Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Hsd17b3'

482116

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 #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64206080-64237044 bp(-) (GRCm39)

Type of Mutation

splice site (3849 bp from exon)

DNA Base Change (assembly)

T to C at 64207284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152274 (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 null
Transcript: ENSMUST00000222810

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,549 (GRCm39)	L188*	probably null	Het
Acod1	C	T	14: 103,292,471 (GRCm39)	R332C	probably damaging	Het
Adamts3	T	A	5: 89,839,194 (GRCm39)	K852M	probably damaging	Het
Adm	A	T	7: 110,226,903 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,263,837 (GRCm39)	S286G	probably damaging	Het
Ank2	A	G	3: 126,753,300 (GRCm39)		probably null	Het
Aqr	A	T	2: 113,973,530 (GRCm39)	Y427*	probably null	Het
Arid1b	C	A	17: 5,045,231 (GRCm39)		probably benign	Het
Arpp21	T	A	9: 111,972,553 (GRCm39)	R259*	probably null	Het
Cep290	C	T	10: 100,379,183 (GRCm39)	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Clcn2	T	C	16: 20,532,404 (GRCm39)	E68G	possibly damaging	Het
Corin	T	A	5: 72,473,732 (GRCm39)	H699L	probably benign	Het
Cyld	T	C	8: 89,459,681 (GRCm39)	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,259,883 (GRCm39)	E613V	probably damaging	Het
Dlk1	T	C	12: 109,421,507 (GRCm39)	C74R	probably damaging	Het
Dnah12	A	C	14: 26,418,496 (GRCm39)	K128T	probably benign	Het
Dspp	T	A	5: 104,326,317 (GRCm39)	S893R	unknown	Het
Dtl	A	T	1: 191,300,684 (GRCm39)		probably null	Het
F2rl1	T	A	13: 95,650,778 (GRCm39)	S35C	probably benign	Het
Fcgbp	A	T	7: 27,819,959 (GRCm39)	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,852,044 (GRCm39)	D42V	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm21190	T	A	5: 15,729,849 (GRCm39)	E256D	probably damaging	Het
Gm5157	A	G	7: 20,919,346 (GRCm39)	S66P	probably damaging	Het
Hal	T	G	10: 93,326,778 (GRCm39)	L138R	probably damaging	Het
Lrrc37	A	T	11: 103,504,618 (GRCm39)	M2450K	possibly damaging	Het
Lrsam1	T	C	2: 32,845,234 (GRCm39)	T94A	probably benign	Het
Macc1	T	C	12: 119,411,320 (GRCm39)	V696A	probably damaging	Het
Magi2	G	A	5: 19,432,289 (GRCm39)	M1I	probably null	Het
Marchf7	C	A	2: 60,075,564 (GRCm39)	N674K	probably benign	Het
Mfap1b	A	G	2: 121,300,776 (GRCm39)	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069 (GRCm39)	S40L	probably benign	Het
Ndufs2	A	T	1: 171,063,987 (GRCm39)	V386E	probably damaging	Het
Nfic	C	T	10: 81,256,581 (GRCm39)	A19T	probably damaging	Het
Nfs1	G	A	2: 155,976,373 (GRCm39)	R174W	probably damaging	Het
Nin	G	T	12: 70,092,298 (GRCm39)	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,930,935 (GRCm39)	I754V	probably benign	Het
Nwd1	T	C	8: 73,380,201 (GRCm39)		probably null	Het
Or4a39	T	A	2: 89,237,223 (GRCm39)	M67L	probably benign	Het
Or4c1	T	A	2: 89,133,703 (GRCm39)	T78S	possibly damaging	Het
Or51a6	G	T	7: 102,604,216 (GRCm39)	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,896,502 (GRCm39)	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,246,723 (GRCm39)	R638*	probably null	Het
Pkmyt1	G	C	17: 23,954,300 (GRCm39)	W360S	probably benign	Het
Plxnd1	C	A	6: 115,944,748 (GRCm39)		probably null	Het
Poldip3	A	T	15: 83,013,430 (GRCm39)	N322K	probably damaging	Het
Prmt3	A	T	7: 49,478,695 (GRCm39)	I419L	probably benign	Het
Prss36	A	T	7: 127,544,002 (GRCm39)	V123E	probably damaging	Het
Prss58	A	G	6: 40,874,703 (GRCm39)	I46T	probably damaging	Het
Rac1	T	C	5: 143,492,753 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,304,220 (GRCm39)	Y36C	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rp1	A	T	1: 4,218,926 (GRCm39)	F951L	unknown	Het
Rps6ka5	G	T	12: 100,541,509 (GRCm39)	P417T	possibly damaging	Het
Ryr1	A	G	7: 28,767,062 (GRCm39)	W2967R	probably damaging	Het
Sacs	T	A	14: 61,442,992 (GRCm39)	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,165,800 (GRCm39)	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,373,726 (GRCm39)	Y114C	probably damaging	Het
Son	T	C	16: 91,455,792 (GRCm39)	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534 (GRCm39)	V447M	probably benign	Het
St3gal2	T	A	8: 111,696,185 (GRCm39)	Y257N	probably damaging	Het
Tars1	A	T	15: 11,397,282 (GRCm39)	D40E	probably damaging	Het
Tlr3	T	C	8: 45,850,851 (GRCm39)	H158R	probably benign	Het
Tppp2	G	T	14: 52,156,392 (GRCm39)	V50L	probably benign	Het
Trrap	T	C	5: 144,746,994 (GRCm39)	S1503P	probably benign	Het
Ttll4	T	G	1: 74,724,550 (GRCm39)	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,249,747 (GRCm39)	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,167,068 (GRCm39)	C688S	probably damaging	Het
Vps16	T	C	2: 130,266,369 (GRCm39)		probably null	Het
Zfp608	G	A	18: 55,032,320 (GRCm39)	T540I	probably benign	Het
Zfp775	G	A	6: 48,596,750 (GRCm39)	R208Q	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
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
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'- TTTCACAGGCAGAAGGGAGC -3'

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

Posted On

2017-06-27