Mutagenetix > Incidental Mutation

Incidental Mutation 'R8301:Selenon'

656514

Institutional Source

Beutler Lab

Gene Symbol

Selenon

Ensembl Gene

ENSMUSG00000050989

Gene Name

selenoprotein N

Synonyms

Sepn1, 1110019I12Rik

MMRRC Submission

067789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134265203-134279477 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 134278725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060435]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000060435

SMART Domains

Protein: ENSMUSP00000060026
Gene: ENSMUSG00000050989

Domain	Start	End	E-Value	Type
low complexity region	18	65	N/A	INTRINSIC
SCOP:d1k94a_	76	113	4e-3	SMART
low complexity region	160	179	N/A	INTRINSIC
low complexity region	526	532	N/A	INTRINSIC
low complexity region	544	555	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in the orthologous gene in human are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. Knockout mice deleted for this gene exhibit abnormal lung development. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit satellite cell loss and impaired muscle regeneration. Mice homozygous for a different knock-out allele exhibit subtle core lesions in skeletal muscle after induced oxidative stress and abnormal lung development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,120,364 (GRCm39)	I374F	probably benign	Het
Ak9	G	A	10: 41,300,712 (GRCm39)	V1108I		Het
Aldh16a1	C	T	7: 44,791,406 (GRCm39)	A790T	possibly damaging	Het
Anks1	A	T	17: 28,278,554 (GRCm39)		probably benign	Het
Antxr2	T	G	5: 98,125,538 (GRCm39)	T240P	probably benign	Het
Arfgef1	A	T	1: 10,250,058 (GRCm39)	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,528,866 (GRCm39)	T1591A	probably benign	Het
Aurka	A	G	2: 172,198,850 (GRCm39)	S374P	probably damaging	Het
Bccip	T	C	7: 133,320,933 (GRCm39)	S236P	probably benign	Het
Cacna1s	T	A	1: 136,001,179 (GRCm39)		probably benign	Het
Calm1	A	G	12: 100,171,944 (GRCm39)	E132G	probably benign	Het
Casz1	A	G	4: 149,030,500 (GRCm39)	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659 (GRCm39)	D413G	probably damaging	Het
Cfap57	A	G	4: 118,450,271 (GRCm39)	I617T	possibly damaging	Het
Creb5	A	G	6: 53,658,018 (GRCm39)	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,299,354 (GRCm39)	S337A	unknown	Het
Ddx60	A	G	8: 62,453,631 (GRCm39)	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,873,577 (GRCm39)	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,396,407 (GRCm39)		probably benign	Het
Ebf2	A	G	14: 67,476,431 (GRCm39)	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,030,106 (GRCm39)	M136L	probably benign	Het
Enpp2	A	G	15: 54,714,803 (GRCm39)	F598S	probably benign	Het
Extl3	A	C	14: 65,313,733 (GRCm39)	L483R	probably damaging	Het
Gcat	T	C	15: 78,920,089 (GRCm39)	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,381,442 (GRCm39)	D344G	probably damaging	Het
Ighm	C	T	12: 113,385,165 (GRCm39)	G265D		Het
Igsf9b	T	G	9: 27,246,035 (GRCm39)		probably benign	Het
Ints6	A	G	14: 62,939,902 (GRCm39)	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120 (GRCm39)	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,818,659 (GRCm39)		probably null	Het
Kalrn	G	T	16: 34,177,470 (GRCm39)	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,451,770 (GRCm39)	N46Y	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naa50	A	G	16: 43,977,494 (GRCm39)	N74S	probably benign	Het
Neb	T	C	2: 52,178,847 (GRCm39)	N1303S	probably benign	Het
Nfs1	A	T	2: 155,976,413 (GRCm39)	C160*	probably null	Het
Or11g7	T	A	14: 50,691,021 (GRCm39)	S171T	probably benign	Het
Or52s1b	T	G	7: 102,822,280 (GRCm39)	K188T	probably damaging	Het
Or5p52	A	G	7: 107,502,833 (GRCm39)	K303R	probably benign	Het
Or6c76	T	C	10: 129,612,709 (GRCm39)	S309P	probably benign	Het
Orm2	T	C	4: 63,281,263 (GRCm39)	F67S	possibly damaging	Het
Pex5	A	G	6: 124,382,142 (GRCm39)	S180P	probably benign	Het
Phf14	G	C	6: 11,992,061 (GRCm39)	G746R	probably damaging	Het
Pkm	T	A	9: 59,575,914 (GRCm39)	V110E	probably damaging	Het
Plekha6	T	G	1: 133,192,425 (GRCm39)	N78K	probably damaging	Het
Plxna2	G	A	1: 194,472,483 (GRCm39)	V1076I	probably benign	Het
Polq	C	A	16: 36,882,181 (GRCm39)	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,994,895 (GRCm39)	T256A	probably benign	Het
Prkch	C	T	12: 73,749,538 (GRCm39)	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,383,168 (GRCm39)		probably benign	Het
Prl7b1	A	C	13: 27,786,755 (GRCm39)	V158G	possibly damaging	Het
Prss22	T	C	17: 24,212,955 (GRCm39)	S261G	probably damaging	Het
Psd	T	C	19: 46,309,541 (GRCm39)		probably benign	Het
Psg18	A	T	7: 18,087,302 (GRCm39)	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,729,993 (GRCm39)	R218S	probably damaging	Het
Rnf213	T	A	11: 119,325,568 (GRCm39)	S1491T		Het
Rsf1	T	C	7: 97,311,132 (GRCm39)	S621P		Het
Runx1	C	A	16: 92,402,544 (GRCm39)	*466L	probably null	Het
Samd4	A	G	14: 47,254,135 (GRCm39)	I200V	probably benign	Het
Sdsl	C	T	5: 120,597,584 (GRCm39)	C241Y	probably benign	Het
Setx	C	T	2: 29,035,702 (GRCm39)	P729L	possibly damaging	Het
Sf1	C	T	19: 6,418,396 (GRCm39)	Q55*	probably null	Het
Slc12a5	A	T	2: 164,835,611 (GRCm39)	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,282,286 (GRCm39)	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,220,996 (GRCm39)	A324S	probably benign	Het
Tmem217	A	G	17: 29,745,466 (GRCm39)	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,779,115 (GRCm39)	I61N	probably benign	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trhde	T	A	10: 114,322,911 (GRCm39)	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568 (GRCm39)	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,507,510 (GRCm39)	C601S	probably benign	Het
Zfp873	C	A	10: 81,896,713 (GRCm39)	H481Q	probably damaging	Het

Other mutations in Selenon

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Selenon	APN	4	134,267,037 (GRCm39)	unclassified	probably benign
IGL02832:Selenon	APN	4	134,268,219 (GRCm39)	missense	probably damaging	1.00
IGL03015:Selenon	APN	4	134,272,829 (GRCm39)	missense	probably benign	0.43
G1Funyon:Selenon	UTSW	4	134,278,725 (GRCm39)	splice site	probably benign
I0000:Selenon	UTSW	4	134,270,012 (GRCm39)	splice site	probably benign
R1400:Selenon	UTSW	4	134,278,829 (GRCm39)	missense	probably benign	0.00
R1436:Selenon	UTSW	4	134,267,997 (GRCm39)	missense	probably damaging	1.00
R1932:Selenon	UTSW	4	134,271,929 (GRCm39)	missense	probably damaging	0.99
R2886:Selenon	UTSW	4	134,270,380 (GRCm39)	missense	probably null	1.00
R3884:Selenon	UTSW	4	134,267,081 (GRCm39)	missense	possibly damaging	0.80
R4647:Selenon	UTSW	4	134,272,968 (GRCm39)	missense	probably damaging	1.00
R4721:Selenon	UTSW	4	134,270,387 (GRCm39)	nonsense	probably null
R5091:Selenon	UTSW	4	134,275,284 (GRCm39)	missense	probably damaging	1.00
R5412:Selenon	UTSW	4	134,269,749 (GRCm39)	missense	probably benign	0.00
R5553:Selenon	UTSW	4	134,268,228 (GRCm39)	missense	probably damaging	1.00
R7048:Selenon	UTSW	4	134,270,154 (GRCm39)	missense	probably benign	0.04
R7222:Selenon	UTSW	4	134,275,288 (GRCm39)	missense	possibly damaging	0.60
R7470:Selenon	UTSW	4	134,267,061 (GRCm39)	missense	probably benign	0.29
R8452:Selenon	UTSW	4	134,275,398 (GRCm39)	splice site	probably null
R8753:Selenon	UTSW	4	134,275,330 (GRCm39)	missense	probably benign	0.21
R8921:Selenon	UTSW	4	134,268,153 (GRCm39)	missense	possibly damaging	0.92
R9570:Selenon	UTSW	4	134,270,055 (GRCm39)	missense	probably benign	0.01
R9785:Selenon	UTSW	4	134,270,374 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGCATCCTCTTTCAAGG -3'
(R):5'- CAAATGGGCTGGCAAGTGTG -3'

Sequencing Primer
(F):5'- CTCTTTCAAGGCTTCAATTTGAGG -3'
(R):5'- GCCACTGTAGCAGGAAGC -3'

Posted On

2020-12-09