Incidental Mutation 'R1445:Upf1'
ID 158792
Institutional Source Beutler Lab
Gene Symbol Upf1
Ensembl Gene ENSMUSG00000058301
Gene Name UPF1 regulator of nonsense transcripts homolog (yeast)
Synonyms B430202H16Rik, Rent1, PNORF-1
MMRRC Submission 039500-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R1445 (G1)
Quality Score 210
Status Validated
Chromosome 8
Chromosomal Location 70784175-70805928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70794174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 244 (Q244L)
Ref Sequence ENSEMBL: ENSMUSP00000148927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075666] [ENSMUST00000215817]
AlphaFold Q9EPU0
Predicted Effect probably benign
Transcript: ENSMUST00000075666
AA Change: Q244L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000075089
Gene: ENSMUSG00000058301
AA Change: Q244L

DomainStartEndE-ValueType
low complexity region 47 67 N/A INTRINSIC
low complexity region 101 110 N/A INTRINSIC
Pfam:UPF1_Zn_bind 116 267 4.1e-78 PFAM
Pfam:ResIII 475 617 1.3e-6 PFAM
Pfam:AAA_11 476 600 4.5e-24 PFAM
Pfam:AAA_30 476 688 5.6e-13 PFAM
Pfam:AAA_19 483 559 3.8e-16 PFAM
Pfam:AAA_11 576 679 7.7e-30 PFAM
Pfam:AAA_12 686 883 3.3e-64 PFAM
low complexity region 995 1001 N/A INTRINSIC
low complexity region 1013 1028 N/A INTRINSIC
low complexity region 1066 1081 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215817
AA Change: Q244L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.1415 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 84.0%
Validation Efficiency 96% (101/105)
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 only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable in the pre-implantation period but resorb in the early post-implantation period. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik G T 3: 116,861,385 (GRCm39) noncoding transcript Het
2300003K06Rik G T 11: 99,728,793 (GRCm39) Q17K probably benign Het
Abca16 T C 7: 120,119,256 (GRCm39) V999A probably benign Het
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Agap2 T A 10: 126,926,981 (GRCm39) probably benign Het
Ago3 C A 4: 126,265,580 (GRCm39) R278L probably benign Het
Aldh1a2 T C 9: 71,192,492 (GRCm39) V449A possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aplnr A G 2: 84,967,353 (GRCm39) Y126C probably damaging Het
Apob T C 12: 8,066,084 (GRCm39) I4351T possibly damaging Het
Ash1l T C 3: 88,914,659 (GRCm39) L1763P probably benign Het
Aspn T C 13: 49,710,849 (GRCm39) S165P possibly damaging Het
Atg13 A T 2: 91,510,335 (GRCm39) V349E probably damaging Het
Atp1b2 T A 11: 69,493,309 (GRCm39) probably null Het
B3glct A T 5: 149,677,604 (GRCm39) D411V probably damaging Het
Bcar3 A T 3: 122,316,840 (GRCm39) I255F probably damaging Het
Cacna1b G A 2: 24,608,148 (GRCm39) probably benign Het
Cep164 T G 9: 45,690,198 (GRCm39) E675A possibly damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Chst8 C A 7: 34,447,593 (GRCm39) M8I possibly damaging Het
Clec4n A G 6: 123,212,475 (GRCm39) E67G probably benign Het
Cobll1 A T 2: 64,929,480 (GRCm39) D653E probably damaging Het
Col9a1 T C 1: 24,276,579 (GRCm39) probably null Het
Crip2 T C 12: 113,107,124 (GRCm39) L30P probably damaging Het
Ctbp1 C T 5: 33,418,407 (GRCm39) V22I probably benign Het
Cwc22 T C 2: 77,747,521 (GRCm39) probably benign Het
Cyp4a32 C A 4: 115,460,147 (GRCm39) Y119* probably null Het
Dido1 G T 2: 180,313,263 (GRCm39) A463E possibly damaging Het
Dnah7a G A 1: 53,567,956 (GRCm39) P1880L probably benign Het
Dock2 T A 11: 34,189,705 (GRCm39) T1489S probably benign Het
Dsp A G 13: 38,375,907 (GRCm39) T1231A probably damaging Het
Eif2ak1 G T 5: 143,810,717 (GRCm39) probably benign Het
Entrep1 G A 19: 23,998,998 (GRCm39) T140M probably damaging Het
Epc1 A T 18: 6,452,360 (GRCm39) M233K probably damaging Het
Gigyf2 A G 1: 87,371,360 (GRCm39) probably benign Het
Greb1 T G 12: 16,757,852 (GRCm39) H58P probably damaging Het
Gtpbp1 T C 15: 79,597,649 (GRCm39) I348T possibly damaging Het
Hck A T 2: 152,970,192 (GRCm39) N64Y probably benign Het
Herc2 T C 7: 55,818,744 (GRCm39) S2812P probably damaging Het
Inpp4b T A 8: 82,679,463 (GRCm39) probably null Het
Kcnq5 A C 1: 21,475,248 (GRCm39) S473A probably benign Het
Lrat T G 3: 82,810,676 (GRCm39) D115A probably damaging Het
Lyst A G 13: 13,814,639 (GRCm39) I1131M possibly damaging Het
Man2a2 T C 7: 80,018,310 (GRCm39) D160G probably benign Het
Marf1 C T 16: 13,933,688 (GRCm39) D1567N probably benign Het
Mars1 T C 10: 127,133,857 (GRCm39) D680G possibly damaging Het
Mat1a T C 14: 40,843,797 (GRCm39) S339P probably damaging Het
Megf8 T C 7: 25,042,081 (GRCm39) S1300P probably damaging Het
Mga T C 2: 119,733,179 (GRCm39) L9S probably damaging Het
Mllt6 T C 11: 97,563,277 (GRCm39) probably benign Het
Mrpl37 A G 4: 106,921,692 (GRCm39) L179P probably benign Het
Mtnr1a G T 8: 45,540,782 (GRCm39) V248L probably benign Het
Mylk T C 16: 34,635,835 (GRCm39) S19P possibly damaging Het
Or11g1 A G 14: 50,651,858 (GRCm39) T286A probably damaging Het
Pacc1 A G 1: 191,080,559 (GRCm39) probably benign Het
Parp8 A T 13: 117,161,886 (GRCm39) probably null Het
Pcnx2 T C 8: 126,479,023 (GRCm39) D2075G probably damaging Het
Pigo A T 4: 43,021,460 (GRCm39) I494K probably benign Het
Pkd1l1 A T 11: 8,820,313 (GRCm39) D1217E probably benign Het
Pkhd1l1 T C 15: 44,369,040 (GRCm39) V895A probably benign Het
Plcb4 A T 2: 135,842,109 (GRCm39) H1031L possibly damaging Het
Plxnb1 A G 9: 108,937,989 (GRCm39) K1245R probably null Het
Pold1 C T 7: 44,192,181 (GRCm39) probably benign Het
Ptprq T C 10: 107,498,423 (GRCm39) I885V probably damaging Het
Ptprz1 A G 6: 23,050,473 (GRCm39) D1398G probably damaging Het
Pygm G A 19: 6,439,917 (GRCm39) A364T probably benign Het
Rbl1 T C 2: 157,035,018 (GRCm39) N354S probably benign Het
Scgb2b19 C T 7: 32,979,037 (GRCm39) probably null Het
Slc26a8 C T 17: 28,867,187 (GRCm39) V545M possibly damaging Het
Slc27a1 T A 8: 72,036,757 (GRCm39) probably null Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Sorbs3 A G 14: 70,431,095 (GRCm39) V284A probably benign Het
Stfa2l1 T C 16: 35,982,154 (GRCm39) V75A probably damaging Het
Syndig1 A G 2: 149,772,841 (GRCm39) D166G probably damaging Het
Tcp10a G A 17: 7,593,406 (GRCm39) probably null Het
Themis2 T A 4: 132,510,212 (GRCm39) I663F possibly damaging Het
Thrap3 T C 4: 126,070,129 (GRCm39) Q586R probably damaging Het
Tinag C A 9: 76,952,798 (GRCm39) C62F probably damaging Het
Tmod1 T C 4: 46,090,884 (GRCm39) Y146H probably damaging Het
Tmprss4 T A 9: 45,095,683 (GRCm39) I54F possibly damaging Het
Tnks A C 8: 35,301,757 (GRCm39) probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Trpc6 A G 9: 8,680,538 (GRCm39) E844G probably benign Het
Ubtd2 C T 11: 32,466,125 (GRCm39) R115W probably damaging Het
Ubxn6 T C 17: 56,376,042 (GRCm39) D373G probably benign Het
Usp33 A G 3: 152,074,271 (GRCm39) I372M probably damaging Het
Usp34 A G 11: 23,301,629 (GRCm39) E351G probably damaging Het
Utrn A G 10: 12,554,318 (GRCm39) probably benign Het
Vmn1r78 A G 7: 11,886,508 (GRCm39) K40E possibly damaging Het
Vmn2r7 T A 3: 64,632,223 (GRCm39) M80L probably benign Het
Vps13a G T 19: 16,678,602 (GRCm39) Y1126* probably null Het
Wfdc11 T C 2: 164,506,366 (GRCm39) N60S probably benign Het
Wnk2 C T 13: 49,224,586 (GRCm39) D992N probably damaging Het
Zpbp2 C A 11: 98,444,670 (GRCm39) T66K probably damaging Het
Other mutations in Upf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Upf1 APN 8 70,790,934 (GRCm39) missense probably benign
IGL01890:Upf1 APN 8 70,786,880 (GRCm39) missense possibly damaging 0.94
IGL02534:Upf1 APN 8 70,788,302 (GRCm39) critical splice donor site probably null
IGL03142:Upf1 APN 8 70,785,977 (GRCm39) missense probably benign 0.04
IGL03151:Upf1 APN 8 70,788,037 (GRCm39) missense probably damaging 0.98
Nanosphere UTSW 8 70,796,912 (GRCm39) missense probably benign 0.01
Particulate UTSW 8 70,789,675 (GRCm39) missense probably damaging 0.96
R0270:Upf1 UTSW 8 70,788,295 (GRCm39) splice site probably benign
R0477:Upf1 UTSW 8 70,786,730 (GRCm39) missense probably benign
R0755:Upf1 UTSW 8 70,786,779 (GRCm39) missense probably benign 0.01
R1018:Upf1 UTSW 8 70,791,556 (GRCm39) missense possibly damaging 0.85
R1067:Upf1 UTSW 8 70,791,053 (GRCm39) missense probably damaging 0.98
R1458:Upf1 UTSW 8 70,796,904 (GRCm39) missense probably benign 0.00
R1511:Upf1 UTSW 8 70,791,155 (GRCm39) missense probably damaging 0.99
R1552:Upf1 UTSW 8 70,785,709 (GRCm39) nonsense probably null
R1560:Upf1 UTSW 8 70,791,092 (GRCm39) missense probably damaging 1.00
R1562:Upf1 UTSW 8 70,796,017 (GRCm39) nonsense probably null
R2082:Upf1 UTSW 8 70,794,222 (GRCm39) missense probably damaging 1.00
R2143:Upf1 UTSW 8 70,792,004 (GRCm39) missense probably null 1.00
R2423:Upf1 UTSW 8 70,791,110 (GRCm39) missense probably damaging 1.00
R2425:Upf1 UTSW 8 70,791,110 (GRCm39) missense probably damaging 1.00
R3031:Upf1 UTSW 8 70,791,110 (GRCm39) missense probably damaging 1.00
R3032:Upf1 UTSW 8 70,791,110 (GRCm39) missense probably damaging 1.00
R3123:Upf1 UTSW 8 70,790,133 (GRCm39) splice site probably benign
R3508:Upf1 UTSW 8 70,791,110 (GRCm39) missense probably damaging 1.00
R3747:Upf1 UTSW 8 70,786,000 (GRCm39) missense possibly damaging 0.75
R3748:Upf1 UTSW 8 70,786,000 (GRCm39) missense possibly damaging 0.75
R3750:Upf1 UTSW 8 70,786,000 (GRCm39) missense possibly damaging 0.75
R3754:Upf1 UTSW 8 70,792,464 (GRCm39) missense probably benign 0.30
R3964:Upf1 UTSW 8 70,791,110 (GRCm39) missense probably damaging 1.00
R3965:Upf1 UTSW 8 70,791,110 (GRCm39) missense probably damaging 1.00
R4152:Upf1 UTSW 8 70,791,110 (GRCm39) missense probably damaging 1.00
R4505:Upf1 UTSW 8 70,790,216 (GRCm39) missense probably damaging 1.00
R4506:Upf1 UTSW 8 70,790,216 (GRCm39) missense probably damaging 1.00
R4838:Upf1 UTSW 8 70,792,018 (GRCm39) missense probably benign 0.03
R5001:Upf1 UTSW 8 70,787,350 (GRCm39) missense probably damaging 1.00
R5715:Upf1 UTSW 8 70,805,628 (GRCm39) missense probably damaging 0.96
R5748:Upf1 UTSW 8 70,791,167 (GRCm39) missense probably damaging 1.00
R5856:Upf1 UTSW 8 70,787,412 (GRCm39) critical splice acceptor site probably null
R5930:Upf1 UTSW 8 70,796,912 (GRCm39) missense probably benign 0.01
R6010:Upf1 UTSW 8 70,789,675 (GRCm39) missense probably damaging 0.96
R6056:Upf1 UTSW 8 70,785,687 (GRCm39) missense probably damaging 0.98
R6870:Upf1 UTSW 8 70,794,211 (GRCm39) missense probably benign 0.11
R7205:Upf1 UTSW 8 70,792,695 (GRCm39) missense possibly damaging 0.94
R7385:Upf1 UTSW 8 70,793,268 (GRCm39) missense probably damaging 1.00
R7464:Upf1 UTSW 8 70,786,073 (GRCm39) missense probably benign
R7759:Upf1 UTSW 8 70,786,730 (GRCm39) missense probably benign
R7783:Upf1 UTSW 8 70,805,508 (GRCm39) missense probably benign 0.11
R8079:Upf1 UTSW 8 70,791,534 (GRCm39) critical splice donor site probably null
R8192:Upf1 UTSW 8 70,793,294 (GRCm39) missense probably benign 0.03
R8544:Upf1 UTSW 8 70,789,702 (GRCm39) missense probably damaging 1.00
R8738:Upf1 UTSW 8 70,785,973 (GRCm39) missense probably benign 0.06
R8738:Upf1 UTSW 8 70,785,972 (GRCm39) missense probably benign 0.01
R8826:Upf1 UTSW 8 70,790,930 (GRCm39) missense probably benign
R8876:Upf1 UTSW 8 70,796,918 (GRCm39) missense possibly damaging 0.92
R8906:Upf1 UTSW 8 70,786,815 (GRCm39) nonsense probably null
R8911:Upf1 UTSW 8 70,791,087 (GRCm39) missense possibly damaging 0.53
R9163:Upf1 UTSW 8 70,792,674 (GRCm39) missense probably benign
R9425:Upf1 UTSW 8 70,792,003 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ACCCAAGTGCAAAGAGACTAAGCTG -3'
(R):5'- CTGCTGTGAACTGAGGCCAGAG -3'

Sequencing Primer
(F):5'- GCTCCTTGGAGTAGGAATCTCATAAC -3'
(R):5'- AGATGCTGCTGCTGCCTTC -3'
Posted On 2014-03-14