Incidental Mutation 'IGL03280:Selenop'
ID415576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selenop
Ensembl Gene ENSMUSG00000064373
Gene Nameselenoprotein P
Synonymsselp, Se-P, D15Ucla1, Sepp1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.403) question?
Stock #IGL03280
Quality Score
Status
Chromosome15
Chromosomal Location3268547-3280508 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 3280622 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082424] [ENSMUST00000159158] [ENSMUST00000159216] [ENSMUST00000160311] [ENSMUST00000160787] [ENSMUST00000160930] [ENSMUST00000165386] [ENSMUST00000226261] [ENSMUST00000228405]
Predicted Effect probably benign
Transcript: ENSMUST00000082424
SMART Domains Protein: ENSMUSP00000081004
Gene: ENSMUSG00000064373

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 76 186 N/A INTRINSIC
coiled coil region 211 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226261
Predicted Effect probably benign
Transcript: ENSMUST00000228405
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb4 T C 6: 5,423,416 S188P probably benign Het
Bbs5 A G 2: 69,666,971 probably benign Het
Ccdc36 T C 9: 108,404,900 S530G possibly damaging Het
Cdh13 G T 8: 119,314,134 G693W probably damaging Het
Cdh7 T A 1: 110,108,768 Y559* probably null Het
Cemip G A 7: 83,987,330 probably benign Het
Crem A G 18: 3,273,415 probably benign Het
Crygf A G 1: 65,928,170 Y151C probably damaging Het
Dcp1b T C 6: 119,180,058 probably benign Het
Fanca A G 8: 123,316,459 probably benign Het
Fkbp15 A C 4: 62,303,267 probably benign Het
Gabrp C T 11: 33,552,616 R416Q probably benign Het
Gm13103 A T 4: 143,851,919 T250S possibly damaging Het
Impg2 T A 16: 56,268,268 Y1052* probably null Het
Isg15 T C 4: 156,199,862 M70V probably benign Het
Krit1 T A 5: 3,811,248 probably benign Het
Lrrn3 T C 12: 41,454,147 D57G probably damaging Het
Macrod1 A G 19: 7,197,572 E309G possibly damaging Het
Notch1 A T 2: 26,477,874 probably benign Het
Nptx1 T C 11: 119,544,729 T254A probably damaging Het
Olfr1121 A T 2: 87,372,123 D197V probably damaging Het
Pigm A G 1: 172,376,853 Y52C probably damaging Het
Rif1 A G 2: 52,112,599 T2022A probably benign Het
Rint1 T A 5: 23,817,078 L646Q probably damaging Het
Rpe65 A T 3: 159,604,341 I84F probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Scnn1a T C 6: 125,342,781 probably benign Het
Siglecf T G 7: 43,355,930 V438G probably benign Het
St8sia4 T A 1: 95,653,774 probably benign Het
Tfeb T C 17: 47,785,937 F43S probably benign Het
Tgm6 A G 2: 130,138,931 Y216C probably damaging Het
Try10 T A 6: 41,354,220 V10E probably benign Het
Ttn A T 2: 76,898,467 C1234* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Usp24 T G 4: 106,380,430 I1095R probably damaging Het
Usp34 C T 11: 23,354,897 H377Y probably damaging Het
Other mutations in Selenop
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01450:Selenop APN 15 3277273 missense probably benign 0.20
IGL01937:Selenop APN 15 3279268 missense probably benign 0.37
R0508:Selenop UTSW 15 3275720 missense probably benign 0.02
R0603:Selenop UTSW 15 3275701 missense probably damaging 1.00
R1567:Selenop UTSW 15 3279698 makesense probably null
R1982:Selenop UTSW 15 3275694 missense probably damaging 1.00
R5107:Selenop UTSW 15 3275593 missense probably damaging 1.00
R6216:Selenop UTSW 15 3279465 missense probably damaging 1.00
R6245:Selenop UTSW 15 3274734 missense probably damaging 1.00
R7420:Selenop UTSW 15 3279570 missense probably damaging 0.96
R7673:Selenop UTSW 15 3274858 missense probably damaging 1.00
Posted On2016-08-02