Incidental Mutation 'IGL02538:Uri1'
| ID |
297608 |
| 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 # |
IGL02538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
37659417-37722976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37664916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 259
(S259P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085513]
[ENSMUST00000206581]
|
| AlphaFold |
Q3TLD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085513
AA Change: S257P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: S257P
| 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: S251P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206581
AA Change: S259P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,136,949 (GRCm39) |
I171L |
possibly damaging |
Het |
| Amdhd1 |
C |
T |
10: 93,363,108 (GRCm39) |
V327I |
probably damaging |
Het |
| Ankrd1 |
T |
C |
19: 36,092,456 (GRCm39) |
H257R |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,233,523 (GRCm39) |
R595H |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,307,658 (GRCm39) |
T1531A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,982,435 (GRCm39) |
S1001P |
unknown |
Het |
| Btn1a1 |
T |
C |
13: 23,643,385 (GRCm39) |
T355A |
possibly damaging |
Het |
| Cd22 |
G |
T |
7: 30,576,985 (GRCm39) |
N107K |
probably benign |
Het |
| Ceacam10 |
A |
G |
7: 24,477,908 (GRCm39) |
H141R |
probably damaging |
Het |
| Chil3 |
T |
C |
3: 106,071,445 (GRCm39) |
D73G |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,125,048 (GRCm39) |
Q1536* |
probably null |
Het |
| Dmgdh |
T |
A |
13: 93,845,261 (GRCm39) |
I418K |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,938,722 (GRCm39) |
|
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,678,523 (GRCm39) |
I110V |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,096 (GRCm39) |
Y221C |
probably damaging |
Het |
| Fezf1 |
T |
A |
6: 23,246,557 (GRCm39) |
K342N |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,869,047 (GRCm39) |
|
probably benign |
Het |
| Gm8126 |
A |
T |
14: 43,117,047 (GRCm39) |
R63W |
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,049,345 (GRCm39) |
K203E |
probably benign |
Het |
| Iigp1c |
A |
T |
18: 60,378,944 (GRCm39) |
K160* |
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,623,088 (GRCm39) |
M393V |
probably null |
Het |
| Kbtbd11 |
A |
G |
8: 15,078,841 (GRCm39) |
D480G |
probably damaging |
Het |
| Klhl1 |
T |
C |
14: 96,477,649 (GRCm39) |
N473S |
probably benign |
Het |
| Krt1c |
A |
G |
15: 101,719,589 (GRCm39) |
S694P |
unknown |
Het |
| Lhfpl6 |
C |
T |
3: 52,950,732 (GRCm39) |
A2V |
probably benign |
Het |
| Lipk |
T |
A |
19: 34,024,279 (GRCm39) |
L354Q |
probably damaging |
Het |
| Luzp2 |
T |
A |
7: 54,861,546 (GRCm39) |
L225* |
probably null |
Het |
| Mknk1 |
C |
T |
4: 115,717,288 (GRCm39) |
Q58* |
probably null |
Het |
| Mmut |
A |
T |
17: 41,249,510 (GRCm39) |
I162F |
probably damaging |
Het |
| Nol11 |
T |
A |
11: 107,064,199 (GRCm39) |
M518L |
probably benign |
Het |
| Nubpl |
T |
C |
12: 52,357,477 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
T |
A |
2: 80,474,563 (GRCm39) |
S93R |
possibly damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,816 (GRCm39) |
|
probably benign |
Het |
| Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
| Pex3 |
T |
C |
10: 13,411,344 (GRCm39) |
E178G |
possibly damaging |
Het |
| Rad23b |
C |
A |
4: 55,370,457 (GRCm39) |
P161Q |
possibly damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,178,716 (GRCm39) |
S1128P |
probably damaging |
Het |
| Terb2 |
T |
C |
2: 122,035,289 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,603,942 (GRCm39) |
Y96C |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,022,339 (GRCm39) |
D830G |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,712,187 (GRCm39) |
L616H |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,125,269 (GRCm39) |
C73S |
probably damaging |
Het |
| Wdr7 |
C |
A |
18: 63,929,306 (GRCm39) |
D1047E |
probably benign |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation