Mutagenetix > Incidental Mutations

Incidental Mutation 'R1301:Hsd17b7'

158343

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b7

Ensembl Gene

ENSMUSG00000026675

Gene Name

hydroxysteroid (17-beta) dehydrogenase 7

Synonyms

ERG27

MMRRC Submission

039367-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169949535-169969241 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 169961205 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027989] [ENSMUST00000111353]

Predicted Effect

probably benign
Transcript: ENSMUST00000027989

SMART Domains

Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675

Domain	Start	End	E-Value	Type
Pfam:adh_short	3	104	2.2e-16	PFAM
Pfam:KR	4	102	2.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111353

SMART Domains

Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675

Domain	Start	End	E-Value	Type
Pfam:KR	3	103	2.3e-8	PFAM
Pfam:adh_short	3	236	5.2e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133563

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality, abnormal brain development, abnormal branchial arches, pericardial effusion, and abnormal cardiovascular development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	A	G	7: 144,633,689	W447R	possibly damaging	Het
Blm	T	A	7: 80,455,417	K103*	probably null	Het
Camta2	A	G	11: 70,676,404	I675T	probably benign	Het
Catsperz	G	A	19: 6,925,082	R15C	probably damaging	Het
Chd1l	T	C	3: 97,603,648		probably benign	Het
Corin	C	A	5: 72,304,933	E844D	possibly damaging	Het
Cyb5rl	T	G	4: 107,080,907	M127R	probably damaging	Het
Dcdc2a	A	T	13: 25,102,586	N164I	possibly damaging	Het
Dnah6	A	G	6: 73,208,545		probably null	Het
Emilin2	T	C	17: 71,255,965		probably benign	Het
Epb41l2	T	A	10: 25,443,902	V211D	probably damaging	Het
Fbxo47	C	T	11: 97,868,601	M166I	probably benign	Het
Gm13124	T	A	4: 144,565,065	I24L	probably benign	Het
Gm4450	G	A	3: 98,446,866	Q106*	probably null	Het
Golm1	T	C	13: 59,638,373	D335G	probably damaging	Het
Gpn1	T	A	5: 31,503,429	M188K	probably damaging	Het
Gpr84	T	A	15: 103,309,219	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,201	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,867,059		probably null	Het
Hmgcr	G	A	13: 96,659,020	T347I	probably damaging	Het
Klhl7	T	G	5: 24,159,491	W508G	probably damaging	Het
Lrp2	C	A	2: 69,428,604	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 158,135,331	N1357D	probably benign	Het
Macf1	T	C	4: 123,486,658		probably benign	Het
Mroh7	T	C	4: 106,720,495	T329A	probably damaging	Het
Mroh9	C	T	1: 163,043,983		probably null	Het
Mta2	A	G	19: 8,949,186		probably benign	Het
Myo3a	A	T	2: 22,267,095		probably benign	Het
Nrip2	A	G	6: 128,407,389	D153G	probably benign	Het
Nup133	T	C	8: 123,917,417		probably benign	Het
Nup210	C	T	6: 91,042,347	V259M	possibly damaging	Het
Olfr1338	C	T	4: 118,753,619	M308I	probably benign	Het
Olfr1466	A	T	19: 13,341,847	I30F	probably benign	Het
Olfr1499	A	T	19: 13,815,362	V76D	probably damaging	Het
Otog	C	T	7: 46,289,689	R2048C	probably damaging	Het
Paqr7	T	C	4: 134,507,813	L327P	probably damaging	Het
Parl	A	G	16: 20,286,926	S249P	probably damaging	Het
Phc1	A	G	6: 122,325,874	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,110,831		probably null	Het
Plpp1	A	G	13: 112,834,943	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,628,887	F194L	probably benign	Het
Rp1	A	T	1: 4,345,936	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 32,896,960	R47*	probably null	Het
Sis	T	C	3: 72,946,582	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,282,478	D209G	probably benign	Het
Slc26a4	A	T	12: 31,525,568	C706*	probably null	Het
Slc37a2	A	G	9: 37,236,881	V325A	probably benign	Het
Speg	T	A	1: 75,401,501	D784E	probably damaging	Het
Sycp1	T	C	3: 102,920,622	I270V	probably benign	Het
Tatdn2	T	A	6: 113,704,115	F309I	probably damaging	Het
Tmem206	T	C	1: 191,348,435	V284A	probably damaging	Het
Tmem67	T	C	4: 12,089,400		probably benign	Het
Trpm1	T	A	7: 64,203,053		probably null	Het
Wrn	T	C	8: 33,292,686	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,063,397	V2299A	probably benign	Het
Zfp819	T	A	7: 43,617,100	S260T	possibly damaging	Het

Other mutations in Hsd17b7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Hsd17b7	APN	1	169965755	nonsense	probably null
IGL01923:Hsd17b7	APN	1	169959466	missense	probably benign
IGL02628:Hsd17b7	APN	1	169964489	missense	possibly damaging	0.58
IGL02830:Hsd17b7	APN	1	169953080	missense	probably damaging	0.98
IGL02886:Hsd17b7	APN	1	169953080	missense	probably damaging	0.98
IGL03064:Hsd17b7	APN	1	169959718	missense	probably benign	0.35
IGL03123:Hsd17b7	APN	1	169953080	missense	probably damaging	0.98
IGL03139:Hsd17b7	APN	1	169953080	missense	probably damaging	0.98
IGL03165:Hsd17b7	APN	1	169953080	missense	probably damaging	0.98
IGL03270:Hsd17b7	APN	1	169953080	missense	probably damaging	0.98
IGL03389:Hsd17b7	APN	1	169959751	missense	probably damaging	1.00
IGL03098:Hsd17b7	UTSW	1	169953080	missense	probably damaging	0.98
IGL03138:Hsd17b7	UTSW	1	169953080	missense	probably damaging	0.98
R0299:Hsd17b7	UTSW	1	169959794	splice site	probably benign
R0723:Hsd17b7	UTSW	1	169956026	missense	probably damaging	1.00
R1449:Hsd17b7	UTSW	1	169959682	splice site	probably null
R1806:Hsd17b7	UTSW	1	169961129	missense	possibly damaging	0.50
R1874:Hsd17b7	UTSW	1	169955993	missense	possibly damaging	0.70
R2365:Hsd17b7	UTSW	1	169964440	missense	probably damaging	1.00
R4824:Hsd17b7	UTSW	1	169961195	missense	probably benign	0.10
R4859:Hsd17b7	UTSW	1	169967257	missense	possibly damaging	0.82
R5644:Hsd17b7	UTSW	1	169955948	missense	probably damaging	0.99
R5889:Hsd17b7	UTSW	1	169955918	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGCTTGTCTCTCCCCTAAGAAAC -3'
(R):5'- TGAACAAACCGTAATGTCTGTACCCC -3'

Sequencing Primer
(F):5'- ACTTTGGCATCTCTGAGACAG -3'
(R):5'- GTAATGTCTGTACCCCTTCCTC -3'

Posted On

2014-02-18