Incidental Mutation 'IGL02485:Upf2'
ID295402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Upf2
Ensembl Gene ENSMUSG00000043241
Gene NameUPF2 regulator of nonsense transcripts homolog (yeast)
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02485
Quality Score
Status
Chromosome2
Chromosomal Location5951469-6056703 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 6027291 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 883 (E883K)
Ref Sequence ENSEMBL: ENSMUSP00000058375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060092]
Predicted Effect unknown
Transcript: ENSMUST00000060092
AA Change: E883K
SMART Domains Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: E883K

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
low complexity region 54 125 N/A INTRINSIC
MIF4G 167 363 1.22e-32 SMART
coiled coil region 514 543 N/A INTRINSIC
MIF4G 567 756 1.13e-50 SMART
MIF4G 771 984 3.43e-50 SMART
low complexity region 1023 1042 N/A INTRINSIC
Pfam:Upf2 1051 1215 1.5e-45 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000128200
AA Change: E138K
SMART Domains Protein: ENSMUSP00000119348
Gene: ENSMUSG00000043241
AA Change: E138K

DomainStartEndE-ValueType
MIF4G 27 240 3.43e-50 SMART
low complexity region 279 298 N/A INTRINSIC
Pfam:Upf2 304 469 3.1e-44 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,228,325 V94E probably damaging Het
Agl A G 3: 116,779,080 S841P probably benign Het
BC003331 A G 1: 150,363,489 probably null Het
Cd59b A C 2: 104,081,104 probably benign Het
Dopey2 T C 16: 93,770,822 L1379P probably damaging Het
Ercc2 G A 7: 19,394,045 A433T possibly damaging Het
Gm17175 T C 14: 51,569,611 probably benign Het
Gm5150 A T 3: 15,990,752 I103N probably damaging Het
Igf1 A G 10: 87,864,746 M11V probably benign Het
Incenp T C 19: 9,893,368 N299S unknown Het
Maneal A T 4: 124,856,770 S398T probably damaging Het
Map1a A G 2: 121,299,288 N195S probably damaging Het
Mars2 T C 1: 55,237,591 F118L possibly damaging Het
Mast4 A G 13: 102,735,496 S2263P probably benign Het
Mrgprb1 C A 7: 48,447,717 R149L possibly damaging Het
Myo1d T C 11: 80,666,581 D511G probably damaging Het
Ntan1 T C 16: 13,834,676 probably benign Het
Nxf2 A G X: 134,956,467 F158L probably damaging Het
Olfr1513 T A 14: 52,350,044 M1L possibly damaging Het
Trpm1 C T 7: 64,269,114 A734V possibly damaging Het
Ush1c T C 7: 46,229,250 I83V probably damaging Het
Vmn2r60 C A 7: 42,195,466 T751N possibly damaging Het
Zfp146 A G 7: 30,162,590 I9T probably benign Het
Zfp592 G A 7: 81,037,970 probably benign Het
Zswim8 C T 14: 20,711,887 L243F probably damaging Het
Other mutations in Upf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Upf2 APN 2 5961300 missense unknown
IGL01394:Upf2 APN 2 6040213 splice site probably null
IGL01571:Upf2 APN 2 6018939 unclassified probably benign
IGL01624:Upf2 APN 2 6034179 missense probably benign
IGL02121:Upf2 APN 2 6026323 splice site probably benign
IGL02491:Upf2 APN 2 6026164 missense unknown
R0265:Upf2 UTSW 2 6027204 splice site probably benign
R0390:Upf2 UTSW 2 6018894 unclassified probably benign
R0480:Upf2 UTSW 2 5957634 missense possibly damaging 0.71
R0513:Upf2 UTSW 2 5957667 missense unknown
R0579:Upf2 UTSW 2 5988429 missense unknown
R0612:Upf2 UTSW 2 6034098 splice site probably benign
R0856:Upf2 UTSW 2 5957652 missense unknown
R1103:Upf2 UTSW 2 6026175 missense unknown
R1384:Upf2 UTSW 2 5960989 missense unknown
R1672:Upf2 UTSW 2 6040097 splice site probably null
R1728:Upf2 UTSW 2 6027450 missense probably damaging 1.00
R1784:Upf2 UTSW 2 6027450 missense probably damaging 1.00
R1836:Upf2 UTSW 2 6050324 splice site probably null
R2252:Upf2 UTSW 2 5961460 missense unknown
R2339:Upf2 UTSW 2 6040102 splice site probably benign
R3015:Upf2 UTSW 2 5976079 missense unknown
R3931:Upf2 UTSW 2 6047010 missense unknown
R4151:Upf2 UTSW 2 5961705 missense unknown
R4283:Upf2 UTSW 2 5973558 missense unknown
R4558:Upf2 UTSW 2 5973593 missense unknown
R4564:Upf2 UTSW 2 6027312 missense unknown
R5630:Upf2 UTSW 2 6027301 missense probably damaging 0.99
R6370:Upf2 UTSW 2 5976010 missense unknown
R6418:Upf2 UTSW 2 6027339 missense unknown
R6432:Upf2 UTSW 2 5979777 missense unknown
R7184:Upf2 UTSW 2 6023320 missense unknown
R7308:Upf2 UTSW 2 5973518 missense unknown
R7371:Upf2 UTSW 2 5961040 missense unknown
R7404:Upf2 UTSW 2 6040203 missense unknown
R7439:Upf2 UTSW 2 6018932 missense unknown
R7441:Upf2 UTSW 2 6018932 missense unknown
R7461:Upf2 UTSW 2 5973536 missense unknown
R7483:Upf2 UTSW 2 6027408 missense unknown
R7613:Upf2 UTSW 2 5973536 missense unknown
R7976:Upf2 UTSW 2 6026115 missense unknown
R8044:Upf2 UTSW 2 6029438 missense unknown
R8516:Upf2 UTSW 2 6018971 missense unknown
R8880:Upf2 UTSW 2 6026172 missense unknown
R8911:Upf2 UTSW 2 5983082 missense not run
Z1176:Upf2 UTSW 2 6023388 missense unknown
Posted On2015-04-16