Incidental Mutation 'R6873:Uri1'
| ID |
536255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uri1
|
| Ensembl Gene |
ENSMUSG00000030421 |
| Gene Name |
URI1, prefoldin-like chaperone |
| Synonyms |
NNX3, Rmp, C80913 |
| MMRRC Submission |
044970-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6873 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
37659417-37722976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37664764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 309
(D309E)
|
| 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: D307E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: D307E
| 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: ENSMUST00000205918
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206327
AA Change: D301E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206581
AA Change: D309E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss1 |
A |
G |
12: 112,599,138 (GRCm39) |
D123G |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,423,856 (GRCm39) |
D294G |
possibly damaging |
Het |
| Apob |
G |
T |
12: 8,065,995 (GRCm39) |
M4288I |
probably benign |
Het |
| Arnt |
T |
G |
3: 95,381,886 (GRCm39) |
F160V |
probably damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,863,540 (GRCm39) |
R42* |
probably null |
Het |
| Bhlha15 |
A |
G |
5: 144,128,203 (GRCm39) |
D105G |
probably benign |
Het |
| C6 |
A |
G |
15: 4,820,461 (GRCm39) |
T491A |
probably benign |
Het |
| Calhm5 |
G |
C |
10: 33,968,448 (GRCm39) |
R202G |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,723,153 (GRCm39) |
E647G |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,283,993 (GRCm39) |
D1579G |
unknown |
Het |
| Dctn2 |
T |
G |
10: 127,112,105 (GRCm39) |
|
probably null |
Het |
| Eqtn |
A |
G |
4: 94,815,258 (GRCm39) |
V80A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,802,803 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,041,787 (GRCm39) |
D814G |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,672,045 (GRCm39) |
D445G |
probably damaging |
Het |
| Gm6309 |
T |
C |
5: 146,104,998 (GRCm39) |
D305G |
probably damaging |
Het |
| Grap2 |
G |
A |
15: 80,527,874 (GRCm39) |
V107I |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,235,865 (GRCm39) |
A1439T |
probably benign |
Het |
| Krt5 |
G |
A |
15: 101,621,312 (GRCm39) |
|
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,699,642 (GRCm39) |
I152M |
possibly damaging |
Het |
| Mast3 |
A |
T |
8: 71,239,236 (GRCm39) |
C447* |
probably null |
Het |
| Mef2b |
A |
G |
8: 70,618,957 (GRCm39) |
I180V |
probably benign |
Het |
| Mon1b |
T |
C |
8: 114,368,697 (GRCm39) |
Y533H |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,788,843 (GRCm39) |
H454L |
possibly damaging |
Het |
| Nhlrc4 |
G |
A |
17: 26,162,496 (GRCm39) |
Q84* |
probably null |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,503,433 (GRCm39) |
I513T |
probably benign |
Het |
| Or1j12 |
A |
T |
2: 36,343,508 (GRCm39) |
I304F |
probably benign |
Het |
| Or2n1 |
A |
T |
17: 38,486,259 (GRCm39) |
M95L |
probably benign |
Het |
| Or4c108 |
T |
C |
2: 88,803,768 (GRCm39) |
T156A |
probably benign |
Het |
| Panx1 |
A |
T |
9: 14,921,513 (GRCm39) |
Y121N |
probably damaging |
Het |
| Pfkfb4 |
A |
C |
9: 108,839,403 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
A |
G |
18: 78,902,774 (GRCm39) |
S298P |
probably benign |
Het |
| Sh3bgr |
A |
C |
16: 96,007,691 (GRCm39) |
K19Q |
probably damaging |
Het |
| Slc35c2 |
T |
C |
2: 165,124,729 (GRCm39) |
D82G |
possibly damaging |
Het |
| Spata13 |
T |
A |
14: 60,929,406 (GRCm39) |
D321E |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,697,230 (GRCm39) |
|
probably null |
Het |
| Sulf2 |
T |
A |
2: 165,931,195 (GRCm39) |
I271F |
probably damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,359,311 (GRCm39) |
I96L |
probably benign |
Het |
| Sv2b |
A |
G |
7: 74,855,954 (GRCm39) |
F112S |
probably damaging |
Het |
| Sycp1 |
G |
A |
3: 102,748,296 (GRCm39) |
T832I |
probably benign |
Het |
| Tm9sf2 |
A |
T |
14: 122,382,525 (GRCm39) |
E179V |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,508,455 (GRCm39) |
I66T |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,335,549 (GRCm39) |
W220R |
probably damaging |
Het |
| Ttc39b |
G |
C |
4: 83,164,513 (GRCm39) |
N266K |
probably damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,527,273 (GRCm39) |
R1057W |
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 |
|
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 |
|
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'- TCCTGTTTGATAGCATTGACAATCC -3'
(R):5'- GACAGAGTGTCTTCTGAGGAGG -3'
Sequencing Primer
(F):5'- GTTTGATAGCATTGACAATCCTAGTC -3'
(R):5'- CAGAGTGTCTTCTGAGGAGGAAAAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation