Incidental Mutation 'IGL00519:Uri1'
ID |
5272 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Uri1
|
Ensembl Gene |
ENSMUSG00000030421 |
Gene Name |
URI1, prefoldin-like chaperone |
Synonyms |
NNX3, Rmp, C80913 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00519
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
37659417-37722976 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37660978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 522
(S522P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085513]
[ENSMUST00000206581]
|
AlphaFold |
Q3TLD5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085513
AA Change: S520P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000082646 Gene: ENSMUSG00000030421 AA Change: S520P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
Pfam:Prefoldin
|
35 |
150 |
3.3e-18 |
PFAM |
Pfam:Prefoldin_3
|
43 |
141 |
5.2e-12 |
PFAM |
low complexity region
|
207 |
226 |
N/A |
INTRINSIC |
SCOP:d1qbkb_
|
299 |
321 |
7e-3 |
SMART |
low complexity region
|
358 |
368 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205809
|
Predicted Effect |
unknown
Transcript: ENSMUST00000205918
AA Change: V38A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205927
|
Predicted Effect |
unknown
Transcript: ENSMUST00000206327
AA Change: S514P
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206581
AA Change: S522P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
T |
8: 44,022,562 (GRCm39) |
N309K |
probably damaging |
Het |
Asap1 |
G |
A |
15: 63,982,791 (GRCm39) |
P846S |
probably damaging |
Het |
Atg10 |
A |
G |
13: 91,302,330 (GRCm39) |
|
probably benign |
Het |
Cdk18 |
C |
A |
1: 132,043,226 (GRCm39) |
R433L |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,915,037 (GRCm39) |
Y979H |
probably damaging |
Het |
Cracr2b |
T |
C |
7: 141,045,670 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,377,266 (GRCm39) |
F2049L |
probably benign |
Het |
Cubn |
T |
C |
2: 13,287,730 (GRCm39) |
N3450D |
probably benign |
Het |
Dmrt1 |
T |
C |
19: 25,580,638 (GRCm39) |
L350P |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,444,364 (GRCm39) |
D4054V |
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,985,290 (GRCm39) |
T783S |
probably damaging |
Het |
Enpp3 |
T |
C |
10: 24,663,670 (GRCm39) |
T564A |
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,966,435 (GRCm39) |
K180E |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,697,578 (GRCm39) |
F301L |
probably benign |
Het |
Fbxo7 |
A |
T |
10: 85,864,928 (GRCm39) |
E77V |
probably damaging |
Het |
Gabpa |
T |
G |
16: 84,657,489 (GRCm39) |
*455G |
probably null |
Het |
Hexim2 |
A |
T |
11: 103,024,905 (GRCm39) |
M1L |
probably benign |
Het |
Lrrc24 |
T |
A |
15: 76,602,263 (GRCm39) |
N164I |
probably damaging |
Het |
Lrrc8b |
G |
A |
5: 105,629,591 (GRCm39) |
A646T |
possibly damaging |
Het |
Mansc1 |
T |
A |
6: 134,587,769 (GRCm39) |
Q136L |
possibly damaging |
Het |
Mlxip |
T |
A |
5: 123,585,268 (GRCm39) |
V592E |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,161,988 (GRCm39) |
T429A |
unknown |
Het |
Tbcd |
A |
G |
11: 121,466,147 (GRCm39) |
N591S |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,454,345 (GRCm39) |
|
probably benign |
Het |
Ush2a |
C |
T |
1: 188,176,865 (GRCm39) |
S1343L |
probably benign |
Het |
|
Other mutations in Uri1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00978:Uri1
|
APN |
7 |
37,696,156 (GRCm39) |
splice site |
probably benign |
|
IGL01921:Uri1
|
APN |
7 |
37,681,072 (GRCm39) |
nonsense |
probably null |
|
IGL02538:Uri1
|
APN |
7 |
37,664,916 (GRCm39) |
missense |
probably benign |
|
IGL02750:Uri1
|
APN |
7 |
37,666,906 (GRCm39) |
nonsense |
probably null |
|
R0677:Uri1
|
UTSW |
7 |
37,664,925 (GRCm39) |
missense |
probably benign |
0.01 |
R0863:Uri1
|
UTSW |
7 |
37,669,100 (GRCm39) |
missense |
probably damaging |
0.98 |
R0945:Uri1
|
UTSW |
7 |
37,669,103 (GRCm39) |
missense |
probably damaging |
0.98 |
R1582:Uri1
|
UTSW |
7 |
37,664,811 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1700:Uri1
|
UTSW |
7 |
37,662,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Uri1
|
UTSW |
7 |
37,681,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1839:Uri1
|
UTSW |
7 |
37,666,814 (GRCm39) |
missense |
probably benign |
0.19 |
R1915:Uri1
|
UTSW |
7 |
37,661,103 (GRCm39) |
missense |
probably damaging |
0.98 |
R3967:Uri1
|
UTSW |
7 |
37,664,927 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5609:Uri1
|
UTSW |
7 |
37,662,954 (GRCm39) |
nonsense |
probably null |
|
R6022:Uri1
|
UTSW |
7 |
37,660,902 (GRCm39) |
utr 3 prime |
probably benign |
|
R6395:Uri1
|
UTSW |
7 |
37,661,974 (GRCm39) |
missense |
probably benign |
0.00 |
R6873:Uri1
|
UTSW |
7 |
37,664,764 (GRCm39) |
missense |
probably benign |
0.00 |
R7602:Uri1
|
UTSW |
7 |
37,681,053 (GRCm39) |
missense |
probably benign |
0.14 |
R8108:Uri1
|
UTSW |
7 |
37,681,098 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8765:Uri1
|
UTSW |
7 |
37,696,145 (GRCm39) |
missense |
probably benign |
0.18 |
R8788:Uri1
|
UTSW |
7 |
37,661,003 (GRCm39) |
missense |
|
|
R9095:Uri1
|
UTSW |
7 |
37,662,873 (GRCm39) |
missense |
probably damaging |
0.99 |
R9408:Uri1
|
UTSW |
7 |
37,669,031 (GRCm39) |
missense |
probably benign |
0.28 |
R9696:Uri1
|
UTSW |
7 |
37,664,738 (GRCm39) |
missense |
probably benign |
0.00 |
R9746:Uri1
|
UTSW |
7 |
37,696,110 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Uri1
|
UTSW |
7 |
37,681,035 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2012-04-20 |