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

9030618K22Rik

MMRRC Submission

044502-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6348 (G1)

Quality Score

97.0078

Status

Validated

Chromosome

Chromosomal Location

98648839-98670443 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 98663265 bp (GRCm39)

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: 116,391,556 (GRCm39)	H400Q	probably damaging	Het
Arhgef16	G	T	4: 154,371,540 (GRCm39)	Q218K	probably benign	Het
Asxl3	A	T	18: 22,650,330 (GRCm39)	H773L	possibly damaging	Het
Atic	C	T	1: 71,615,857 (GRCm39)	R468W	probably damaging	Het
Bfsp2	A	T	9: 103,357,271 (GRCm39)	V52D	probably benign	Het
Bicd2	A	G	13: 49,533,322 (GRCm39)	H636R	probably damaging	Het
Chac2	A	G	11: 30,927,406 (GRCm39)	V171A	probably damaging	Het
Chd9	A	G	8: 91,737,903 (GRCm39)	I1512V	possibly damaging	Het
Cnbd1	T	C	4: 18,860,462 (GRCm39)	D428G	probably damaging	Het
Crlf1	T	C	8: 70,945,990 (GRCm39)	S22P	probably benign	Het
Crybg1	A	G	10: 43,879,947 (GRCm39)	F414L	probably damaging	Het
Dnah14	A	T	1: 181,454,285 (GRCm39)	D765V	possibly damaging	Het
Fat3	A	G	9: 15,849,287 (GRCm39)		probably null	Het
Gabbr1	A	T	17: 37,367,791 (GRCm39)	M414L	possibly damaging	Het
Grip2	A	T	6: 91,757,419 (GRCm39)	D412E	probably damaging	Het
Herc1	G	A	9: 66,395,258 (GRCm39)	A4198T	possibly damaging	Het
Ifi213	G	A	1: 173,417,848 (GRCm39)	T188I	possibly damaging	Het
Il36rn	G	A	2: 24,169,726 (GRCm39)	A29T	probably damaging	Het
Klk1b11	T	C	7: 43,647,275 (GRCm39)		probably null	Het
Mepce	A	T	5: 137,783,698 (GRCm39)	D209E	possibly damaging	Het
Mtr	A	C	13: 12,262,840 (GRCm39)	V111G	possibly damaging	Het
Mtrex	T	A	13: 113,047,451 (GRCm39)	H298L	possibly damaging	Het
Or2h1b	A	G	17: 37,462,497 (GRCm39)	V122A	probably damaging	Het
Or8k24	T	A	2: 86,216,513 (GRCm39)	Q83L	probably benign	Het
Or9k2b	A	T	10: 130,016,166 (GRCm39)	N194K	probably benign	Het
P2rx1	G	A	11: 72,890,148 (GRCm39)	R3Q	probably benign	Het
Phc2	G	A	4: 128,598,944 (GRCm39)	G34S	probably benign	Het
Poglut3	G	A	9: 53,301,740 (GRCm39)	V131M	probably damaging	Het
Ppm1a	A	G	12: 72,837,449 (GRCm39)	H332R	probably benign	Het
Sdk2	A	G	11: 113,784,334 (GRCm39)	V135A	probably benign	Het
Slc2a4	T	C	11: 69,835,848 (GRCm39)	T334A	probably benign	Het
Slc6a15	T	G	10: 103,240,228 (GRCm39)	V317G	probably damaging	Het
Speer2	T	C	16: 69,654,895 (GRCm39)	D190G	possibly damaging	Het
Tbc1d21	G	A	9: 58,268,501 (GRCm39)	A286V	probably benign	Het
Tmem210	T	C	2: 25,178,796 (GRCm39)	S82P	probably benign	Het
Top6bl	G	C	19: 4,722,106 (GRCm39)	P105A	probably damaging	Het
Zbtb26	C	T	2: 37,325,687 (GRCm39)	V450M	probably benign	Het

Other mutations in Hsd3b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:Hsd3b3	APN	3	98,649,216 (GRCm39)	missense	probably benign	0.09
IGL01776:Hsd3b3	APN	3	98,651,163 (GRCm39)	missense	probably benign	0.05
IGL02189:Hsd3b3	APN	3	98,649,454 (GRCm39)	missense	probably benign
R0689:Hsd3b3	UTSW	3	98,649,295 (GRCm39)	missense	possibly damaging	0.76
R0893:Hsd3b3	UTSW	3	98,649,757 (GRCm39)	splice site	probably null
R1759:Hsd3b3	UTSW	3	98,649,399 (GRCm39)	missense	probably damaging	0.96
R2008:Hsd3b3	UTSW	3	98,649,408 (GRCm39)	missense	probably damaging	1.00
R3931:Hsd3b3	UTSW	3	98,649,492 (GRCm39)	missense	probably damaging	1.00
R4614:Hsd3b3	UTSW	3	98,649,396 (GRCm39)	missense	probably benign	0.03
R4664:Hsd3b3	UTSW	3	98,649,532 (GRCm39)	missense	probably damaging	1.00
R4749:Hsd3b3	UTSW	3	98,649,931 (GRCm39)	missense	probably damaging	1.00
R4766:Hsd3b3	UTSW	3	98,649,801 (GRCm39)	missense	probably damaging	1.00
R4876:Hsd3b3	UTSW	3	98,649,960 (GRCm39)	missense	probably damaging	1.00
R5074:Hsd3b3	UTSW	3	98,649,340 (GRCm39)	missense	possibly damaging	0.94
R5622:Hsd3b3	UTSW	3	98,649,524 (GRCm39)	missense	possibly damaging	0.79
R6280:Hsd3b3	UTSW	3	98,660,621 (GRCm39)	splice site	probably null
R7070:Hsd3b3	UTSW	3	98,649,787 (GRCm39)	missense	possibly damaging	0.64
R7283:Hsd3b3	UTSW	3	98,649,673 (GRCm39)	nonsense	probably null
R7747:Hsd3b3	UTSW	3	98,651,214 (GRCm39)	missense	possibly damaging	0.76
R8054:Hsd3b3	UTSW	3	98,649,331 (GRCm39)	missense	probably damaging	1.00
R8553:Hsd3b3	UTSW	3	98,651,205 (GRCm39)	missense	possibly damaging	0.87
R9130:Hsd3b3	UTSW	3	98,651,211 (GRCm39)	missense	possibly damaging	0.94
R9164:Hsd3b3	UTSW	3	98,660,689 (GRCm39)	missense	probably benign	0.00
R9333:Hsd3b3	UTSW	3	98,649,216 (GRCm39)	missense	probably benign	0.09
Z1176:Hsd3b3	UTSW	3	98,651,276 (GRCm39)	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