Mutagenetix > Incidental Mutation

Incidental Mutation 'R4602:Hsd17b3'

345740

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b3

Ensembl Gene

ENSMUSG00000033122

Gene Name

hydroxysteroid (17-beta) dehydrogenase 3

Synonyms

17(beta)HSD type 3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64058266-64089230 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to A at 64063170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152848 (fasta)

Gene Model

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

AlphaFold

P70385

Predicted Effect

probably null
Transcript: ENSMUST00000039832

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122

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 null
Transcript: ENSMUST00000039832

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122

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 null
Transcript: ENSMUST00000166224

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122

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 null
Transcript: ENSMUST00000166224

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122

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: ENSMUST00000221513

Predicted Effect

probably null
Transcript: ENSMUST00000222783

Predicted Effect

probably null
Transcript: ENSMUST00000222783

Predicted Effect

probably benign
Transcript: ENSMUST00000222810

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468	I69N	probably damaging	Het
Ahnak	A	G	19: 9,010,825	K3158E	possibly damaging	Het
Ak7	G	A	12: 105,713,575	V123M	probably benign	Het
Ankmy1	A	T	1: 92,888,650	N247K	probably benign	Het
Atp1a1	A	G	3: 101,586,943	V447A	probably benign	Het
Atp1a4	A	C	1: 172,239,765	M600R	probably damaging	Het
Baat	A	G	4: 49,502,727	Y132H	probably damaging	Het
Ceacam15	A	G	7: 16,671,981	V215A	probably damaging	Het
Celf2	G	T	2: 6,586,020	N279K	possibly damaging	Het
Clec14a	C	T	12: 58,267,981	R285H	probably benign	Het
Ctnna1	T	G	18: 35,179,827	I244R	possibly damaging	Het
D230025D16Rik	C	A	8: 105,246,888	N282K	possibly damaging	Het
Dcxr	T	A	11: 120,726,304	N105Y	possibly damaging	Het
Dnajc6	T	C	4: 101,611,264	F166L	probably damaging	Het
Ercc3	G	A	18: 32,245,571	A202T	probably benign	Het
Faf1	A	G	4: 109,727,428	D67G	probably benign	Het
Fancm	G	A	12: 65,124,944	R1786H	probably benign	Het
Fnbp1	A	G	2: 31,036,540		probably null	Het
Frem2	A	G	3: 53,547,807	L2116S	possibly damaging	Het
Gbp5	A	G	3: 142,503,785	E164G	probably benign	Het
Gm4922	A	T	10: 18,784,259	Y238*	probably null	Het
Gm8257	A	G	14: 44,656,317	Y62H	probably damaging	Het
Grin2b	A	G	6: 135,778,741	F525S	probably damaging	Het
Hfe2	T	G	3: 96,527,553	S203A	probably benign	Het
Ighv1-23	T	A	12: 114,764,559	Q81L	probably benign	Het
Inpp4b	T	C	8: 81,969,535	V366A	probably damaging	Het
Jak1	G	T	4: 101,179,594	A283D	possibly damaging	Het
Kmt2d	G	T	15: 98,850,259		probably benign	Het
Mbtps1	A	T	8: 119,535,347	D354E	probably damaging	Het
Mettl17	T	C	14: 51,888,789	V218A	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Nfat5	C	T	8: 107,367,223	Q699*	probably null	Het
Olfr1193	G	A	2: 88,677,896	V14I	probably benign	Het
Olfr1193	T	G	2: 88,678,179	V101G	probably benign	Het
Olfr868	C	A	9: 20,101,244	H162N	probably benign	Het
Osbpl7	C	A	11: 97,056,269	S265R	possibly damaging	Het
Pcdh15	A	G	10: 74,594,214	T1258A	probably damaging	Het
Pcdh20	A	T	14: 88,468,430	L478Q	probably damaging	Het
Pde11a	A	G	2: 76,158,333	V488A	probably benign	Het
Phactr1	A	T	13: 43,094,965	E463D	probably benign	Het
Samd9l	A	T	6: 3,373,935	Y1109N	probably damaging	Het
Samd9l	GAA	GAAA	6: 3,373,937		probably null	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,949,153	D66E	probably benign	Het
Sgk2	G	A	2: 162,994,754		probably null	Het
Slco1a6	C	A	6: 142,101,652	C404F	probably benign	Het
Spaca6	C	T	17: 17,831,125	A21V	probably damaging	Het
Sphkap	G	T	1: 83,279,061	Y322*	probably null	Het
Sptlc3	G	A	2: 139,636,680	V520I	probably benign	Het
Stox2	A	G	8: 47,192,935	S497P	probably damaging	Het
Syt9	A	T	7: 107,436,387	K204*	probably null	Het
Taf3	A	G	2: 9,952,657	V233A	probably damaging	Het
Tbccd1	T	C	16: 22,818,535		probably null	Het
Tdrd5	T	A	1: 156,284,374	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946	D671G	probably benign	Het
Tgtp2	T	C	11: 49,058,984	T254A	probably damaging	Het
Tmtc2	T	C	10: 105,413,530	Y114C	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ubac1	A	T	2: 25,998,977	I402N	probably damaging	Het
Zmat1	A	T	X: 134,972,945	S566T	probably damaging	Homo

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
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	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
R9649:Hsd17b3	UTSW	13	64064357	missense	probably damaging	1.00
Z1176:Hsd17b3	UTSW	13	64063138	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CACAAAAGCCTGCAGTGAG -3'
(R):5'- TTTACGCCGCAAGACTACAG -3'

Sequencing Primer
(F):5'- AAACACTCAGGGTCCTGGAGC -3'
(R):5'- GCCGCAAGACTACAGAGTGAC -3'

Posted On

2015-09-25