Mutagenetix > Incidental Mutation

Incidental Mutation 'R9445:Hsd3b2'

713862

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: 0.064) question?

Stock #

R9445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98618423-98631859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98619051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 298 (L298Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102635 (fasta)

Gene Model

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

AlphaFold

P26149

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107021
AA Change: L298Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102635
Gene: ENSMUSG00000063730
AA Change: L298Q

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

possibly damaging
Transcript: ENSMUST00000107022
AA Change: L298Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102636
Gene: ENSMUSG00000063730
AA Change: L298Q

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

possibly damaging
Transcript: ENSMUST00000177651
AA Change: L298Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136533
Gene: ENSMUSG00000063730
AA Change: L298Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	A	14: 41,818,174 (GRCm39)	H23Q	possibly damaging	Het
Abca14	T	C	7: 119,877,691 (GRCm39)	S1069P	probably benign	Het
Abo	A	G	2: 26,733,720 (GRCm39)	W160R	probably damaging	Het
Adgrb1	A	T	15: 74,435,807 (GRCm39)		probably benign	Het
Ahnak2	T	C	12: 112,745,978 (GRCm39)	Q1624R		Het
Amy2a1	T	A	3: 113,325,324 (GRCm39)	N90I	possibly damaging	Het
Bod1l	C	T	5: 41,974,619 (GRCm39)	V2232I	probably benign	Het
Brsk2	T	A	7: 141,538,149 (GRCm39)	H98Q	probably damaging	Het
Caskin2	C	T	11: 115,694,576 (GRCm39)	V342I	probably damaging	Het
Ccdc13	T	C	9: 121,627,156 (GRCm39)	N707S	probably benign	Het
Cdv3	T	C	9: 103,241,240 (GRCm39)	E109G	probably damaging	Het
Coro2a	C	T	4: 46,540,558 (GRCm39)	E454K	probably benign	Het
Cpq	A	T	15: 33,213,391 (GRCm39)	I137F	possibly damaging	Het
Ctsj	G	A	13: 61,151,838 (GRCm39)	T73I	possibly damaging	Het
Dchs2	A	G	3: 83,146,284 (GRCm39)	D710G	probably damaging	Het
Drd4	T	C	7: 140,872,162 (GRCm39)	V71A	probably damaging	Het
Eef2k	T	C	7: 120,457,694 (GRCm39)	C18R	probably benign	Het
Ercc4	C	A	16: 12,945,474 (GRCm39)	D386E	probably benign	Het
F2rl2	A	C	13: 95,837,622 (GRCm39)	L222F	probably benign	Het
Fkbp4	T	C	6: 128,413,580 (GRCm39)	D68G	probably damaging	Het
Fsip2	A	T	2: 82,806,132 (GRCm39)	D817V	probably damaging	Het
Gm19410	G	A	8: 36,239,652 (GRCm39)	R116H	possibly damaging	Het
Gm9376	A	T	14: 118,504,502 (GRCm39)		probably benign	Het
Golim4	A	T	3: 75,813,775 (GRCm39)	F150I	probably damaging	Het
Gtpbp2	G	A	17: 46,478,757 (GRCm39)	V525M	probably damaging	Het
Hook1	A	G	4: 95,901,499 (GRCm39)	N486D	probably benign	Het
Hook1	A	G	4: 95,903,049 (GRCm39)	S513G	probably benign	Het
Hoxd9	A	T	2: 74,528,415 (GRCm39)	T6S	probably damaging	Het
Idh3b	A	C	2: 130,123,572 (GRCm39)	S172A	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Ighv5-17	T	A	12: 113,822,858 (GRCm39)	T88S	possibly damaging	Het
Il16	T	A	7: 83,337,380 (GRCm39)	K112*	probably null	Het
Irag1	A	T	7: 110,545,161 (GRCm39)	I45N	possibly damaging	Het
Kalrn	T	A	16: 33,805,600 (GRCm39)	I2646F	probably benign	Het
Kcnt1	G	T	2: 25,767,959 (GRCm39)	G23C	probably damaging	Het
Kirrel2	T	A	7: 30,150,260 (GRCm39)	I523F	probably damaging	Het
Lrrc3b	A	T	14: 15,358,552 (GRCm38)	L18H	probably damaging	Het
Med13l	T	A	5: 118,862,214 (GRCm39)	S386T	probably benign	Het
Mettl6	C	T	14: 31,209,527 (GRCm39)		probably null	Het
Mocs2	C	T	13: 114,961,879 (GRCm39)	A120V	possibly damaging	Het
Mrpl39	T	C	16: 84,531,346 (GRCm39)	T74A	probably benign	Het
Myh2	T	C	11: 67,069,754 (GRCm39)	F367L	probably damaging	Het
N4bp1	G	A	8: 87,587,238 (GRCm39)	Q567*	probably null	Het
Naf1	A	G	8: 67,336,097 (GRCm39)	I341M	probably damaging	Het
Ncoa6	A	T	2: 155,250,063 (GRCm39)	N1080K	probably benign	Het
Nell1	C	A	7: 49,632,474 (GRCm39)	L36I	possibly damaging	Het
Nrxn2	A	G	19: 6,522,448 (GRCm39)	D446G	probably damaging	Het
Nrxn3	T	A	12: 89,499,737 (GRCm39)	C709*	probably null	Het
Or13p4	T	G	4: 118,547,416 (GRCm39)	T78P	probably damaging	Het
Or2ag17	A	G	7: 106,389,464 (GRCm39)	V248A	probably damaging	Het
Or2n1	A	C	17: 38,486,694 (GRCm39)	T240P	probably damaging	Het
Or2t26	C	G	11: 49,039,879 (GRCm39)	A265G	probably benign	Het
Or8g19	T	A	9: 39,055,766 (GRCm39)	Y123*	probably null	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pbx3	A	G	2: 34,114,555 (GRCm39)		probably benign	Het
Pcnx1	T	C	12: 81,964,981 (GRCm39)	S383P	probably damaging	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Pnliprp1	A	G	19: 58,720,628 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,343,795 (GRCm39)	L365P	probably damaging	Het
Prl8a9	C	T	13: 27,748,498 (GRCm39)		probably null	Het
Qdpr	T	C	5: 45,596,669 (GRCm39)	N165S	probably benign	Het
Rabl2	A	G	15: 89,468,148 (GRCm39)	F158L	probably damaging	Het
Rrp7a	G	T	15: 83,004,084 (GRCm39)	C117*	probably null	Het
Ryr2	T	C	13: 11,787,463 (GRCm39)	Y970C	probably damaging	Het
Sf3b3	T	C	8: 111,552,774 (GRCm39)	T503A	possibly damaging	Het
Sipa1	T	C	19: 5,704,198 (GRCm39)	E708G	probably damaging	Het
Skor2	T	A	18: 76,948,811 (GRCm39)	S844R	possibly damaging	Het
Slc6a7	C	T	18: 61,138,815 (GRCm39)	C231Y	probably damaging	Het
Smgc	A	T	15: 91,729,665 (GRCm39)	E206D	probably benign	Het
Tanc2	T	C	11: 105,758,290 (GRCm39)	S684P	possibly damaging	Het
Tep1	T	C	14: 51,082,967 (GRCm39)	T1014A	possibly damaging	Het
Tex19.1	A	G	11: 121,038,283 (GRCm39)	S214G	probably benign	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Use1	T	C	8: 71,821,200 (GRCm39)	S156P	probably benign	Het
Znrf1	G	A	8: 112,335,954 (GRCm39)	V152M	probably 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
R6675:Hsd3b2	UTSW	3	98,620,788 (GRCm39)	missense	probably benign	0.02
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
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'- TGTGCTGCTCCACTAGTGTC -3'
(R):5'- TAGCCTGGGCACACATTCTG -3'

Sequencing Primer
(F):5'- TAGTGTCCCGATCCACTCTGAGG -3'
(R):5'- GGCACACATTCTGGCTGC -3'

Posted On

2022-06-15