Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02221:Hsd17b3'

285140

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 #

IGL02221

Quality Score

Status

Chromosome

Chromosomal Location

64058266-64089230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64089051 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 26 (H26Q)

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: H26Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: H26Q

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: H26Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: H26Q

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: H26Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000222810
AA Change: H26Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,356,948	I24M	probably benign	Het
Ano5	G	A	7: 51,570,323	D390N	probably damaging	Het
Atp2c2	A	G	8: 119,744,334	Y407C	probably damaging	Het
B430306N03Rik	T	C	17: 48,324,195		probably benign	Het
BC052040	T	C	2: 115,639,066		probably null	Het
Cd44	A	T	2: 102,846,513	M269K	probably benign	Het
Cpped1	G	T	16: 11,828,528	P144Q	probably damaging	Het
Epas1	C	T	17: 86,827,847	T636M	possibly damaging	Het
Ighv8-9	A	G	12: 115,468,327		probably benign	Het
Itih1	A	T	14: 30,929,587	C883S	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Lcn3	A	T	2: 25,766,160	M76L	probably benign	Het
Lin9	A	T	1: 180,650,834	M53L	probably benign	Het
Mast1	A	G	8: 84,918,755	V687A	possibly damaging	Het
Mmd2	C	T	5: 142,569,457		probably benign	Het
Mroh2b	T	C	15: 4,923,641	L619S	probably damaging	Het
Ngef	T	C	1: 87,540,696	T114A	probably benign	Het
Nlrp12	T	C	7: 3,240,967	D305G	possibly damaging	Het
Nlrp1a	A	T	11: 71,123,118	F435L	possibly damaging	Het
Nup188	A	G	2: 30,330,641	I909V	possibly damaging	Het
Osbpl3	A	C	6: 50,327,367		probably benign	Het
P2ry2	G	T	7: 100,998,114	P328H	possibly damaging	Het
Prex2	A	T	1: 11,061,345	N46I	probably benign	Het
Prss42	T	C	9: 110,803,175	F325L	possibly damaging	Het
Reep5	A	G	18: 34,349,797	F120L	probably damaging	Het
Scg3	G	T	9: 75,683,657	F23L	probably damaging	Het
Scx	A	G	15: 76,459,095	D200G	probably benign	Het
Setd5	C	T	6: 113,121,170		probably benign	Het
Tcf4	T	A	18: 69,347,367	S23R	probably damaging	Het
Ttc4	A	G	4: 106,676,596		probably null	Het
Tyro3	T	A	2: 119,812,590	C627S	probably benign	Het
Yipf2	T	C	9: 21,591,468	N106S	possibly damaging	Het
Zfp619	T	C	7: 39,536,910	L788P	probably benign	Het
Zfp831	G	A	2: 174,643,726	V65I	probably benign	Het
Zgpat	T	C	2: 181,378,858	S275P	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
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
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