Incidental Mutation 'R9425:Upf1'
| ID |
712574 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R9425 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70784175-70805928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70792003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 418
(D418E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075666]
[ENSMUST00000215817]
|
| AlphaFold |
Q9EPU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075666
AA Change: D418E
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000075089
Gene: ENSMUSG00000058301
AA Change: D418E
| 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 benign
Transcript: ENSMUST00000215817
AA Change: D407E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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 |
|---|
| Abca4 |
G |
C |
3: 121,926,344 (GRCm39) |
S1260T |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,576,094 (GRCm39) |
I41V |
probably benign |
Het |
| Adgrf1 |
A |
G |
17: 43,621,274 (GRCm39) |
I504V |
possibly damaging |
Het |
| Agtrap |
A |
G |
4: 148,165,019 (GRCm39) |
I136T |
probably damaging |
Het |
| Arhgef7 |
C |
T |
8: 11,867,736 (GRCm39) |
T601I |
probably damaging |
Het |
| Asb7 |
T |
C |
7: 66,328,987 (GRCm39) |
I18V |
possibly damaging |
Het |
| C1rl |
T |
C |
6: 124,485,322 (GRCm39) |
V231A |
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,832,057 (GRCm39) |
T740S |
probably benign |
Het |
| Ccdc146 |
T |
A |
5: 21,508,135 (GRCm39) |
I638F |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,601,163 (GRCm39) |
N407S |
probably benign |
Het |
| Clec7a |
G |
A |
6: 129,442,514 (GRCm39) |
S126L |
probably damaging |
Het |
| Copb1 |
C |
T |
7: 113,848,182 (GRCm39) |
G118R |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,525,148 (GRCm39) |
M449K |
probably damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,423,880 (GRCm39) |
C815S |
probably damaging |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,006 (GRCm39) |
L253P |
probably damaging |
Het |
| Cyp3a44 |
C |
A |
5: 145,740,548 (GRCm39) |
G31* |
probably null |
Het |
| Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
| Dmgdh |
A |
T |
13: 93,880,813 (GRCm39) |
I748L |
probably benign |
Het |
| Drc1 |
T |
A |
5: 30,502,938 (GRCm39) |
W154R |
probably benign |
Het |
| E330034G19Rik |
T |
A |
14: 24,358,387 (GRCm39) |
|
probably null |
Het |
| Gbp7 |
T |
A |
3: 142,248,718 (GRCm39) |
V327E |
probably damaging |
Het |
| Gm11564 |
G |
A |
11: 99,706,065 (GRCm39) |
P122S |
unknown |
Het |
| Grid2ip |
C |
A |
5: 143,367,435 (GRCm39) |
S615R |
|
Het |
| Kcp |
T |
A |
6: 29,489,151 (GRCm39) |
Q1045L |
probably benign |
Het |
| Lgals3bp |
T |
A |
11: 118,284,751 (GRCm39) |
E276V |
probably damaging |
Het |
| Lrit1 |
T |
C |
14: 36,784,208 (GRCm39) |
V512A |
possibly damaging |
Het |
| Mecom |
T |
A |
3: 30,039,597 (GRCm39) |
H154L |
probably benign |
Het |
| Mmp14 |
C |
A |
14: 54,677,804 (GRCm39) |
T475K |
probably damaging |
Het |
| Mmp1a |
T |
G |
9: 7,476,210 (GRCm39) |
F436V |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,795,801 (GRCm39) |
S830G |
probably benign |
Het |
| Oas1b |
T |
C |
5: 120,955,693 (GRCm39) |
L158P |
probably benign |
Het |
| Odf4 |
A |
G |
11: 68,813,810 (GRCm39) |
V126A |
probably benign |
Het |
| Olfml2a |
A |
G |
2: 38,847,721 (GRCm39) |
T427A |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,473 (GRCm39) |
Y125C |
probably damaging |
Het |
| Or4c102 |
C |
A |
2: 88,422,877 (GRCm39) |
T243K |
probably damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,222 (GRCm39) |
L106F |
probably damaging |
Het |
| Or6d12 |
G |
A |
6: 116,493,574 (GRCm39) |
E279K |
possibly damaging |
Het |
| Or8b42 |
A |
G |
9: 38,342,286 (GRCm39) |
K236R |
possibly damaging |
Het |
| Panx3 |
G |
A |
9: 37,572,393 (GRCm39) |
H386Y |
probably benign |
Het |
| Papss1 |
C |
A |
3: 131,270,708 (GRCm39) |
C8* |
probably null |
Het |
| Papss2 |
G |
T |
19: 32,615,750 (GRCm39) |
V161L |
possibly damaging |
Het |
| Pcdh18 |
G |
T |
3: 49,709,051 (GRCm39) |
H755N |
possibly damaging |
Het |
| Pilrb2 |
G |
C |
5: 137,866,964 (GRCm39) |
H180D |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,264 (GRCm39) |
D645G |
possibly damaging |
Het |
| Pnlip |
A |
T |
19: 58,669,290 (GRCm39) |
K430* |
probably null |
Het |
| Ralbp1 |
C |
A |
17: 66,171,506 (GRCm39) |
A156S |
possibly damaging |
Het |
| Rnf4 |
C |
T |
5: 34,508,641 (GRCm39) |
R168C |
probably benign |
Het |
| Slc17a5 |
C |
T |
9: 78,484,457 (GRCm39) |
G127E |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,874,156 (GRCm39) |
N306K |
probably damaging |
Het |
| Slc5a9 |
G |
A |
4: 111,734,803 (GRCm39) |
R664C |
probably damaging |
Het |
| Slco1b2 |
T |
A |
6: 141,603,249 (GRCm39) |
I210K |
possibly damaging |
Het |
| Snx16 |
C |
T |
3: 10,499,520 (GRCm39) |
R170H |
probably damaging |
Het |
| Speer4e1 |
T |
C |
5: 14,987,136 (GRCm39) |
I90V |
possibly damaging |
Het |
| Stxbp5l |
T |
C |
16: 36,994,706 (GRCm39) |
D733G |
possibly damaging |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,382 (GRCm39) |
V254A |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,149,293 (GRCm39) |
F485L |
probably benign |
Het |
| Tnks |
G |
A |
8: 35,340,819 (GRCm39) |
L396F |
probably damaging |
Het |
| Trabd |
T |
C |
15: 88,969,496 (GRCm39) |
C230R |
probably damaging |
Het |
| Trp53rkb |
C |
T |
2: 166,637,542 (GRCm39) |
A166V |
probably benign |
Het |
| Ust |
A |
C |
10: 8,205,873 (GRCm39) |
S137A |
probably damaging |
Het |
| Zfp513 |
T |
A |
5: 31,357,695 (GRCm39) |
H228L |
possibly damaging |
Het |
| Zfp827 |
C |
A |
8: 79,905,588 (GRCm39) |
A855E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCAGCTTGTGGTAAATATAC -3'
(R):5'- TGTGTGAGTGAAACAGCCTGG -3'
Sequencing Primer
(F):5'- TATACCCTGACACAGAGGTCTCGTC -3'
(R):5'- TGAAACAGCCTGGAGTCTGTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation