Incidental Mutation 'R8876:Upf1'
| ID |
676578 |
| 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 |
068688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R8876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70784175-70805928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70796918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 105
(E105G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075666]
[ENSMUST00000215817]
|
| AlphaFold |
Q9EPU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075666
AA Change: E105G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075089
Gene: ENSMUSG00000058301
AA Change: E105G
| 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 |
possibly damaging
Transcript: ENSMUST00000215817
AA Change: E105G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.0945 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (55/56) |
| 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 |
|---|
| Accs |
A |
C |
2: 93,668,403 (GRCm39) |
L356R |
probably damaging |
Het |
| Acvr1 |
A |
T |
2: 58,338,422 (GRCm39) |
D433E |
possibly damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,502 (GRCm39) |
L122P |
probably damaging |
Het |
| Ap3b1 |
T |
G |
13: 94,540,586 (GRCm39) |
N169K |
possibly damaging |
Het |
| Apbb2 |
A |
G |
5: 66,609,000 (GRCm39) |
S216P |
probably benign |
Het |
| Arap3 |
T |
A |
18: 38,130,077 (GRCm39) |
H28L |
possibly damaging |
Het |
| Arhgap44 |
C |
T |
11: 64,898,896 (GRCm39) |
M760I |
possibly damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,975,193 (GRCm39) |
A304S |
probably benign |
Het |
| Atpaf1 |
T |
C |
4: 115,645,548 (GRCm39) |
I139T |
possibly damaging |
Het |
| BC024139 |
G |
T |
15: 76,010,320 (GRCm39) |
T62K |
possibly damaging |
Het |
| Bmal2 |
G |
A |
6: 146,723,492 (GRCm39) |
G274D |
probably benign |
Het |
| Capn5 |
T |
C |
7: 97,780,902 (GRCm39) |
T292A |
probably benign |
Het |
| Card19 |
T |
C |
13: 49,358,814 (GRCm39) |
N53S |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,742,467 (GRCm39) |
V232A |
possibly damaging |
Het |
| Cfap298 |
A |
G |
16: 90,724,281 (GRCm39) |
I164T |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,777,360 (GRCm39) |
T837K |
probably benign |
Het |
| Col8a2 |
G |
C |
4: 126,204,647 (GRCm39) |
G219A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,206,951 (GRCm39) |
S365P |
|
Het |
| Dnah2 |
T |
C |
11: 69,382,348 (GRCm39) |
D1254G |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,420,828 (GRCm39) |
L1686S |
probably damaging |
Het |
| Fgr |
A |
G |
4: 132,726,071 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
A |
2: 4,606,111 (GRCm39) |
S612T |
probably damaging |
Het |
| Gadd45gip1 |
T |
C |
8: 85,560,748 (GRCm39) |
I121T |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,568,560 (GRCm39) |
V1353A |
possibly damaging |
Het |
| Gdf3 |
G |
A |
6: 122,583,942 (GRCm39) |
P142S |
probably damaging |
Het |
| Gm19965 |
G |
A |
1: 116,749,776 (GRCm39) |
G486R |
unknown |
Het |
| Gpatch2l |
T |
C |
12: 86,308,405 (GRCm39) |
L307P |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,561,580 (GRCm39) |
K757E |
probably damaging |
Het |
| Inppl1 |
T |
A |
7: 101,472,750 (GRCm39) |
H1218L |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,873,257 (GRCm39) |
I1055V |
probably benign |
Het |
| Krtap9-5 |
G |
T |
11: 99,840,340 (GRCm39) |
C347F |
unknown |
Het |
| Magi2 |
T |
A |
5: 20,856,190 (GRCm39) |
Y1050* |
probably null |
Het |
| Myrf |
A |
G |
19: 10,206,378 (GRCm39) |
|
probably benign |
Het |
| Ntpcr |
T |
G |
8: 126,464,785 (GRCm39) |
|
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,902,716 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or1p1b |
C |
T |
11: 74,130,846 (GRCm39) |
T152I |
probably damaging |
Het |
| Or2y1c |
T |
C |
11: 49,361,386 (GRCm39) |
M136T |
probably damaging |
Het |
| Palmd |
T |
G |
3: 116,720,899 (GRCm39) |
D145A |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,980,155 (GRCm39) |
S21P |
probably benign |
Het |
| Pkn1 |
T |
C |
8: 84,398,879 (GRCm39) |
T696A |
possibly damaging |
Het |
| Pnpt1 |
T |
A |
11: 29,096,769 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,049,146 (GRCm39) |
I273F |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,323,403 (GRCm39) |
D1382E |
probably benign |
Het |
| Slc16a4 |
A |
T |
3: 107,208,101 (GRCm39) |
N204Y |
probably benign |
Het |
| Slc38a1 |
T |
C |
15: 96,514,091 (GRCm39) |
I44V |
possibly damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,685,166 (GRCm39) |
V312A |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,942,600 (GRCm39) |
Y2C |
probably benign |
Het |
| Syde1 |
A |
T |
10: 78,425,325 (GRCm39) |
Y229N |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,784,489 (GRCm39) |
C1853S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,609,249 (GRCm39) |
I17650T |
possibly damaging |
Het |
| Wrn |
A |
G |
8: 33,814,422 (GRCm39) |
W341R |
probably benign |
Het |
| Xndc1 |
C |
T |
7: 101,729,754 (GRCm39) |
P267L |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,896 (GRCm39) |
T47A |
probably benign |
Het |
| Zc3h10 |
A |
T |
10: 128,380,163 (GRCm39) |
V398E |
probably damaging |
Het |
| Zfp652 |
G |
T |
11: 95,639,921 (GRCm39) |
|
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 |
|
|
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 |
|
|
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'- CCCTGATGGAGCTGATTTAGTC -3'
(R):5'- AGCATAGACCTCAGGAGTGG -3'
Sequencing Primer
(F):5'- GATTTAGTCAGGATCCATGCCCTG -3'
(R):5'- TCAGGAGTGGGGCCTCTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation