Mutagenetix > Incidental Mutation

Incidental Mutation 'R7067:Hsd3b7'

568643

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

045163-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7067 (G1)

Quality Score

45.0074

Status

Validated

Chromosome

Chromosomal Location

127399830-127402975 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 127399888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146308 (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 benign
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 benign
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 null
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

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 90,852,921 (GRCm39)	S72C	probably damaging	Het
Abca13	A	G	11: 9,241,845 (GRCm39)	D1236G	probably benign	Het
Abcc6	T	C	7: 45,668,114 (GRCm39)	N165D	probably benign	Het
Aebp1	A	G	11: 5,816,431 (GRCm39)		probably null	Het
Afg2a	C	T	3: 37,485,847 (GRCm39)	Q190*	probably null	Het
Anapc4	A	G	5: 53,019,577 (GRCm39)	T580A	probably benign	Het
Apob	T	C	12: 8,059,423 (GRCm39)	I2602T	probably damaging	Het
Arap2	A	G	5: 62,811,387 (GRCm39)		probably null	Het
Asap3	T	A	4: 135,968,673 (GRCm39)		probably null	Het
Bend4	A	G	5: 67,557,611 (GRCm39)	Y402H	probably damaging	Het
Ccn2	A	G	10: 24,472,873 (GRCm39)	Y261C	probably benign	Het
Crtc2	A	G	3: 90,167,489 (GRCm39)	N271S	probably benign	Het
Csf2rb2	A	T	15: 78,176,694 (GRCm39)	W233R	probably damaging	Het
Cyp2u1	G	A	3: 131,087,202 (GRCm39)	L460F	probably damaging	Het
Dnm3	A	G	1: 162,148,540 (GRCm39)	L277P	probably damaging	Het
Efemp1	A	T	11: 28,817,926 (GRCm39)	N135I	probably damaging	Het
Elapor2	G	T	5: 9,316,295 (GRCm39)	A9S	possibly damaging	Het
Fsip2	T	A	2: 82,811,078 (GRCm39)	S2466T	possibly damaging	Het
Gal3st2	C	T	1: 93,802,447 (GRCm39)	A276V	possibly damaging	Het
Gm47985	A	T	1: 151,059,241 (GRCm39)	D294V	unknown	Het
Golga1	A	T	2: 38,937,731 (GRCm39)	D104E	probably benign	Het
Hnrnpr	C	T	4: 136,054,704 (GRCm39)	A219V	probably damaging	Het
Hspa8	T	C	9: 40,715,921 (GRCm39)	I562T	probably damaging	Het
Htra4	C	T	8: 25,523,717 (GRCm39)	V283M	probably damaging	Het
Il36rn	C	T	2: 24,167,541 (GRCm39)	R11*	probably null	Het
Iqcd	A	G	5: 120,743,212 (GRCm39)	T325A	probably damaging	Het
Kif23	A	T	9: 61,832,271 (GRCm39)	M624K	probably benign	Het
Krt25	G	T	11: 99,208,209 (GRCm39)	Q340K	probably benign	Het
Lamp3	T	A	16: 19,518,413 (GRCm39)	N275Y	probably damaging	Het
Lpin2	A	C	17: 71,551,853 (GRCm39)	K789T	possibly damaging	Het
Mroh2b	T	C	15: 4,929,986 (GRCm39)	I24T	probably benign	Het
Muc16	T	A	9: 18,569,547 (GRCm39)	I991F	unknown	Het
Ntf5	T	A	7: 45,065,048 (GRCm39)	L60Q	probably damaging	Het
Nuak1	A	G	10: 84,276,158 (GRCm39)	S22P	possibly damaging	Het
Obox8	T	C	7: 14,066,979 (GRCm39)	T22A	possibly damaging	Het
Or8k21	T	A	2: 86,144,911 (GRCm39)	T240S	probably damaging	Het
Pde8a	T	C	7: 80,967,074 (GRCm39)	V405A	probably benign	Het
Phc2	T	C	4: 128,640,934 (GRCm39)	S147P	probably benign	Het
Pole	G	T	5: 110,482,084 (GRCm39)	G142V	probably damaging	Het
Poli	G	A	18: 70,642,488 (GRCm39)	Q508*	probably null	Het
Repin1	T	A	6: 48,574,850 (GRCm39)	L537*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Slc30a2	T	A	4: 134,071,529 (GRCm39)		probably null	Het
Slit3	A	G	11: 35,399,057 (GRCm39)	S141G	probably benign	Het
Spon2	A	G	5: 33,371,958 (GRCm39)	S283P	probably damaging	Het
Srgap3	A	T	6: 112,734,266 (GRCm39)		probably benign	Het
Syde2	A	G	3: 145,694,019 (GRCm39)	D89G	probably benign	Het
Syne1	A	G	10: 5,184,586 (GRCm39)	I4099T	probably damaging	Het
Syt5	T	C	7: 4,546,075 (GRCm39)	D105G	probably benign	Het
Tlx3	C	T	11: 33,153,204 (GRCm39)	G86S	probably damaging	Het
Trim24	A	T	6: 37,934,775 (GRCm39)		probably null	Het
Umodl1	G	A	17: 31,201,246 (GRCm39)	V392I	probably damaging	Het
Unc80	C	A	1: 66,685,731 (GRCm39)	T2285K	possibly damaging	Het
Vars1	G	A	17: 35,230,455 (GRCm39)	V513I	probably damaging	Het
Vmn1r87	T	A	7: 12,865,849 (GRCm39)	Q146L	probably benign	Het
Vmn2r62	T	C	7: 42,414,302 (GRCm39)	I714V	probably benign	Het
Xbp1	T	A	11: 5,474,275 (GRCm39)	S159T	probably damaging	Het
Xrn1	T	A	9: 95,851,565 (GRCm39)	H194Q	probably damaging	Het
Zc3h4	A	T	7: 16,162,976 (GRCm39)	K459*	probably null	Het
Zdhhc6	G	A	19: 55,292,871 (GRCm39)	R292*	probably null	Het
Zfp383	T	A	7: 29,608,071 (GRCm39)	M1K	probably null	Het
Zfp703	A	G	8: 27,469,044 (GRCm39)	D236G	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
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'- TCCTTTGCCTGCCACTGAAG -3'
(R):5'- GTCACTAGAATTGGATGCAGAATGG -3'

Sequencing Primer
(F):5'- GGGCACTCTGGCAAGAAAATTCC -3'
(R):5'- TGCAGAATGGGAGGGATTG -3'

Posted On

2019-09-05