Incidental Mutation 'R1562:Upf1'
| ID |
170682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upf1
|
| Ensembl Gene |
ENSMUSG00000058301 |
| Gene Name |
UPF1 regulator of nonsense transcripts homolog (yeast) |
| Synonyms |
B430202H16Rik, PNORF-1, Rent1 |
| MMRRC Submission |
039601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R1562 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70331525-70353278 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 70343367 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 138
(W138*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075666]
[ENSMUST00000215817]
|
| AlphaFold |
Q9EPU0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075666
AA Change: W138*
|
| SMART Domains |
Protein: ENSMUSP00000075089
Gene: ENSMUSG00000058301
AA Change: W138*
| 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 null
Transcript: ENSMUST00000215817
AA Change: W138*
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016K19Rik |
A |
T |
11: 76,003,198 (GRCm38) |
I134F |
probably damaging |
Het |
| Abca2 |
A |
G |
2: 25,446,319 (GRCm38) |
I2201V |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,095,007 (GRCm38) |
N817S |
probably damaging |
Het |
| Alox12 |
C |
A |
11: 70,250,165 (GRCm38) |
R348L |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,853,506 (GRCm38) |
T285S |
probably benign |
Het |
| Casp4 |
T |
C |
9: 5,324,733 (GRCm38) |
S182P |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 135,238,394 (GRCm38) |
M985T |
possibly damaging |
Het |
| Clcn1 |
C |
T |
6: 42,300,235 (GRCm38) |
P420L |
probably benign |
Het |
| Coro2a |
T |
C |
4: 46,548,917 (GRCm38) |
I126V |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,427,967 (GRCm38) |
Y1181C |
probably damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,373,978 (GRCm38) |
L147Q |
probably damaging |
Het |
| D430042O09Rik |
C |
A |
7: 125,842,848 (GRCm38) |
S643Y |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,949,187 (GRCm38) |
R28W |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,735,963 (GRCm38) |
R342C |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,309,974 (GRCm38) |
N758S |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,163,016 (GRCm38) |
D15G |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,344,513 (GRCm38) |
E803G |
probably damaging |
Het |
| Folr1 |
T |
G |
7: 101,858,594 (GRCm38) |
D213A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,979,922 (GRCm38) |
V359A |
probably damaging |
Het |
| Gabrb3 |
C |
T |
7: 57,765,514 (GRCm38) |
R111* |
probably null |
Het |
| Gm17324 |
T |
C |
9: 78,448,682 (GRCm38) |
|
probably benign |
Het |
| Hormad2 |
A |
T |
11: 4,408,848 (GRCm38) |
|
probably null |
Het |
| Ifi27l2b |
T |
A |
12: 103,456,521 (GRCm38) |
|
probably null |
Het |
| Isg20 |
G |
T |
7: 78,920,143 (GRCm38) |
C176F |
probably benign |
Het |
| Krt15 |
C |
A |
11: 100,133,181 (GRCm38) |
V346L |
probably benign |
Het |
| Med13l |
A |
G |
5: 118,738,519 (GRCm38) |
K920R |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,266,920 (GRCm38) |
F831I |
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,534,337 (GRCm38) |
S267P |
probably benign |
Het |
| Mybpc1 |
C |
T |
10: 88,553,331 (GRCm38) |
A406T |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,211,370 (GRCm38) |
M829T |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,780,411 (GRCm38) |
Q209R |
possibly damaging |
Het |
| Nceh1 |
T |
A |
3: 27,239,552 (GRCm38) |
V153D |
probably damaging |
Het |
| Olfr1195 |
T |
A |
2: 88,683,079 (GRCm38) |
I218F |
probably benign |
Het |
| Olfr348 |
A |
G |
2: 36,786,684 (GRCm38) |
D53G |
probably damaging |
Het |
| Olfr694 |
C |
T |
7: 106,688,980 (GRCm38) |
M250I |
probably benign |
Het |
| Olfr898 |
C |
A |
9: 38,349,362 (GRCm38) |
S87* |
probably null |
Het |
| Oog3 |
A |
T |
4: 144,162,599 (GRCm38) |
I3N |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,367,330 (GRCm38) |
T2646M |
probably benign |
Het |
| Phf10 |
A |
T |
17: 14,946,250 (GRCm38) |
C453S |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,970,447 (GRCm38) |
|
probably null |
Het |
| Plekhh1 |
A |
G |
12: 79,076,708 (GRCm38) |
H1185R |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,826,854 (GRCm38) |
V404L |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,339,467 (GRCm38) |
D1122E |
probably benign |
Het |
| Rars |
A |
G |
11: 35,821,094 (GRCm38) |
|
probably null |
Het |
| Rasa2 |
G |
T |
9: 96,545,750 (GRCm38) |
N687K |
possibly damaging |
Het |
| Rbm11 |
A |
G |
16: 75,596,535 (GRCm38) |
T40A |
probably damaging |
Het |
| Rem2 |
T |
C |
14: 54,476,318 (GRCm38) |
V16A |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,150,391 (GRCm38) |
M574K |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,694,217 (GRCm38) |
V186D |
possibly damaging |
Het |
| Sertad3 |
G |
A |
7: 27,476,623 (GRCm38) |
E161K |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,385,893 (GRCm38) |
S278P |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,633,618 (GRCm38) |
T400A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,382,385 (GRCm38) |
I402N |
probably damaging |
Het |
| Synj1 |
C |
T |
16: 90,987,402 (GRCm38) |
V283I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,494,066 (GRCm38) |
|
probably null |
Het |
| Ttpal |
A |
G |
2: 163,615,403 (GRCm38) |
N265S |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,637,957 (GRCm38) |
G2015D |
probably damaging |
Het |
| Vmn1r25 |
T |
G |
6: 57,978,801 (GRCm38) |
M168L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,586,836 (GRCm38) |
F24Y |
probably benign |
Het |
| Vmn2r4 |
G |
T |
3: 64,389,444 (GRCm38) |
T640N |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,803,870 (GRCm38) |
|
probably null |
Het |
| Zdbf2 |
T |
G |
1: 63,303,588 (GRCm38) |
S375R |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,204,392 (GRCm38) |
Q99R |
probably benign |
Het |
| Zfp964 |
C |
T |
8: 69,663,004 (GRCm38) |
P85S |
probably benign |
Het |
|
| Other mutations in Upf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Upf1
|
APN |
8 |
70,338,284 (GRCm38) |
missense |
probably benign |
|
|
IGL01890:Upf1
|
APN |
8 |
70,334,230 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02534:Upf1
|
APN |
8 |
70,335,652 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03142:Upf1
|
APN |
8 |
70,333,327 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL03151:Upf1
|
APN |
8 |
70,335,387 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Nanosphere
|
UTSW |
8 |
70,344,262 (GRCm38) |
missense |
probably benign |
0.01 |
|
Particulate
|
UTSW |
8 |
70,337,025 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0270:Upf1
|
UTSW |
8 |
70,335,645 (GRCm38) |
splice site |
probably benign |
|
|
R0477:Upf1
|
UTSW |
8 |
70,334,080 (GRCm38) |
missense |
probably benign |
|
|
R0755:Upf1
|
UTSW |
8 |
70,334,129 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1018:Upf1
|
UTSW |
8 |
70,338,906 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1067:Upf1
|
UTSW |
8 |
70,338,403 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1445:Upf1
|
UTSW |
8 |
70,341,524 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1458:Upf1
|
UTSW |
8 |
70,344,254 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1511:Upf1
|
UTSW |
8 |
70,338,505 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1552:Upf1
|
UTSW |
8 |
70,333,059 (GRCm38) |
nonsense |
probably null |
|
|
R1560:Upf1
|
UTSW |
8 |
70,338,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2082:Upf1
|
UTSW |
8 |
70,341,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2143:Upf1
|
UTSW |
8 |
70,339,354 (GRCm38) |
missense |
probably null |
1.00 |
|
R2423:Upf1
|
UTSW |
8 |
70,338,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2425:Upf1
|
UTSW |
8 |
70,338,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3031:Upf1
|
UTSW |
8 |
70,338,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3032:Upf1
|
UTSW |
8 |
70,338,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3123:Upf1
|
UTSW |
8 |
70,337,483 (GRCm38) |
splice site |
probably benign |
|
|
R3508:Upf1
|
UTSW |
8 |
70,338,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3747:Upf1
|
UTSW |
8 |
70,333,350 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R3748:Upf1
|
UTSW |
8 |
70,333,350 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R3750:Upf1
|
UTSW |
8 |
70,333,350 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R3754:Upf1
|
UTSW |
8 |
70,339,814 (GRCm38) |
missense |
probably benign |
0.30 |
|
R3964:Upf1
|
UTSW |
8 |
70,338,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3965:Upf1
|
UTSW |
8 |
70,338,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4152:Upf1
|
UTSW |
8 |
70,338,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4505:Upf1
|
UTSW |
8 |
70,337,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4506:Upf1
|
UTSW |
8 |
70,337,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4838:Upf1
|
UTSW |
8 |
70,339,368 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5001:Upf1
|
UTSW |
8 |
70,334,700 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5715:Upf1
|
UTSW |
8 |
70,352,978 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5748:Upf1
|
UTSW |
8 |
70,338,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5856:Upf1
|
UTSW |
8 |
70,334,762 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5930:Upf1
|
UTSW |
8 |
70,344,262 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6010:Upf1
|
UTSW |
8 |
70,337,025 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6056:Upf1
|
UTSW |
8 |
70,333,037 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6870:Upf1
|
UTSW |
8 |
70,341,561 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7205:Upf1
|
UTSW |
8 |
70,340,045 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7385:Upf1
|
UTSW |
8 |
70,340,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7464:Upf1
|
UTSW |
8 |
70,333,423 (GRCm38) |
missense |
probably benign |
|
|
R7759:Upf1
|
UTSW |
8 |
70,334,080 (GRCm38) |
missense |
probably benign |
|
|
R7783:Upf1
|
UTSW |
8 |
70,352,858 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8079:Upf1
|
UTSW |
8 |
70,338,884 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8192:Upf1
|
UTSW |
8 |
70,340,644 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8544:Upf1
|
UTSW |
8 |
70,337,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8738:Upf1
|
UTSW |
8 |
70,333,323 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8738:Upf1
|
UTSW |
8 |
70,333,322 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8826:Upf1
|
UTSW |
8 |
70,338,280 (GRCm38) |
missense |
probably benign |
|
|
R8876:Upf1
|
UTSW |
8 |
70,344,268 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8906:Upf1
|
UTSW |
8 |
70,334,165 (GRCm38) |
nonsense |
probably null |
|
|
R8911:Upf1
|
UTSW |
8 |
70,338,437 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9163:Upf1
|
UTSW |
8 |
70,340,024 (GRCm38) |
missense |
probably benign |
|
|
R9425:Upf1
|
UTSW |
8 |
70,339,353 (GRCm38) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACACGCCACCATCTGTTTCAAG -3'
(R):5'- TGGTTGCACAGTACCTGCCTTC -3'
Sequencing Primer
(F):5'- GTTTCAAGTTACACCAGTCAAAGGG -3'
(R):5'- AGGTGCTCCCACAACCTTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation