Incidental Mutation 'R5609:Uri1'
ID |
437968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uri1
|
Ensembl Gene |
ENSMUSG00000030421 |
Gene Name |
URI1, prefoldin-like chaperone |
Synonyms |
NNX3, Rmp, C80913 |
MMRRC Submission |
043158-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5609 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
37659417-37722976 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 37662954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 347
(R347*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085513]
[ENSMUST00000206581]
|
AlphaFold |
Q3TLD5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000085513
AA Change: R345*
|
SMART Domains |
Protein: ENSMUSP00000082646 Gene: ENSMUSG00000030421 AA Change: R345*
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 |
probably benign
Transcript: ENSMUST00000205918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205927
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206327
AA Change: R339*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206581
AA Change: R347*
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,353,874 (GRCm39) |
I3732T |
probably benign |
Het |
Ago1 |
C |
A |
4: 126,354,830 (GRCm39) |
K127N |
possibly damaging |
Het |
Akap8l |
T |
C |
17: 32,557,374 (GRCm39) |
N79S |
probably damaging |
Het |
Ano5 |
T |
C |
7: 51,243,385 (GRCm39) |
L836P |
probably damaging |
Het |
AY358078 |
A |
G |
14: 52,042,065 (GRCm39) |
T147A |
unknown |
Het |
Cabp4 |
T |
C |
19: 4,189,251 (GRCm39) |
D102G |
probably benign |
Het |
Cdc34 |
C |
T |
10: 79,520,655 (GRCm39) |
R61C |
probably damaging |
Het |
Chac1 |
A |
G |
2: 119,181,887 (GRCm39) |
K2E |
unknown |
Het |
Cltc |
C |
T |
11: 86,621,093 (GRCm39) |
V305I |
probably damaging |
Het |
Cog7 |
T |
C |
7: 121,524,683 (GRCm39) |
T704A |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,421,174 (GRCm39) |
V184A |
probably damaging |
Het |
Daglb |
A |
T |
5: 143,464,274 (GRCm39) |
T262S |
probably benign |
Het |
Dglucy |
A |
G |
12: 100,753,905 (GRCm39) |
I12V |
probably null |
Het |
Dnah7a |
A |
G |
1: 53,621,753 (GRCm39) |
V1124A |
probably benign |
Het |
Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
Eif3k |
C |
A |
7: 28,681,133 (GRCm39) |
A9S |
probably benign |
Het |
Elapor1 |
T |
A |
3: 108,378,731 (GRCm39) |
I408F |
probably damaging |
Het |
Gli3 |
A |
T |
13: 15,723,038 (GRCm39) |
M60L |
possibly damaging |
Het |
Hk1 |
C |
T |
10: 62,178,330 (GRCm39) |
E4K |
probably benign |
Het |
Kmt2b |
C |
A |
7: 30,276,570 (GRCm39) |
V1701L |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,231,807 (GRCm39) |
H1107R |
probably damaging |
Het |
Lypd10 |
A |
T |
7: 24,413,711 (GRCm39) |
R242S |
possibly damaging |
Het |
Ncor1 |
A |
G |
11: 62,249,679 (GRCm39) |
|
probably null |
Het |
Or5h23 |
T |
A |
16: 58,906,439 (GRCm39) |
M136L |
possibly damaging |
Het |
Or6c70 |
T |
G |
10: 129,710,607 (GRCm39) |
R6S |
probably benign |
Het |
Plekhg4 |
G |
A |
8: 106,106,134 (GRCm39) |
|
probably null |
Het |
Pmfbp1 |
G |
T |
8: 110,251,739 (GRCm39) |
E327D |
probably damaging |
Het |
Slc22a17 |
G |
A |
14: 55,146,427 (GRCm39) |
P63L |
probably damaging |
Het |
Slc37a1 |
G |
A |
17: 31,556,982 (GRCm39) |
V383M |
possibly damaging |
Het |
Slc9a9 |
T |
A |
9: 94,691,990 (GRCm39) |
Y182N |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,842,162 (GRCm39) |
D29G |
probably damaging |
Het |
St3gal5 |
T |
C |
6: 72,130,446 (GRCm39) |
V319A |
possibly damaging |
Het |
Tbc1d10c |
C |
T |
19: 4,239,881 (GRCm39) |
M76I |
possibly damaging |
Het |
Thrb |
C |
A |
14: 18,033,526 (GRCm38) |
H416N |
probably benign |
Het |
Timp2 |
T |
A |
11: 118,210,987 (GRCm39) |
D60V |
probably damaging |
Het |
Ubxn6 |
C |
T |
17: 56,376,745 (GRCm39) |
E216K |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,094,527 (GRCm39) |
M1977T |
probably benign |
Het |
Vmn1r73 |
G |
A |
7: 11,490,591 (GRCm39) |
W136* |
probably null |
Het |
Vmn2r124 |
T |
C |
17: 18,294,102 (GRCm39) |
Y730H |
probably benign |
Het |
Wnk4 |
C |
T |
11: 101,166,462 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,468,679 (GRCm39) |
N2971D |
probably damaging |
Het |
|
Other mutations in Uri1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00519:Uri1
|
APN |
7 |
37,660,978 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGTCTGCAGGCACTAAGAC -3'
(R):5'- ACATGGACTAAGTCGCAAATACATG -3'
Sequencing Primer
(F):5'- TGCAGGCACTAAGACCATCACG -3'
(R):5'- CAGTGCCAGAAAGTTCGA -3'
|
Posted On |
2016-10-26 |