Incidental Mutation 'IGL03142:Upf1'
| ID |
410708 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Upf1
|
| Ensembl Gene |
ENSMUSG00000058301 |
| Gene Name |
UPF1 regulator of nonsense transcripts homolog (yeast) |
| Synonyms |
B430202H16Rik, Rent1, PNORF-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
IGL03142
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70784175-70805928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70785977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 994
(V994A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075666]
[ENSMUST00000140239]
[ENSMUST00000165819]
[ENSMUST00000207684]
[ENSMUST00000215817]
|
| AlphaFold |
Q9EPU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075666
AA Change: V994A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000075089
Gene: ENSMUSG00000058301
AA Change: V994A
| 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: ENSMUST00000140239
|
| SMART Domains |
Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
68 |
N/A |
INTRINSIC |
|
TLC
|
97 |
311 |
1.24e-57 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165819
|
| SMART Domains |
Protein: ENSMUSP00000128325
Gene: ENSMUSG00000087408
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
33 |
169 |
7e-16 |
PFAM |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
TGFB
|
251 |
357 |
6.22e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207684
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215817
AA Change: V983A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc88c |
T |
C |
12: 100,913,457 (GRCm39) |
S523G |
probably damaging |
Het |
| Ccnb1 |
A |
T |
13: 100,920,039 (GRCm39) |
D157E |
probably damaging |
Het |
| Cep43 |
T |
A |
17: 8,411,041 (GRCm39) |
S331R |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,447,283 (GRCm39) |
T1055A |
probably damaging |
Het |
| Fn1 |
C |
A |
1: 71,676,455 (GRCm39) |
R592L |
probably damaging |
Het |
| Frmpd4 |
T |
A |
X: 166,262,479 (GRCm39) |
D550V |
possibly damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,711 (GRCm39) |
V346A |
probably benign |
Het |
| Gm10112 |
C |
T |
X: 110,209,673 (GRCm39) |
T4I |
probably damaging |
Het |
| Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
| Has2 |
A |
T |
15: 56,545,491 (GRCm39) |
I37N |
possibly damaging |
Het |
| Hmgn3 |
A |
G |
9: 83,028,482 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
T |
A |
12: 5,187,603 (GRCm39) |
N254Y |
probably damaging |
Het |
| Kti12 |
A |
G |
4: 108,705,362 (GRCm39) |
Y92C |
probably damaging |
Het |
| Lyset |
G |
A |
12: 102,710,933 (GRCm39) |
S52N |
probably damaging |
Het |
| Mgat5 |
A |
C |
1: 127,339,960 (GRCm39) |
Q447P |
probably damaging |
Het |
| Mlh3 |
C |
A |
12: 85,297,075 (GRCm39) |
|
probably null |
Het |
| Mrpl45 |
T |
C |
11: 97,206,751 (GRCm39) |
W18R |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,538,356 (GRCm39) |
D138G |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,536,212 (GRCm39) |
C246Y |
probably damaging |
Het |
| Mylk4 |
A |
T |
13: 32,904,582 (GRCm39) |
V415E |
probably damaging |
Het |
| Olfm3 |
A |
T |
3: 114,890,679 (GRCm39) |
Q124L |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,752 (GRCm39) |
M118K |
probably damaging |
Het |
| Pam |
C |
T |
1: 97,822,111 (GRCm39) |
G298R |
probably damaging |
Het |
| Pappa2 |
A |
C |
1: 158,682,501 (GRCm39) |
I849R |
probably damaging |
Het |
| Pde3a |
T |
A |
6: 141,438,025 (GRCm39) |
D1031E |
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,947,615 (GRCm39) |
S521T |
probably benign |
Het |
| Pkn1 |
A |
G |
8: 84,397,652 (GRCm39) |
F824L |
possibly damaging |
Het |
| Pspn |
C |
T |
17: 57,306,566 (GRCm39) |
R121Q |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,578,380 (GRCm39) |
D1195G |
possibly damaging |
Het |
| Sin3b |
A |
G |
8: 73,471,196 (GRCm39) |
D381G |
probably damaging |
Het |
| Slc37a3 |
T |
C |
6: 39,336,919 (GRCm39) |
|
probably null |
Het |
| Smtn |
T |
A |
11: 3,482,601 (GRCm39) |
K124* |
probably null |
Het |
| Tbce |
A |
G |
13: 14,194,449 (GRCm39) |
V70A |
possibly damaging |
Het |
| Tti1 |
A |
G |
2: 157,842,597 (GRCm39) |
Y811H |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,235,603 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,042,635 (GRCm39) |
D174G |
possibly 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 |
|
|
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 |
|
|
R9425:Upf1
|
UTSW |
8 |
70,792,003 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2016-08-02 |
Incidental Mutation