Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:Hsd17b3'

312956

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

040841-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64206080-64237044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64207300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 247 (V247D)

Ref Sequence

ENSEMBL: ENSMUSP00000152848 (fasta)

Gene Model

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

AlphaFold

P70385

Predicted Effect

probably damaging
Transcript: ENSMUST00000039832
AA Change: V247D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: V247D

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 damaging
Transcript: ENSMUST00000166224
AA Change: V247D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: V247D

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

unknown
Transcript: ENSMUST00000221513
AA Change: V64D

Predicted Effect

probably damaging
Transcript: ENSMUST00000222783
AA Change: V247D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000222810

Meta Mutation Damage Score

0.8335

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

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
2510039O18Rik	T	C	4: 148,029,488 (GRCm39)	I486T	probably damaging	Het
4933427D14Rik	T	C	11: 72,089,567 (GRCm39)	R106G	probably damaging	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Copa	T	A	1: 171,948,812 (GRCm39)	S1155T	probably benign	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170 (GRCm39)	A232V	probably damaging	Het
Dst	T	G	1: 34,050,979 (GRCm39)	V25G	probably benign	Het
Ehbp1	C	T	11: 22,087,867 (GRCm39)	A406T	probably benign	Het
Eml5	A	T	12: 98,768,724 (GRCm39)		probably benign	Het
Eps8	A	T	6: 137,486,153 (GRCm39)	M453K	probably benign	Het
Galnt3	T	C	2: 65,937,374 (GRCm39)	D112G	possibly damaging	Het
Glra4	C	T	X: 135,663,542 (GRCm39)	A336T	probably damaging	Het
Gmppb	A	G	9: 107,927,338 (GRCm39)	D95G	probably benign	Het
Gprc6a	T	C	10: 51,504,544 (GRCm39)	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Htr7	T	C	19: 36,034,160 (GRCm39)	D165G	probably damaging	Het
Igha	T	C	12: 113,219,972 (GRCm39)		probably benign	Het
Igsf10	A	G	3: 59,239,345 (GRCm39)	C279R	probably damaging	Het
Irak4	A	G	15: 94,452,621 (GRCm39)	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,535,723 (GRCm39)	V274E	probably damaging	Het
Lrpprc	A	C	17: 85,078,269 (GRCm39)		probably null	Het
Mast1	T	C	8: 85,645,393 (GRCm39)	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363 (GRCm39)	F2382L	probably benign	Het
Mepe	C	T	5: 104,484,944 (GRCm39)	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,239,414 (GRCm39)	I171F	probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Myh3	C	T	11: 66,987,262 (GRCm39)	Q1371*	probably null	Het
Nodal	T	A	10: 61,258,833 (GRCm39)	V90E	probably benign	Het
Npas4	A	T	19: 5,036,579 (GRCm39)	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,660,100 (GRCm39)	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,709,035 (GRCm39)	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,513,665 (GRCm39)	D947G	probably damaging	Het
Phf8-ps	A	T	17: 33,285,405 (GRCm39)	S466T	probably benign	Het
Pla2r1	A	G	2: 60,279,306 (GRCm39)	V758A	probably benign	Het
Plod2	G	T	9: 92,480,672 (GRCm39)	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Prkd3	G	A	17: 79,266,570 (GRCm39)		probably benign	Het
Prrc2a	A	G	17: 35,376,908 (GRCm39)	L734P	probably damaging	Het
Rnf128	C	A	X: 138,565,271 (GRCm39)	L282I	probably damaging	Het
Rnf213	A	G	11: 119,359,879 (GRCm39)	N4424S		Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,734,107 (GRCm39)	S66T	probably benign	Het
Setd3	T	C	12: 108,131,417 (GRCm39)	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,242,667 (GRCm39)		probably null	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Spc25	A	G	2: 69,032,945 (GRCm39)	L60P	probably damaging	Het
Stam	A	C	2: 14,143,772 (GRCm39)	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,765,131 (GRCm39)	R254P	probably benign	Het
Traf5	T	C	1: 191,729,837 (GRCm39)	T405A	probably benign	Het
Trav7-4	A	G	14: 53,699,119 (GRCm39)	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,143,862 (GRCm39)	H361N	probably damaging	Het
Ugt2b1	C	A	5: 87,065,534 (GRCm39)	V502L	probably benign	Het
Vip	T	A	10: 5,592,590 (GRCm39)	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,125,979 (GRCm39)	M1025L	probably benign	Het
Zfp541	A	G	7: 15,806,147 (GRCm39)	D94G	probably 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
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
R9324:Hsd17b3	UTSW	13	64,206,459 (GRCm39)	missense	possibly damaging	0.49
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'- GTACTGCAGCATGCTAGTCC -3'
(R):5'- TTTTCACAGGCAGAAGGGAGC -3'

Sequencing Primer
(F):5'- CTGTGAAAGAAAATGACTGACTGTCC -3'
(R):5'- CTAGACATGCATGGTGAAACGTGTG -3'

Posted On

2015-04-30