Incidental Mutation 'IGL02072:Upf3a'
| ID |
185869 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Upf3a
|
| Ensembl Gene |
ENSMUSG00000038398 |
| Gene Name |
UPF3 regulator of nonsense transcripts homolog A (yeast) |
| Synonyms |
RENT3A, 2600001C03Rik, 4930546M19Rik, UPF3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13835615-13849193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 13848368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 388
(Q388P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043767]
|
| AlphaFold |
Q3ULJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043767
AA Change: Q388P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037354
Gene: ENSMUSG00000038398
AA Change: Q388P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
Pfam:Smg4_UPF3
|
63 |
224 |
1.4e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211724
|
| 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. The encoded protein is one of two functional homologs to yeast Upf3p. 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 binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The gene product protects against mRNA transcript degradation. Homozygous constitutive KO is embryonic lethal. Homozygous conditional KO in testes leads to reduced male fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
G |
9: 53,371,096 (GRCm39) |
S2251P |
probably benign |
Het |
| C1qtnf6 |
T |
A |
15: 78,411,551 (GRCm39) |
K42* |
probably null |
Het |
| Ddx20 |
A |
T |
3: 105,587,943 (GRCm39) |
V379E |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,644,986 (GRCm39) |
W1017R |
probably damaging |
Het |
| Eif2s1 |
T |
A |
12: 78,926,788 (GRCm39) |
N179K |
probably benign |
Het |
| Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
| Fancg |
A |
C |
4: 43,007,062 (GRCm39) |
H238Q |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,721,031 (GRCm39) |
I110V |
probably damaging |
Het |
| G6pd2 |
A |
T |
5: 61,966,753 (GRCm39) |
D176V |
probably damaging |
Het |
| Gm5114 |
A |
G |
7: 39,060,826 (GRCm39) |
S8P |
probably benign |
Het |
| Hoxa1 |
T |
A |
6: 52,133,878 (GRCm39) |
M283L |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,680,720 (GRCm39) |
L252H |
probably damaging |
Het |
| Itgb2l |
A |
T |
16: 96,231,808 (GRCm39) |
D319E |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,120,528 (GRCm39) |
T737A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,610,430 (GRCm39) |
D225E |
possibly damaging |
Het |
| Lamb2 |
T |
A |
9: 108,359,107 (GRCm39) |
Y274* |
probably null |
Het |
| Lratd2 |
A |
G |
15: 60,695,302 (GRCm39) |
L148P |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,458,351 (GRCm39) |
L353P |
probably damaging |
Het |
| Mid2 |
T |
A |
X: 139,637,201 (GRCm39) |
H258Q |
probably damaging |
Het |
| Msh3 |
A |
C |
13: 92,436,803 (GRCm39) |
N502K |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,770 (GRCm39) |
H769R |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,366,048 (GRCm39) |
Q1018* |
probably null |
Het |
| Oas1e |
A |
G |
5: 120,929,846 (GRCm39) |
|
probably null |
Het |
| Or4f14d |
A |
T |
2: 111,960,426 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,245 (GRCm39) |
I145T |
probably benign |
Het |
| Plekha4 |
T |
A |
7: 45,187,722 (GRCm39) |
F265I |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,313,978 (GRCm39) |
I762T |
probably benign |
Het |
| Spag1 |
C |
A |
15: 36,190,658 (GRCm39) |
P158Q |
probably damaging |
Het |
| Spout1 |
G |
A |
2: 30,067,938 (GRCm39) |
Q26* |
probably null |
Het |
| Sulf1 |
T |
C |
1: 12,918,432 (GRCm39) |
Y50H |
probably damaging |
Het |
| Sytl5 |
C |
T |
X: 9,829,825 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,637 (GRCm39) |
E663G |
possibly damaging |
Het |
| Tmc3 |
A |
G |
7: 83,265,148 (GRCm39) |
I681V |
probably benign |
Het |
| Tnfsf4 |
G |
T |
1: 161,244,860 (GRCm39) |
C183F |
probably damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,506 (GRCm39) |
L528Q |
possibly damaging |
Het |
| Vrk1 |
T |
C |
12: 106,009,144 (GRCm39) |
V70A |
probably benign |
Het |
|
| Other mutations in Upf3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01398:Upf3a
|
APN |
8 |
13,836,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01678:Upf3a
|
APN |
8 |
13,841,930 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0309:Upf3a
|
UTSW |
8 |
13,845,500 (GRCm39) |
splice site |
probably null |
|
|
R0564:Upf3a
|
UTSW |
8 |
13,845,656 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0571:Upf3a
|
UTSW |
8 |
13,842,184 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0826:Upf3a
|
UTSW |
8 |
13,848,338 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1387:Upf3a
|
UTSW |
8 |
13,842,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Upf3a
|
UTSW |
8 |
13,842,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Upf3a
|
UTSW |
8 |
13,835,850 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2520:Upf3a
|
UTSW |
8 |
13,846,443 (GRCm39) |
splice site |
probably null |
|
|
R3845:Upf3a
|
UTSW |
8 |
13,848,238 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4239:Upf3a
|
UTSW |
8 |
13,846,591 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4424:Upf3a
|
UTSW |
8 |
13,846,573 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5522:Upf3a
|
UTSW |
8 |
13,845,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6321:Upf3a
|
UTSW |
8 |
13,837,466 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6922:Upf3a
|
UTSW |
8 |
13,841,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Upf3a
|
UTSW |
8 |
13,835,889 (GRCm39) |
splice site |
probably null |
|
|
R7585:Upf3a
|
UTSW |
8 |
13,837,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7695:Upf3a
|
UTSW |
8 |
13,848,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7991:Upf3a
|
UTSW |
8 |
13,842,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Upf3a
|
UTSW |
8 |
13,845,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9638:Upf3a
|
UTSW |
8 |
13,848,343 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation