Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Hsd17b3'

412596

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

64058266-64089230 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 64063087 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039832] [ENSMUST00000166224] [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: 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: ENSMUST00000221513

Predicted Effect

probably null
Transcript: ENSMUST00000222783

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,823 (GRCm38)		probably benign	Het
Abcb1b	A	G	5: 8,845,814 (GRCm38)	T916A	probably benign	Het
Adam22	A	T	5: 8,111,897 (GRCm38)	Y50*	probably null	Het
Adprhl2	T	C	4: 126,317,294 (GRCm38)		probably benign	Het
Ahnak	G	A	19: 9,011,239 (GRCm38)	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,687,501 (GRCm38)	D125G	possibly damaging	Het
Bmp3	A	T	5: 98,872,720 (GRCm38)	Q334L	probably benign	Het
Camsap2	A	T	1: 136,281,662 (GRCm38)	D697E	probably damaging	Het
Car11	A	G	7: 45,702,455 (GRCm38)	T103A	probably damaging	Het
Cecr2	T	A	6: 120,762,430 (GRCm38)	S1373T	probably benign	Het
Cenpm	A	G	15: 82,234,433 (GRCm38)	V160A	possibly damaging	Het
Chl1	A	T	6: 103,683,207 (GRCm38)	I365F	possibly damaging	Het
Col20a1	C	T	2: 181,009,407 (GRCm38)	Q1089*	probably null	Het
Csf1r	A	T	18: 61,105,986 (GRCm38)	T13S	probably benign	Het
Fam13a	T	C	6: 58,956,858 (GRCm38)	E249G	probably damaging	Het
Fgd6	G	A	10: 94,044,456 (GRCm38)	V391I	probably benign	Het
Fhdc1	G	A	3: 84,455,061 (GRCm38)		probably benign	Het
Fn3krp	T	C	11: 121,429,630 (GRCm38)	I267T	probably damaging	Het
Fras1	A	T	5: 96,743,071 (GRCm38)	I2820F	probably benign	Het
Fyb2	A	G	4: 105,015,742 (GRCm38)	I771V	probably damaging	Het
Glis1	A	G	4: 107,615,051 (GRCm38)	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,913,428 (GRCm38)	T62A	possibly damaging	Het
Iqgap1	T	A	7: 80,713,842 (GRCm38)	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,625,164 (GRCm38)	D181G	probably damaging	Het
Lrp2	T	C	2: 69,438,478 (GRCm38)		probably benign	Het
Mark1	T	C	1: 184,919,693 (GRCm38)	N95S	probably damaging	Het
Mbd5	A	G	2: 49,257,751 (GRCm38)	K658E	probably damaging	Het
Mcm6	C	T	1: 128,344,302 (GRCm38)	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,641,855 (GRCm38)	D187G	probably benign	Het
Mrpl19	G	T	6: 81,961,993 (GRCm38)	S276*	probably null	Het
Ncoa2	G	A	1: 13,190,136 (GRCm38)	T105M	probably damaging	Het
Nop14	A	G	5: 34,650,628 (GRCm38)		probably benign	Het
Olfr1018	A	G	2: 85,823,558 (GRCm38)	T196A	probably benign	Het
Olfr1152	G	A	2: 87,868,215 (GRCm38)	A75T	possibly damaging	Het
Olfr170	T	C	16: 19,606,591 (GRCm38)	T26A	probably benign	Het
Otud7b	G	A	3: 96,155,478 (GRCm38)	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,336,152 (GRCm38)	V25M	probably damaging	Het
Prpf39	G	T	12: 65,043,302 (GRCm38)	G5*	probably null	Het
Serpinb9d	T	C	13: 33,202,912 (GRCm38)	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,468,530 (GRCm38)	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452 (GRCm38)	I55T	probably benign	Het
Spata13	T	C	14: 60,691,614 (GRCm38)	I207T	possibly damaging	Het
Suco	T	C	1: 161,857,337 (GRCm38)		probably benign	Het
Svs2	A	G	2: 164,237,112 (GRCm38)	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,285,386 (GRCm38)	I313V	probably benign	Het
Tmem45a	A	T	16: 56,811,573 (GRCm38)	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,730,052 (GRCm38)		probably benign	Het
Ttc26	C	T	6: 38,425,231 (GRCm38)	P553S	probably benign	Het
Vmn2r4	C	A	3: 64,389,168 (GRCm38)	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,760,601 (GRCm38)	T602I	probably benign	Het

Other mutations in Hsd17b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Hsd17b3	APN	13	64,062,905 (GRCm38)	missense	probably damaging	1.00
IGL02221:Hsd17b3	APN	13	64,089,051 (GRCm38)	missense	probably benign	0.01
IGL02257:Hsd17b3	APN	13	64,059,462 (GRCm38)	missense	probably benign	0.14
IGL02745:Hsd17b3	APN	13	64,087,176 (GRCm38)	missense	probably benign	0.01
hermine	UTSW	13	64,062,906 (GRCm38)	missense	probably damaging	1.00
IGL02988:Hsd17b3	UTSW	13	64,089,100 (GRCm38)	missense	probably damaging	0.96
R0116:Hsd17b3	UTSW	13	64,058,589 (GRCm38)	missense	possibly damaging	0.87
R0659:Hsd17b3	UTSW	13	64,073,936 (GRCm38)	missense	possibly damaging	0.87
R0684:Hsd17b3	UTSW	13	64,089,068 (GRCm38)	missense	probably benign
R0834:Hsd17b3	UTSW	13	64,089,122 (GRCm38)	missense	probably benign	0.00
R3750:Hsd17b3	UTSW	13	64,063,179 (GRCm38)	splice site	probably null
R3845:Hsd17b3	UTSW	13	64,089,062 (GRCm38)	missense	possibly damaging	0.94
R3973:Hsd17b3	UTSW	13	64,059,486 (GRCm38)	missense	probably damaging	1.00
R4602:Hsd17b3	UTSW	13	64,063,170 (GRCm38)	critical splice acceptor site	probably null
R5027:Hsd17b3	UTSW	13	64,062,906 (GRCm38)	missense	probably damaging	1.00
R5470:Hsd17b3	UTSW	13	64,073,899 (GRCm38)	missense	probably damaging	1.00
R5897:Hsd17b3	UTSW	13	64,088,985 (GRCm38)	critical splice donor site	probably null
R5992:Hsd17b3	UTSW	13	64,059,470 (GRCm38)	splice site	probably null
R6898:Hsd17b3	UTSW	13	64,059,525 (GRCm38)	missense	probably benign	0.06
R7297:Hsd17b3	UTSW	13	64,076,351 (GRCm38)	missense	probably damaging	1.00
R7555:Hsd17b3	UTSW	13	64,072,002 (GRCm38)	missense	probably benign	0.17
R8743:Hsd17b3	UTSW	13	64,062,898 (GRCm38)	missense	probably benign	0.00
R8786:Hsd17b3	UTSW	13	64,072,048 (GRCm38)	missense	probably damaging	1.00
R8904:Hsd17b3	UTSW	13	64,064,380 (GRCm38)	missense	probably damaging	1.00
R8994:Hsd17b3	UTSW	13	64,062,881 (GRCm38)	missense	probably damaging	1.00
R9324:Hsd17b3	UTSW	13	64,058,645 (GRCm38)	missense	possibly damaging	0.49
R9649:Hsd17b3	UTSW	13	64,064,357 (GRCm38)	missense	probably damaging	1.00
Z1176:Hsd17b3	UTSW	13	64,063,138 (GRCm38)	missense	possibly damaging	0.92

Posted On

2016-08-02