Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03280:Selenop'

415576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Selenop

Ensembl Gene

ENSMUSG00000064373

Gene Name

selenoprotein P

Synonyms

Sepp1, Se-P, D15Ucla1, selp

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

IGL03280

Quality Score

Status

Chromosome

Chromosomal Location

3300249-3309992 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 3310104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082424] [ENSMUST00000159158] [ENSMUST00000159216] [ENSMUST00000160311] [ENSMUST00000160787] [ENSMUST00000160930] [ENSMUST00000165386] [ENSMUST00000228405] [ENSMUST00000226261]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082424

SMART Domains

Protein: ENSMUSP00000081004
Gene: ENSMUSG00000064373

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:SelP_N	22	248	5.4e-119	PFAM
Pfam:SelP_C	249	380	2.6e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159158

SMART Domains

Protein: ENSMUSP00000125632
Gene: ENSMUSG00000064373

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:SelP_N	22	124	5.4e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159216

SMART Domains

Protein: ENSMUSP00000124305
Gene: ENSMUSG00000064373

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:SelP_N	23	268	9.3e-108	PFAM
Pfam:SelP_C	249	380	4.9e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160311

SMART Domains

Protein: ENSMUSP00000124580
Gene: ENSMUSG00000064373

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:SelP_N	32	110	2.1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160787

SMART Domains

Protein: ENSMUSP00000124852
Gene: ENSMUSG00000064373

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:SelP_N	22	139	1.6e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160930

SMART Domains

Protein: ENSMUSP00000125505
Gene: ENSMUSG00000064373

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:SelP_N	22	177	1.9e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165386

SMART Domains

Protein: ENSMUSP00000129305
Gene: ENSMUSG00000091119

Domain	Start	End	E-Value	Type
coiled coil region	76	186	N/A	INTRINSIC
coiled coil region	211	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228405

Predicted Effect

probably benign
Transcript: ENSMUST00000226261

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in mouse), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. 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. The mRNA for this selenoprotein contains two SECIS elements. Alternatively spliced transcript variants differing in 5' non-coding region have been described for this gene. Expression of these variants varies in different tissues and developmental stages (PMID:23064117). [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygotes for targeted null mutations exhibit ataxia, spasticity, impaired growth, reduced male fertility, and excess mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb4	T	C	6: 5,423,416 (GRCm39)	S188P	probably benign	Het
Bbs5	A	G	2: 69,497,315 (GRCm39)		probably benign	Het
Cdh13	G	T	8: 120,040,873 (GRCm39)	G693W	probably damaging	Het
Cdh20	T	A	1: 110,036,498 (GRCm39)	Y559*	probably null	Het
Cemip	G	A	7: 83,636,538 (GRCm39)		probably benign	Het
Crem	A	G	18: 3,273,415 (GRCm39)		probably benign	Het
Crygf	A	G	1: 65,967,329 (GRCm39)	Y151C	probably damaging	Het
Dcp1b	T	C	6: 119,157,019 (GRCm39)		probably benign	Het
Fanca	A	G	8: 124,043,198 (GRCm39)		probably benign	Het
Fkbp15	A	C	4: 62,221,504 (GRCm39)		probably benign	Het
Gabrp	C	T	11: 33,502,616 (GRCm39)	R416Q	probably benign	Het
Iho1	T	C	9: 108,282,099 (GRCm39)	S530G	possibly damaging	Het
Impg2	T	A	16: 56,088,631 (GRCm39)	Y1052*	probably null	Het
Isg15	T	C	4: 156,284,319 (GRCm39)	M70V	probably benign	Het
Krit1	T	A	5: 3,861,248 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,504,146 (GRCm39)	D57G	probably damaging	Het
Macrod1	A	G	19: 7,174,937 (GRCm39)	E309G	possibly damaging	Het
Notch1	A	T	2: 26,367,886 (GRCm39)		probably benign	Het
Nptx1	T	C	11: 119,435,555 (GRCm39)	T254A	probably damaging	Het
Or12e9	A	T	2: 87,202,467 (GRCm39)	D197V	probably damaging	Het
Pigm	A	G	1: 172,204,420 (GRCm39)	Y52C	probably damaging	Het
Pramel27	A	T	4: 143,578,489 (GRCm39)	T250S	possibly damaging	Het
Rif1	A	G	2: 52,002,611 (GRCm39)	T2022A	probably benign	Het
Rint1	T	A	5: 24,022,076 (GRCm39)	L646Q	probably damaging	Het
Rpe65	A	T	3: 159,309,978 (GRCm39)	I84F	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Scnn1a	T	C	6: 125,319,744 (GRCm39)		probably benign	Het
Siglecf	T	G	7: 43,005,354 (GRCm39)	V438G	probably benign	Het
St8sia4	T	A	1: 95,581,499 (GRCm39)		probably benign	Het
Tfeb	T	C	17: 48,096,862 (GRCm39)	F43S	probably benign	Het
Tgm6	A	G	2: 129,980,851 (GRCm39)	Y216C	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	T	2: 76,728,811 (GRCm39)	C1234*	probably null	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Usp24	T	G	4: 106,237,627 (GRCm39)	I1095R	probably damaging	Het
Usp34	C	T	11: 23,304,897 (GRCm39)	H377Y	probably damaging	Het

Other mutations in Selenop

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01450:Selenop	APN	15	3,306,755 (GRCm39)	missense	probably benign	0.20
IGL01937:Selenop	APN	15	3,308,750 (GRCm39)	missense	probably benign	0.37
R0508:Selenop	UTSW	15	3,305,202 (GRCm39)	missense	probably benign	0.02
R0603:Selenop	UTSW	15	3,305,183 (GRCm39)	missense	probably damaging	1.00
R1567:Selenop	UTSW	15	3,309,180 (GRCm39)	makesense	probably null
R1982:Selenop	UTSW	15	3,305,176 (GRCm39)	missense	probably damaging	1.00
R5107:Selenop	UTSW	15	3,305,075 (GRCm39)	missense	probably damaging	1.00
R6216:Selenop	UTSW	15	3,308,947 (GRCm39)	missense	probably damaging	1.00
R6245:Selenop	UTSW	15	3,304,216 (GRCm39)	missense	probably damaging	1.00
R7420:Selenop	UTSW	15	3,309,052 (GRCm39)	missense	probably damaging	0.96
R7673:Selenop	UTSW	15	3,304,340 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02