Mutagenetix > Incidental Mutation

Incidental Mutation 'R8452:Selenon'

654798

Institutional Source

Beutler Lab

Gene Symbol

Selenon

Ensembl Gene

ENSMUSG00000050989

Gene Name

selenoprotein N

Synonyms

Sepn1, 1110019I12Rik

MMRRC Submission

067903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134265203-134279477 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 134275398 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 null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Actl7b	T	A	4: 56,740,251 (GRCm39)	D369V	probably damaging	Het
Apc	A	G	18: 34,445,804 (GRCm39)	D900G	possibly damaging	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Bud13	A	G	9: 46,199,377 (GRCm39)	N246S	possibly damaging	Het
Cdkal1	G	A	13: 29,538,663 (GRCm39)	P499S	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cenpp	A	G	13: 49,683,887 (GRCm39)		probably null	Het
Cntnap5c	C	T	17: 58,362,687 (GRCm39)	R347W	probably damaging	Het
Cox8b	T	A	7: 140,478,929 (GRCm39)	E62V	probably null	Het
Cyp2t4	G	A	7: 26,857,162 (GRCm39)	A342T	probably benign	Het
Cyp8b1	A	G	9: 121,744,997 (GRCm39)	Y112H	probably damaging	Het
Dlg5	G	T	14: 24,241,261 (GRCm39)	A212D	probably damaging	Het
Dnah7a	T	C	1: 53,466,986 (GRCm39)	E3626G	probably null	Het
Dpys	T	C	15: 39,656,720 (GRCm39)	E449G	possibly damaging	Het
Fam187a	C	A	11: 102,777,400 (GRCm39)	C401*	probably null	Het
Fsip2	A	T	2: 82,814,937 (GRCm39)	I3557L	probably benign	Het
Gm30083	C	T	14: 33,712,279 (GRCm39)		probably null	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
H2bc7	A	G	13: 23,758,219 (GRCm39)	V49A	probably damaging	Het
Ifi213	T	C	1: 173,422,835 (GRCm39)	K10R	possibly damaging	Het
Morc2b	T	C	17: 33,356,476 (GRCm39)	D432G	probably damaging	Het
Mrgpra4	T	A	7: 47,631,425 (GRCm39)	I59F	probably damaging	Het
Mttp	A	T	3: 137,818,374 (GRCm39)	D361E	probably damaging	Het
Mysm1	A	G	4: 94,863,510 (GRCm39)	S28P	probably damaging	Het
Nrdc	T	A	4: 108,876,260 (GRCm39)	V284D	probably damaging	Het
Nrip2	A	T	6: 128,384,957 (GRCm39)	D203V	probably damaging	Het
Oog4	A	T	4: 143,164,047 (GRCm39)	Y495N	probably benign	Het
Or52h1	A	T	7: 103,829,103 (GRCm39)	C171S	probably damaging	Het
Or52n4	A	T	7: 104,293,736 (GRCm39)	V281E	possibly damaging	Het
Or7g19	T	A	9: 18,856,459 (GRCm39)	L172M	possibly damaging	Het
Or8c11	A	T	9: 38,289,647 (GRCm39)	M151L	probably benign	Het
Pacrg	T	A	17: 10,795,523 (GRCm39)	R146*	probably null	Het
Pcdh18	A	T	3: 49,699,624 (GRCm39)	M946K	possibly damaging	Het
Pign	A	G	1: 105,575,917 (GRCm39)	I241T	probably benign	Het
Pik3cg	A	G	12: 32,243,639 (GRCm39)	I944T	probably damaging	Het
Ppp2r5c	T	A	12: 110,510,511 (GRCm39)	F99L	probably benign	Het
Prex1	A	T	2: 166,431,493 (GRCm39)	N756K	probably benign	Het
Prex2	A	T	1: 11,355,363 (GRCm39)	M1555L	probably benign	Het
Prex2	T	G	1: 11,355,364 (GRCm39)	M1555R	probably benign	Het
Prl3c1	T	A	13: 27,386,385 (GRCm39)	D123E	probably benign	Het
Prr22	G	A	17: 57,078,311 (GRCm39)	G155R	probably damaging	Het
Rev3l	A	G	10: 39,698,899 (GRCm39)	D1132G	probably damaging	Het
Rnf180	A	T	13: 105,318,056 (GRCm39)	F452Y	probably damaging	Het
Scn4b	A	T	9: 45,058,039 (GRCm39)	I44F	possibly damaging	Het
Sirpb1b	T	A	3: 15,607,410 (GRCm39)	I291L	probably benign	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Tbc1d8	G	T	1: 39,444,438 (GRCm39)	R174S	probably damaging	Het
Tenm2	A	G	11: 35,914,428 (GRCm39)	F2370L	probably damaging	Het
Tfec	T	A	6: 16,844,202 (GRCm39)	H115L	probably damaging	Het
Tnxb	A	T	17: 34,908,381 (GRCm39)	T1345S	probably damaging	Het
Ttn	T	A	2: 76,568,831 (GRCm39)	N27354I	probably damaging	Het
Unc13c	A	G	9: 73,838,290 (GRCm39)	Y854H	probably damaging	Het
Utrn	A	T	10: 12,689,253 (GRCm39)	W11R	probably benign	Het
Vmn2r26	A	G	6: 124,016,577 (GRCm39)	Q347R	probably benign	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
R8301:Selenon	UTSW	4	134,278,725 (GRCm39)	splice site	probably benign
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'- TACACAGGCCTTGTCACCAG -3'
(R):5'- CAGAAGTGGATCATACGTAACTGATC -3'

Sequencing Primer
(F):5'- AGGCCTTGTCACCAGTGGTC -3'
(R):5'- CCCTTGCCGAGTATGTGACAATG -3'

Posted On

2020-10-20