Incidental Mutation 'IGL02491:Upf2'
ID 295661
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Upf2
Ensembl Gene ENSMUSG00000043241
Gene Name UPF2 regulator of nonsense transcripts homolog (yeast)
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02491
Quality Score
Status
Chromosome 2
Chromosomal Location 5956280-6061514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6030975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 805 (D805G)
Ref Sequence ENSEMBL: ENSMUSP00000058375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060092]
AlphaFold A2AT37
Predicted Effect unknown
Transcript: ENSMUST00000060092
AA Change: D805G
SMART Domains Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: D805G

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: D60G
SMART Domains Protein: ENSMUSP00000119348
Gene: ENSMUSG00000043241
AA Change: D60G

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,067,794 (GRCm39) probably benign Het
Acacb T A 5: 114,330,166 (GRCm39) I443N probably damaging Het
C1qtnf3 A T 15: 10,972,067 (GRCm39) I118F possibly damaging Het
Carmil3 C T 14: 55,741,974 (GRCm39) A1148V probably benign Het
Ccdc62 A T 5: 124,099,378 (GRCm39) S677C probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col11a2 C A 17: 34,283,181 (GRCm39) probably benign Het
Cpsf7 A G 19: 10,517,001 (GRCm39) I368V possibly damaging Het
Csmd2 T C 4: 128,428,050 (GRCm39) S2934P probably benign Het
Csmd3 A G 15: 47,777,511 (GRCm39) probably benign Het
Cubn A G 2: 13,326,039 (GRCm39) Y2709H probably damaging Het
Cyp2d12 T A 15: 82,442,682 (GRCm39) L375Q possibly damaging Het
Etv4 A T 11: 101,674,791 (GRCm39) probably null Het
Exph5 T A 9: 53,286,343 (GRCm39) D1141E possibly damaging Het
Fbxo16 T A 14: 65,558,736 (GRCm39) H298Q probably benign Het
Fbxw21 T A 9: 108,972,887 (GRCm39) Y349F probably benign Het
Foxs1 G A 2: 152,774,721 (GRCm39) R111C probably damaging Het
Galnt15 T A 14: 31,778,273 (GRCm39) L436Q probably damaging Het
Gbf1 T C 19: 46,250,979 (GRCm39) probably benign Het
Gm8237 A T 14: 5,863,577 (GRCm38) C29* probably null Het
Hcn1 A G 13: 117,946,576 (GRCm39) D317G unknown Het
Itgam A G 7: 127,715,190 (GRCm39) N877D possibly damaging Het
Kcnma1 T C 14: 23,361,757 (GRCm39) R1047G probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lpcat2 T C 8: 93,600,879 (GRCm39) V241A probably damaging Het
Mnat1 A G 12: 73,170,682 (GRCm39) N24S probably null Het
Mprip A G 11: 59,660,857 (GRCm39) T967A probably benign Het
Mtf1 T C 4: 124,732,372 (GRCm39) F477L probably benign Het
Naaladl1 A G 19: 6,159,748 (GRCm39) E393G possibly damaging Het
Or10ak7 A T 4: 118,791,358 (GRCm39) L229H probably damaging Het
Or2at1 A G 7: 99,416,540 (GRCm39) E57G possibly damaging Het
Or5e1 A G 7: 108,354,321 (GRCm39) K86R probably damaging Het
Pcdhb6 A T 18: 37,468,735 (GRCm39) D552V probably damaging Het
Pglyrp3 C T 3: 91,921,944 (GRCm39) S4F possibly damaging Het
Pramel13 A T 4: 144,121,322 (GRCm39) M234K probably damaging Het
Prss27 A T 17: 24,263,229 (GRCm39) probably benign Het
Slc5a9 A G 4: 111,753,549 (GRCm39) S51P probably damaging Het
Slc6a4 A G 11: 76,918,034 (GRCm39) Y592C probably damaging Het
Slc7a13 T A 4: 19,841,404 (GRCm39) V417D probably damaging Het
Spring1 T C 5: 118,397,160 (GRCm39) Y130H probably benign Het
Syne2 A G 12: 76,118,953 (GRCm39) T5857A probably benign Het
Thap1 A C 8: 26,650,885 (GRCm39) S52R probably damaging Het
Thsd4 T C 9: 59,907,301 (GRCm39) N158S probably damaging Het
Tmem147 A T 7: 30,427,626 (GRCm39) probably benign Het
Trdmt1 G A 2: 13,521,483 (GRCm39) A311V probably benign Het
U2surp T A 9: 95,372,273 (GRCm39) R296S probably damaging Het
Usp34 T A 11: 23,382,630 (GRCm39) H2057Q probably damaging Het
Vmn2r110 T A 17: 20,816,400 (GRCm39) D41V probably damaging Het
Vmn2r16 T A 5: 109,487,703 (GRCm39) L192* probably null Het
Vnn3 T A 10: 23,741,816 (GRCm39) S374T probably benign Het
Wdr62 A C 7: 29,942,184 (GRCm39) D1089E probably benign Het
Xdh T A 17: 74,193,459 (GRCm39) D1279V probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp518b A G 5: 38,831,123 (GRCm39) I294T possibly damaging Het
Zfp983 G A 17: 21,876,528 (GRCm39) probably null Het
Other mutations in Upf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Upf2 APN 2 5,966,111 (GRCm39) missense unknown
IGL01394:Upf2 APN 2 6,045,024 (GRCm39) splice site probably null
IGL01571:Upf2 APN 2 6,023,750 (GRCm39) unclassified probably benign
IGL01624:Upf2 APN 2 6,038,990 (GRCm39) missense probably benign
IGL02121:Upf2 APN 2 6,031,134 (GRCm39) splice site probably benign
IGL02485:Upf2 APN 2 6,032,102 (GRCm39) missense unknown
Balderdash UTSW 2 5,978,347 (GRCm39) missense unknown
nonsense UTSW 2 6,051,845 (GRCm39) missense unknown
R0265:Upf2 UTSW 2 6,032,015 (GRCm39) splice site probably benign
R0390:Upf2 UTSW 2 6,023,705 (GRCm39) unclassified probably benign
R0480:Upf2 UTSW 2 5,962,445 (GRCm39) missense possibly damaging 0.71
R0513:Upf2 UTSW 2 5,962,478 (GRCm39) missense unknown
R0579:Upf2 UTSW 2 5,993,240 (GRCm39) missense unknown
R0612:Upf2 UTSW 2 6,038,909 (GRCm39) splice site probably benign
R0856:Upf2 UTSW 2 5,962,463 (GRCm39) missense unknown
R1103:Upf2 UTSW 2 6,030,986 (GRCm39) missense unknown
R1384:Upf2 UTSW 2 5,965,800 (GRCm39) missense unknown
R1672:Upf2 UTSW 2 6,044,908 (GRCm39) splice site probably null
R1728:Upf2 UTSW 2 6,032,261 (GRCm39) missense probably damaging 1.00
R1784:Upf2 UTSW 2 6,032,261 (GRCm39) missense probably damaging 1.00
R1836:Upf2 UTSW 2 6,055,135 (GRCm39) splice site probably null
R2252:Upf2 UTSW 2 5,966,271 (GRCm39) missense unknown
R2339:Upf2 UTSW 2 6,044,913 (GRCm39) splice site probably benign
R3015:Upf2 UTSW 2 5,980,890 (GRCm39) missense unknown
R3931:Upf2 UTSW 2 6,051,821 (GRCm39) missense unknown
R4151:Upf2 UTSW 2 5,966,516 (GRCm39) missense unknown
R4283:Upf2 UTSW 2 5,978,369 (GRCm39) missense unknown
R4558:Upf2 UTSW 2 5,978,404 (GRCm39) missense unknown
R4564:Upf2 UTSW 2 6,032,123 (GRCm39) missense unknown
R5630:Upf2 UTSW 2 6,032,112 (GRCm39) missense probably damaging 0.99
R6370:Upf2 UTSW 2 5,980,821 (GRCm39) missense unknown
R6418:Upf2 UTSW 2 6,032,150 (GRCm39) missense unknown
R6432:Upf2 UTSW 2 5,984,588 (GRCm39) missense unknown
R7184:Upf2 UTSW 2 6,028,131 (GRCm39) missense unknown
R7308:Upf2 UTSW 2 5,978,329 (GRCm39) missense unknown
R7371:Upf2 UTSW 2 5,965,851 (GRCm39) missense unknown
R7404:Upf2 UTSW 2 6,045,014 (GRCm39) missense unknown
R7439:Upf2 UTSW 2 6,023,743 (GRCm39) missense unknown
R7441:Upf2 UTSW 2 6,023,743 (GRCm39) missense unknown
R7461:Upf2 UTSW 2 5,978,347 (GRCm39) missense unknown
R7483:Upf2 UTSW 2 6,032,219 (GRCm39) missense unknown
R7613:Upf2 UTSW 2 5,978,347 (GRCm39) missense unknown
R7976:Upf2 UTSW 2 6,030,926 (GRCm39) missense unknown
R8044:Upf2 UTSW 2 6,034,249 (GRCm39) missense unknown
R8516:Upf2 UTSW 2 6,023,782 (GRCm39) missense unknown
R8880:Upf2 UTSW 2 6,030,983 (GRCm39) missense unknown
R8911:Upf2 UTSW 2 5,987,893 (GRCm39) missense unknown
R9138:Upf2 UTSW 2 6,028,132 (GRCm39) missense unknown
R9226:Upf2 UTSW 2 6,051,845 (GRCm39) missense unknown
R9444:Upf2 UTSW 2 6,023,755 (GRCm39) missense unknown
R9484:Upf2 UTSW 2 5,966,078 (GRCm39) missense unknown
R9665:Upf2 UTSW 2 6,051,715 (GRCm39) missense unknown
R9691:Upf2 UTSW 2 6,032,024 (GRCm39) missense unknown
Z1176:Upf2 UTSW 2 6,028,199 (GRCm39) missense unknown
Posted On 2015-04-16