Mutagenetix > Incidental Mutation

Incidental Mutation 'R5512:Hsd3b1'

440076

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b1

Ensembl Gene

ENSMUSG00000027871

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

Synonyms

D3Ertd383e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R5512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98759510-98767110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98760521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 157 (Y157H)

Ref Sequence

ENSEMBL: ENSMUSP00000102630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029465] [ENSMUST00000107016]

AlphaFold

P24815

Predicted Effect

probably benign
Transcript: ENSMUST00000029465
AA Change: Y157H

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: Y157H

Domain	Start	End	E-Value	Type
Pfam:Epimerase	24	248	3.8e-23	PFAM
Pfam:NAD_binding_4	25	226	3.4e-18	PFAM
Pfam:Polysacc_synt_2	30	129	1.3e-8	PFAM
Pfam:3Beta_HSD	34	282	1.8e-102	PFAM
Pfam:NAD_binding_10	35	228	1.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107016
AA Change: Y157H

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: Y157H

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	264	4.3e-8	PFAM
Pfam:KR	5	133	1.1e-7	PFAM
Pfam:Ldh_1_N	5	135	4.3e-7	PFAM
Pfam:Polysacc_synt_2	6	136	3e-14	PFAM
Pfam:NmrA	6	138	6.2e-10	PFAM
Pfam:Epimerase	6	250	2.9e-30	PFAM
Pfam:GDP_Man_Dehyd	7	216	6.6e-16	PFAM
Pfam:3Beta_HSD	7	288	2.1e-122	PFAM
Pfam:NAD_binding_4	8	219	4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149768
AA Change: Y151H

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120119
Gene: ENSMUSG00000027871
AA Change: Y151H

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_4	24	226	2.9e-19	PFAM
Pfam:Epimerase	24	233	5.5e-24	PFAM
Pfam:Polysacc_synt_2	30	131	1.6e-9	PFAM
Pfam:3Beta_HSD	33	233	9.5e-82	PFAM
Pfam:NAD_binding_10	35	228	9.6e-10	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,952,389 (GRCm39)	V364A	possibly damaging	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Adgre5	T	C	8: 84,455,715 (GRCm39)	N198D	probably benign	Het
Adgrf4	G	T	17: 42,978,176 (GRCm39)	T389K	probably benign	Het
Apc	T	A	18: 34,443,962 (GRCm39)		probably benign	Het
Appl2	T	A	10: 83,441,682 (GRCm39)	I524F	probably damaging	Het
Arhgef37	G	A	18: 61,632,845 (GRCm39)	Q531*	probably null	Het
Atp7b	T	C	8: 22,502,755 (GRCm39)	T694A	probably benign	Het
Cacna1g	T	A	11: 94,334,968 (GRCm39)	I780F	probably damaging	Het
Calcoco2	T	C	11: 95,994,162 (GRCm39)	K95E	probably damaging	Het
Cars1	T	C	7: 143,123,870 (GRCm39)	D388G	possibly damaging	Het
Ccdc150	A	C	1: 54,393,806 (GRCm39)	E690A	probably damaging	Het
Cdc73	G	T	1: 143,578,354 (GRCm39)	D3E	probably damaging	Het
Cdh23	C	A	10: 60,370,165 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,699,919 (GRCm39)	S143P	possibly damaging	Het
Cherp	T	C	8: 73,217,110 (GRCm39)	I607V	possibly damaging	Het
CN725425	T	A	15: 91,124,959 (GRCm39)	H166Q	probably benign	Het
Dcaf6	A	G	1: 165,227,404 (GRCm39)	V241A	possibly damaging	Het
Dot1l	C	T	10: 80,624,825 (GRCm39)	P881S	possibly damaging	Het
Drgx	A	G	14: 32,322,001 (GRCm39)	H5R	probably damaging	Het
Dsg1c	A	T	18: 20,405,568 (GRCm39)	N327I	probably damaging	Het
Fbxw7	G	A	3: 84,862,216 (GRCm39)	R182H	probably damaging	Het
Fkbp1b	A	T	12: 4,888,183 (GRCm39)	V24E	probably benign	Het
Fut11	T	C	14: 20,746,069 (GRCm39)	S304P	probably damaging	Het
Ggt1	C	T	10: 75,420,718 (GRCm39)	T361I	probably damaging	Het
Gimap7	G	T	6: 48,700,530 (GRCm39)	A39S	probably benign	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm17541	G	T	12: 4,739,452 (GRCm39)		probably benign	Het
Gmip	T	A	8: 70,270,540 (GRCm39)	V750E	probably benign	Het
Gna14	A	G	19: 16,585,492 (GRCm39)	E290G	probably benign	Het
Gpnmb	T	C	6: 49,022,398 (GRCm39)	V176A	possibly damaging	Het
Hhla1	T	C	15: 65,795,865 (GRCm39)	K447R	probably benign	Het
Iqgap2	G	A	13: 95,811,884 (GRCm39)	Q706*	probably null	Het
Krt222	A	C	11: 99,125,781 (GRCm39)	S283R	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Masp2	A	T	4: 148,698,526 (GRCm39)	I536F	probably damaging	Het
Mptx1	A	G	1: 174,160,315 (GRCm39)	D207G	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Napsa	A	G	7: 44,222,040 (GRCm39)	M1V	probably null	Het
Ncam1	A	T	9: 49,420,999 (GRCm39)		probably null	Het
Nckap5	G	A	1: 125,955,481 (GRCm39)	P425L	possibly damaging	Het
Nol8	A	G	13: 49,830,263 (GRCm39)	S1116G	probably benign	Het
Nrde2	G	T	12: 100,108,509 (GRCm39)	Q361K	probably benign	Het
Nudt13	G	A	14: 20,357,800 (GRCm39)	G133D	probably damaging	Het
Ofcc1	G	T	13: 40,360,286 (GRCm39)	Q248K	probably benign	Het
Olfm4	A	G	14: 80,258,787 (GRCm39)	D345G	probably benign	Het
Or2t6	C	A	14: 14,175,633 (GRCm38)	G150C	probably damaging	Het
Or4k41	G	A	2: 111,280,099 (GRCm39)	V205I	probably benign	Het
Osbpl3	T	G	6: 50,286,340 (GRCm39)	K659N	probably damaging	Het
Pdk2	G	A	11: 94,930,292 (GRCm39)	T48M	probably damaging	Het
Phf11a	A	T	14: 59,524,999 (GRCm39)	D68E	probably benign	Het
Purb	A	G	11: 6,425,702 (GRCm39)	V62A	probably damaging	Het
Rabep2	A	G	7: 126,037,971 (GRCm39)	T248A	possibly damaging	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,145,250 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,557,805 (GRCm39)	E1345K	unknown	Het
Sema3e	G	A	5: 14,280,194 (GRCm39)	A358T	probably damaging	Het
Slc29a2	A	G	19: 5,076,426 (GRCm39)	I105V	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc6a5	G	A	7: 49,591,573 (GRCm39)	V513I	probably damaging	Het
Slco4a1	T	A	2: 180,115,907 (GRCm39)	F681Y	possibly damaging	Het
Sp1	A	G	15: 102,339,445 (GRCm39)	N775S	possibly damaging	Het
Sspo	T	A	6: 48,432,605 (GRCm39)	V827D	probably damaging	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tars2	A	T	3: 95,657,728 (GRCm39)	C238S	probably damaging	Het
Tasor2	A	T	13: 3,645,517 (GRCm39)	Y111N	probably damaging	Het
Tnks1bp1	C	A	2: 84,893,178 (GRCm39)	P373Q	probably benign	Het
Tnpo3	A	G	6: 29,575,045 (GRCm39)	L373P	probably damaging	Het
Unc45b	A	C	11: 82,805,898 (GRCm39)	D135A	possibly damaging	Het
Vmn1r235	A	T	17: 21,481,677 (GRCm39)	M1L	probably benign	Het
Vmn2r66	T	C	7: 84,657,149 (GRCm39)	I85M	probably damaging	Het
Vmn2r80	T	G	10: 79,004,066 (GRCm39)	L93W	probably benign	Het
Vwf	G	T	6: 125,650,850 (GRCm39)		probably benign	Het
Ythdf3	A	G	3: 16,238,086 (GRCm39)	R9G	probably damaging	Het
Zfp229	A	G	17: 21,964,017 (GRCm39)		probably null	Het
Zfp958	A	C	8: 4,675,838 (GRCm39)		probably null	Het

Other mutations in Hsd3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Hsd3b1	APN	3	98,760,562 (GRCm39)	missense	probably damaging	1.00
IGL01955:Hsd3b1	APN	3	98,760,463 (GRCm39)	missense	probably benign	0.08
IGL02894:Hsd3b1	APN	3	98,760,245 (GRCm39)	missense	possibly damaging	0.88
IGL03136:Hsd3b1	APN	3	98,760,301 (GRCm39)	missense	probably damaging	1.00
R0265:Hsd3b1	UTSW	3	98,760,089 (GRCm39)	missense	probably damaging	1.00
R0326:Hsd3b1	UTSW	3	98,760,590 (GRCm39)	missense	probably damaging	1.00
R0390:Hsd3b1	UTSW	3	98,760,355 (GRCm39)	missense	probably damaging	1.00
R1532:Hsd3b1	UTSW	3	98,760,214 (GRCm39)	missense	probably damaging	1.00
R2845:Hsd3b1	UTSW	3	98,760,094 (GRCm39)	missense	probably damaging	1.00
R2846:Hsd3b1	UTSW	3	98,760,094 (GRCm39)	missense	probably damaging	1.00
R2898:Hsd3b1	UTSW	3	98,760,623 (GRCm39)	missense	probably benign	0.00
R3153:Hsd3b1	UTSW	3	98,759,980 (GRCm39)	missense	probably damaging	0.99
R3950:Hsd3b1	UTSW	3	98,763,454 (GRCm39)	missense	possibly damaging	0.79
R4456:Hsd3b1	UTSW	3	98,763,459 (GRCm39)	missense	probably benign	0.01
R4792:Hsd3b1	UTSW	3	98,760,226 (GRCm39)	missense	probably benign	0.22
R4799:Hsd3b1	UTSW	3	98,760,181 (GRCm39)	missense	probably benign	0.07
R4898:Hsd3b1	UTSW	3	98,760,642 (GRCm39)	missense	probably benign	0.12
R5834:Hsd3b1	UTSW	3	98,760,255 (GRCm39)	missense	possibly damaging	0.60
R5921:Hsd3b1	UTSW	3	98,765,215 (GRCm39)	missense	probably benign	0.06
R6221:Hsd3b1	UTSW	3	98,760,472 (GRCm39)	missense	probably benign	0.00
R6918:Hsd3b1	UTSW	3	98,760,425 (GRCm39)	missense	probably damaging	0.98
R7058:Hsd3b1	UTSW	3	98,765,131 (GRCm39)	splice site	probably null
R7242:Hsd3b1	UTSW	3	98,760,526 (GRCm39)	missense	probably damaging	1.00
R8181:Hsd3b1	UTSW	3	98,763,453 (GRCm39)	missense	probably damaging	1.00
R8187:Hsd3b1	UTSW	3	98,759,933 (GRCm39)	missense	probably damaging	1.00
R8237:Hsd3b1	UTSW	3	98,760,426 (GRCm39)	missense	possibly damaging	0.65
R8695:Hsd3b1	UTSW	3	98,760,223 (GRCm39)	missense	probably damaging	1.00
R8939:Hsd3b1	UTSW	3	98,760,299 (GRCm39)	missense	probably damaging	1.00
R9013:Hsd3b1	UTSW	3	98,759,977 (GRCm39)	missense	probably damaging	1.00
R9188:Hsd3b1	UTSW	3	98,760,216 (GRCm39)	missense	probably damaging	1.00
Z1176:Hsd3b1	UTSW	3	98,760,202 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGCTATGGAGAATTTGCCAG -3'
(R):5'- TCTATTTTCCAACACTGACACTGAC -3'

Sequencing Primer
(F):5'- GCTATGGAGAATTTGCCAGTAACAC -3'
(R):5'- ACAGTGTGTTGTCTGTGATTAGGTAC -3'

Posted On

2016-11-08