Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Hsd17b7'

372292

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b7

Ensembl Gene

ENSMUSG00000026675

Gene Name

hydroxysteroid (17-beta) dehydrogenase 7

Synonyms

ERG27

MMRRC Submission

042470-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169777104-169796810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 169794826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 71 (V71G)

Ref Sequence

ENSEMBL: ENSMUSP00000027989 (fasta)

Gene Model

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

AlphaFold

O88736

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027989
AA Change: V71G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675
AA Change: V71G

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

possibly damaging
Transcript: ENSMUST00000111353
AA Change: V71G

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675
AA Change: V71G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193930

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,580 (GRCm39)	V282E	probably benign	Het
Adam26b	T	C	8: 43,973,296 (GRCm39)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,509,609 (GRCm39)	N661D	probably damaging	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,628,438 (GRCm39)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 44,796,731 (GRCm39)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,459,748 (GRCm39)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,397,131 (GRCm39)	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,853,287 (GRCm39)	T743S	probably benign	Het
Bag2	G	T	1: 33,786,022 (GRCm39)	T100K	probably damaging	Het
Camk2a	A	G	18: 61,076,246 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,781,262 (GRCm39)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,324,653 (GRCm39)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,418 (GRCm39)	V405A	probably benign	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,667,554 (GRCm39)	F510L	probably benign	Het
Chd3	A	T	11: 69,250,722 (GRCm39)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,456,532 (GRCm39)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,868,565 (GRCm39)	V1371A	probably damaging	Het
Dars2	A	G	1: 160,872,560 (GRCm39)	L547P	probably damaging	Het
Dis3	A	G	14: 99,325,226 (GRCm39)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,395,762 (GRCm39)	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 67,066,888 (GRCm39)	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,500,923 (GRCm39)	F509L	probably benign	Het
Evc	T	C	5: 37,458,253 (GRCm39)	T85A	probably damaging	Het
Farsb	T	C	1: 78,444,609 (GRCm39)	T283A	probably benign	Het
Fem1al	G	T	11: 29,775,178 (GRCm39)	A93E	probably damaging	Het
Fgf14	C	A	14: 124,429,845 (GRCm39)	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,275,289 (GRCm39)	L363P	probably damaging	Het
Gcg	A	G	2: 62,307,189 (GRCm39)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,176,963 (GRCm39)		probably benign	Het
Gm5431	T	C	11: 48,780,409 (GRCm39)	E449G	probably damaging	Het
Gon4l	T	C	3: 88,802,655 (GRCm39)	S1089P	probably benign	Het
Hgd	T	C	16: 37,409,111 (GRCm39)	L25P	probably damaging	Het
Hnf1a	T	C	5: 115,093,311 (GRCm39)	H318R	possibly damaging	Het
Hydin	T	C	8: 111,233,126 (GRCm39)	S1742P	possibly damaging	Het
Insyn2b	A	G	11: 34,353,154 (GRCm39)	S399G	probably benign	Het
Kank2	T	C	9: 21,691,078 (GRCm39)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,573,810 (GRCm39)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,604,540 (GRCm39)	*201W	probably null	Het
Kndc1	T	C	7: 139,501,821 (GRCm39)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lonp1	A	G	17: 56,933,587 (GRCm39)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,469,478 (GRCm39)	K189E	possibly damaging	Het
Msantd5f8	A	G	4: 73,805,457 (GRCm39)	S351P	probably damaging	Het
Msh2	G	A	17: 88,026,187 (GRCm39)	V722I	possibly damaging	Het
Mtcl3	A	C	10: 29,026,390 (GRCm39)	M491L	probably benign	Het
N4bp2	T	C	5: 65,982,641 (GRCm39)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,743,032 (GRCm39)	K862T	probably damaging	Het
Notch4	A	T	17: 34,806,154 (GRCm39)	Q1750L	probably damaging	Het
Obscn	C	T	11: 58,972,849 (GRCm39)	V2066I	possibly damaging	Het
Or2v2	T	C	11: 49,003,993 (GRCm39)	K187E	probably damaging	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or4f14b	A	T	2: 111,775,156 (GRCm39)	I215N	probably damaging	Het
Or52d13	A	T	7: 103,110,243 (GRCm39)	Y57*	probably null	Het
Or5m8	T	C	2: 85,823,075 (GRCm39)	S305P	probably damaging	Het
Pde7a	T	A	3: 19,295,655 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,575,892 (GRCm39)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,003,449 (GRCm39)	E87D	probably damaging	Het
Prss3	T	A	6: 41,350,857 (GRCm39)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,526,989 (GRCm39)	E413G	probably benign	Het
Rnf150	A	G	8: 83,590,712 (GRCm39)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,488,934 (GRCm39)		probably null	Het
Scap	T	A	9: 110,203,410 (GRCm39)		probably benign	Het
Sdc2	A	C	15: 33,032,602 (GRCm39)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,851,547 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,146,164 (GRCm39)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,259,441 (GRCm39)	I46T	probably damaging	Het
Slfn8	A	G	11: 82,908,540 (GRCm39)	M1T	probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tbck	T	G	3: 132,507,288 (GRCm39)	S753R	probably benign	Het
Tdp1	A	G	12: 99,876,070 (GRCm39)	I340M	probably benign	Het
Tmprss6	T	A	15: 78,330,877 (GRCm39)	Y50F	probably damaging	Het
Trank1	T	A	9: 111,194,078 (GRCm39)	S701T	probably benign	Het
Trbv17	A	T	6: 41,140,223 (GRCm39)	N26I	probably benign	Het
Trip12	A	T	1: 84,771,531 (GRCm39)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,335,330 (GRCm39)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 85,797,611 (GRCm39)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,507,415 (GRCm39)	M14K	probably null	Het
Xcr1	T	A	9: 123,685,712 (GRCm39)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,716,070 (GRCm39)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,942,511 (GRCm39)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,942,516 (GRCm39)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,555,283 (GRCm39)		noncoding transcript	Het
Zyg11a	A	T	4: 108,067,387 (GRCm39)	I41N	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
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
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'- GACTCCCTCAGCACAACTTG -3'
(R):5'- AATTCTCCCTTCAGTGGCATTG -3'

Sequencing Primer
(F):5'- CCTGACCTGTCCAGTTTGATTAAATG -3'
(R):5'- TCAGTGGCATTGGGCTAGCC -3'

Posted On

2016-03-01