Incidental Mutation 'R1582:Uri1'
ID |
171470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uri1
|
Ensembl Gene |
ENSMUSG00000030421 |
Gene Name |
URI1, prefoldin-like chaperone |
Synonyms |
NNX3, Rmp, C80913 |
MMRRC Submission |
039619-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1582 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
37659417-37722976 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37664811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 292
(S292P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082646
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085513]
[ENSMUST00000206581]
|
AlphaFold |
Q3TLD5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085513
AA Change: S292P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000082646 Gene: ENSMUSG00000030421 AA Change: S292P
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 benign
Transcript: ENSMUST00000206169
|
Predicted Effect |
unknown
Transcript: ENSMUST00000206327
AA Change: S286P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206581
AA Change: S294P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.6%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
C |
G |
2: 31,690,371 (GRCm39) |
A630G |
probably damaging |
Het |
Actr3 |
A |
G |
1: 125,333,662 (GRCm39) |
Y202H |
probably benign |
Het |
Adamts19 |
A |
G |
18: 59,103,013 (GRCm39) |
N685D |
probably damaging |
Het |
Atl3 |
A |
G |
19: 7,494,264 (GRCm39) |
T138A |
probably damaging |
Het |
Bpifa2 |
T |
C |
2: 153,855,638 (GRCm39) |
S188P |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,982,291 (GRCm39) |
T3821A |
unknown |
Het |
Dcun1d2 |
A |
G |
8: 13,330,926 (GRCm39) |
L68P |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,842,566 (GRCm39) |
L630I |
probably damaging |
Het |
Ddx25 |
T |
C |
9: 35,457,272 (GRCm39) |
T348A |
probably damaging |
Het |
Dtnb |
C |
T |
12: 3,823,554 (GRCm39) |
T580M |
possibly damaging |
Het |
Dysf |
A |
G |
6: 84,074,749 (GRCm39) |
S561G |
probably damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,771,995 (GRCm39) |
I101T |
possibly damaging |
Het |
Erich3 |
T |
C |
3: 154,469,960 (GRCm39) |
|
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,068,398 (GRCm39) |
T611A |
probably damaging |
Het |
Gpbp1 |
T |
C |
13: 111,573,066 (GRCm39) |
|
probably null |
Het |
H2-Oa |
A |
T |
17: 34,313,695 (GRCm39) |
T218S |
probably damaging |
Het |
Kctd19 |
G |
A |
8: 106,122,092 (GRCm39) |
L152F |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,552,591 (GRCm39) |
M1189K |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,947,398 (GRCm39) |
V862A |
probably benign |
Het |
Lct |
T |
C |
1: 128,228,299 (GRCm39) |
T1065A |
probably damaging |
Het |
Mark3 |
G |
A |
12: 111,621,744 (GRCm39) |
A697T |
probably benign |
Het |
Mosmo |
A |
G |
7: 120,329,728 (GRCm39) |
I116M |
possibly damaging |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Muc15 |
A |
T |
2: 110,567,817 (GRCm39) |
M321L |
probably benign |
Het |
Naa25 |
T |
A |
5: 121,572,892 (GRCm39) |
N670K |
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,090 (GRCm39) |
C172S |
probably damaging |
Het |
Or5e1 |
G |
T |
7: 108,354,317 (GRCm39) |
V85L |
probably benign |
Het |
Or6z3 |
A |
G |
7: 6,463,813 (GRCm39) |
M102V |
probably benign |
Het |
Ppara |
T |
C |
15: 85,682,429 (GRCm39) |
I375T |
possibly damaging |
Het |
Prss27 |
A |
G |
17: 24,263,877 (GRCm39) |
I188V |
probably benign |
Het |
Rbms1 |
A |
T |
2: 60,589,179 (GRCm39) |
M287K |
possibly damaging |
Het |
Relt |
C |
T |
7: 100,500,560 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sec24a |
A |
G |
11: 51,599,794 (GRCm39) |
V837A |
probably benign |
Het |
Smarca2 |
G |
A |
19: 26,729,305 (GRCm39) |
D19N |
probably damaging |
Het |
Sorbs2 |
G |
A |
8: 46,258,814 (GRCm39) |
G620D |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,181,038 (GRCm39) |
Q46K |
probably benign |
Het |
Spata6 |
C |
G |
4: 111,637,992 (GRCm39) |
S274* |
probably null |
Het |
Spata6 |
C |
T |
4: 111,637,994 (GRCm39) |
P275S |
probably benign |
Het |
Tas2r108 |
T |
A |
6: 40,470,566 (GRCm39) |
V14D |
probably benign |
Het |
Thbs2 |
G |
T |
17: 14,891,550 (GRCm39) |
P996T |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,839,090 (GRCm39) |
Q620R |
probably damaging |
Het |
Ubap2l |
A |
G |
3: 89,941,978 (GRCm39) |
S203P |
probably damaging |
Het |
Unc45b |
G |
A |
11: 82,816,771 (GRCm39) |
G404S |
probably benign |
Het |
Usp21 |
A |
T |
1: 171,110,655 (GRCm39) |
C444S |
probably damaging |
Het |
Vmn1r117 |
A |
T |
7: 20,617,484 (GRCm39) |
V188D |
possibly damaging |
Het |
Vmn1r7 |
T |
C |
6: 57,002,143 (GRCm39) |
D39G |
probably damaging |
Het |
Wdr25 |
T |
C |
12: 108,863,980 (GRCm39) |
F42L |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCCCAAAATAACCTTGTCTTGAAGCC -3'
(R):5'- CTACAGTCTGCTGAGATGTGTAAGAGC -3'
Sequencing Primer
(F):5'- CCTTCTGAGAATGGCAGACTG -3'
(R):5'- CATCATCTAGTAAACCTGATACTGTG -3'
|
Posted On |
2014-04-13 |