Mutagenetix > Incidental Mutation

Incidental Mutation 'R0299:Hsd17b7'

24770

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b7

Ensembl Gene

ENSMUSG00000026675

Gene Name

hydroxysteroid (17-beta) dehydrogenase 7

Synonyms

ERG27

MMRRC Submission

038513-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169777104-169796810 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 169787363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106985 (fasta)

Gene Model

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

AlphaFold

O88736

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.3%
20x: 90.1%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
4933427I04Rik	A	T	4: 123,754,615 (GRCm39)	R176S	possibly damaging	Het
A2ml1	T	G	6: 128,530,195 (GRCm39)		probably benign	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap4b1	T	C	3: 103,717,262 (GRCm39)	M1T	probably null	Het
Arg2	A	G	12: 79,194,386 (GRCm39)	D70G	probably damaging	Het
Atxn1	A	G	13: 45,720,645 (GRCm39)	S417P	probably damaging	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Clec2h	T	C	6: 128,647,858 (GRCm39)	V69A	probably damaging	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col16a1	TCCCC	TCCC	4: 129,952,111 (GRCm39)		probably null	Het
Degs1	A	T	1: 182,106,836 (GRCm39)	I141N	probably damaging	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dock10	T	C	1: 80,514,646 (GRCm39)	R1424G	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Frk	T	C	10: 34,360,367 (GRCm39)		probably null	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gin1	T	A	1: 97,710,741 (GRCm39)	S141R	possibly damaging	Het
Gm11596	G	A	11: 99,683,770 (GRCm39)	P117S	unknown	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Hps6	G	A	19: 45,992,671 (GRCm39)	V203M	probably damaging	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mecom	A	G	3: 30,034,560 (GRCm39)	L372P	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc2	C	T	7: 141,306,466 (GRCm39)	T296I	probably damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Or10ak14	A	T	4: 118,611,732 (GRCm39)	M1K	probably null	Het
Or10ak9	A	G	4: 118,726,613 (GRCm39)	I212V	probably benign	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Pelo	A	T	13: 115,225,439 (GRCm39)	C40*	probably null	Het
Plxnc1	C	T	10: 94,685,683 (GRCm39)		probably null	Het
Ptpru	G	A	4: 131,530,698 (GRCm39)	Q519*	probably null	Het
Pzp	A	G	6: 128,472,293 (GRCm39)		probably benign	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shtn1	T	C	19: 59,007,383 (GRCm39)	E289G	probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slamf7	G	A	1: 171,476,499 (GRCm39)		probably benign	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Suco	G	A	1: 161,681,379 (GRCm39)	T253I	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tram2	T	C	1: 21,074,468 (GRCm39)	D238G	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Trub1	A	G	19: 57,472,057 (GRCm39)	T178A	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Zfp821	G	T	8: 110,450,862 (GRCm39)	R285L	probably damaging	Het

Other mutations in Hsd17b7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Hsd17b7	APN	1	169,793,324 (GRCm39)	nonsense	probably null
IGL01923:Hsd17b7	APN	1	169,787,035 (GRCm39)	missense	probably benign
IGL02628:Hsd17b7	APN	1	169,792,058 (GRCm39)	missense	possibly damaging	0.58
IGL02830:Hsd17b7	APN	1	169,780,649 (GRCm39)	missense	probably damaging	0.98
IGL02886:Hsd17b7	APN	1	169,780,649 (GRCm39)	missense	probably damaging	0.98
IGL03064:Hsd17b7	APN	1	169,787,287 (GRCm39)	missense	probably benign	0.35
IGL03123:Hsd17b7	APN	1	169,780,649 (GRCm39)	missense	probably damaging	0.98
IGL03139:Hsd17b7	APN	1	169,780,649 (GRCm39)	missense	probably damaging	0.98
IGL03165:Hsd17b7	APN	1	169,780,649 (GRCm39)	missense	probably damaging	0.98
IGL03270:Hsd17b7	APN	1	169,780,649 (GRCm39)	missense	probably damaging	0.98
IGL03389:Hsd17b7	APN	1	169,787,320 (GRCm39)	missense	probably damaging	1.00
IGL03098:Hsd17b7	UTSW	1	169,780,649 (GRCm39)	missense	probably damaging	0.98
IGL03138:Hsd17b7	UTSW	1	169,780,649 (GRCm39)	missense	probably damaging	0.98
R0723:Hsd17b7	UTSW	1	169,783,595 (GRCm39)	missense	probably damaging	1.00
R1301:Hsd17b7	UTSW	1	169,788,774 (GRCm39)	splice site	probably benign
R1449:Hsd17b7	UTSW	1	169,787,251 (GRCm39)	splice site	probably null
R1806:Hsd17b7	UTSW	1	169,788,698 (GRCm39)	missense	possibly damaging	0.50
R1874:Hsd17b7	UTSW	1	169,783,562 (GRCm39)	missense	possibly damaging	0.70
R2365:Hsd17b7	UTSW	1	169,792,009 (GRCm39)	missense	probably damaging	1.00
R4824:Hsd17b7	UTSW	1	169,788,764 (GRCm39)	missense	probably benign	0.10
R4859:Hsd17b7	UTSW	1	169,794,826 (GRCm39)	missense	possibly damaging	0.82
R5644:Hsd17b7	UTSW	1	169,783,517 (GRCm39)	missense	probably damaging	0.99
R5889:Hsd17b7	UTSW	1	169,783,487 (GRCm39)	missense	probably benign	0.00
R8967:Hsd17b7	UTSW	1	169,796,685 (GRCm39)	nonsense	probably null
R9263:Hsd17b7	UTSW	1	169,794,833 (GRCm39)	missense	probably damaging	1.00
R9329:Hsd17b7	UTSW	1	169,794,875 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGTACGGTGTCACAGTGAGCG -3'
(R):5'- GGTCCTACTAAGCAGCAAGGACAAC -3'

Sequencing Primer
(F):5'- AACCCTTATGTCAAATGGCTGC -3'
(R):5'- CTGAGAGTCCAAACTTGCCATTC -3'

Posted On

2013-04-16