Incidental Mutation 'R7759:Upf1'
ID |
597729 |
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 |
045815-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.972)
|
Stock # |
R7759 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70784175-70805928 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70786730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 929
(V929A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075666]
[ENSMUST00000140239]
[ENSMUST00000165819]
[ENSMUST00000207684]
[ENSMUST00000215817]
|
AlphaFold |
Q9EPU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075666
AA Change: V929A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000075089 Gene: ENSMUSG00000058301 AA Change: V929A
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 |
probably benign
Transcript: ENSMUST00000215817
AA Change: V918A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
T |
16: 4,682,514 (GRCm39) |
G215V |
probably benign |
Het |
Adamts1 |
C |
A |
16: 85,594,683 (GRCm39) |
G652C |
probably damaging |
Het |
Adck1 |
G |
A |
12: 88,368,887 (GRCm39) |
A122T |
possibly damaging |
Het |
Akap1 |
A |
C |
11: 88,736,659 (GRCm39) |
M34R |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,147,030 (GRCm39) |
R695C |
probably damaging |
Het |
Apon |
T |
A |
10: 128,090,384 (GRCm39) |
W21R |
probably benign |
Het |
Arhgef16 |
T |
C |
4: 154,371,432 (GRCm39) |
T254A |
probably benign |
Het |
Arid5b |
T |
A |
10: 67,933,632 (GRCm39) |
S757C |
probably damaging |
Het |
B020004C17Rik |
A |
C |
14: 57,254,242 (GRCm39) |
I122L |
possibly damaging |
Het |
Bckdhb |
T |
G |
9: 83,892,379 (GRCm39) |
V270G |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,821,145 (GRCm39) |
Y1146H |
probably benign |
Het |
Carmil2 |
A |
G |
8: 106,423,668 (GRCm39) |
D1214G |
possibly damaging |
Het |
Ccdc142 |
T |
C |
6: 83,084,912 (GRCm39) |
V636A |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,704,178 (GRCm39) |
|
probably null |
Het |
Csmd3 |
A |
G |
15: 47,561,569 (GRCm39) |
S1336P |
|
Het |
Cubn |
A |
G |
2: 13,352,961 (GRCm39) |
Y1926H |
probably damaging |
Het |
Dock4 |
A |
T |
12: 40,867,735 (GRCm39) |
D1437V |
probably damaging |
Het |
Eme1 |
A |
T |
11: 94,536,666 (GRCm39) |
Y504* |
probably null |
Het |
Enah |
G |
A |
1: 181,746,009 (GRCm39) |
A687V |
unknown |
Het |
Endou |
A |
C |
15: 97,611,747 (GRCm39) |
V339G |
probably damaging |
Het |
Ephb6 |
G |
A |
6: 41,591,539 (GRCm39) |
R232H |
probably benign |
Het |
Ephx2 |
G |
A |
14: 66,326,968 (GRCm39) |
A409V |
possibly damaging |
Het |
Esd |
T |
A |
14: 74,983,007 (GRCm39) |
C219* |
probably null |
Het |
Fscb |
A |
T |
12: 64,520,866 (GRCm39) |
M200K |
probably benign |
Het |
Gabra6 |
A |
T |
11: 42,208,508 (GRCm39) |
V108D |
probably damaging |
Het |
Gm11555 |
A |
G |
11: 99,540,568 (GRCm39) |
V137A |
unknown |
Het |
Gpld1 |
A |
G |
13: 25,146,383 (GRCm39) |
D209G |
probably damaging |
Het |
Ikzf1 |
T |
A |
11: 11,719,256 (GRCm39) |
I408N |
probably damaging |
Het |
Itgb4 |
A |
G |
11: 115,894,536 (GRCm39) |
R1364G |
possibly damaging |
Het |
Kif26b |
A |
C |
1: 178,506,509 (GRCm39) |
K195T |
probably damaging |
Het |
Mfsd12 |
T |
C |
10: 81,199,427 (GRCm39) |
W440R |
probably benign |
Het |
Mtrr |
C |
T |
13: 68,718,146 (GRCm39) |
E373K |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,058,317 (GRCm39) |
V1293E |
probably damaging |
Het |
Myof |
C |
A |
19: 37,928,346 (GRCm39) |
A1068S |
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,412,672 (GRCm39) |
D720G |
probably damaging |
Het |
Nova2 |
G |
T |
7: 18,692,176 (GRCm39) |
G435V |
|
Het |
Oacyl |
T |
A |
18: 65,843,631 (GRCm39) |
D109E |
probably damaging |
Het |
Or2y1g |
A |
T |
11: 49,171,463 (GRCm39) |
M163L |
probably benign |
Het |
Or56a4 |
G |
A |
7: 104,806,232 (GRCm39) |
S219F |
probably damaging |
Het |
Pdcd11 |
G |
A |
19: 47,101,637 (GRCm39) |
V941M |
possibly damaging |
Het |
Pdzd8 |
C |
A |
19: 59,288,358 (GRCm39) |
R1014L |
probably damaging |
Het |
Ppm1h |
T |
G |
10: 122,740,018 (GRCm39) |
D364E |
probably benign |
Het |
Rigi |
C |
A |
4: 40,225,104 (GRCm39) |
A298S |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,415,107 (GRCm39) |
N2002D |
probably benign |
Het |
Sall1 |
C |
T |
8: 89,768,979 (GRCm39) |
|
probably null |
Het |
Scn10a |
C |
T |
9: 119,477,198 (GRCm39) |
W728* |
probably null |
Het |
Setdb2 |
G |
T |
14: 59,656,813 (GRCm39) |
T168K |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,137,276 (GRCm39) |
I97V |
probably benign |
Het |
Slc8a3 |
A |
T |
12: 81,361,325 (GRCm39) |
M498K |
probably benign |
Het |
Smpd4 |
A |
T |
16: 17,456,497 (GRCm39) |
E362D |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,940,529 (GRCm39) |
K881* |
probably null |
Het |
Strn4 |
A |
G |
7: 16,564,309 (GRCm39) |
E313G |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,890 (GRCm39) |
N306I |
possibly damaging |
Het |
Tdrd6 |
G |
T |
17: 43,935,730 (GRCm39) |
R1773S |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,897,321 (GRCm39) |
E729G |
probably damaging |
Het |
Tnfrsf23 |
G |
A |
7: 143,224,572 (GRCm39) |
T135I |
probably damaging |
Het |
Tollip |
A |
G |
7: 141,438,276 (GRCm39) |
M218T |
probably benign |
Het |
Tyk2 |
A |
T |
9: 21,031,554 (GRCm39) |
|
probably null |
Het |
Ubr2 |
G |
A |
17: 47,296,974 (GRCm39) |
R269C |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,185,806 (GRCm39) |
M1459K |
possibly damaging |
Het |
Usp48 |
T |
C |
4: 137,321,763 (GRCm39) |
S24P |
probably benign |
Het |
Vmn1r214 |
G |
A |
13: 23,218,631 (GRCm39) |
E42K |
not run |
Het |
Vmn1r83 |
G |
T |
7: 12,055,360 (GRCm39) |
D232E |
probably benign |
Het |
Vmn2r25 |
C |
T |
6: 123,800,339 (GRCm39) |
V668I |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,463,991 (GRCm39) |
I281T |
probably damaging |
Het |
Ywhag |
A |
T |
5: 135,940,043 (GRCm39) |
Y184N |
probably damaging |
Het |
Zdbf2 |
A |
C |
1: 63,347,535 (GRCm39) |
E1971D |
possibly damaging |
Het |
Zfp568 |
G |
A |
7: 29,722,839 (GRCm39) |
A595T |
possibly damaging |
Het |
Zfy2 |
T |
C |
Y: 2,117,083 (GRCm39) |
D248G |
probably benign |
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 |
|
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'- AAACACATGGGTTCTGGCC -3'
(R):5'- TGATTGCCCTGCAGATATGGC -3'
Sequencing Primer
(F):5'- TGCTGCGGTCATAGACAGAC -3'
(R):5'- CCTGCAGATATGGCGTGATC -3'
|
Posted On |
2019-11-26 |