Mutagenetix > Incidental Mutation

Incidental Mutation 'R5091:Selenon'

387745

Institutional Source

Beutler Lab

Gene Symbol

Selenon

Ensembl Gene

ENSMUSG00000050989

Gene Name

selenoprotein N

Synonyms

Sepn1, 1110019I12Rik

MMRRC Submission

042680-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5091 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

134265203-134279477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134275284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 138 (K138R)

Ref Sequence

ENSEMBL: ENSMUSP00000060026 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060435
AA Change: K138R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060026
Gene: ENSMUSG00000050989
AA Change: K138R

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

0.0806

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,701,057 (GRCm39)	S174P	probably damaging	Het
4931414P19Rik	T	C	14: 54,823,168 (GRCm39)	E343G	probably damaging	Het
Abca14	T	C	7: 119,851,497 (GRCm39)	V825A	probably damaging	Het
Abca8b	G	T	11: 109,827,210 (GRCm39)	T1466K	possibly damaging	Het
Adcy8	A	G	15: 64,678,553 (GRCm39)	S467P	probably damaging	Het
Agbl4	T	C	4: 110,976,237 (GRCm39)	V198A	possibly damaging	Het
Agpat4	A	G	17: 12,417,699 (GRCm39)	K80R	probably benign	Het
Akap8	T	C	17: 32,535,208 (GRCm39)	T269A	probably benign	Het
Ankhd1	A	T	18: 36,758,080 (GRCm39)	I925F	possibly damaging	Het
Aste1	A	G	9: 105,282,203 (GRCm39)	Y57C	probably damaging	Het
Axdnd1	A	G	1: 156,247,980 (GRCm39)	S7P	possibly damaging	Het
BC051019	T	A	7: 109,319,789 (GRCm39)	R91S	probably null	Het
Cavin2	C	A	1: 51,340,398 (GRCm39)	N358K	probably benign	Het
Cd2	T	C	3: 101,190,355 (GRCm39)	N196S	probably benign	Het
Clca3a1	C	T	3: 144,436,483 (GRCm39)	V867I	probably benign	Het
Col6a4	T	A	9: 105,952,262 (GRCm39)	K545N	probably damaging	Het
Cps1	T	A	1: 67,268,679 (GRCm39)		probably null	Het
Cyp2c65	A	T	19: 39,076,009 (GRCm39)		probably null	Het
Dcaf6	T	C	1: 165,157,572 (GRCm39)	D856G	possibly damaging	Het
Epcam	T	C	17: 87,949,580 (GRCm39)	I181T	probably damaging	Het
Esrp2	A	G	8: 106,859,061 (GRCm39)	S562P	probably damaging	Het
Fcgbpl1	A	C	7: 27,856,383 (GRCm39)	I2057L	probably benign	Het
Ffar4	A	G	19: 38,085,627 (GRCm39)	D18G	probably benign	Het
Gen1	C	T	12: 11,296,347 (GRCm39)	V337I	probably damaging	Het
Gimap8	C	T	6: 48,633,581 (GRCm39)	P467S	possibly damaging	Het
Gnl3	T	A	14: 30,738,803 (GRCm39)	H82L	possibly damaging	Het
Grid2	T	C	6: 64,053,862 (GRCm39)	S354P	probably benign	Het
Ighmbp2	T	A	19: 3,315,084 (GRCm39)	T779S	possibly damaging	Het
Ints15	C	T	5: 143,293,443 (GRCm39)	E345K	possibly damaging	Het
Kif19a	C	A	11: 114,673,923 (GRCm39)	T348N	probably damaging	Het
Lrrc15	T	A	16: 30,092,172 (GRCm39)	N389I	probably damaging	Het
Mrps26	A	G	2: 130,405,886 (GRCm39)	Y63C	probably damaging	Het
Myd88	C	A	9: 119,166,889 (GRCm39)	V223F	possibly damaging	Het
Nox4	T	A	7: 87,025,450 (GRCm39)	W526R	probably damaging	Het
Nrg2	A	T	18: 36,185,838 (GRCm39)	N300K	probably damaging	Het
Nsmf	T	C	2: 24,950,464 (GRCm39)		probably benign	Het
Patl2	A	C	2: 121,954,283 (GRCm39)	H429Q	probably benign	Het
Pcdhb12	A	T	18: 37,568,907 (GRCm39)	K18*	probably null	Het
Peg10	T	A	6: 4,754,511 (GRCm39)	D97E	probably benign	Het
Runx1t1	C	T	4: 13,846,830 (GRCm39)	Q205*	probably null	Het
Slc13a3	T	C	2: 165,262,000 (GRCm39)	E369G	probably benign	Het
Sorcs1	A	G	19: 50,248,190 (GRCm39)		probably null	Het
Sptbn4	A	T	7: 27,068,816 (GRCm39)	M499K	probably damaging	Het
Sra1	A	T	18: 36,803,012 (GRCm39)		probably benign	Het
Stra6	T	C	9: 58,048,429 (GRCm39)	L174P	probably damaging	Het
Syngr1	T	C	15: 80,000,086 (GRCm39)	Y66H	probably damaging	Het
Synpo	G	T	18: 60,735,831 (GRCm39)	S466*	probably null	Het
Tenm3	T	A	8: 48,795,343 (GRCm39)	M595L	probably benign	Het
Tnks	T	C	8: 35,308,963 (GRCm39)	T1099A	probably benign	Het
Tram1l1	G	T	3: 124,115,400 (GRCm39)	V187F	possibly damaging	Het
Trappc11	T	C	8: 47,965,639 (GRCm39)	E529G	probably benign	Het
Usp17la	T	C	7: 104,510,139 (GRCm39)	V248A	probably damaging	Het
Virma	T	C	4: 11,519,392 (GRCm39)	Y880H	probably benign	Het
Vmn1r214	C	T	13: 23,219,571 (GRCm39)	T355I	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,205 (GRCm39)	K784R	possibly damaging	Het
Wrap53	C	T	11: 69,453,273 (GRCm39)	W389*	probably null	Het
Zfp748	A	G	13: 67,689,638 (GRCm39)	S541P	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
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
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'- ACGTAGGCTCCTTCTCTAGC -3'
(R):5'- TCCTGAGAGAATTGAGGCTTGG -3'

Sequencing Primer
(F):5'- AGCCTGTCAGCTGTCACC -3'
(R):5'- AGGCTTGGTGTCCAAAGGC -3'

Posted On

2016-06-06