Incidental Mutation 'R8192:Upf1'
| ID |
635226 |
| 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 |
067615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R8192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70784175-70805928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70793294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 288
(L288P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075666]
|
| AlphaFold |
Q9EPU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075666
AA Change: L288P
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000075089
Gene: ENSMUSG00000058301
AA Change: L288P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 44,103,970 (GRCm39) |
D558E |
probably damaging |
Het |
| Alox15 |
T |
A |
11: 70,241,736 (GRCm39) |
E48D |
probably benign |
Het |
| Alyref |
T |
C |
11: 120,488,522 (GRCm39) |
E102G |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,562,294 (GRCm39) |
S254G |
probably benign |
Het |
| Bcl2l13 |
A |
G |
6: 120,853,267 (GRCm39) |
E184G |
possibly damaging |
Het |
| Best1 |
T |
A |
19: 9,963,664 (GRCm39) |
I506F |
possibly damaging |
Het |
| Cd177 |
T |
A |
7: 24,453,727 (GRCm39) |
D388V |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,816,529 (GRCm39) |
K329E |
possibly damaging |
Het |
| Clasrp |
T |
C |
7: 19,329,387 (GRCm39) |
N65S |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,199,745 (GRCm39) |
R1301G |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,849,273 (GRCm39) |
E624G |
probably benign |
Het |
| Cyp21a1 |
A |
T |
17: 35,022,633 (GRCm39) |
Y109N |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,134 (GRCm39) |
S359P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,431,002 (GRCm39) |
T846A |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,976,181 (GRCm39) |
V2746A |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,428,036 (GRCm39) |
A221T |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,623,166 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,362,023 (GRCm39) |
I119V |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,399,255 (GRCm39) |
T120A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,332,145 (GRCm39) |
H397R |
probably benign |
Het |
| Gaa |
G |
T |
11: 119,161,235 (GRCm39) |
A93S |
possibly damaging |
Het |
| Galnt4 |
G |
A |
10: 98,945,118 (GRCm39) |
R281H |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,291 (GRCm39) |
E29G |
unknown |
Het |
| H13 |
T |
G |
2: 152,511,522 (GRCm39) |
D7E |
probably benign |
Het |
| H60c |
T |
A |
10: 3,209,781 (GRCm39) |
I140F |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,620,908 (GRCm39) |
N49S |
probably benign |
Het |
| Klhl11 |
G |
T |
11: 100,354,922 (GRCm39) |
P300T |
probably benign |
Het |
| Knop1 |
C |
A |
7: 118,452,369 (GRCm39) |
V117L |
|
Het |
| Lgalsl2 |
T |
A |
7: 5,362,595 (GRCm39) |
D75E |
possibly damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,334,390 (GRCm39) |
S4456P |
probably damaging |
Het |
| Mkrn1 |
A |
T |
6: 39,376,289 (GRCm39) |
V439D |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,305,215 (GRCm39) |
V612D |
|
Het |
| Nrxn3 |
A |
G |
12: 90,171,569 (GRCm39) |
N967D |
probably benign |
Het |
| Oprm1 |
C |
T |
10: 6,788,417 (GRCm39) |
P391S |
probably benign |
Het |
| Or10g7 |
T |
A |
9: 39,905,467 (GRCm39) |
D120E |
probably damaging |
Het |
| Or5d43 |
A |
C |
2: 88,105,288 (GRCm39) |
V35G |
probably damaging |
Het |
| Parp14 |
T |
A |
16: 35,691,584 (GRCm39) |
E47V |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,285,554 (GRCm39) |
E931G |
possibly damaging |
Het |
| Plcz1 |
A |
T |
6: 139,968,986 (GRCm39) |
C151S |
probably damaging |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Pramel27 |
G |
A |
4: 143,578,109 (GRCm39) |
W123* |
probably null |
Het |
| Rbm26 |
A |
G |
14: 105,380,125 (GRCm39) |
|
probably null |
Het |
| Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
| Sc5d |
T |
C |
9: 42,171,094 (GRCm39) |
I32V |
probably benign |
Het |
| Scube1 |
A |
G |
15: 83,513,583 (GRCm39) |
|
probably null |
Het |
| Shld2 |
A |
T |
14: 33,967,173 (GRCm39) |
S680T |
probably benign |
Het |
| Slc12a6 |
A |
G |
2: 112,181,722 (GRCm39) |
Y714C |
probably damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,518,541 (GRCm39) |
I670V |
probably benign |
Het |
| Slc8a3 |
A |
T |
12: 81,246,455 (GRCm39) |
V866D |
probably damaging |
Het |
| Slco3a1 |
A |
T |
7: 73,970,338 (GRCm39) |
M423K |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,349,336 (GRCm39) |
E773G |
probably benign |
Het |
| Son |
A |
G |
16: 91,452,437 (GRCm39) |
T395A |
possibly damaging |
Het |
| Ss18l1 |
T |
C |
2: 179,701,155 (GRCm39) |
S290P |
probably damaging |
Het |
| Tcof1 |
A |
C |
18: 60,976,375 (GRCm39) |
V78G |
probably damaging |
Het |
| Thsd1 |
G |
A |
8: 22,733,918 (GRCm39) |
V322M |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,253,811 (GRCm39) |
C753* |
probably null |
Het |
| Trav6n-6 |
T |
A |
14: 53,370,497 (GRCm39) |
F83I |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,007 (GRCm39) |
H222R |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,250,629 (GRCm39) |
I424M |
unknown |
Het |
| Zfp580 |
T |
C |
7: 5,056,114 (GRCm39) |
V100A |
probably benign |
Het |
| Zfpm1 |
C |
A |
8: 123,058,833 (GRCm39) |
P151Q |
probably damaging |
Het |
| Zfr2 |
C |
T |
10: 81,078,649 (GRCm39) |
P294S |
possibly damaging |
Het |
|
| Other mutations in Upf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R1445:Upf1
|
UTSW |
8 |
70,794,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- GTTTCATCCAGGCTCAAGGC -3'
(R):5'- TTGAGTATGCCAGGGCCATC -3'
Sequencing Primer
(F):5'- CTCAAGGCCAGGAAGAGTCC -3'
(R):5'- GGCCATCAGAACAGTAGGCTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation