Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03064:Hsd17b7'

409601

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd17b7

Ensembl Gene

ENSMUSG00000026675

Gene Name

hydroxysteroid (17-beta) dehydrogenase 7

Synonyms

ERG27

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03064

Quality Score

Status

Chromosome

Chromosomal Location

169777104-169796810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 169787287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 239 (I239N)

Ref Sequence

ENSEMBL: ENSMUSP00000106985 (fasta)

Gene Model

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

AlphaFold

O88736

Predicted Effect

probably benign
Transcript: ENSMUST00000027989
AA Change: I239N

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675
AA Change: I239N

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
AA Change: I239N

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675
AA Change: I239N

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

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,174,864 (GRCm39)	T210A	probably damaging	Het
Adgb	T	A	10: 10,276,316 (GRCm39)	T351S	probably benign	Het
Akap9	A	G	5: 4,018,755 (GRCm39)	H1112R	probably damaging	Het
Angptl6	A	T	9: 20,786,939 (GRCm39)	Y261*	probably null	Het
Arhgef10l	A	C	4: 140,306,590 (GRCm39)	F395V	probably damaging	Het
Bub1	T	C	2: 127,659,373 (GRCm39)	N328S	probably benign	Het
Cacna1s	A	G	1: 136,039,731 (GRCm39)	N1186D	probably damaging	Het
Cacna2d2	C	A	9: 107,386,474 (GRCm39)	F200L	probably damaging	Het
Calca	G	A	7: 114,232,919 (GRCm39)	S110L	probably benign	Het
Ccdc120	G	A	X: 7,601,601 (GRCm39)	P263S	probably benign	Het
Dcaf8l	A	G	X: 88,448,857 (GRCm39)	V424A	possibly damaging	Het
Dgki	C	A	6: 37,126,599 (GRCm39)		probably benign	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
F5	A	T	1: 164,023,163 (GRCm39)	T1574S	probably benign	Het
Fam227b	T	C	2: 125,968,762 (GRCm39)		probably null	Het
Gm20521	T	A	14: 55,134,680 (GRCm39)	S301T	possibly damaging	Het
Itih1	C	A	14: 30,663,514 (GRCm39)	E163D	probably benign	Het
Lama1	A	T	17: 68,086,099 (GRCm39)	Y1446F	probably benign	Het
Lama3	C	T	18: 12,572,406 (GRCm39)	T537M	possibly damaging	Het
Lars1	G	T	18: 42,354,636 (GRCm39)	Y770*	probably null	Het
Lrp2	A	T	2: 69,313,477 (GRCm39)	V2418E	probably damaging	Het
Maip1	A	G	1: 57,446,359 (GRCm39)	E143G	probably damaging	Het
Mast4	G	T	13: 102,897,472 (GRCm39)	S739*	probably null	Het
Mctp1	C	T	13: 76,949,632 (GRCm39)	Q555*	probably null	Het
Med14	A	T	X: 12,613,742 (GRCm39)	D291E	probably benign	Het
Mgat2	T	A	12: 69,231,777 (GRCm39)	V117D	probably damaging	Het
Mllt1	A	T	17: 57,207,094 (GRCm39)	M250K	probably benign	Het
Myt1	A	C	2: 181,439,594 (GRCm39)	Y372S	probably benign	Het
Naa16	T	A	14: 79,577,068 (GRCm39)	Q735H	probably damaging	Het
Ncf4	A	G	15: 78,135,102 (GRCm39)	Y53C	probably damaging	Het
Nlrp4a	A	T	7: 26,148,934 (GRCm39)	K180N	probably benign	Het
Nova1	A	G	12: 46,746,861 (GRCm39)	V472A	probably damaging	Het
Nup153	T	C	13: 46,847,315 (GRCm39)	T705A	probably benign	Het
Odf2	T	A	2: 29,791,091 (GRCm39)	N79K	probably benign	Het
Or4f7	A	G	2: 111,644,768 (GRCm39)	I101T	possibly damaging	Het
Pard3b	G	A	1: 62,237,930 (GRCm39)		probably benign	Het
Pde8b	G	A	13: 95,182,906 (GRCm39)	T388I	probably damaging	Het
Phactr2	A	G	10: 13,264,457 (GRCm39)		probably benign	Het
Phf12	T	C	11: 77,874,186 (GRCm39)	S17P	probably damaging	Het
Psmg2	T	A	18: 67,779,102 (GRCm39)	L90*	probably null	Het
Ryr2	T	C	13: 11,658,788 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,423,952 (GRCm39)	F534L	probably benign	Het
Sin3b	A	G	8: 73,483,686 (GRCm39)		probably benign	Het
Slc30a5	A	T	13: 100,947,818 (GRCm39)	L463Q	probably damaging	Het
Slc35g3	T	C	11: 69,651,895 (GRCm39)	H52R	possibly damaging	Het
Slc6a3	G	T	13: 73,719,585 (GRCm39)	S538I	probably damaging	Het
Socs2	G	T	10: 95,248,713 (GRCm39)	C133*	probably null	Het
Srebf2	G	A	15: 82,076,423 (GRCm39)	R691H	probably benign	Het
Tlr11	C	A	14: 50,598,557 (GRCm39)	P181Q	probably damaging	Het
Tlr7	T	A	X: 166,089,203 (GRCm39)	Q761L	possibly damaging	Het
Tmem120b	T	A	5: 123,240,336 (GRCm39)	Y90N	possibly damaging	Het
Tpcn1	T	C	5: 120,675,631 (GRCm39)	I778V	possibly damaging	Het
Ttll8	T	C	15: 88,803,797 (GRCm39)	T385A	probably benign	Het
Vmn1r223	G	A	13: 23,434,153 (GRCm39)	R249H	probably damaging	Het
Vmn2r53	A	T	7: 12,334,937 (GRCm39)	I241N	possibly damaging	Het
Wdfy3	T	C	5: 102,083,863 (GRCm39)	R808G	probably damaging	Het
Zfyve26	T	A	12: 79,308,565 (GRCm39)	S231C	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
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
R0299:Hsd17b7	UTSW	1	169,787,363 (GRCm39)	splice site	probably benign
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

Posted On

2016-08-02