Mutagenetix > Incidental Mutation

Incidental Mutation 'R9324:Hsd17b3'

706408

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64206080-64237044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64206459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 281 (F281S)

Ref Sequence

ENSEMBL: ENSMUSP00000044217 (fasta)

Gene Model

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

AlphaFold

P70385

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039832
AA Change: F281S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: F281S

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: F281S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: F281S

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: F281S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000222810

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,179,856 (GRCm39)	H358R	probably benign	Het
Arid3c	A	G	4: 41,730,138 (GRCm39)	L19S	possibly damaging	Het
Arpp21	T	A	9: 111,986,765 (GRCm39)	D262V	probably damaging	Het
Atp4a	A	C	7: 30,415,207 (GRCm39)	I276L	probably benign	Het
Axl	C	G	7: 25,460,982 (GRCm39)	E676Q	probably damaging	Het
Ces1g	T	C	8: 94,055,118 (GRCm39)	D193G	probably damaging	Het
Crym	A	G	7: 119,789,005 (GRCm39)	V274A	probably damaging	Het
Efcab5	T	A	11: 77,004,546 (GRCm39)	H924L	possibly damaging	Het
Eif1ad7	T	A	12: 88,238,709 (GRCm39)	N17I	unknown	Het
Eif3l	T	A	15: 78,978,423 (GRCm39)	M560K	probably benign	Het
Fam234b	C	A	6: 135,202,793 (GRCm39)	Y382*	probably null	Het
Fbxw19	T	C	9: 109,313,440 (GRCm39)	K253E	possibly damaging	Het
Fhip1a	T	C	3: 85,638,053 (GRCm39)	D82G	probably benign	Het
Flt3	A	G	5: 147,313,790 (GRCm39)	S87P	probably benign	Het
Garin3	A	T	11: 46,295,810 (GRCm39)	I61F		Het
Ggnbp2	A	G	11: 84,725,174 (GRCm39)	L627S	probably damaging	Het
Gm26661	T	G	14: 7,791,765 (GRCm38)	V60G	unknown	Het
Golt1a	T	C	1: 133,247,094 (GRCm39)	L34P	probably damaging	Het
Gp5	T	C	16: 30,127,808 (GRCm39)	M289V	possibly damaging	Het
Gpr63	C	G	4: 25,008,432 (GRCm39)	H385Q	possibly damaging	Het
Hcn1	G	A	13: 118,111,901 (GRCm39)	V622I	unknown	Het
Hipk4	A	G	7: 27,228,834 (GRCm39)	D428G	probably damaging	Het
Hs3st1	T	C	5: 39,772,145 (GRCm39)	Y166C	probably damaging	Het
Ifih1	T	C	2: 62,475,950 (GRCm39)	T109A	probably benign	Het
Ighv1-64	T	A	12: 115,471,645 (GRCm39)		probably benign	Het
Ina	T	C	19: 47,003,816 (GRCm39)	L208P		Het
Iqcn	C	T	8: 71,161,794 (GRCm39)	T329I	possibly damaging	Het
Irak2	T	C	6: 113,615,604 (GRCm39)		probably null	Het
Klhl10	G	A	11: 100,338,481 (GRCm39)	E407K	probably benign	Het
Krt81	A	G	15: 101,361,335 (GRCm39)	S82P	probably damaging	Het
Ktn1	C	A	14: 47,948,353 (GRCm39)	Q963K	probably benign	Het
Lgalsl2	G	A	7: 5,362,527 (GRCm39)	V53I	possibly damaging	Het
Lrrc42	A	T	4: 107,104,913 (GRCm39)	Y17*	probably null	Het
Lrrc9	A	C	12: 72,496,171 (GRCm39)	E15D	probably damaging	Het
Mak	G	A	13: 41,202,839 (GRCm39)	T203I	probably benign	Het
Masp2	T	C	4: 148,692,485 (GRCm39)	V326A	possibly damaging	Het
Mdc1	T	C	17: 36,164,258 (GRCm39)	S1269P	probably benign	Het
Mink1	G	A	11: 70,502,477 (GRCm39)	V1027M	probably damaging	Het
Mrps10	C	A	17: 47,686,903 (GRCm39)	S123*	probably null	Het
Myl10	C	T	5: 136,729,787 (GRCm39)	H142Y	probably damaging	Het
Ncan	T	C	8: 70,560,648 (GRCm39)	Q773R	possibly damaging	Het
Nlrp3	T	A	11: 59,434,141 (GRCm39)	M68K	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Odad3	T	C	9: 21,903,207 (GRCm39)	E402G	probably damaging	Het
Or4p22	C	T	2: 88,317,787 (GRCm39)	T237I	probably damaging	Het
Or5an1	A	G	19: 12,260,939 (GRCm39)	R176G	probably benign	Het
Or8c8	A	G	9: 38,164,962 (GRCm39)	K80R	probably benign	Het
Phldb2	A	G	16: 45,595,437 (GRCm39)	V830A	probably damaging	Het
Phospho2	T	C	2: 69,625,913 (GRCm39)	V23A	probably damaging	Het
Plxnc1	G	A	10: 94,780,685 (GRCm39)		probably benign	Het
Ppcdc	T	C	9: 57,342,280 (GRCm39)	E14G	probably benign	Het
Ralgapa2	T	C	2: 146,302,645 (GRCm39)	Y106C	probably damaging	Het
Rgs22	T	C	15: 36,087,544 (GRCm39)	Q582R	probably benign	Het
Rngtt	T	A	4: 33,320,613 (GRCm39)	Y53*	probably null	Het
Slc12a3	T	G	8: 95,083,028 (GRCm39)		probably null	Het
Slc26a11	A	G	11: 119,267,730 (GRCm39)	T456A	probably benign	Het
Slc26a5	G	T	5: 22,018,334 (GRCm39)	A677E	possibly damaging	Het
Smurf1	T	C	5: 144,817,463 (GRCm39)	T690A	probably benign	Het
Spata24	A	T	18: 35,790,064 (GRCm39)	N142K	probably damaging	Het
Ubqlnl	A	T	7: 103,798,962 (GRCm39)	N178K	possibly damaging	Het
Uggt2	A	G	14: 119,312,741 (GRCm39)		probably null	Het
Vmn1r2	C	A	4: 3,172,678 (GRCm39)	A199D	probably damaging	Het
Vmn2r39	T	C	7: 9,030,684 (GRCm39)	N128S	probably damaging	Het
Vmn2r61	G	T	7: 41,916,619 (GRCm39)	V411F	probably benign	Het
Vmn2r-ps117	T	A	17: 19,042,911 (GRCm39)	F106L	probably benign	Het
Zfp503	A	T	14: 22,035,353 (GRCm39)	I521N	possibly damaging	Het
Zfp831	T	C	2: 174,547,113 (GRCm39)	V1432A	probably benign	Het
Zfp981	T	A	4: 146,619,884 (GRCm39)	L13I	possibly damaging	Het

Other mutations in Hsd17b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Hsd17b3	APN	13	64,210,719 (GRCm39)	missense	probably damaging	1.00
IGL02221:Hsd17b3	APN	13	64,236,865 (GRCm39)	missense	probably benign	0.01
IGL02257:Hsd17b3	APN	13	64,207,276 (GRCm39)	missense	probably benign	0.14
IGL02745:Hsd17b3	APN	13	64,234,990 (GRCm39)	missense	probably benign	0.01
IGL03189:Hsd17b3	APN	13	64,210,901 (GRCm39)	critical splice donor site	probably null
hermine	UTSW	13	64,210,720 (GRCm39)	missense	probably damaging	1.00
IGL02988:Hsd17b3	UTSW	13	64,236,914 (GRCm39)	missense	probably damaging	0.96
R0116:Hsd17b3	UTSW	13	64,206,403 (GRCm39)	missense	possibly damaging	0.87
R0659:Hsd17b3	UTSW	13	64,221,750 (GRCm39)	missense	possibly damaging	0.87
R0684:Hsd17b3	UTSW	13	64,236,882 (GRCm39)	missense	probably benign
R0834:Hsd17b3	UTSW	13	64,236,936 (GRCm39)	missense	probably benign	0.00
R3750:Hsd17b3	UTSW	13	64,210,993 (GRCm39)	splice site	probably null
R3845:Hsd17b3	UTSW	13	64,236,876 (GRCm39)	missense	possibly damaging	0.94
R3973:Hsd17b3	UTSW	13	64,207,300 (GRCm39)	missense	probably damaging	1.00
R4602:Hsd17b3	UTSW	13	64,210,984 (GRCm39)	critical splice acceptor site	probably null
R5027:Hsd17b3	UTSW	13	64,210,720 (GRCm39)	missense	probably damaging	1.00
R5470:Hsd17b3	UTSW	13	64,221,713 (GRCm39)	missense	probably damaging	1.00
R5897:Hsd17b3	UTSW	13	64,236,799 (GRCm39)	critical splice donor site	probably null
R5992:Hsd17b3	UTSW	13	64,207,284 (GRCm39)	splice site	probably null
R6898:Hsd17b3	UTSW	13	64,207,339 (GRCm39)	missense	probably benign	0.06
R7297:Hsd17b3	UTSW	13	64,224,165 (GRCm39)	missense	probably damaging	1.00
R7555:Hsd17b3	UTSW	13	64,219,816 (GRCm39)	missense	probably benign	0.17
R8743:Hsd17b3	UTSW	13	64,210,712 (GRCm39)	missense	probably benign	0.00
R8786:Hsd17b3	UTSW	13	64,219,862 (GRCm39)	missense	probably damaging	1.00
R8904:Hsd17b3	UTSW	13	64,212,194 (GRCm39)	missense	probably damaging	1.00
R8994:Hsd17b3	UTSW	13	64,210,695 (GRCm39)	missense	probably damaging	1.00
R9649:Hsd17b3	UTSW	13	64,212,171 (GRCm39)	missense	probably damaging	1.00
Z1176:Hsd17b3	UTSW	13	64,210,952 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGGCCACTACTACCAATGAAG -3'
(R):5'- TGGGCCTCTAAGAAGTTCACC -3'

Sequencing Primer
(F):5'- CTACCAATGAAGAGCTCTGGATGTC -3'
(R):5'- TCACCTTTGTAAAATATCACAAGACC -3'

Posted On

2022-04-18