Mutagenetix > Incidental Mutations

Incidental Mutation 'R5027:Hsd17b3'

391464

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b3

Ensembl Gene

ENSMUSG00000033122

Gene Name

hydroxysteroid (17-beta) dehydrogenase 3

Synonyms

17(beta)HSD type 3

MMRRC Submission

042618-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64058266-64089230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64062906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 212 (Y212H)

Ref Sequence

ENSEMBL: ENSMUSP00000152848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039832] [ENSMUST00000166224] [ENSMUST00000222783] [ENSMUST00000222810]

AlphaFold

P70385

Predicted Effect

probably damaging
Transcript: ENSMUST00000039832
AA Change: Y212H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: Y212H

Domain	Start	End	E-Value	Type
Pfam:adh_short	45	213	3.4e-26	PFAM
Pfam:adh_short_C2	51	272	1.2e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166224
AA Change: Y212H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: Y212H

Domain	Start	End	E-Value	Type
Pfam:adh_short	45	240	2.4e-48	PFAM
Pfam:adh_short_C2	51	272	3.8e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000221513
AA Change: Y29H

Predicted Effect

probably damaging
Transcript: ENSMUST00000222783
AA Change: Y212H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222810

Meta Mutation Damage Score

0.6785

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (97/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,221	K54E	probably damaging	Het
Abca14	T	G	7: 120,312,282	I1363R	probably benign	Het
Abcc1	T	C	16: 14,404,053		probably null	Het
Adgrf1	T	A	17: 43,303,747	F241I	probably damaging	Het
Afg3l1	T	C	8: 123,489,814	M264T	probably benign	Het
Ankle1	T	C	8: 71,408,979	S434P	probably damaging	Het
Apoe	C	T	7: 19,697,015	A101T	probably damaging	Het
Apol11a	G	T	15: 77,516,953	K213N	probably damaging	Het
Asap2	A	G	12: 21,204,081	M198V	probably damaging	Het
Atg4b	C	T	1: 93,786,575	A360V	probably benign	Het
B3gnt5	T	A	16: 19,769,694	V221D	probably damaging	Het
Baz2b	A	T	2: 60,098,644		probably benign	Het
Cep350	C	A	1: 155,933,354	W492L	probably benign	Het
Cln6	A	G	9: 62,847,093	Y139C	probably damaging	Het
Col16a1	C	T	4: 130,079,195	T643M	probably benign	Het
Cul9	C	T	17: 46,500,782	E2507K	probably damaging	Het
Ddx58	T	A	4: 40,208,845	M756L	probably benign	Het
Dgkz	A	T	2: 91,945,543	V125D	probably benign	Het
Dnah17	T	C	11: 118,102,539	M1127V	probably benign	Het
Dnajb1	C	A	8: 83,610,103	D67E	probably benign	Het
Dync1li1	A	G	9: 114,713,544	D258G	probably damaging	Het
Egflam	G	T	15: 7,253,644	P311T	probably benign	Het
Fbxw11	T	A	11: 32,652,811		probably benign	Het
Fn3krp	T	G	11: 121,429,448	D206E	probably benign	Het
Fsip2	A	G	2: 82,989,133	H5070R	possibly damaging	Het
Gm6169	A	G	13: 97,099,140	I33T	probably benign	Het
Gm6605	T	C	7: 38,450,259		noncoding transcript	Het
Gna14	C	A	19: 16,603,272	T158K	probably benign	Het
Gstt2	A	T	10: 75,831,892	I243N	probably damaging	Het
Haus6	C	T	4: 86,605,696	D50N	possibly damaging	Het
Hcrtr2	A	G	9: 76,323,296	I70T	probably benign	Het
Herc1	G	A	9: 66,473,529	V3563I	probably benign	Het
Herc1	A	T	9: 66,504,618	I4707F	probably damaging	Het
Hic2	C	T	16: 17,258,747	A480V	possibly damaging	Het
Hspa5	A	G	2: 34,775,815	K557R	probably damaging	Het
Iqch	T	C	9: 63,525,012	E367G	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Lars2	A	G	9: 123,441,495	M551V	probably benign	Het
Lbp	T	C	2: 158,308,726	I57T	possibly damaging	Het
Litaf	T	C	16: 10,961,004	Q142R	possibly damaging	Het
Lpar5	G	C	6: 125,082,147	R277P	possibly damaging	Het
Muc6	T	A	7: 141,636,436	I2710F	probably benign	Het
Myo7b	T	A	18: 31,975,212	I1199F	probably benign	Het
Naca	A	C	10: 128,048,121	E2140D	possibly damaging	Het
Nup214	G	T	2: 31,991,317	G396C	probably damaging	Het
Olfr1052	G	A	2: 86,298,196	V127I	possibly damaging	Het
Olfr259	T	A	2: 87,107,806	I194F	probably benign	Het
Olfr56	A	T	11: 49,134,624	Q144L	probably benign	Het
Olfr853	A	G	9: 19,537,277	Y218H	probably damaging	Het
Olfr983	A	T	9: 40,092,394	S187T	probably damaging	Het
P4htm	A	G	9: 108,579,293	V436A	probably benign	Het
Pfkm	A	G	15: 98,119,426	I117V	possibly damaging	Het
Phlpp1	T	G	1: 106,281,471	V518G	probably damaging	Het
Piwil4	G	A	9: 14,709,944	L598F	probably damaging	Het
Polr1b	T	G	2: 129,123,883	I815R	possibly damaging	Het
Ppef2	T	C	5: 92,234,291	N515S	probably damaging	Het
Prpsap2	G	T	11: 61,741,004		probably null	Het
Rab27a	A	G	9: 73,095,413	D208G	probably benign	Het
Ralgds	A	G	2: 28,552,090		probably null	Het
Raph1	C	A	1: 60,496,277	C540F	probably damaging	Het
Rbsn	A	G	6: 92,198,250	L281P	probably damaging	Het
Rmdn1	G	T	4: 19,588,533	G110*	probably null	Het
Rph3a	T	A	5: 120,954,449	E363V	possibly damaging	Het
Serpina16	G	T	12: 103,675,003	Y154*	probably null	Het
Sh2d3c	G	A	2: 32,744,802	E198K	possibly damaging	Het
Shank2	C	A	7: 144,259,105	Y663*	probably null	Het
Sharpin	T	C	15: 76,350,025		probably benign	Het
Slitrk1	G	A	14: 108,912,308	P324S	probably benign	Het
Sorbs2	T	A	8: 45,746,534		probably null	Het
Spag16	C	T	1: 69,923,804		probably benign	Het
Sycp2l	A	T	13: 41,129,771		probably null	Het
Synj1	A	T	16: 90,940,519		probably null	Het
Sytl1	T	C	4: 133,256,219		probably benign	Het
Tkfc	A	T	19: 10,592,659		probably null	Het
Tnn	T	C	1: 160,145,211	T274A	probably damaging	Het
Trav14-2	T	A	14: 53,641,048	W35R	probably damaging	Het
Trim72	T	C	7: 128,007,965	M222T	probably damaging	Het
Trim9	A	G	12: 70,346,708	V154A	probably damaging	Het
Ttc7b	T	C	12: 100,301,742	Y266C	probably damaging	Het
Uchl3	T	A	14: 101,666,546	I43K	possibly damaging	Het
Vdac1	T	A	11: 52,388,478	N269K	possibly damaging	Het
Wdr72	T	A	9: 74,145,976	W187R	probably damaging	Het
Zfp30	T	A	7: 29,793,066	C248*	probably null	Het
Zfp940	A	T	7: 29,850,956		probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het

Other mutations in Hsd17b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Hsd17b3	APN	13	64062905	missense	probably damaging	1.00
IGL02221:Hsd17b3	APN	13	64089051	missense	probably benign	0.01
IGL02257:Hsd17b3	APN	13	64059462	missense	probably benign	0.14
IGL02745:Hsd17b3	APN	13	64087176	missense	probably benign	0.01
IGL03189:Hsd17b3	APN	13	64063087	critical splice donor site	probably null
hermine	UTSW	13	64062906	missense	probably damaging	1.00
IGL02988:Hsd17b3	UTSW	13	64089100	missense	probably damaging	0.96
R0116:Hsd17b3	UTSW	13	64058589	missense	possibly damaging	0.87
R0659:Hsd17b3	UTSW	13	64073936	missense	possibly damaging	0.87
R0684:Hsd17b3	UTSW	13	64089068	missense	probably benign
R0834:Hsd17b3	UTSW	13	64089122	missense	probably benign	0.00
R3750:Hsd17b3	UTSW	13	64063179	splice site	probably null
R3845:Hsd17b3	UTSW	13	64089062	missense	possibly damaging	0.94
R3973:Hsd17b3	UTSW	13	64059486	missense	probably damaging	1.00
R4602:Hsd17b3	UTSW	13	64063170	critical splice acceptor site	probably null
R5470:Hsd17b3	UTSW	13	64073899	missense	probably damaging	1.00
R5897:Hsd17b3	UTSW	13	64088985	critical splice donor site	probably null
R5992:Hsd17b3	UTSW	13	64059470	splice site	probably null
R6898:Hsd17b3	UTSW	13	64059525	missense	probably benign	0.06
R7297:Hsd17b3	UTSW	13	64076351	missense	probably damaging	1.00
R7555:Hsd17b3	UTSW	13	64072002	missense	probably benign	0.17
R8743:Hsd17b3	UTSW	13	64062898	missense	probably benign	0.00
R8786:Hsd17b3	UTSW	13	64072048	missense	probably damaging	1.00
R8904:Hsd17b3	UTSW	13	64064380	missense	probably damaging	1.00
R8994:Hsd17b3	UTSW	13	64062881	missense	probably damaging	1.00
R9324:Hsd17b3	UTSW	13	64058645	missense	possibly damaging	0.49
Z1176:Hsd17b3	UTSW	13	64063138	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCAGAAATCTCAGCAGCAGGAG -3'
(R):5'- AGCCTGTACTCAGCTTCCAAG -3'

Sequencing Primer
(F):5'- TCTCAGCAGCAGGAGGGATTG -3'
(R):5'- GTGAGTGACAAGTTACCCAAGTCTC -3'

Posted On

2016-06-06