136,394 (GRCm39)	A534V	probably damaging	Het
Ppt2	T	A	17: 34,846,300 (GRCm39)		probably null	Het
Prrt2	A	T	7: 126,619,219 (GRCm39)	V82D	possibly damaging	Het
Rassf5	T	A	1: 131,108,366 (GRCm39)	Y338F	probably benign	Het
Rbbp6	G	A	7: 122,596,251 (GRCm39)	V560I	possibly damaging	Het
Rcbtb1	T	C	14: 59,474,127 (GRCm39)	M90T	unknown	Het
Rif1	T	A	2: 51,968,399 (GRCm39)	L194*	probably null	Het
Rybp	A	T	6: 100,209,879 (GRCm39)	I128K	possibly damaging	Het
Samm50	T	G	15: 84,098,346 (GRCm39)	F462V	possibly damaging	Het
Slain1	T	C	14: 103,923,200 (GRCm39)	Y264H	probably damaging	Het
Slc29a4	C	T	5: 142,691,156 (GRCm39)	P12L	probably benign	Het
Slc6a2	T	C	8: 93,720,766 (GRCm39)	I461T	possibly damaging	Het
Soat2	A	G	15: 102,069,106 (GRCm39)	D377G	probably damaging	Het
Spocd1	A	G	4: 129,823,893 (GRCm39)	E230G		Het
Tbc1d30	T	A	10: 121,183,061 (GRCm39)	K126*	probably null	Het
Tgfbi	T	A	13: 56,779,997 (GRCm39)	F515L	probably damaging	Het
Utf1	A	G	7: 139,524,704 (GRCm39)		probably benign	Het
Vmn1r206	G	T	13: 22,804,471 (GRCm39)	Y245*	probably null	Het
Vmn1r87	T	A	7: 12,865,832 (GRCm39)	S152C	probably damaging	Het
Zfc3h1	C	A	10: 115,256,588 (GRCm39)	Y1519*	probably null	Het
Zfp248	A	T	6: 118,407,103 (GRCm39)	L162H	possibly damaging	Het
Zfp804a	T	A	2: 82,086,917 (GRCm39)	F249I	probably damaging	Het

Other mutations in Hsd3b7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8172:Hsd3b7	UTSW	7	127,401,546 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAGCTAAATTCTCTTCCCACAG -3'
(R):5'- TCATGGGCCTGAGTCACATC -3'

Sequencing Primer
(F):5'- AGCTGGGCATGGCAGACTC -3'
(R):5'- TCAGAGCTGGGGCCTTAG -3'

Posted On

2019-12-20