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, Rent1, PNORF-1 |
| MMRRC Submission |
039601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R1562 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70784175-70805928 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 70796017 bp (GRCm39)
|
| 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 |
|---|
| Abca2 |
A |
G |
2: 25,336,331 (GRCm39) |
I2201V |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,145,007 (GRCm39) |
N817S |
probably damaging |
Het |
| Alox12 |
C |
A |
11: 70,140,991 (GRCm39) |
R348L |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,559,143 (GRCm39) |
T285S |
probably benign |
Het |
| Casp4 |
T |
C |
9: 5,324,733 (GRCm39) |
S182P |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,944,155 (GRCm39) |
M985T |
possibly damaging |
Het |
| Clcn1 |
C |
T |
6: 42,277,169 (GRCm39) |
P420L |
probably benign |
Het |
| Coro2a |
T |
C |
4: 46,548,917 (GRCm39) |
I126V |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,432,778 (GRCm39) |
Y1181C |
probably damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,258,179 (GRCm39) |
L147Q |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,200,800 (GRCm39) |
N758S |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,163,162 (GRCm39) |
D15G |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,281,323 (GRCm39) |
E803G |
probably damaging |
Het |
| Folr1 |
T |
G |
7: 101,507,801 (GRCm39) |
D213A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,579,094 (GRCm39) |
V359A |
probably damaging |
Het |
| Gabrb3 |
C |
T |
7: 57,415,262 (GRCm39) |
R111* |
probably null |
Het |
| Gm17324 |
T |
C |
9: 78,355,964 (GRCm39) |
|
probably benign |
Het |
| Hormad2 |
A |
T |
11: 4,358,848 (GRCm39) |
|
probably null |
Het |
| Ifi27l2b |
T |
A |
12: 103,422,780 (GRCm39) |
|
probably null |
Het |
| Isg20 |
G |
T |
7: 78,569,891 (GRCm39) |
C176F |
probably benign |
Het |
| Katnip |
C |
A |
7: 125,442,020 (GRCm39) |
S643Y |
probably damaging |
Het |
| Krt15 |
C |
A |
11: 100,024,007 (GRCm39) |
V346L |
probably benign |
Het |
| Liat1 |
A |
T |
11: 75,894,024 (GRCm39) |
I134F |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,876,584 (GRCm39) |
K920R |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,313,694 (GRCm39) |
F831I |
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,771,786 (GRCm39) |
S267P |
probably benign |
Het |
| Mybpc1 |
C |
T |
10: 88,389,193 (GRCm39) |
A406T |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,102,196 (GRCm39) |
M829T |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,780,497 (GRCm39) |
Q209R |
possibly damaging |
Het |
| Nceh1 |
T |
A |
3: 27,293,701 (GRCm39) |
V153D |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,889,169 (GRCm39) |
I3N |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,676,696 (GRCm39) |
D53G |
probably damaging |
Het |
| Or2ag1b |
C |
T |
7: 106,288,187 (GRCm39) |
M250I |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,423 (GRCm39) |
I218F |
probably benign |
Het |
| Or8c20 |
C |
A |
9: 38,260,658 (GRCm39) |
S87* |
probably null |
Het |
| Pcnt |
G |
A |
10: 76,203,164 (GRCm39) |
T2646M |
probably benign |
Het |
| Phf10 |
A |
T |
17: 15,166,512 (GRCm39) |
C453S |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,812,367 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
A |
G |
12: 79,123,482 (GRCm39) |
H1185R |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,602 (GRCm39) |
V404L |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,175,372 (GRCm39) |
D1122E |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,711,921 (GRCm39) |
|
probably null |
Het |
| Rasa2 |
G |
T |
9: 96,427,803 (GRCm39) |
N687K |
possibly damaging |
Het |
| Rbm11 |
A |
G |
16: 75,393,423 (GRCm39) |
T40A |
probably damaging |
Het |
| Rem2 |
T |
C |
14: 54,713,775 (GRCm39) |
V16A |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,007,588 (GRCm39) |
M574K |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,592,098 (GRCm39) |
V186D |
possibly damaging |
Het |
| Sertad3 |
G |
A |
7: 27,176,048 (GRCm39) |
E161K |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,304,130 (GRCm39) |
S278P |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,680,401 (GRCm39) |
T400A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,024,178 (GRCm39) |
I402N |
probably damaging |
Het |
| Synj1 |
C |
T |
16: 90,784,290 (GRCm39) |
V283I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,471,000 (GRCm39) |
|
probably null |
Het |
| Ttpal |
A |
G |
2: 163,457,323 (GRCm39) |
N265S |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,677,116 (GRCm39) |
G2015D |
probably damaging |
Het |
| Vmn1r25 |
T |
G |
6: 57,955,786 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,510,301 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn2r4 |
G |
T |
3: 64,296,865 (GRCm39) |
T640N |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,843,030 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
T |
G |
1: 63,342,747 (GRCm39) |
S375R |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,138 (GRCm39) |
Q99R |
probably benign |
Het |
| Zfp964 |
C |
T |
8: 70,115,654 (GRCm39) |
P85S |
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 |
|
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 |
|
|
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'- TCACACGCCACCATCTGTTTCAAG -3'
(R):5'- TGGTTGCACAGTACCTGCCTTC -3'
Sequencing Primer
(F):5'- GTTTCAAGTTACACCAGTCAAAGGG -3'
(R):5'- AGGTGCTCCCACAACCTTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation