Mutagenetix > Incidental Mutation

Incidental Mutation 'R7222:Selenon'

561866

Institutional Source

Beutler Lab

Gene Symbol

Selenon

Ensembl Gene

ENSMUSG00000050989

Gene Name

selenoprotein N

Synonyms

Sepn1, 1110019I12Rik

MMRRC Submission

045294-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7222 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134265203-134279477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134275288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 137 (T137S)

Ref Sequence

ENSEMBL: ENSMUSP00000060026 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060435
AA Change: T137S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000060026
Gene: ENSMUSG00000050989
AA Change: T137S

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

0.0696

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,082,519 (GRCm39)	N1151K	probably benign	Het
Add3	T	C	19: 53,205,277 (GRCm39)	V9A	unknown	Het
Ankar	A	G	1: 72,705,514 (GRCm39)	I832T	probably damaging	Het
Arhgef10l	C	A	4: 140,248,580 (GRCm39)	W785L	probably damaging	Het
Atp7b	G	A	8: 22,512,394 (GRCm39)	Q490*	probably null	Het
Chrna5	A	G	9: 54,905,347 (GRCm39)	D53G	probably benign	Het
Clip1	T	A	5: 123,749,904 (GRCm39)	N993I	probably damaging	Het
Cyp3a59	A	T	5: 146,033,385 (GRCm39)		probably null	Het
Dnah3	T	A	7: 119,670,746 (GRCm39)	N651Y	probably benign	Het
Dop1a	T	C	9: 86,404,929 (GRCm39)		probably null	Het
Eva1c	AGGGTGTCCTGTACGAAGGACTTCCGGG	AGGG	16: 90,701,072 (GRCm39)		probably benign	Het
Flg	T	A	3: 93,195,621 (GRCm39)	S74T	unknown	Het
Fras1	T	C	5: 96,784,045 (GRCm39)	Y850H	probably damaging	Het
Fras1	A	T	5: 96,784,668 (GRCm39)	T884S	probably benign	Het
Fsip2	A	G	2: 82,814,015 (GRCm39)	T3445A	probably benign	Het
Herc1	C	A	9: 66,374,781 (GRCm39)	P3237H	probably damaging	Het
Ifi35	A	G	11: 101,348,341 (GRCm39)	N123S	probably benign	Het
Igkv1-117	A	T	6: 68,098,733 (GRCm39)	D94V	probably damaging	Het
Kif1b	T	C	4: 149,309,614 (GRCm39)	D764G	probably damaging	Het
Lztr1	A	G	16: 17,341,996 (GRCm39)	E657G	possibly damaging	Het
Mmd2	G	T	5: 142,553,682 (GRCm39)	L160I	probably benign	Het
Muc2	A	T	7: 141,290,758 (GRCm39)	T15S		Het
Muc6	T	A	7: 141,214,428 (GRCm39)	H2835L	unknown	Het
Myo1h	G	A	5: 114,493,322 (GRCm39)		probably null	Het
Or10v5	C	A	19: 11,806,021 (GRCm39)	R123L	probably damaging	Het
Or51ag1	A	G	7: 103,155,664 (GRCm39)	V163A	possibly damaging	Het
Or52n4	T	C	7: 104,293,937 (GRCm39)	D214G	probably damaging	Het
Or5d43	T	A	2: 88,104,809 (GRCm39)	M195L	probably benign	Het
Or5p72	A	G	7: 108,021,844 (GRCm39)	D22G	probably benign	Het
Or6c219	A	G	10: 129,781,758 (GRCm39)	Y58H	probably damaging	Het
Or7g32	A	T	9: 19,388,763 (GRCm39)	V261E	probably damaging	Het
Osbpl7	A	G	11: 96,951,364 (GRCm39)	T684A	probably damaging	Het
P2ry14	T	C	3: 59,022,803 (GRCm39)	K219R	probably benign	Het
Pde4d	A	T	13: 109,894,113 (GRCm39)	H156L	probably damaging	Het
Polq	G	T	16: 36,906,995 (GRCm39)	E2319*	probably null	Het
Ranbp3	T	G	17: 57,017,211 (GRCm39)	V409G	probably damaging	Het
Sart3	T	C	5: 113,884,717 (GRCm39)	D629G	probably benign	Het
Setd2	T	A	9: 110,380,530 (GRCm39)	D55E		Het
Slamf8	G	A	1: 172,411,775 (GRCm39)	T240I	possibly damaging	Het
Slc39a10	A	G	1: 46,858,452 (GRCm39)	L615P	possibly damaging	Het
Speer1e	T	A	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Tbce	T	C	13: 14,172,735 (GRCm39)	D505G	probably damaging	Het
Tenm3	C	T	8: 48,754,004 (GRCm39)	G800R	probably damaging	Het
Terf2ip	T	C	8: 112,738,547 (GRCm39)	V145A	possibly damaging	Het
Tmprss7	T	C	16: 45,511,256 (GRCm39)	I41V	probably benign	Het
Traj49	A	T	14: 54,406,160 (GRCm39)	N6I		Het
Trim30a	T	C	7: 104,070,639 (GRCm39)		probably null	Het
Ubr4	T	A	4: 139,190,684 (GRCm39)	S905T	unknown	Het
Unc93a2	A	G	17: 7,643,866 (GRCm39)	S148P	probably damaging	Het
Zfp948	T	A	17: 21,808,102 (GRCm39)	H431Q	probably damaging	Het
Zfyve1	A	G	12: 83,601,779 (GRCm39)	F525L	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
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'- GCATCCTGAGAGAATTGAGGC -3'

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

Posted On

2019-06-26