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

134537892-134552166 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 134551414 bp (GRCm38)

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: 87,972,505 (GRCm38)	I374F	probably benign	Het
Ak9	G	A	10: 41,424,716 (GRCm38)	V1108I		Het
Aldh16a1	C	T	7: 45,141,982 (GRCm38)	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580 (GRCm38)		probably benign	Het
Antxr2	T	G	5: 97,977,679 (GRCm38)	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833 (GRCm38)	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659 (GRCm38)	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930 (GRCm38)	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204 (GRCm38)	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441 (GRCm38)		probably benign	Het
Calm1	A	G	12: 100,205,685 (GRCm38)	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043 (GRCm38)	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659 (GRCm38)	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074 (GRCm38)	I617T	possibly damaging	Het
Creb5	A	G	6: 53,681,033 (GRCm38)	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991 (GRCm38)	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597 (GRCm38)	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,823,577 (GRCm38)	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,485,111 (GRCm38)		probably benign	Het
Ebf2	A	G	14: 67,238,982 (GRCm38)	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,172,909 (GRCm38)	M136L	probably benign	Het
Enpp2	A	G	15: 54,851,407 (GRCm38)	F598S	probably benign	Het
Extl3	A	C	14: 65,076,284 (GRCm38)	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889 (GRCm38)	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346 (GRCm38)	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545 (GRCm38)	G265D		Het
Igsf9b	T	G	9: 27,334,739 (GRCm38)		probably benign	Het
Ints6	A	G	14: 62,702,453 (GRCm38)	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120 (GRCm38)	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151 (GRCm38)		probably null	Het
Kalrn	G	T	16: 34,357,100 (GRCm38)	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488 (GRCm38)	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131 (GRCm38)	N74S	probably benign	Het
Neb	T	C	2: 52,288,835 (GRCm38)	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493 (GRCm38)	C160*	probably null	Het
Olfr472	A	G	7: 107,903,626 (GRCm38)	K303R	probably benign	Het
Olfr591	T	G	7: 103,173,073 (GRCm38)	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564 (GRCm38)	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840 (GRCm38)	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026 (GRCm38)	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183 (GRCm38)	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062 (GRCm38)	G746R	probably damaging	Het
Pkm	T	A	9: 59,668,631 (GRCm38)	V110E	probably damaging	Het
Plekha6	T	G	1: 133,264,687 (GRCm38)	N78K	probably damaging	Het
Plxna2	G	A	1: 194,790,175 (GRCm38)	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819 (GRCm38)	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895 (GRCm38)	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764 (GRCm38)	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185 (GRCm38)		probably benign	Het
Prl7b1	A	C	13: 27,602,772 (GRCm38)	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981 (GRCm38)	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102 (GRCm38)		probably benign	Het
Psg18	A	T	7: 18,353,377 (GRCm38)	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794 (GRCm38)	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742 (GRCm38)	S1491T		Het
Rsf1	T	C	7: 97,661,925 (GRCm38)	S621P		Het
Runx1	C	A	16: 92,605,656 (GRCm38)	*466L	probably null	Het
Samd4	A	G	14: 47,016,678 (GRCm38)	I200V	probably benign	Het
Sdsl	C	T	5: 120,459,519 (GRCm38)	C241Y	probably benign	Het
Setx	C	T	2: 29,145,690 (GRCm38)	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366 (GRCm38)	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691 (GRCm38)	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,332,286 (GRCm38)	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,181,837 (GRCm38)	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492 (GRCm38)	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878 (GRCm38)	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567 (GRCm38)	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006 (GRCm38)	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568 (GRCm38)	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302 (GRCm38)	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879 (GRCm38)	H481Q	probably damaging	Het

Other mutations in Selenon

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Selenon	APN	4	134,539,726 (GRCm38)	unclassified	probably benign
IGL02832:Selenon	APN	4	134,540,908 (GRCm38)	missense	probably damaging	1.00
IGL03015:Selenon	APN	4	134,545,518 (GRCm38)	missense	probably benign	0.43
G1Funyon:Selenon	UTSW	4	134,551,414 (GRCm38)	splice site	probably benign
I0000:Selenon	UTSW	4	134,542,701 (GRCm38)	splice site	probably benign
R1400:Selenon	UTSW	4	134,551,518 (GRCm38)	missense	probably benign	0.00
R1436:Selenon	UTSW	4	134,540,686 (GRCm38)	missense	probably damaging	1.00
R1932:Selenon	UTSW	4	134,544,618 (GRCm38)	missense	probably damaging	0.99
R2886:Selenon	UTSW	4	134,543,069 (GRCm38)	missense	probably null	1.00
R3884:Selenon	UTSW	4	134,539,770 (GRCm38)	missense	possibly damaging	0.80
R4647:Selenon	UTSW	4	134,545,657 (GRCm38)	missense	probably damaging	1.00
R4721:Selenon	UTSW	4	134,543,076 (GRCm38)	nonsense	probably null
R5091:Selenon	UTSW	4	134,547,973 (GRCm38)	missense	probably damaging	1.00
R5412:Selenon	UTSW	4	134,542,438 (GRCm38)	missense	probably benign	0.00
R5553:Selenon	UTSW	4	134,540,917 (GRCm38)	missense	probably damaging	1.00
R7048:Selenon	UTSW	4	134,542,843 (GRCm38)	missense	probably benign	0.04
R7222:Selenon	UTSW	4	134,547,977 (GRCm38)	missense	possibly damaging	0.60
R7470:Selenon	UTSW	4	134,539,750 (GRCm38)	missense	probably benign	0.29
R8452:Selenon	UTSW	4	134,548,087 (GRCm38)	splice site	probably null
R8753:Selenon	UTSW	4	134,548,019 (GRCm38)	missense	probably benign	0.21
R8921:Selenon	UTSW	4	134,540,842 (GRCm38)	missense	possibly damaging	0.92
R9570:Selenon	UTSW	4	134,542,744 (GRCm38)	missense	probably benign	0.01
R9785:Selenon	UTSW	4	134,543,063 (GRCm38)	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