Incidental Mutation 'R3965:Upf1'
ID |
312304 |
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 |
040934-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.972)
|
Stock # |
R3965 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70784175-70805928 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70791110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 544
(R544H)
|
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: R555H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075089 Gene: ENSMUSG00000058301 AA Change: R555H
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: R544H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.8963 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (49/49) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
Ccdc121 |
T |
A |
5: 31,645,335 (GRCm39) |
C363S |
probably benign |
Het |
Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
Cfap74 |
T |
A |
4: 155,531,174 (GRCm39) |
M809K |
probably damaging |
Het |
Clic6 |
T |
C |
16: 92,295,732 (GRCm39) |
S131P |
probably benign |
Het |
Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dlec1 |
A |
G |
9: 118,957,649 (GRCm39) |
I878V |
probably benign |
Het |
Elapor1 |
T |
C |
3: 108,365,765 (GRCm39) |
D998G |
probably damaging |
Het |
Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
Ewsr1 |
T |
C |
11: 5,033,476 (GRCm39) |
Y232C |
unknown |
Het |
Exoc2 |
G |
A |
13: 31,061,565 (GRCm39) |
S492L |
probably benign |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Grin2c |
G |
A |
11: 115,151,820 (GRCm39) |
R47W |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,895,557 (GRCm39) |
T1670A |
probably benign |
Het |
Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
Mia2 |
T |
A |
12: 59,223,158 (GRCm39) |
S489T |
probably damaging |
Het |
Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
Nckap1l |
T |
A |
15: 103,373,016 (GRCm39) |
C276* |
probably null |
Het |
Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
Oas1c |
A |
G |
5: 120,946,783 (GRCm39) |
F16L |
probably damaging |
Het |
Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
Or1ab2 |
G |
A |
8: 72,864,108 (GRCm39) |
G233R |
probably damaging |
Het |
Or5b123 |
T |
C |
19: 13,596,565 (GRCm39) |
L13P |
probably damaging |
Het |
Or8b51 |
G |
A |
9: 38,569,023 (GRCm39) |
L222F |
probably benign |
Het |
Pik3c2g |
A |
G |
6: 139,801,018 (GRCm39) |
M388V |
possibly damaging |
Het |
Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
Ppp6r2 |
A |
G |
15: 89,143,317 (GRCm39) |
K155E |
probably benign |
Het |
Rxra |
T |
A |
2: 27,642,318 (GRCm39) |
|
probably benign |
Het |
Susd5 |
A |
G |
9: 113,925,260 (GRCm39) |
E381G |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,662 (GRCm39) |
T82A |
possibly damaging |
Het |
Syt14 |
A |
T |
1: 192,584,175 (GRCm39) |
H413Q |
probably benign |
Het |
Tg |
T |
A |
15: 66,556,039 (GRCm39) |
D910E |
probably benign |
Het |
Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
Tpcn1 |
G |
T |
5: 120,694,640 (GRCm39) |
T143K |
probably damaging |
Het |
Trbv5 |
G |
T |
6: 41,039,342 (GRCm39) |
|
probably benign |
Het |
Trhr |
T |
A |
15: 44,061,095 (GRCm39) |
I205N |
possibly damaging |
Het |
Trp73 |
A |
G |
4: 154,146,493 (GRCm39) |
V422A |
probably benign |
Het |
Trpc6 |
G |
A |
9: 8,626,622 (GRCm39) |
C324Y |
probably damaging |
Het |
Zfhx4 |
G |
T |
3: 5,468,907 (GRCm39) |
V3022F |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,763,141 (GRCm39) |
V347I |
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 |
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'- ATCTGCAGATGACAGCTCGC -3'
(R):5'- CATGGCTGTACCTGCCTATTACAG -3'
Sequencing Primer
(F):5'- GTCTCATCCTTTAGCTGCTGCAG -3'
(R):5'- TGCCTATTACAGCTGTGCAG -3'
|
Posted On |
2015-04-29 |