Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02257:Hsd17b3'

286630

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 #

IGL02257

Quality Score

Status

Chromosome

Chromosomal Location

64058266-64089230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64059462 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 255 (T255M)

Ref Sequence

ENSEMBL: ENSMUSP00000152848 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039832
AA Change: T255M

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: T255M

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: T255M

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: T255M

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: T72M

Predicted Effect

probably benign
Transcript: ENSMUST00000222783
AA Change: T255M

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000222810

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	C	T	11: 116,595,709	Q25*	probably null	Het
Adam8	A	T	7: 139,987,648	V394D	possibly damaging	Het
Ahnak2	A	G	12: 112,785,285	F314S	possibly damaging	Het
Arsg	T	C	11: 109,521,647		probably benign	Het
Atp13a2	T	G	4: 141,006,089	V958G	probably benign	Het
BC003331	A	T	1: 150,386,404	I95N	probably damaging	Het
Ces5a	T	C	8: 93,525,598	D218G	probably benign	Het
Cntnap4	T	A	8: 112,616,494	L63Q	probably damaging	Het
Cped1	A	G	6: 22,145,607	T655A	possibly damaging	Het
Ddc	A	T	11: 11,873,171	L133*	probably null	Het
Fat4	C	T	3: 39,001,139	A4169V	probably benign	Het
Gnpat	T	C	8: 124,886,848		probably benign	Het
Gpd2	A	G	2: 57,364,524	D678G	probably benign	Het
Hk1	T	C	10: 62,271,643	D851G	probably benign	Het
Hsd11b2	G	A	8: 105,523,222	V322I	probably benign	Het
Hsp90b1	T	C	10: 86,698,589	S284G	probably damaging	Het
Med1	T	A	11: 98,180,270	I69L	probably damaging	Het
Morn3	T	G	5: 123,037,725	D200A	probably damaging	Het
Mtss1	A	G	15: 58,956,545	V173A	probably damaging	Het
Mut	C	T	17: 40,938,734	T200I	possibly damaging	Het
Myl6b	T	C	10: 128,497,341		probably benign	Het
Nin	A	G	12: 70,102,691	V48A	possibly damaging	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1490	G	A	19: 13,655,265	V279I	probably benign	Het
Phlpp2	T	A	8: 109,920,099	V529E	possibly damaging	Het
Pnlip	G	A	19: 58,673,874	V151I	probably benign	Het
Pus7	A	C	5: 23,762,461	H247Q	probably damaging	Het
Setd6	T	C	8: 95,716,692	Y188H	probably damaging	Het
Siglecg	T	C	7: 43,411,904	S444P	probably benign	Het
Sox9	C	A	11: 112,784,985	H333Q	possibly damaging	Het
Specc1	T	A	11: 62,118,417	I333N	probably damaging	Het
Tmprss11e	G	A	5: 86,724,180	T59I	probably damaging	Het
Vmn2r93	A	C	17: 18,325,508		probably benign	Het
Vrk2	A	T	11: 26,534,266	V163D	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
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
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