Mutagenetix > Incidental Mutations

Incidental Mutation 'R0659:Hsd17b3'

61800

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

038844-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0659 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

64058266-64089230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64073936 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 92 (T92A)

Ref Sequence

ENSEMBL: ENSMUSP00000152274 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039832
AA Change: T92A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: T92A

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

possibly damaging
Transcript: ENSMUST00000166224
AA Change: T92A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: T92A

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

possibly damaging
Transcript: ENSMUST00000222783
AA Change: T92A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222810
AA Change: T92A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.0965

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,007,493		probably benign	Het
Ahnak	A	G	19: 9,015,002	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,983,347	V591A	probably damaging	Het
Apol7c	A	G	15: 77,526,273	S158P	probably damaging	Het
Asxl1	T	A	2: 153,400,724	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,345,106		probably benign	Het
Cd109	T	C	9: 78,680,170		probably benign	Het
Cep78	C	T	19: 15,956,190	V675M	probably damaging	Het
Ces4a	T	C	8: 105,144,922		probably benign	Het
Chpf	A	G	1: 75,477,723	V137A	probably damaging	Het
Comp	T	C	8: 70,379,101	S457P	possibly damaging	Het
Cth	A	G	3: 157,920,115		probably benign	Het
Cyp2a12	T	C	7: 27,034,138	L314P	probably damaging	Het
Ets1	C	T	9: 32,738,293	R309C	probably damaging	Het
Fam208b	T	C	13: 3,574,448	D1834G	probably damaging	Het
Foxp2	T	C	6: 15,254,279		probably benign	Het
Gm9875	T	G	2: 13,558,184	F108V	unknown	Het
Golga5	G	T	12: 102,476,208	V269F	possibly damaging	Het
Greb1	T	C	12: 16,680,212	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,992,472	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,196,024	V70E	probably damaging	Het
Hdac9	T	C	12: 34,437,222	Q60R	probably damaging	Het
Itpk1	C	T	12: 102,606,078		probably benign	Het
Lin28a	T	C	4: 134,008,099		probably benign	Het
Mapk6	T	C	9: 75,397,962	S58G	probably damaging	Het
Mmp21	G	A	7: 133,677,667		probably benign	Het
Mroh2a	G	A	1: 88,250,342	D1053N	probably damaging	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Msh3	T	C	13: 92,345,096	N303D	possibly damaging	Het
Mto1	T	A	9: 78,457,508	I343N	probably damaging	Het
Mto1	C	T	9: 78,470,790	T638M	probably damaging	Het
Myo18b	T	C	5: 112,760,327	K2027E	possibly damaging	Het
Myo7a	T	C	7: 98,054,338		probably benign	Het
Nlrp9a	T	C	7: 26,557,278	I107T	probably damaging	Het
Olfr181	C	A	16: 58,926,409	R54L	possibly damaging	Het
Olfr970	T	G	9: 39,819,816	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,705,030	S268P	probably damaging	Het
Pih1d1	T	A	7: 45,159,975	S289T	probably benign	Het
Pik3c2b	A	G	1: 133,071,200	D353G	probably damaging	Het
Ppef2	A	G	5: 92,230,509	L609P	probably damaging	Het
Prune2	A	T	19: 17,122,835	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,776,575	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,883,871	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,680,689	K582E	probably benign	Het
Sult1c2	A	T	17: 53,831,778	M257K	probably damaging	Het
Tmem132d	A	G	5: 127,984,287	I417T	possibly damaging	Het
Tmem229b	T	C	12: 78,965,134	T8A	probably benign	Het
Tmem237	T	C	1: 59,114,094	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,319,819	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,923,446		probably benign	Het
Trio	A	G	15: 27,831,399	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,955,914		probably benign	Het
Vps13c	T	A	9: 67,920,935	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,073,801	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,875,539	C395S	probably damaging	Het
Zfp740	A	G	15: 102,212,659	T136A	possibly damaging	Het
Zfp82	C	T	7: 30,056,329	E443K	probably damaging	Het
Zranb2	A	G	3: 157,541,763	S193G	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGACAGTGTGCCCTGC -3'
(R):5'- TGGGGAACACAATCCCAACTCTTTCTAA -3'

Sequencing Primer
(F):5'- agtgtgagtgtgagtgtgag -3'
(R):5'- tgaagatgccagaagatgcc -3'

Posted On

2013-07-30