Incidental Mutation 'R5748:Upf1'
| ID |
445869 |
| 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 |
043355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R5748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70784175-70805928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70791167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 525
(L525P)
|
| 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: L536P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075089
Gene: ENSMUSG00000058301
AA Change: L536P
| 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: L525P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9686 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,739,447 (GRCm39) |
Q285R |
probably damaging |
Het |
| Acy1 |
T |
A |
9: 106,313,926 (GRCm39) |
N78I |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,249,230 (GRCm39) |
K166E |
probably damaging |
Het |
| C1qtnf4 |
A |
G |
2: 90,719,877 (GRCm39) |
D50G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 45,692,818 (GRCm39) |
T100A |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,406 (GRCm39) |
R143C |
probably damaging |
Het |
| Dhx16 |
T |
C |
17: 36,194,206 (GRCm39) |
L439P |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,898 (GRCm39) |
V257A |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,597,793 (GRCm39) |
L16Q |
probably null |
Het |
| Eml5 |
T |
A |
12: 98,791,814 (GRCm39) |
Y1234F |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,200,702 (GRCm39) |
D793G |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,751,778 (GRCm39) |
Y324H |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,112,591 (GRCm39) |
S852C |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,307,823 (GRCm39) |
T83A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,677 (GRCm39) |
L155P |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,759 (GRCm39) |
D107V |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,501,825 (GRCm39) |
H253Q |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,982,032 (GRCm39) |
Y30C |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,731,510 (GRCm39) |
R62H |
probably damaging |
Het |
| Mrgpra2b |
A |
G |
7: 47,152,280 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
A |
11: 6,548,370 (GRCm39) |
K1426* |
probably null |
Het |
| Ndufb6 |
A |
G |
4: 40,279,234 (GRCm39) |
L35S |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,809,581 (GRCm39) |
K260M |
probably damaging |
Het |
| Nkapl |
A |
G |
13: 21,651,779 (GRCm39) |
I278T |
probably benign |
Het |
| Nrbp2 |
T |
C |
15: 75,961,332 (GRCm39) |
E263G |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,471,338 (GRCm39) |
L110Q |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,293 (GRCm39) |
N141S |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,797,721 (GRCm39) |
I199T |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,314 (GRCm38) |
Y256C |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,498,146 (GRCm39) |
M28K |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,379 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,418,815 (GRCm39) |
I221F |
probably damaging |
Het |
| Polr2m |
C |
T |
9: 71,390,918 (GRCm39) |
D95N |
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,665 (GRCm39) |
D362V |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,758,855 (GRCm39) |
I308N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rundc3a |
G |
A |
11: 102,290,225 (GRCm39) |
E189K |
possibly damaging |
Het |
| Scaf1 |
A |
C |
7: 44,662,230 (GRCm39) |
|
probably null |
Het |
| Scaper |
T |
C |
9: 55,766,360 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
C |
T |
3: 144,418,410 (GRCm39) |
C51Y |
probably damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,391 (GRCm39) |
T90A |
probably benign |
Het |
| Slc17a3 |
T |
A |
13: 24,040,449 (GRCm39) |
S336T |
probably damaging |
Het |
| Slc41a2 |
C |
A |
10: 83,133,023 (GRCm39) |
C341F |
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,068,127 (GRCm39) |
*67W |
probably null |
Het |
| Stap2 |
C |
T |
17: 56,307,475 (GRCm39) |
|
probably null |
Het |
| Stt3a |
A |
T |
9: 36,663,696 (GRCm39) |
M182K |
probably benign |
Het |
| Tcfl5 |
G |
A |
2: 180,284,050 (GRCm39) |
|
silent |
Het |
| Tmx3 |
T |
C |
18: 90,555,225 (GRCm39) |
V314A |
probably benign |
Het |
| Wdr6 |
T |
C |
9: 108,452,981 (GRCm39) |
I301V |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,107,025 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
C |
13: 67,973,450 (GRCm39) |
Y160H |
probably 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 |
|
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'- TCATCCTTTAGCTGCTGCAG -3'
(R):5'- ACAGGAGGCTTTGCTTGTTC -3'
Sequencing Primer
(F):5'- TTCTGCAGCTCAGGCATG -3'
(R):5'- CTTGTTCTGCCTTGGCATG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation