Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Hsd3b3'

565780

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

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98741523-98763127 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 98742357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 217 (K217*)

Ref Sequence

ENSEMBL: ENSMUSP00000088246 (fasta)

Gene Model

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

AlphaFold

P26150

Predicted Effect

probably null
Transcript: ENSMUST00000090743
AA Change: K217*

SMART Domains

Protein: ENSMUSP00000088246
Gene: ENSMUSG00000062410
AA Change: K217*

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
AA Change: K162*

SMART Domains

Protein: ENSMUSP00000091592
Gene: ENSMUSG00000062410
AA Change: K162*

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
AA Change: K162*

SMART Domains

Protein: ENSMUSP00000102632
Gene: ENSMUSG00000062410
AA Change: K162*

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
AA Change: K217*

SMART Domains

Protein: ENSMUSP00000102633
Gene: ENSMUSG00000062410
AA Change: K217*

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

probably benign
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	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
R6348:Hsd3b3	UTSW	3	98755949	splice site	probably null
R7070:Hsd3b3	UTSW	3	98742471	missense	possibly damaging	0.64
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'- ACCACCTGGAATTGAGGCAG -3'
(R):5'- GGTCTGACCCATACCCATACAG -3'

Sequencing Primer
(F):5'- GAAGCCCCACTCCTTGCTCAG -3'
(R):5'- CCATACAGCAAAAAGATGGCTG -3'

Posted On

2019-06-26