Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02745:Hsd17b3'

306112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd17b3

Ensembl Gene

ENSMUSG00000033122

Gene Name

hydroxysteroid (17-beta) dehydrogenase 3

Synonyms

17(beta)HSD type 3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02745

Quality Score

Status

Chromosome

Chromosomal Location

64058266-64089230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64087176 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 62 (F62L)

Ref Sequence

ENSEMBL: ENSMUSP00000152274 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039832
AA Change: F62L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: F62L

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 benign
Transcript: ENSMUST00000166224
AA Change: F62L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: F62L

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

probably benign
Transcript: ENSMUST00000222783
AA Change: F62L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000222810
AA Change: F62L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,228,081	E167G	probably benign	Het
Aldh1a1	A	G	19: 20,636,664		probably benign	Het
Ankrd44	T	C	1: 54,766,791	H152R	probably damaging	Het
Bpifb4	T	A	2: 153,947,221	L316Q	probably damaging	Het
C2cd5	A	T	6: 143,041,530	L155I	probably benign	Het
Chrdl2	T	A	7: 100,020,963	C98S	probably damaging	Het
Clnk	A	G	5: 38,736,319	S232P	probably benign	Het
Csf3	A	G	11: 98,702,477	D140G	probably damaging	Het
Dnah7b	T	A	1: 46,195,029		probably benign	Het
Fam129c	G	T	8: 71,605,038		probably null	Het
Fam208b	A	T	13: 3,585,140	S556T	probably benign	Het
Fetub	T	C	16: 22,937,926	V259A	probably damaging	Het
Gga2	G	T	7: 122,008,369	R108S	probably damaging	Het
Hip1r	C	A	5: 123,990,939		probably null	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Man1a	C	T	10: 53,977,110	R304Q	probably damaging	Het
Med17	A	G	9: 15,265,346		probably benign	Het
Mrgprb4	T	C	7: 48,198,358	Y274C	probably damaging	Het
Myh8	C	T	11: 67,297,501	T996I	possibly damaging	Het
Nlrp4e	T	A	7: 23,321,291	L401Q	probably damaging	Het
Oas1h	G	A	5: 120,861,479	R9Q	probably benign	Het
Olfr1216	A	G	2: 89,013,888	Y59H	probably damaging	Het
Olfr1424	C	T	19: 12,059,201	V184I	probably benign	Het
Olfr919	T	C	9: 38,698,198	H56R	probably damaging	Het
Otor	A	G	2: 143,081,156	D122G	possibly damaging	Het
Pcdh18	T	A	3: 49,755,891	Q325L	probably damaging	Het
Ppfibp1	T	C	6: 147,022,354		probably benign	Het
Pramef25	A	T	4: 143,950,724	L95Q	probably damaging	Het
Prlr	T	A	15: 10,328,594	I385N	possibly damaging	Het
Rap1gds1	A	G	3: 138,956,241	V418A	probably damaging	Het
Rdh1	A	T	10: 127,765,419	T279S	probably benign	Het
Slc17a3	C	A	13: 23,842,486	Q13K	probably benign	Het
Slc22a20	T	C	19: 5,972,873	N414S	probably damaging	Het
Slc4a1	C	A	11: 102,356,267	C498F	probably damaging	Het
Sp8	G	A	12: 118,849,591	G394S	probably damaging	Het
Ssh2	C	T	11: 77,455,407	T1406I	probably damaging	Het
Stra6	T	A	9: 58,152,038	D561E	probably damaging	Het
Stxbp5l	G	A	16: 37,186,654	Q726*	probably null	Het
Synpo2	G	A	3: 123,113,612	T685I	probably damaging	Het
Ttc27	A	G	17: 74,739,733	D263G	probably benign	Het
Ttn	G	A	2: 76,763,988	P18793S	possibly damaging	Het
Vmn2r109	A	G	17: 20,541,250	V615A	probably damaging	Het
Vmn2r76	T	G	7: 86,230,287	K268N	probably benign	Het
Zeb2	A	G	2: 44,994,475		probably benign	Het
Zfp286	C	A	11: 62,780,874	K124N	probably damaging	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
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
R5027:Hsd17b3	UTSW	13	64062906	missense	probably damaging	1.00
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	unclassified	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
Z1176:Hsd17b3	UTSW	13	64063138	missense	possibly damaging	0.92

Posted On

2015-04-16