Incidental Mutation 'R6432:Upf2'
| ID |
518577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upf2
|
| Ensembl Gene |
ENSMUSG00000043241 |
| Gene Name |
UPF2 regulator of nonsense transcripts homolog (yeast) |
| Synonyms |
|
| MMRRC Submission |
044570-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6432 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
5956280-6061514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 5984588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 501
(A501E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060092]
|
| AlphaFold |
A2AT37 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000060092
AA Change: A501E
|
| SMART Domains |
Protein: ENSMUSP00000058375
Gene: ENSMUSG00000043241
AA Change: A501E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
125 |
N/A |
INTRINSIC |
|
MIF4G
|
167 |
363 |
1.22e-32 |
SMART |
|
coiled coil region
|
514 |
543 |
N/A |
INTRINSIC |
|
MIF4G
|
567 |
756 |
1.13e-50 |
SMART |
|
MIF4G
|
771 |
984 |
3.43e-50 |
SMART |
|
low complexity region
|
1023 |
1042 |
N/A |
INTRINSIC |
|
Pfam:Upf2
|
1051 |
1215 |
1.5e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.0703 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
100% (42/42) |
| 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 in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
T |
A |
3: 105,814,991 (GRCm39) |
L101* |
probably null |
Het |
| Atf7ip2 |
T |
C |
16: 10,022,534 (GRCm39) |
I71T |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,322,512 (GRCm39) |
C206R |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,411 (GRCm39) |
L606P |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,639 (GRCm39) |
F574L |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,846,601 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,668,847 (GRCm39) |
E126* |
probably null |
Het |
| Cxadr |
A |
C |
16: 78,122,147 (GRCm39) |
D49A |
probably damaging |
Het |
| Dact1 |
T |
C |
12: 71,365,327 (GRCm39) |
S703P |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,178,425 (GRCm39) |
H1159Q |
possibly damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,952,399 (GRCm39) |
F697I |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Ear2 |
G |
T |
14: 44,340,660 (GRCm39) |
C106F |
probably damaging |
Het |
| Gnl2 |
A |
T |
4: 124,946,353 (GRCm39) |
I525F |
possibly damaging |
Het |
| Hsph1 |
C |
A |
5: 149,542,441 (GRCm39) |
K692N |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,664,116 (GRCm39) |
C489S |
possibly damaging |
Het |
| Kdm2b |
C |
T |
5: 123,018,254 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ly6m |
T |
C |
15: 74,751,813 (GRCm39) |
T74A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,185 (GRCm39) |
S22G |
possibly damaging |
Het |
| Ms4a12 |
A |
G |
19: 11,192,376 (GRCm39) |
*264Q |
probably null |
Het |
| Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,955,805 (GRCm39) |
N131K |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,933,824 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
| Rbm14 |
G |
T |
19: 4,853,191 (GRCm39) |
|
probably benign |
Het |
| Rnf130 |
T |
A |
11: 49,986,617 (GRCm39) |
C320* |
probably null |
Het |
| Rnf5 |
A |
G |
17: 34,821,101 (GRCm39) |
V77A |
possibly damaging |
Het |
| Sh3pxd2a |
G |
T |
19: 47,258,366 (GRCm39) |
P418T |
probably damaging |
Het |
| Shank3 |
G |
T |
15: 89,387,616 (GRCm39) |
V262F |
possibly damaging |
Het |
| Six5 |
T |
A |
7: 18,830,696 (GRCm39) |
V441E |
probably damaging |
Het |
| Tbc1d9b |
T |
A |
11: 50,037,155 (GRCm39) |
I268N |
probably benign |
Het |
| Terb1 |
G |
A |
8: 105,212,078 (GRCm39) |
T301I |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,936,891 (GRCm39) |
D2820A |
probably damaging |
Het |
| Tram2 |
C |
T |
1: 21,074,457 (GRCm39) |
E242K |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,793 (GRCm39) |
K210E |
probably damaging |
Het |
| Tulp2 |
T |
A |
7: 45,168,012 (GRCm39) |
D141E |
probably benign |
Het |
| Umodl1 |
C |
T |
17: 31,205,121 (GRCm39) |
T572I |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,483 (GRCm39) |
T537A |
possibly damaging |
Het |
| Wdr11 |
T |
A |
7: 129,208,242 (GRCm39) |
D332E |
possibly damaging |
Het |
| Wdr38 |
A |
G |
2: 38,890,723 (GRCm39) |
N199S |
probably damaging |
Het |
| Zfp672 |
T |
A |
11: 58,207,758 (GRCm39) |
I188F |
possibly damaging |
Het |
|
| Other mutations in Upf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Upf2
|
APN |
2 |
5,966,111 (GRCm39) |
missense |
unknown |
|
|
IGL01394:Upf2
|
APN |
2 |
6,045,024 (GRCm39) |
splice site |
probably null |
|
|
IGL01571:Upf2
|
APN |
2 |
6,023,750 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01624:Upf2
|
APN |
2 |
6,038,990 (GRCm39) |
missense |
probably benign |
|
|
IGL02121:Upf2
|
APN |
2 |
6,031,134 (GRCm39) |
splice site |
probably benign |
|
|
IGL02485:Upf2
|
APN |
2 |
6,032,102 (GRCm39) |
missense |
unknown |
|
|
IGL02491:Upf2
|
APN |
2 |
6,030,975 (GRCm39) |
missense |
unknown |
|
|
Balderdash
|
UTSW |
2 |
5,978,347 (GRCm39) |
missense |
unknown |
|
|
nonsense
|
UTSW |
2 |
6,051,845 (GRCm39) |
missense |
unknown |
|
|
R0265:Upf2
|
UTSW |
2 |
6,032,015 (GRCm39) |
splice site |
probably benign |
|
|
R0390:Upf2
|
UTSW |
2 |
6,023,705 (GRCm39) |
unclassified |
probably benign |
|
|
R0480:Upf2
|
UTSW |
2 |
5,962,445 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0513:Upf2
|
UTSW |
2 |
5,962,478 (GRCm39) |
missense |
unknown |
|
|
R0579:Upf2
|
UTSW |
2 |
5,993,240 (GRCm39) |
missense |
unknown |
|
|
R0612:Upf2
|
UTSW |
2 |
6,038,909 (GRCm39) |
splice site |
probably benign |
|
|
R0856:Upf2
|
UTSW |
2 |
5,962,463 (GRCm39) |
missense |
unknown |
|
|
R1103:Upf2
|
UTSW |
2 |
6,030,986 (GRCm39) |
missense |
unknown |
|
|
R1384:Upf2
|
UTSW |
2 |
5,965,800 (GRCm39) |
missense |
unknown |
|
|
R1672:Upf2
|
UTSW |
2 |
6,044,908 (GRCm39) |
splice site |
probably null |
|
|
R1728:Upf2
|
UTSW |
2 |
6,032,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Upf2
|
UTSW |
2 |
6,032,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Upf2
|
UTSW |
2 |
6,055,135 (GRCm39) |
splice site |
probably null |
|
|
R2252:Upf2
|
UTSW |
2 |
5,966,271 (GRCm39) |
missense |
unknown |
|
|
R2339:Upf2
|
UTSW |
2 |
6,044,913 (GRCm39) |
splice site |
probably benign |
|
|
R3015:Upf2
|
UTSW |
2 |
5,980,890 (GRCm39) |
missense |
unknown |
|
|
R3931:Upf2
|
UTSW |
2 |
6,051,821 (GRCm39) |
missense |
unknown |
|
|
R4151:Upf2
|
UTSW |
2 |
5,966,516 (GRCm39) |
missense |
unknown |
|
|
R4283:Upf2
|
UTSW |
2 |
5,978,369 (GRCm39) |
missense |
unknown |
|
|
R4558:Upf2
|
UTSW |
2 |
5,978,404 (GRCm39) |
missense |
unknown |
|
|
R4564:Upf2
|
UTSW |
2 |
6,032,123 (GRCm39) |
missense |
unknown |
|
|
R5630:Upf2
|
UTSW |
2 |
6,032,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6370:Upf2
|
UTSW |
2 |
5,980,821 (GRCm39) |
missense |
unknown |
|
|
R6418:Upf2
|
UTSW |
2 |
6,032,150 (GRCm39) |
missense |
unknown |
|
|
R7184:Upf2
|
UTSW |
2 |
6,028,131 (GRCm39) |
missense |
unknown |
|
|
R7308:Upf2
|
UTSW |
2 |
5,978,329 (GRCm39) |
missense |
unknown |
|
|
R7371:Upf2
|
UTSW |
2 |
5,965,851 (GRCm39) |
missense |
unknown |
|
|
R7404:Upf2
|
UTSW |
2 |
6,045,014 (GRCm39) |
missense |
unknown |
|
|
R7439:Upf2
|
UTSW |
2 |
6,023,743 (GRCm39) |
missense |
unknown |
|
|
R7441:Upf2
|
UTSW |
2 |
6,023,743 (GRCm39) |
missense |
unknown |
|
|
R7461:Upf2
|
UTSW |
2 |
5,978,347 (GRCm39) |
missense |
unknown |
|
|
R7483:Upf2
|
UTSW |
2 |
6,032,219 (GRCm39) |
missense |
unknown |
|
|
R7613:Upf2
|
UTSW |
2 |
5,978,347 (GRCm39) |
missense |
unknown |
|
|
R7976:Upf2
|
UTSW |
2 |
6,030,926 (GRCm39) |
missense |
unknown |
|
|
R8044:Upf2
|
UTSW |
2 |
6,034,249 (GRCm39) |
missense |
unknown |
|
|
R8516:Upf2
|
UTSW |
2 |
6,023,782 (GRCm39) |
missense |
unknown |
|
|
R8880:Upf2
|
UTSW |
2 |
6,030,983 (GRCm39) |
missense |
unknown |
|
|
R8911:Upf2
|
UTSW |
2 |
5,987,893 (GRCm39) |
missense |
unknown |
|
|
R9138:Upf2
|
UTSW |
2 |
6,028,132 (GRCm39) |
missense |
unknown |
|
|
R9226:Upf2
|
UTSW |
2 |
6,051,845 (GRCm39) |
missense |
unknown |
|
|
R9444:Upf2
|
UTSW |
2 |
6,023,755 (GRCm39) |
missense |
unknown |
|
|
R9484:Upf2
|
UTSW |
2 |
5,966,078 (GRCm39) |
missense |
unknown |
|
|
R9665:Upf2
|
UTSW |
2 |
6,051,715 (GRCm39) |
missense |
unknown |
|
|
R9691:Upf2
|
UTSW |
2 |
6,032,024 (GRCm39) |
missense |
unknown |
|
|
Z1176:Upf2
|
UTSW |
2 |
6,028,199 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTAGAAGTTGGGGCCTC -3'
(R):5'- TAAAACCTGGTGACACAGTCCTTTAC -3'
Sequencing Primer
(F):5'- GCTGAAGATCAAGCTTATGGCCTC -3'
(R):5'- GGTGACACAGTCCTTTACCTTGTTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation