Mutagenetix > Incidental Mutation

Incidental Mutation 'R8994:Hsd17b3'

684610

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

068825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8994 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64206080-64237044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64210695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 220 (Q220R)

Ref Sequence

ENSEMBL: ENSMUSP00000044217 (fasta)

Gene Model

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

AlphaFold

P70385

Predicted Effect

probably damaging
Transcript: ENSMUST00000039832
AA Change: Q220R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: Q220R

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: Q220R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: Q220R

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 damaging
Transcript: ENSMUST00000222783
AA Change: Q220R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222810

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,771,556 (GRCm39)		probably null	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Ank2	A	T	3: 126,723,471 (GRCm39)	M952K	probably benign	Het
Ccser2	A	T	14: 36,662,076 (GRCm39)	N369K	probably benign	Het
Cd300e	A	T	11: 114,946,348 (GRCm39)	Y38N	probably damaging	Het
Crat	G	T	2: 30,297,887 (GRCm39)	F212L	probably damaging	Het
Dnah8	T	A	17: 31,009,807 (GRCm39)	S3733T	probably benign	Het
Fam135a	C	T	1: 24,067,621 (GRCm39)	D1083N	probably damaging	Het
Fam174a	C	A	1: 95,241,689 (GRCm39)	P50T	possibly damaging	Het
Fars2	T	A	13: 36,388,849 (GRCm39)	Y113N	probably damaging	Het
Fpr3	T	C	17: 18,191,341 (GRCm39)	I204T	possibly damaging	Het
Frmd3	T	C	4: 74,088,985 (GRCm39)	V394A	probably benign	Het
Garin5a	G	T	7: 44,146,342 (GRCm39)	R16L	probably benign	Het
Gpbp1	C	A	13: 111,603,384 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,441,629 (GRCm39)	F1197Y	probably benign	Het
Herc3	A	G	6: 58,851,328 (GRCm39)	T526A	probably benign	Het
Hnrnpul2	T	C	19: 8,802,350 (GRCm39)	C406R	probably damaging	Het
Igf2r	T	A	17: 12,935,537 (GRCm39)	Y651F	possibly damaging	Het
Kcng1	C	T	2: 168,110,768 (GRCm39)	R132Q	probably benign	Het
Kif1a	G	A	1: 92,983,457 (GRCm39)	S680F	possibly damaging	Het
Kif1b	T	C	4: 149,279,939 (GRCm39)	D27G		Het
Klk12	A	T	7: 43,421,485 (GRCm39)	T180S	probably damaging	Het
Klk1b27	A	G	7: 43,705,136 (GRCm39)	H101R	probably damaging	Het
Lrp6	C	A	6: 134,518,656 (GRCm39)	E136D	probably benign	Het
Mcm9	T	C	10: 53,424,620 (GRCm39)	I657V	probably benign	Het
Med13l	A	C	5: 118,866,226 (GRCm39)	K427Q	possibly damaging	Het
Nol10	A	T	12: 17,402,717 (GRCm39)	D63V	probably damaging	Het
Nudcd2	A	G	11: 40,624,862 (GRCm39)	T24A	probably damaging	Het
Nup155	T	C	15: 8,172,645 (GRCm39)		probably null	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or10p1	A	T	10: 129,444,005 (GRCm39)	L115H	probably damaging	Het
Or51af1	A	T	7: 103,141,800 (GRCm39)	M95K	probably benign	Het
Or5p81	G	A	7: 108,267,169 (GRCm39)	C182Y	probably damaging	Het
Or8c19-ps1	A	T	9: 38,220,581 (GRCm39)	*163Y	probably null	Het
Piezo1	T	C	8: 123,209,829 (GRCm39)	D2314G	unknown	Het
Pkhd1l1	T	C	15: 44,410,499 (GRCm39)	F2669L	probably damaging	Het
Plpp4	A	G	7: 128,981,157 (GRCm39)	R178G	probably damaging	Het
Ppp1r13l	G	T	7: 19,102,695 (GRCm39)	A37S	possibly damaging	Het
Prl6a1	A	G	13: 27,499,417 (GRCm39)	T62A	probably benign	Het
Ranbp2	C	A	10: 58,315,891 (GRCm39)	Q2204K	possibly damaging	Het
Rbm48	T	A	5: 3,640,795 (GRCm39)	M195L	probably benign	Het
Rigi	C	A	4: 40,205,941 (GRCm39)	E884*	probably null	Het
Shank3	T	A	15: 89,417,416 (GRCm39)	F4L	probably benign	Het
Slain2	T	A	5: 73,114,984 (GRCm39)	V405D	probably damaging	Het
Slitrk5	A	C	14: 111,918,227 (GRCm39)	D617A	probably benign	Het
Sp140	T	A	1: 85,549,603 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,443,542 (GRCm39)	T240A	probably benign	Het
Timm21	T	C	18: 84,969,489 (GRCm39)		probably benign	Het
Tmem131	T	C	1: 36,854,538 (GRCm39)	S904G	probably benign	Het
Tmem86b	A	G	7: 4,632,706 (GRCm39)	C53R	unknown	Het
Wdr33	T	C	18: 31,960,459 (GRCm39)	L41P	probably benign	Het
Zfp112	A	C	7: 23,825,490 (GRCm39)	H490P	probably benign	Het
Zfp455	T	C	13: 67,355,478 (GRCm39)	Y184H	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
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
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'- CCAGAAATCTCAGCAGCAGGAG -3'
(R):5'- GCCTGTACTCAGCTTCCAAG -3'

Sequencing Primer
(F):5'- TCTCAGCAGCAGGAGGGATTG -3'
(R):5'- GTGAGTGACAAGTTACCCAAGTCTC -3'

Posted On

2021-10-11