Mutagenetix > Incidental Mutation

Incidental Mutation 'R6348:Hsd3b3'

531267

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b3

Ensembl Gene

ENSMUSG00000062410

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R6348 (G1)

Quality Score

97.0078

Status

Validated

Chromosome

Chromosomal Location

98741523-98763127 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 98755949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000146196]

AlphaFold

P26150

Predicted Effect

probably null
Transcript: ENSMUST00000146196

SMART Domains

Protein: ENSMUSP00000121360
Gene: ENSMUSG00000062410

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	174	1.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-9	PFAM
Pfam:KR	5	133	9.5e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.8e-14	PFAM
Pfam:NmrA	6	137	1.8e-9	PFAM
Pfam:Epimerase	6	187	2.2e-23	PFAM
Pfam:NAD_binding_10	6	187	1.4e-10	PFAM
Pfam:3Beta_HSD	7	187	9.3e-76	PFAM
Pfam:NAD_binding_4	8	176	6.5e-20	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	T	6: 116,414,595	H400Q	probably damaging	Het
Arhgef16	G	T	4: 154,287,083	Q218K	probably benign	Het
Asxl3	A	T	18: 22,517,273	H773L	possibly damaging	Het
Atic	C	T	1: 71,576,698	R468W	probably damaging	Het
Bfsp2	A	T	9: 103,480,072	V52D	probably benign	Het
Bicd2	A	G	13: 49,379,846	H636R	probably damaging	Het
Chac2	A	G	11: 30,977,406	V171A	probably damaging	Het
Chd9	A	G	8: 91,011,275	I1512V	possibly damaging	Het
Cnbd1	T	C	4: 18,860,462	D428G	probably damaging	Het
Crlf1	T	C	8: 70,493,340	S22P	probably benign	Het
Crybg1	A	G	10: 44,003,951	F414L	probably damaging	Het
Dnah14	A	T	1: 181,626,720	D765V	possibly damaging	Het
Fat3	A	G	9: 15,937,991		probably null	Het
Gabbr1	A	T	17: 37,056,899	M414L	possibly damaging	Het
Gm960	G	C	19: 4,672,078	P105A	probably damaging	Het
Grip2	A	T	6: 91,780,438	D412E	probably damaging	Het
Herc1	G	A	9: 66,487,976	A4198T	possibly damaging	Het
Ifi213	G	A	1: 173,590,282	T188I	possibly damaging	Het
Il1f5	G	A	2: 24,279,714	A29T	probably damaging	Het
Kdelc2	G	A	9: 53,390,440	V131M	probably damaging	Het
Klk1b11	T	C	7: 43,997,851		probably null	Het
Mepce	A	T	5: 137,785,436	D209E	possibly damaging	Het
Mtr	A	C	13: 12,247,954	V111G	possibly damaging	Het
Olfr1058	T	A	2: 86,386,169	Q83L	probably benign	Het
Olfr826	A	T	10: 130,180,297	N194K	probably benign	Het
Olfr93	A	G	17: 37,151,606	V122A	probably damaging	Het
P2rx1	G	A	11: 72,999,322	R3Q	probably benign	Het
Phc2	G	A	4: 128,705,151	G34S	probably benign	Het
Ppm1a	A	G	12: 72,790,675	H332R	probably benign	Het
Sdk2	A	G	11: 113,893,508	V135A	probably benign	Het
Skiv2l2	T	A	13: 112,910,917	H298L	possibly damaging	Het
Slc2a4	T	C	11: 69,945,022	T334A	probably benign	Het
Slc6a15	T	G	10: 103,404,367	V317G	probably damaging	Het
Speer2	T	C	16: 69,858,007	D190G	possibly damaging	Het
Tbc1d21	G	A	9: 58,361,218	A286V	probably benign	Het
Tmem210	T	C	2: 25,288,784	S82P	probably benign	Het
Zbtb26	C	T	2: 37,435,675	V450M	probably benign	Het

Other mutations in Hsd3b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:Hsd3b3	APN	3	98741900	missense	probably benign	0.09
IGL01776:Hsd3b3	APN	3	98743847	missense	probably benign	0.05
IGL02189:Hsd3b3	APN	3	98742138	missense	probably benign
R0689:Hsd3b3	UTSW	3	98741979	missense	possibly damaging	0.76
R0893:Hsd3b3	UTSW	3	98742441	splice site	probably null
R1759:Hsd3b3	UTSW	3	98742083	missense	probably damaging	0.96
R2008:Hsd3b3	UTSW	3	98742092	missense	probably damaging	1.00
R3931:Hsd3b3	UTSW	3	98742176	missense	probably damaging	1.00
R4614:Hsd3b3	UTSW	3	98742080	missense	probably benign	0.03
R4664:Hsd3b3	UTSW	3	98742216	missense	probably damaging	1.00
R4749:Hsd3b3	UTSW	3	98742615	missense	probably damaging	1.00
R4766:Hsd3b3	UTSW	3	98742485	missense	probably damaging	1.00
R4876:Hsd3b3	UTSW	3	98742644	missense	probably damaging	1.00
R5074:Hsd3b3	UTSW	3	98742024	missense	possibly damaging	0.94
R5622:Hsd3b3	UTSW	3	98742208	missense	possibly damaging	0.79
R6280:Hsd3b3	UTSW	3	98753305	splice site	probably null
R7070:Hsd3b3	UTSW	3	98742471	missense	possibly damaging	0.64
R7283:Hsd3b3	UTSW	3	98742357	nonsense	probably null
R7747:Hsd3b3	UTSW	3	98743898	missense	possibly damaging	0.76
R8054:Hsd3b3	UTSW	3	98742015	missense	probably damaging	1.00
R8553:Hsd3b3	UTSW	3	98743889	missense	possibly damaging	0.87
R9130:Hsd3b3	UTSW	3	98743895	missense	possibly damaging	0.94
R9164:Hsd3b3	UTSW	3	98753373	missense	probably benign	0.00
R9333:Hsd3b3	UTSW	3	98741900	missense	probably benign	0.09
Z1176:Hsd3b3	UTSW	3	98743960	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTGTTTTAATAAGGGGCCACTATC -3'
(R):5'- TCTGAGTTGATTGAAAGTGCTGAC -3'

Sequencing Primer
(F):5'- TTTTAATAAGGGGCCACTATCATAAC -3'
(R):5'- TGCTGACACTGCTGCTG -3'

Posted On

2018-08-27