Mutagenetix > Incidental Mutation

Incidental Mutation 'R6675:Hsd3b2'

527238

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b2

Ensembl Gene

ENSMUSG00000063730

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6675 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98618423-98631859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98620788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 89 (T89I)

Ref Sequence

ENSEMBL: ENSMUSP00000136533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107021] [ENSMUST00000107022] [ENSMUST00000177651]

AlphaFold

P26149

Predicted Effect

probably benign
Transcript: ENSMUST00000107021
AA Change: T89I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000102635
Gene: ENSMUSG00000063730
AA Change: T89I

Domain	Start	End	E-Value	Type
Pfam:KR	5	130	3.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.1e-13	PFAM
Pfam:NmrA	6	139	7.7e-8	PFAM
Pfam:NAD_binding_10	6	207	1.4e-9	PFAM
Pfam:Epimerase	6	254	2.5e-26	PFAM
Pfam:3Beta_HSD	7	288	1.2e-112	PFAM
Pfam:NAD_binding_4	8	221	1.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107022
AA Change: T89I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000102636
Gene: ENSMUSG00000063730
AA Change: T89I

Domain	Start	End	E-Value	Type
Pfam:KR	5	130	3.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.1e-13	PFAM
Pfam:NmrA	6	139	7.7e-8	PFAM
Pfam:NAD_binding_10	6	207	1.4e-9	PFAM
Pfam:Epimerase	6	254	2.5e-26	PFAM
Pfam:3Beta_HSD	7	288	1.2e-112	PFAM
Pfam:NAD_binding_4	8	221	1.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177651
AA Change: T89I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000136533
Gene: ENSMUSG00000063730
AA Change: T89I

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	6	136	1.2e-13	PFAM
Pfam:NmrA	6	140	1.7e-7	PFAM
Pfam:Epimerase	6	249	2.1e-25	PFAM
Pfam:GDP_Man_Dehyd	7	187	2.7e-13	PFAM
Pfam:3Beta_HSD	7	288	8.2e-114	PFAM
Pfam:NAD_binding_4	8	223	1.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196741

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,006,302 (GRCm39)	T1268A	probably benign	Het
Adamts20	A	G	15: 94,229,197 (GRCm39)		probably null	Het
Arhgap45	G	T	10: 79,853,938 (GRCm39)	D151Y	probably null	Het
Arhgef40	C	A	14: 52,229,098 (GRCm39)	L592I	probably damaging	Het
Ascc3	G	T	10: 50,626,659 (GRCm39)	E1720*	probably null	Het
Atp2c1	C	T	9: 105,330,732 (GRCm39)		probably null	Het
Avpi1	G	A	19: 42,112,183 (GRCm39)	P125L	probably benign	Het
Cers3	A	T	7: 66,435,844 (GRCm39)	T232S	possibly damaging	Het
Cfap53	T	C	18: 74,440,447 (GRCm39)		probably null	Het
Col4a3	T	C	1: 82,646,646 (GRCm39)	S386P	unknown	Het
Dhtkd1	A	T	2: 5,908,889 (GRCm39)	M735K	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Gad2	T	C	2: 22,563,997 (GRCm39)	V400A	possibly damaging	Het
Gm10801	TC	TCGCC	2: 98,494,151 (GRCm39)		probably benign	Het
Hmgxb3	T	G	18: 61,270,648 (GRCm39)	D892A	possibly damaging	Het
Iars1	C	A	13: 49,873,054 (GRCm39)	A713D	probably damaging	Het
Itih1	G	A	14: 30,651,798 (GRCm39)	T848I	possibly damaging	Het
Kcne2	A	G	16: 92,093,512 (GRCm39)	D13G	probably benign	Het
Klra17	T	A	6: 129,849,286 (GRCm39)	N96I	probably damaging	Het
Lrig2	T	C	3: 104,365,251 (GRCm39)	N634D	probably benign	Het
Mrc2	T	A	11: 105,233,906 (GRCm39)		probably null	Het
Mroh3	A	T	1: 136,118,550 (GRCm39)	S558T	possibly damaging	Het
Ncapg2	G	T	12: 116,398,281 (GRCm39)	K627N	possibly damaging	Het
Ncstn	A	T	1: 171,899,095 (GRCm39)	D345E	probably damaging	Het
Nkx1-1	G	T	5: 33,591,223 (GRCm39)	A33E	unknown	Het
Or2n1	T	A	17: 38,486,905 (GRCm39)	M310K	probably benign	Het
Or51f2	A	G	7: 102,526,480 (GRCm39)	E51G	possibly damaging	Het
Osbpl9	G	T	4: 108,991,025 (GRCm39)		probably null	Het
P2rx6	T	C	16: 17,380,032 (GRCm39)	V52A	probably benign	Het
Pcdhgb5	C	T	18: 37,864,255 (GRCm39)	L17F	probably damaging	Het
Pdk2	T	C	11: 94,919,568 (GRCm39)	I273V	probably benign	Het
Pdpr	C	T	8: 111,828,532 (GRCm39)	Q12*	probably null	Het
Plxdc2	A	G	2: 16,716,932 (GRCm39)	T339A	probably benign	Het
Pramel27	G	A	4: 143,579,828 (GRCm39)	C471Y	probably damaging	Het
Retsat	T	C	6: 72,578,672 (GRCm39)	V128A	probably benign	Het
Rnf17	A	G	14: 56,697,432 (GRCm39)	E442G	probably damaging	Het
Sec31b	T	C	19: 44,512,214 (GRCm39)	N560S	probably benign	Het
Slc22a16	C	T	10: 40,449,836 (GRCm39)	Q91*	probably null	Het
Slc24a5	G	T	2: 124,922,615 (GRCm39)	A126S	possibly damaging	Het
Slc26a4	A	T	12: 31,590,512 (GRCm39)	D380E	possibly damaging	Het
Stc2	T	A	11: 31,310,307 (GRCm39)	D243V	probably benign	Het
Tshz2	G	T	2: 169,727,965 (GRCm39)	A385S	probably damaging	Het
Vmn1r113	G	A	7: 20,521,903 (GRCm39)	G232S	probably benign	Het
Vmn1r77	A	G	7: 11,775,382 (GRCm39)	T53A	probably damaging	Het
Zeb2	A	T	2: 44,887,457 (GRCm39)	Y518*	probably null	Het
Zfp760	T	A	17: 21,941,991 (GRCm39)	S389T	possibly damaging	Het

Other mutations in Hsd3b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Hsd3b2	APN	3	98,618,859 (GRCm39)	missense	possibly damaging	0.47
IGL01102:Hsd3b2	APN	3	98,618,995 (GRCm39)	missense	probably damaging	0.97
IGL01733:Hsd3b2	APN	3	98,623,801 (GRCm39)	missense	probably damaging	1.00
IGL02202:Hsd3b2	APN	3	98,619,183 (GRCm39)	missense	possibly damaging	0.85
IGL02851:Hsd3b2	APN	3	98,623,740 (GRCm39)	missense	possibly damaging	0.84
R1737:Hsd3b2	UTSW	3	98,618,862 (GRCm39)	missense	probably damaging	1.00
R1800:Hsd3b2	UTSW	3	98,619,553 (GRCm39)	missense	probably damaging	1.00
R1917:Hsd3b2	UTSW	3	98,619,342 (GRCm39)	missense	probably benign
R4797:Hsd3b2	UTSW	3	98,618,979 (GRCm39)	missense	probably damaging	1.00
R5354:Hsd3b2	UTSW	3	98,619,631 (GRCm39)	missense	probably benign	0.39
R5412:Hsd3b2	UTSW	3	98,619,208 (GRCm39)	missense	possibly damaging	0.88
R5940:Hsd3b2	UTSW	3	98,619,287 (GRCm39)	missense	probably benign	0.02
R5954:Hsd3b2	UTSW	3	98,618,875 (GRCm39)	missense	probably benign	0.06
R6012:Hsd3b2	UTSW	3	98,619,333 (GRCm39)	missense	probably benign
R6083:Hsd3b2	UTSW	3	98,619,372 (GRCm39)	missense	possibly damaging	0.94
R7436:Hsd3b2	UTSW	3	98,619,112 (GRCm39)	missense	probably benign	0.00
R8192:Hsd3b2	UTSW	3	98,620,908 (GRCm39)	missense	probably benign	0.00
R9380:Hsd3b2	UTSW	3	98,619,453 (GRCm39)	missense	probably damaging	0.99
R9445:Hsd3b2	UTSW	3	98,619,051 (GRCm39)	missense	possibly damaging	0.95
X0054:Hsd3b2	UTSW	3	98,620,816 (GRCm39)	missense	probably damaging	1.00
Z1176:Hsd3b2	UTSW	3	98,619,538 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGATCTAGTGAGCAGAGGC -3'
(R):5'- TGAATGAGTCAACTTCCCACC -3'

Sequencing Primer
(F):5'- TCTAGTGAGCAGAGGCATTAGAC -3'
(R):5'- TGAATGAGTCAACTTCCCACCTACTC -3'

Posted On

2018-07-23