Incidental Mutation 'R2082:Upf1'
ID |
230078 |
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 |
040087-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.972)
|
Stock # |
R2082 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70784175-70805928 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70794222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 228
(I228N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075666]
[ENSMUST00000215817]
|
AlphaFold |
Q9EPU0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075666
AA Change: I228N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075089 Gene: ENSMUSG00000058301 AA Change: I228N
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 damaging
Transcript: ENSMUST00000215817
AA Change: I228N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
A |
2: 30,686,391 (GRCm39) |
|
probably null |
Het |
4933427I04Rik |
A |
G |
4: 123,754,769 (GRCm39) |
I228V |
probably benign |
Het |
Aco2 |
T |
C |
15: 81,797,896 (GRCm39) |
W657R |
possibly damaging |
Het |
Acsm2 |
T |
A |
7: 119,179,857 (GRCm39) |
H333Q |
probably benign |
Het |
Adamts18 |
C |
T |
8: 114,501,965 (GRCm39) |
V299I |
probably damaging |
Het |
Adat2 |
G |
A |
10: 13,435,907 (GRCm39) |
C84Y |
probably damaging |
Het |
Arhgef11 |
C |
T |
3: 87,633,303 (GRCm39) |
T690I |
possibly damaging |
Het |
Cachd1 |
A |
G |
4: 100,860,155 (GRCm39) |
D1242G |
probably damaging |
Het |
Casp14 |
A |
G |
10: 78,550,867 (GRCm39) |
M106T |
probably benign |
Het |
Ccdc69 |
T |
A |
11: 54,943,215 (GRCm39) |
I130F |
probably damaging |
Het |
Cdk9 |
A |
G |
2: 32,599,513 (GRCm39) |
L189P |
probably damaging |
Het |
Cfhr1 |
C |
T |
1: 139,478,624 (GRCm39) |
V249I |
possibly damaging |
Het |
Chst1 |
T |
C |
2: 92,444,335 (GRCm39) |
V269A |
possibly damaging |
Het |
Col18a1 |
G |
T |
10: 76,895,127 (GRCm39) |
P1178Q |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,545,430 (GRCm39) |
L1014P |
probably damaging |
Het |
Crisp3 |
T |
C |
17: 40,536,751 (GRCm39) |
Y188C |
probably damaging |
Het |
Dse |
G |
A |
10: 34,031,936 (GRCm39) |
R363C |
probably damaging |
Het |
Exoc5 |
T |
C |
14: 49,253,044 (GRCm39) |
I525V |
probably benign |
Het |
Fech |
A |
T |
18: 64,591,260 (GRCm39) |
I388N |
probably damaging |
Het |
Fmnl1 |
T |
C |
11: 103,082,851 (GRCm39) |
L363P |
probably damaging |
Het |
Gm10842 |
T |
A |
11: 105,037,909 (GRCm39) |
L64Q |
unknown |
Het |
Gm8225 |
C |
A |
17: 26,762,670 (GRCm39) |
P287Q |
possibly damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,659,261 (GRCm39) |
L512H |
probably damaging |
Het |
Ifi30 |
T |
C |
8: 71,216,373 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
A |
T |
6: 90,671,556 (GRCm39) |
D115E |
probably damaging |
Het |
Kcnu1 |
T |
A |
8: 26,411,577 (GRCm39) |
L174H |
probably damaging |
Het |
Krt10 |
A |
G |
11: 99,279,701 (GRCm39) |
V153A |
probably damaging |
Het |
Krt18 |
G |
A |
15: 101,939,455 (GRCm39) |
|
probably null |
Het |
Micu1 |
A |
G |
10: 59,699,129 (GRCm39) |
T469A |
probably benign |
Het |
Mtss2 |
T |
C |
8: 111,452,889 (GRCm39) |
|
probably null |
Het |
Myo10 |
T |
A |
15: 25,786,079 (GRCm39) |
F1253L |
probably damaging |
Het |
N4bp2 |
A |
T |
5: 65,964,908 (GRCm39) |
T986S |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,440,852 (GRCm39) |
|
probably null |
Het |
Nphp4 |
G |
A |
4: 152,643,821 (GRCm39) |
V1117M |
probably benign |
Het |
Oca2 |
C |
A |
7: 55,946,885 (GRCm39) |
Q305K |
probably benign |
Het |
Or56b34 |
C |
T |
7: 104,937,710 (GRCm39) |
Q137* |
probably null |
Het |
Or5k3 |
T |
A |
16: 58,969,248 (GRCm39) |
F12I |
probably damaging |
Het |
Or7g27 |
G |
A |
9: 19,250,574 (GRCm39) |
V273I |
probably benign |
Het |
P2rx7 |
A |
T |
5: 122,782,158 (GRCm39) |
N8Y |
possibly damaging |
Het |
Pag1 |
A |
T |
3: 9,764,545 (GRCm39) |
S203T |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,439 (GRCm39) |
|
probably null |
Het |
Pip4k2c |
T |
C |
10: 127,034,958 (GRCm39) |
D414G |
probably damaging |
Het |
Pkp1 |
T |
G |
1: 135,812,714 (GRCm39) |
Q329P |
possibly damaging |
Het |
Polrmt |
A |
T |
10: 79,579,346 (GRCm39) |
I135N |
probably benign |
Het |
Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
Ppp3cb |
T |
C |
14: 20,558,746 (GRCm39) |
T439A |
possibly damaging |
Het |
Prkdc |
A |
G |
16: 15,533,827 (GRCm39) |
Y1555C |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,553,774 (GRCm39) |
D859G |
probably damaging |
Het |
Sema5a |
T |
A |
15: 32,619,002 (GRCm39) |
M510K |
probably benign |
Het |
Slc22a16 |
A |
G |
10: 40,461,335 (GRCm39) |
E379G |
probably benign |
Het |
Slc30a5 |
C |
A |
13: 100,943,041 (GRCm39) |
|
probably null |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,997,616 (GRCm39) |
S1058C |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,191,488 (GRCm39) |
L982P |
possibly damaging |
Het |
Tmem101 |
G |
T |
11: 102,044,203 (GRCm39) |
T228K |
probably benign |
Het |
Tshz2 |
G |
T |
2: 169,728,135 (GRCm39) |
K441N |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,921,338 (GRCm39) |
I692N |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,679,230 (GRCm39) |
S665P |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,910,892 (GRCm39) |
V3552A |
possibly damaging |
Het |
Vps35 |
A |
T |
8: 85,990,094 (GRCm39) |
M638K |
possibly damaging |
Het |
Vps41 |
T |
G |
13: 19,036,521 (GRCm39) |
I645S |
probably benign |
Het |
Zfp703 |
T |
C |
8: 27,469,016 (GRCm39) |
S227P |
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 |
|
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'- ATCCACTATGTCCCCTGCAG -3'
(R):5'- TGACAGGTCTGCTGTGAAC -3'
Sequencing Primer
(F):5'- TGCAGAGCCCTAGGTCATGTC -3'
(R):5'- TCTGCTGTGAACTGAGGCCAG -3'
|
Posted On |
2014-09-18 |