Mutagenetix > Incidental Mutation

Incidental Mutation 'R6280:Hsd3b3'

507883

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

044450-MU

Accession Numbers

Essential gene?

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

Stock #

R6280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98648839-98670443 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 98660621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090743] [ENSMUST00000094050] [ENSMUST00000107018] [ENSMUST00000107019] [ENSMUST00000146196]

AlphaFold

P26150

Predicted Effect

probably null
Transcript: ENSMUST00000090743

SMART Domains

Protein: ENSMUSP00000088246
Gene: ENSMUSG00000062410

Domain	Start	End	E-Value	Type
Pfam:KR	5	132	8.2e-7	PFAM
Pfam:adh_short	5	133	3.9e-8	PFAM
Pfam:Polysacc_synt_2	6	134	3.5e-13	PFAM
Pfam:NmrA	6	136	2.5e-8	PFAM
Pfam:NAD_binding_10	6	237	5.8e-10	PFAM
Pfam:Epimerase	6	256	1.4e-27	PFAM
Pfam:3Beta_HSD	7	288	1.6e-114	PFAM
Pfam:NAD_binding_4	8	220	1.1e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000094050

SMART Domains

Protein: ENSMUSP00000091592
Gene: ENSMUSG00000062410

Domain	Start	End	E-Value	Type
Pfam:3Beta_HSD	7	51	2e-12	PFAM
Pfam:NAD_binding_4	39	162	7.4e-7	PFAM
Pfam:Epimerase	43	201	2.1e-12	PFAM
Pfam:3Beta_HSD	48	233	4.1e-75	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107018

SMART Domains

Protein: ENSMUSP00000102632
Gene: ENSMUSG00000062410

Domain	Start	End	E-Value	Type
Pfam:KR	5	132	8.2e-7	PFAM
Pfam:adh_short	5	133	3.9e-8	PFAM
Pfam:Polysacc_synt_2	6	134	3.5e-13	PFAM
Pfam:NmrA	6	136	2.5e-8	PFAM
Pfam:NAD_binding_10	6	237	5.8e-10	PFAM
Pfam:Epimerase	6	256	1.4e-27	PFAM
Pfam:3Beta_HSD	7	288	1.6e-114	PFAM
Pfam:NAD_binding_4	8	220	1.1e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107019

SMART Domains

Protein: ENSMUSP00000102633
Gene: ENSMUSG00000062410

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	6	135	1.9e-13	PFAM
Pfam:NmrA	6	137	5.6e-8	PFAM
Pfam:Epimerase	6	250	2e-26	PFAM
Pfam:GDP_Man_Dehyd	7	213	1.9e-13	PFAM
Pfam:3Beta_HSD	7	288	4.3e-116	PFAM
Pfam:NAD_binding_4	8	207	2.5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125483

SMART Domains

Protein: ENSMUSP00000116052
Gene: ENSMUSG00000062410

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	213	1.5e-7	PFAM
Pfam:adh_short	5	133	8.2e-9	PFAM
Pfam:KR	5	133	1.4e-7	PFAM
Pfam:Polysacc_synt_2	6	134	4.3e-14	PFAM
Pfam:NmrA	6	137	2.7e-9	PFAM
Pfam:NAD_binding_10	6	209	6.8e-11	PFAM
Pfam:Epimerase	6	212	8.5e-27	PFAM
Pfam:3Beta_HSD	7	213	6.7e-84	PFAM
Pfam:NAD_binding_4	8	207	1.2e-20	PFAM

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196741

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,311,619 (GRCm39)	D1930N	probably benign	Het
Adam8	A	G	7: 139,564,720 (GRCm39)	L667S	probably damaging	Het
Adcy4	A	T	14: 56,016,500 (GRCm39)	I317N	probably damaging	Het
Agpat3	A	G	10: 78,120,872 (GRCm39)	F102S	probably damaging	Het
Apbb2	A	T	5: 66,522,325 (GRCm39)	W443R	probably damaging	Het
BC049715	T	A	6: 136,817,229 (GRCm39)	Y156*	probably null	Het
Bpifc	C	T	10: 85,813,576 (GRCm39)	V323I	probably benign	Het
Camp	T	G	9: 109,676,577 (GRCm39)	I149L	probably benign	Het
Cfap20dc	T	G	14: 8,473,414 (GRCm38)		probably null	Het
Cibar2	A	G	8: 120,898,858 (GRCm39)	I94T	possibly damaging	Het
Cnih1	A	G	14: 47,025,634 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,948,323 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,724 (GRCm39)	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084 (GRCm39)	V442I	probably benign	Het
Fam83g	G	T	11: 61,594,008 (GRCm39)	S514I	probably benign	Het
Fbxo7	A	G	10: 85,864,969 (GRCm39)	N93D	probably benign	Het
Fgf20	G	T	8: 40,734,153 (GRCm39)	S76*	probably null	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Fxr1	G	A	3: 34,100,401 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,798,195 (GRCm39)	L800H	probably damaging	Het
Gpn3	T	A	5: 122,512,022 (GRCm39)	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072 (GRCm39)	M743V	probably damaging	Het
Hira	A	G	16: 18,729,457 (GRCm39)	N109D	probably damaging	Het
Hsf2	T	G	10: 57,387,591 (GRCm39)	S370A	probably benign	Het
Htt	T	A	5: 35,028,103 (GRCm39)	D1786E	probably benign	Het
Ifit1bl2	T	A	19: 34,597,534 (GRCm39)	R27S	possibly damaging	Het
Il17rb	G	A	14: 29,724,928 (GRCm39)	A186V	probably benign	Het
Irak4	G	T	15: 94,449,691 (GRCm39)	E57*	probably null	Het
Kcnh2	T	A	5: 24,536,921 (GRCm39)	H221L	probably benign	Het
Kdm2b	T	C	5: 123,016,687 (GRCm39)	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,141,303 (GRCm39)	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,704,514 (GRCm39)	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,773,910 (GRCm39)	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,284,106 (GRCm39)	N52S	possibly damaging	Het
Lhfpl6	T	C	3: 53,167,935 (GRCm39)	Y170H	probably damaging	Het
Lpin2	A	G	17: 71,539,243 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,846,848 (GRCm39)	I872T	probably benign	Het
Lrit3	T	C	3: 129,582,412 (GRCm39)	E525G	probably damaging	Het
Lrp1	T	C	10: 127,425,453 (GRCm39)	T726A	probably benign	Het
Mep1a	A	T	17: 43,813,283 (GRCm39)	N46K	probably damaging	Het
Muc16	C	A	9: 18,490,613 (GRCm39)		probably null	Het
N4bp1	A	C	8: 87,579,794 (GRCm39)	N669K	possibly damaging	Het
Nelfcd	A	G	2: 174,257,739 (GRCm39)	D26G	probably benign	Het
Neu4	G	A	1: 93,952,873 (GRCm39)	S414N	probably damaging	Het
Nudt9	A	G	5: 104,212,935 (GRCm39)	D336G	probably benign	Het
Obscn	C	A	11: 58,954,509 (GRCm39)	G3691V	possibly damaging	Het
Or4c52	A	C	2: 89,845,393 (GRCm39)	I40L	possibly damaging	Het
Or5t17	A	G	2: 86,832,364 (GRCm39)	N17S	probably damaging	Het
Pdgfd	T	A	9: 6,288,627 (GRCm39)	S94T	probably benign	Het
Picalm	A	G	7: 89,826,770 (GRCm39)	H290R	probably benign	Het
Pou2f3	A	T	9: 43,050,634 (GRCm39)	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,050,635 (GRCm39)	L242M	probably damaging	Het
Prkd3	C	T	17: 79,289,360 (GRCm39)	G187D	probably damaging	Het
Pwp1	A	G	10: 85,710,326 (GRCm39)	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,184,129 (GRCm39)	L1626P	probably damaging	Het
Resf1	T	C	6: 149,228,555 (GRCm39)	S534P	probably damaging	Het
Rin2	A	G	2: 145,702,939 (GRCm39)	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,995,832 (GRCm39)	T71A	probably benign	Het
Senp7	T	C	16: 55,982,738 (GRCm39)	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,167,703 (GRCm39)	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 24,006,377 (GRCm39)	S468G	probably benign	Het
Slc4a10	A	G	2: 62,112,310 (GRCm39)	N697S	probably benign	Het
Spint1	T	A	2: 119,075,759 (GRCm39)	V194E	possibly damaging	Het
Sptlc2	A	T	12: 87,434,905 (GRCm39)	M14K	probably benign	Het
Stard9	A	G	2: 120,531,608 (GRCm39)	K2622E	probably benign	Het
Tbc1d5	T	C	17: 51,089,338 (GRCm39)	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,559,190 (GRCm39)	C261S	probably benign	Het
Tmem150b	A	T	7: 4,727,373 (GRCm39)	I44N	probably benign	Het
Ttn	A	G	2: 76,608,502 (GRCm39)	L17807P	probably damaging	Het
Vcan	G	A	13: 89,873,492 (GRCm39)	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,441,291 (GRCm39)	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,212 (GRCm39)	S761G	probably benign	Het
Wdr11	A	T	7: 129,200,830 (GRCm39)	K34*	probably null	Het
Zfp120	A	T	2: 149,959,964 (GRCm39)	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253 (GRCm39)	P740A	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
R6348:Hsd3b3	UTSW	3	98,663,265 (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'- CAAGTCTGCATAAAGAGCTACAGG -3'
(R):5'- CAACTGTGATCTGCTTCCAGTG -3'

Sequencing Primer
(F):5'- GAGAATTTTTCAGTCCAAACTCTGTC -3'
(R):5'- CCAGTGTTGACCATGCCTG -3'

Posted On

2018-03-15