Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Hsd3b1'

34836

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

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R0265 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

98759510-98767110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98760089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 301 (V301L)

Ref Sequence

ENSEMBL: ENSMUSP00000102630 (fasta)

Gene Model

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

AlphaFold

P24815

Predicted Effect

probably damaging
Transcript: ENSMUST00000029465
AA Change: V301L

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

SMART Domains

Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: V301L

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 damaging
Transcript: ENSMUST00000107016
AA Change: V301L

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

SMART Domains

Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: V301L

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

Meta Mutation Damage Score

0.4103

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,822,850 (GRCm39)	I321V	probably benign	Het
Adcy7	A	G	8: 89,051,391 (GRCm39)	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,617,440 (GRCm39)	Y457*	probably null	Het
Alox5	T	C	6: 116,397,323 (GRCm39)	Y287C	probably benign	Het
Ano8	T	C	8: 71,933,168 (GRCm39)		probably benign	Het
Ap3b1	A	G	13: 94,630,189 (GRCm39)	K815E	unknown	Het
Atp11a	A	T	8: 12,906,930 (GRCm39)		probably benign	Het
Atp6v0a1	A	T	11: 100,939,341 (GRCm39)	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,651,856 (GRCm39)	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,812,637 (GRCm39)	A39G	probably benign	Het
Cdhr1	A	T	14: 36,803,333 (GRCm39)	V581D	probably benign	Het
Cfap20dc	T	G	14: 8,431,667 (GRCm38)	Y655S	probably damaging	Het
Cyp2b23	A	G	7: 26,372,304 (GRCm39)		probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,330,048 (GRCm39)		probably benign	Het
Dnah8	A	T	17: 30,909,245 (GRCm39)	I1024F	probably benign	Het
Dync2i1	T	C	12: 116,221,026 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,634,621 (GRCm39)	F213I	probably damaging	Het
Edrf1	G	A	7: 133,258,774 (GRCm39)	D717N	probably damaging	Het
Efna5	G	A	17: 62,958,068 (GRCm39)	P63S	probably damaging	Het
Elapor2	T	C	5: 9,484,681 (GRCm39)	L486P	probably damaging	Het
Entpd3	A	G	9: 120,387,547 (GRCm39)	Y248C	probably damaging	Het
Flcn	G	A	11: 59,686,635 (GRCm39)	Q373*	probably null	Het
Fry	T	C	5: 150,358,241 (GRCm39)	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,031,365 (GRCm39)	Y58*	probably null	Het
Gabrp	A	T	11: 33,502,614 (GRCm39)	Y417N	probably damaging	Het
Golga2	C	A	2: 32,194,964 (GRCm39)		probably null	Het
Grip2	C	A	6: 91,750,773 (GRCm39)		probably null	Het
Gsx2	A	G	5: 75,237,729 (GRCm39)	Y227C	probably damaging	Het
H2ac1	T	C	13: 24,118,632 (GRCm39)	V63A	probably benign	Het
Hif3a	T	C	7: 16,769,793 (GRCm39)	*665W	probably null	Het
Ifitm5	T	C	7: 140,529,921 (GRCm39)		probably benign	Het
Inpp4a	A	T	1: 37,418,067 (GRCm39)	D498V	probably damaging	Het
Itga1	A	T	13: 115,128,995 (GRCm39)	D554E	probably benign	Het
Itk	G	A	11: 46,280,285 (GRCm39)		probably benign	Het
Kdm3b	T	A	18: 34,928,716 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,766,984 (GRCm39)	V470A	probably benign	Het
Lamb3	T	A	1: 193,002,839 (GRCm39)	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,376,676 (GRCm39)	I41N	probably damaging	Het
Lrp4	A	T	2: 91,321,015 (GRCm39)	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,832,743 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,749,919 (GRCm39)	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,792,507 (GRCm39)		probably benign	Het
Mocos	A	G	18: 24,799,333 (GRCm39)	D189G	probably benign	Het
Mvb12a	T	A	8: 71,999,654 (GRCm39)	F224L	probably damaging	Het
Myo15a	A	T	11: 60,405,723 (GRCm39)		probably null	Het
Nos2	A	T	11: 78,828,428 (GRCm39)	H249L	probably damaging	Het
Notum	A	G	11: 120,549,160 (GRCm39)	M184T	probably benign	Het
Nvl	C	A	1: 180,962,395 (GRCm39)	D192Y	probably damaging	Het
Or10j3	A	G	1: 173,031,484 (GRCm39)	K187R	probably benign	Het
Or4f57	T	C	2: 111,790,839 (GRCm39)	Y193C	probably damaging	Het
Or5ac22	A	T	16: 59,135,434 (GRCm39)	F112Y	probably damaging	Het
Or5m12	T	A	2: 85,734,591 (GRCm39)	N269I	probably benign	Het
Or8k27	C	A	2: 86,276,303 (GRCm39)	V8L	probably benign	Het
Osgin1	A	G	8: 120,172,396 (GRCm39)	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,510 (GRCm39)	V123A	probably damaging	Het
P4ha1	A	G	10: 59,184,081 (GRCm39)	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,954,403 (GRCm39)	D559V	probably damaging	Het
Phf2	T	C	13: 48,982,270 (GRCm39)	N151S	unknown	Het
Plxnc1	C	A	10: 94,648,991 (GRCm39)	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,901,160 (GRCm39)	*338Q	probably null	Het
Raver1	A	G	9: 20,986,955 (GRCm39)	S676P	probably benign	Het
Rfx8	T	C	1: 39,727,737 (GRCm39)	E196G	possibly damaging	Het
Rreb1	A	T	13: 38,100,131 (GRCm39)	K187*	probably null	Het
Rxfp1	T	C	3: 79,574,961 (GRCm39)	T217A	probably benign	Het
Rxra	T	C	2: 27,642,442 (GRCm39)	L305P	probably damaging	Het
Sardh	T	C	2: 27,117,078 (GRCm39)		probably benign	Het
Skor2	A	T	18: 76,964,293 (GRCm39)	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,147,334 (GRCm39)	S343T	probably benign	Het
Sorbs2	T	C	8: 46,238,374 (GRCm39)		probably benign	Het
Supt7l	C	T	5: 31,673,262 (GRCm39)	V329I	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165 (GRCm39)		probably benign	Het
Tcn2	A	T	11: 3,872,044 (GRCm39)	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,347,582 (GRCm39)	A170T	possibly damaging	Het
Tnks	G	A	8: 35,307,124 (GRCm39)	R1142*	probably null	Het
Ttll7	C	A	3: 146,649,915 (GRCm39)	Y648*	probably null	Het
Umod	G	T	7: 119,065,296 (GRCm39)	Q578K	probably benign	Het
Upf2	G	A	2: 6,032,015 (GRCm39)		probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Washc5	A	G	15: 59,210,809 (GRCm39)	I1013T	probably benign	Het
Zfp704	C	A	3: 9,630,217 (GRCm39)	R48L	probably damaging	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
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
R5512:Hsd3b1	UTSW	3	98,760,521 (GRCm39)	missense	probably benign	0.06
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'- GCTTTGCTTCCTCCCAGTTGACAAG -3'
(R):5'- GCAAGTGTGCCAGCCTTCATCTTC -3'

Sequencing Primer
(F):5'- TTGACAAGTGGCTCATAGCCC -3'
(R):5'- TGAAAGCACATGGTCTGATCC -3'

Posted On

2013-05-09