Incidental Mutation 'IGL01890:Upf1'
ID |
179238 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Upf1
|
Ensembl Gene |
ENSMUSG00000058301 |
Gene Name |
UPF1 regulator of nonsense transcripts homolog (yeast) |
Synonyms |
B430202H16Rik, PNORF-1, Rent1 |
Accession Numbers |
|
Is this an essential gene? |
Probably essential
(E-score: 0.972)
|
Stock # |
IGL01890
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
70331525-70353278 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70334230 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 879
(V879E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075666]
[ENSMUST00000140239]
[ENSMUST00000165819]
[ENSMUST00000207684]
[ENSMUST00000215817]
|
AlphaFold |
Q9EPU0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075666
AA Change: V879E
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000075089 Gene: ENSMUSG00000058301 AA Change: V879E
Domain | Start | End | E-Value | Type |
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: ENSMUST00000140239
|
SMART Domains |
Protein: ENSMUSP00000120598 Gene: ENSMUSG00000087408
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
68 |
N/A |
INTRINSIC |
TLC
|
97 |
311 |
1.24e-57 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165819
|
SMART Domains |
Protein: ENSMUSP00000128325 Gene: ENSMUSG00000087408
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:TGFb_propeptide
|
33 |
169 |
7e-16 |
PFAM |
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
TGFB
|
251 |
357 |
6.22e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207684
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215817
AA Change: V868E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
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 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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
T |
12: 80,184,868 |
V265E |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,644,527 |
I865V |
probably benign |
Het |
Car5a |
G |
A |
8: 121,923,610 |
A182V |
probably benign |
Het |
Ccdc47 |
A |
G |
11: 106,205,451 |
V249A |
probably damaging |
Het |
Cyb561d2 |
A |
G |
9: 107,541,523 |
V34A |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 131,074,419 |
|
probably benign |
Het |
Entpd6 |
G |
A |
2: 150,770,692 |
D445N |
possibly damaging |
Het |
Fastkd2 |
A |
G |
1: 63,732,161 |
I225M |
probably benign |
Het |
Flcn |
A |
G |
11: 59,795,170 |
V424A |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 |
Y194F |
probably benign |
Het |
Gpn3 |
A |
G |
5: 122,381,265 |
M176V |
probably benign |
Het |
Igkv12-38 |
C |
T |
6: 69,943,405 |
C43Y |
probably damaging |
Het |
Oas1h |
A |
G |
5: 120,862,789 |
|
probably null |
Het |
Rexo1 |
A |
T |
10: 80,543,011 |
Y1064N |
possibly damaging |
Het |
Skint1 |
G |
A |
4: 112,010,681 |
G2R |
probably damaging |
Het |
Slc4a9 |
G |
A |
18: 36,529,707 |
A172T |
possibly damaging |
Het |
Synpo2 |
A |
G |
3: 123,112,497 |
S727P |
probably damaging |
Het |
Tmem131 |
A |
T |
1: 36,823,156 |
|
probably benign |
Het |
Trpm3 |
G |
T |
19: 22,711,719 |
R4L |
probably damaging |
Het |
Vmn1r194 |
A |
T |
13: 22,244,606 |
Y131F |
probably benign |
Het |
Vmn2r95 |
T |
A |
17: 18,451,475 |
N491K |
probably damaging |
Het |
Vmn2r-ps159 |
C |
T |
4: 156,338,254 |
|
noncoding transcript |
Het |
|
Other mutations in Upf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01113:Upf1
|
APN |
8 |
70338284 |
missense |
probably benign |
|
IGL02534:Upf1
|
APN |
8 |
70335652 |
critical splice donor site |
probably null |
|
IGL03142:Upf1
|
APN |
8 |
70333327 |
missense |
probably benign |
0.04 |
IGL03151:Upf1
|
APN |
8 |
70335387 |
missense |
probably damaging |
0.98 |
Nanosphere
|
UTSW |
8 |
70344262 |
missense |
probably benign |
0.01 |
Particulate
|
UTSW |
8 |
70337025 |
missense |
probably damaging |
0.96 |
R0270:Upf1
|
UTSW |
8 |
70335645 |
splice site |
probably benign |
|
R0477:Upf1
|
UTSW |
8 |
70334080 |
missense |
probably benign |
|
R0755:Upf1
|
UTSW |
8 |
70334129 |
missense |
probably benign |
0.01 |
R1018:Upf1
|
UTSW |
8 |
70338906 |
missense |
possibly damaging |
0.85 |
R1067:Upf1
|
UTSW |
8 |
70338403 |
missense |
probably damaging |
0.98 |
R1445:Upf1
|
UTSW |
8 |
70341524 |
missense |
probably benign |
0.00 |
R1458:Upf1
|
UTSW |
8 |
70344254 |
missense |
probably benign |
0.00 |
R1511:Upf1
|
UTSW |
8 |
70338505 |
missense |
probably damaging |
0.99 |
R1552:Upf1
|
UTSW |
8 |
70333059 |
nonsense |
probably null |
|
R1560:Upf1
|
UTSW |
8 |
70338442 |
missense |
probably damaging |
1.00 |
R1562:Upf1
|
UTSW |
8 |
70343367 |
nonsense |
probably null |
|
R2082:Upf1
|
UTSW |
8 |
70341572 |
missense |
probably damaging |
1.00 |
R2143:Upf1
|
UTSW |
8 |
70339354 |
missense |
probably null |
1.00 |
R2423:Upf1
|
UTSW |
8 |
70338460 |
missense |
probably damaging |
1.00 |
R2425:Upf1
|
UTSW |
8 |
70338460 |
missense |
probably damaging |
1.00 |
R3031:Upf1
|
UTSW |
8 |
70338460 |
missense |
probably damaging |
1.00 |
R3032:Upf1
|
UTSW |
8 |
70338460 |
missense |
probably damaging |
1.00 |
R3123:Upf1
|
UTSW |
8 |
70337483 |
splice site |
probably benign |
|
R3508:Upf1
|
UTSW |
8 |
70338460 |
missense |
probably damaging |
1.00 |
R3747:Upf1
|
UTSW |
8 |
70333350 |
missense |
possibly damaging |
0.75 |
R3748:Upf1
|
UTSW |
8 |
70333350 |
missense |
possibly damaging |
0.75 |
R3750:Upf1
|
UTSW |
8 |
70333350 |
missense |
possibly damaging |
0.75 |
R3754:Upf1
|
UTSW |
8 |
70339814 |
missense |
probably benign |
0.30 |
R3964:Upf1
|
UTSW |
8 |
70338460 |
missense |
probably damaging |
1.00 |
R3965:Upf1
|
UTSW |
8 |
70338460 |
missense |
probably damaging |
1.00 |
R4152:Upf1
|
UTSW |
8 |
70338460 |
missense |
probably damaging |
1.00 |
R4505:Upf1
|
UTSW |
8 |
70337566 |
missense |
probably damaging |
1.00 |
R4506:Upf1
|
UTSW |
8 |
70337566 |
missense |
probably damaging |
1.00 |
R4838:Upf1
|
UTSW |
8 |
70339368 |
missense |
probably benign |
0.03 |
R5001:Upf1
|
UTSW |
8 |
70334700 |
missense |
probably damaging |
1.00 |
R5715:Upf1
|
UTSW |
8 |
70352978 |
missense |
probably damaging |
0.96 |
R5748:Upf1
|
UTSW |
8 |
70338517 |
missense |
probably damaging |
1.00 |
R5856:Upf1
|
UTSW |
8 |
70334762 |
critical splice acceptor site |
probably null |
|
R5930:Upf1
|
UTSW |
8 |
70344262 |
missense |
probably benign |
0.01 |
R6010:Upf1
|
UTSW |
8 |
70337025 |
missense |
probably damaging |
0.96 |
R6056:Upf1
|
UTSW |
8 |
70333037 |
missense |
probably damaging |
0.98 |
R6870:Upf1
|
UTSW |
8 |
70341561 |
missense |
probably benign |
0.11 |
R7205:Upf1
|
UTSW |
8 |
70340045 |
missense |
possibly damaging |
0.94 |
R7385:Upf1
|
UTSW |
8 |
70340618 |
missense |
probably damaging |
1.00 |
R7464:Upf1
|
UTSW |
8 |
70333423 |
missense |
probably benign |
|
R7759:Upf1
|
UTSW |
8 |
70334080 |
missense |
probably benign |
|
R7783:Upf1
|
UTSW |
8 |
70352858 |
missense |
probably benign |
0.11 |
R8079:Upf1
|
UTSW |
8 |
70338884 |
critical splice donor site |
probably null |
|
R8192:Upf1
|
UTSW |
8 |
70340644 |
missense |
probably benign |
0.03 |
R8544:Upf1
|
UTSW |
8 |
70337052 |
missense |
probably damaging |
1.00 |
R8738:Upf1
|
UTSW |
8 |
70333322 |
missense |
probably benign |
0.01 |
R8738:Upf1
|
UTSW |
8 |
70333323 |
missense |
probably benign |
0.06 |
R8826:Upf1
|
UTSW |
8 |
70338280 |
missense |
probably benign |
|
R8876:Upf1
|
UTSW |
8 |
70344268 |
missense |
possibly damaging |
0.92 |
R8906:Upf1
|
UTSW |
8 |
70334165 |
nonsense |
probably null |
|
R8911:Upf1
|
UTSW |
8 |
70338437 |
missense |
possibly damaging |
0.53 |
R9163:Upf1
|
UTSW |
8 |
70340024 |
missense |
probably benign |
|
R9425:Upf1
|
UTSW |
8 |
70339353 |
missense |
probably benign |
0.06 |
|
Posted On |
2014-05-07 |