Mutagenetix > Incidental Mutation

Incidental Mutation 'R2898:Hsd3b1'

261337

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

040486-MU

Accession Numbers

Essential gene?

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

Stock #

R2898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98759510-98767110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98760623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 123 (C123S)

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: C123S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: C123S

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: C123S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: C123S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	C	T	X: 77,413,868 (GRCm39)	Q198*	probably null	Het
Acap3	C	T	4: 155,987,916 (GRCm39)	R547C	possibly damaging	Het
Acap3	G	C	4: 155,989,388 (GRCm39)		probably null	Het
Adcy6	A	G	15: 98,491,369 (GRCm39)	S1075P	probably damaging	Het
Ankk1	T	A	9: 49,333,122 (GRCm39)	T121S	probably benign	Het
Bnc2	T	C	4: 84,211,152 (GRCm39)	I406V	probably damaging	Het
Bnipl	T	A	3: 95,150,360 (GRCm39)	H219L	probably benign	Het
Brwd1	C	A	16: 95,867,300 (GRCm39)	M178I	probably damaging	Het
Cep192	T	A	18: 67,988,341 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,572 (GRCm39)	F970L	probably damaging	Het
Cit	A	G	5: 116,012,037 (GRCm39)		probably null	Het
Coq9	T	C	8: 95,579,752 (GRCm39)	Y236H	probably damaging	Het
Cxcr2	T	C	1: 74,198,130 (GRCm39)	V208A	probably benign	Het
Dnah10	G	A	5: 124,894,734 (GRCm39)	R3433H	probably damaging	Het
Dnmt3b	G	T	2: 153,509,550 (GRCm39)	V268L	possibly damaging	Het
Fbxw21	T	C	9: 108,985,404 (GRCm39)	T125A	possibly damaging	Het
Fzd9	T	G	5: 135,278,700 (GRCm39)	D395A	probably damaging	Het
Gfm2	T	C	13: 97,309,469 (GRCm39)	V642A	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Hid1	A	G	11: 115,241,356 (GRCm39)	S645P	probably benign	Het
Hmgxb3	C	T	18: 61,288,368 (GRCm39)	V500M	probably benign	Het
Hnf1a	C	T	5: 115,098,106 (GRCm39)	W165*	probably null	Het
Inpp4a	A	T	1: 37,405,675 (GRCm39)	H148L	probably benign	Het
Itpr2	C	T	6: 146,074,839 (GRCm39)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,224,667 (GRCm39)	I1441N	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lmo7	A	G	14: 102,114,350 (GRCm39)	T31A	possibly damaging	Het
Lrrc15	C	T	16: 30,092,604 (GRCm39)	R245H	probably benign	Het
Lrriq1	T	C	10: 103,063,111 (GRCm39)	N65S	probably damaging	Het
Mpp4	T	C	1: 59,183,853 (GRCm39)	I296V	probably benign	Het
Myo6	T	A	9: 80,176,893 (GRCm39)		probably null	Het
Myo7a	G	T	7: 97,703,631 (GRCm39)	Y2003*	probably null	Het
Myo7a	T	C	7: 97,746,413 (GRCm39)	N246D	probably damaging	Het
Ndrg4	A	G	8: 96,405,014 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,522,782 (GRCm39)	S72G	probably benign	Het
Or51g1	T	A	7: 102,634,084 (GRCm39)	I96F	probably benign	Het
Or8b1c	T	C	9: 38,384,271 (GRCm39)	V76A	probably damaging	Het
Pcdhb1	A	G	18: 37,399,516 (GRCm39)	Y489C	probably damaging	Het
Ppp1r10	A	G	17: 36,239,784 (GRCm39)	K501R	probably damaging	Het
Ppp1r9a	C	T	6: 4,906,558 (GRCm39)	T371I	probably benign	Het
Prpf8	A	T	11: 75,386,860 (GRCm39)	T1102S	probably benign	Het
Ric8b	T	G	10: 84,783,761 (GRCm39)	D206E	probably benign	Het
Sacm1l	T	C	9: 123,389,666 (GRCm39)		probably null	Het
Sema6c	C	A	3: 95,080,129 (GRCm39)	L776M	probably damaging	Het
Serpinb8	A	G	1: 107,534,776 (GRCm39)	T32A	unknown	Het
Sh2b3	A	T	5: 121,967,111 (GRCm39)	M1K	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spty2d1	T	A	7: 46,643,100 (GRCm39)	M664L	unknown	Het
Stk36	T	A	1: 74,671,984 (GRCm39)	S895T	probably null	Het
Sycp3	G	A	10: 88,308,544 (GRCm39)	E205K	possibly damaging	Het
Taok3	A	G	5: 117,338,134 (GRCm39)		probably null	Het
Tasor2	T	C	13: 3,635,122 (GRCm39)	N562D	possibly damaging	Het
Tbc1d16	A	T	11: 119,048,654 (GRCm39)	I333N	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thumpd2	C	T	17: 81,351,557 (GRCm39)	W288*	probably null	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm1	T	C	9: 66,938,322 (GRCm39)	D254G	probably damaging	Het
Usp53	A	T	3: 122,751,223 (GRCm39)	L278*	probably null	Het
Zfp37	C	T	4: 62,110,014 (GRCm39)	G350D	probably damaging	Het
Zfp777	C	T	6: 48,002,594 (GRCm39)	E543K	probably damaging	Het
Zfp81	A	T	17: 33,553,274 (GRCm39)	C513*	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
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'- TACATGGGTCTTAAGGCACAAG -3'
(R):5'- TTTATTCTCATGTGCCCAAAGC -3'

Sequencing Primer
(F):5'- CATGGGTCTTAAGGCACAAGTATTC -3'
(R):5'- CATAGTTATGCGGATTCAGGAATAG -3'

Posted On

2015-01-23