Incidental Mutation 'IGL01921:Uri1'
| ID |
180088 |
| 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 # |
IGL01921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
37659417-37722976 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 37681072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 111
(K111*)
|
| 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: K109*
|
| SMART Domains |
Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: K109*
| 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 |
probably benign
Transcript: ENSMUST00000206169
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206327
AA Change: K103*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206581
AA Change: K111*
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
A |
8: 44,078,548 (GRCm39) |
V559L |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,660,297 (GRCm39) |
T310A |
possibly damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,640,019 (GRCm39) |
T92A |
probably damaging |
Het |
| Ciao1 |
C |
T |
2: 127,084,755 (GRCm39) |
V328I |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,557,299 (GRCm39) |
Q1943L |
possibly damaging |
Het |
| Diaph1 |
T |
C |
18: 37,989,261 (GRCm39) |
D898G |
possibly damaging |
Het |
| Dio3 |
A |
T |
12: 110,245,789 (GRCm39) |
T42S |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,955,115 (GRCm39) |
I2048N |
probably benign |
Het |
| Egr2 |
T |
A |
10: 67,376,208 (GRCm39) |
|
probably null |
Het |
| Epc2 |
T |
A |
2: 49,422,209 (GRCm39) |
Y368N |
probably damaging |
Het |
| Furin |
A |
G |
7: 80,045,702 (GRCm39) |
|
probably benign |
Het |
| Gga1 |
T |
C |
15: 78,777,995 (GRCm39) |
M620T |
possibly damaging |
Het |
| Gm21976 |
T |
A |
13: 98,441,829 (GRCm39) |
Y45* |
probably null |
Het |
| Gpn1 |
T |
C |
5: 31,656,612 (GRCm39) |
V105A |
probably damaging |
Het |
| Hoxb8 |
A |
T |
11: 96,175,181 (GRCm39) |
N206I |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,808,569 (GRCm39) |
L67Q |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,989 (GRCm39) |
|
probably benign |
Het |
| Mat1a |
T |
C |
14: 40,836,292 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
T |
C |
6: 39,382,847 (GRCm39) |
D99G |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,474 (GRCm39) |
Y645C |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,671 (GRCm39) |
V702A |
probably benign |
Het |
| Ppp4r4 |
G |
T |
12: 103,542,569 (GRCm39) |
M1I |
probably null |
Het |
| Prss21 |
T |
A |
17: 24,091,414 (GRCm39) |
M217K |
possibly damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,220 (GRCm39) |
S406G |
possibly damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,385 (GRCm39) |
E7G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,565 (GRCm39) |
E694G |
possibly damaging |
Het |
| Rlf |
T |
C |
4: 121,003,943 (GRCm39) |
D1679G |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,569,436 (GRCm39) |
C4956Y |
possibly damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,632 (GRCm39) |
E848* |
probably null |
Het |
| Usf1 |
A |
G |
1: 171,244,424 (GRCm39) |
E108G |
possibly damaging |
Het |
| Vmn1r71 |
C |
A |
7: 10,482,199 (GRCm39) |
R163L |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r86 |
T |
C |
10: 130,291,610 (GRCm39) |
T52A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,213,958 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
T |
C |
7: 6,328,569 (GRCm39) |
T7A |
possibly damaging |
Het |
| Zim1 |
T |
G |
7: 6,685,184 (GRCm39) |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation