Incidental Mutation 'IGL01147:Upf3b'
ID 53366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Upf3b
Ensembl Gene ENSMUSG00000036572
Gene Name UPF3 regulator of nonsense transcripts homolog B (yeast)
Synonyms UPF3X, RENT3B, 5730594O13Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01147
Quality Score
Status
Chromosome X
Chromosomal Location 36355331-36373975 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36360586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 298 (E298G)
Ref Sequence ENSEMBL: ENSMUSP00000075614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076265]
AlphaFold Q3ULL6
Predicted Effect probably damaging
Transcript: ENSMUST00000076265
AA Change: E298G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075614
Gene: ENSMUSG00000036572
AA Change: E298G

DomainStartEndE-ValueType
Pfam:Smg4_UPF3 48 209 1.1e-57 PFAM
low complexity region 211 256 N/A INTRINSIC
low complexity region 278 294 N/A INTRINSIC
coiled coil region 333 400 N/A INTRINSIC
low complexity region 406 416 N/A INTRINSIC
PDB:2XB2|U 417 472 7e-26 PDB
Predicted Effect unknown
Transcript: ENSMUST00000130324
AA Change: E186G
SMART Domains Protein: ENSMUSP00000121631
Gene: ENSMUSG00000036572
AA Change: E186G

DomainStartEndE-ValueType
Pfam:Smg4_UPF3 1 85 1.5e-23 PFAM
low complexity region 87 132 N/A INTRINSIC
low complexity region 167 183 N/A INTRINSIC
coiled coil region 221 259 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133481
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. The encoded protein is one of two functional homologs to yeast Upf3p. 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 binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous or hemizygous for a null mutation display impaired startle responses, prepulse inhibition, and cued and contextual fear conditioning behavior, limb grasping, decreased neuronal precursor proliferation, and increased neuronal precursor proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,234,611 (GRCm39) probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cdh1 C A 8: 107,387,516 (GRCm39) T472K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap57 A T 4: 118,446,198 (GRCm39) V688E probably damaging Het
Cfp G A X: 20,794,981 (GRCm39) R155C probably damaging Het
Chst7 T C X: 19,926,991 (GRCm39) I346T probably damaging Het
Crybg2 G A 4: 133,816,575 (GRCm39) probably null Het
Ctsc T A 7: 87,951,479 (GRCm39) V242D possibly damaging Het
Cyp27b1 C T 10: 126,886,255 (GRCm39) T312I possibly damaging Het
D6Wsu163e A G 6: 126,921,815 (GRCm39) D80G possibly damaging Het
Enpp3 G T 10: 24,650,805 (GRCm39) T777K probably damaging Het
H2-M1 T A 17: 36,982,199 (GRCm39) H134L possibly damaging Het
Heatr1 T C 13: 12,452,793 (GRCm39) S2105P probably damaging Het
Herc2 T C 7: 55,806,697 (GRCm39) S2388P probably benign Het
Igkv6-23 A G 6: 70,237,922 (GRCm39) probably benign Het
Il1rapl2 C T X: 137,121,325 (GRCm39) probably benign Het
Itpka T C 2: 119,573,254 (GRCm39) L132P probably benign Het
Jak3 T C 8: 72,136,047 (GRCm39) S616P probably benign Het
Kcnj11 T C 7: 45,748,193 (GRCm39) K377E probably benign Het
Map4k3 A T 17: 80,944,147 (GRCm39) probably null Het
Parp1 T C 1: 180,417,145 (GRCm39) I643T probably damaging Het
Phf3 T C 1: 30,843,250 (GRCm39) D1903G probably damaging Het
Picalm G T 7: 89,826,800 (GRCm39) S416I probably benign Het
Pkn2 T C 3: 142,534,770 (GRCm39) N285S probably benign Het
Sh3gl2 A C 4: 85,265,433 (GRCm39) probably benign Het
Smpd1 C A 7: 105,204,943 (GRCm39) T274K probably damaging Het
Snap91 G A 9: 86,680,611 (GRCm39) T424M probably benign Het
Sox13 T A 1: 133,320,873 (GRCm39) T46S probably benign Het
Syne1 G A 10: 5,002,691 (GRCm39) Q8075* probably null Het
Trio T C 15: 27,881,406 (GRCm39) E555G probably damaging Het
Vmn1r158 A G 7: 22,490,204 (GRCm39) S2P probably benign Het
Vmn1r6 T A 6: 56,979,626 (GRCm39) L74H probably damaging Het
Vwa2 T C 19: 56,890,066 (GRCm39) S224P probably damaging Het
Wbp1l T A 19: 46,632,808 (GRCm39) V36E probably damaging Het
Zfp367 A G 13: 64,283,253 (GRCm39) S300P probably damaging Het
Other mutations in Upf3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0383:Upf3b UTSW X 36,368,120 (GRCm39) missense probably benign 0.01
X0011:Upf3b UTSW X 36,363,312 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21