Incidental Mutation 'IGL00519:Uri1'
ID 5272
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) question?
Stock # IGL00519
Quality Score
Status
Chromosome 7
Chromosomal Location 37659417-37722976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37660978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 522 (S522P)
Ref Sequence ENSEMBL: ENSMUSP00000145738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085513] [ENSMUST00000206581]
AlphaFold Q3TLD5
Predicted Effect possibly damaging
Transcript: ENSMUST00000085513
AA Change: S520P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: S520P

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000205918
AA Change: V38A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205927
Predicted Effect unknown
Transcript: ENSMUST00000206327
AA Change: S514P
Predicted Effect probably damaging
Transcript: ENSMUST00000206581
AA Change: S522P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,562 (GRCm39) N309K probably damaging Het
Asap1 G A 15: 63,982,791 (GRCm39) P846S probably damaging Het
Atg10 A G 13: 91,302,330 (GRCm39) probably benign Het
Cdk18 C A 1: 132,043,226 (GRCm39) R433L probably benign Het
Celsr1 A G 15: 85,915,037 (GRCm39) Y979H probably damaging Het
Cracr2b T C 7: 141,045,670 (GRCm39) probably benign Het
Csmd2 T C 4: 128,377,266 (GRCm39) F2049L probably benign Het
Cubn T C 2: 13,287,730 (GRCm39) N3450D probably benign Het
Dmrt1 T C 19: 25,580,638 (GRCm39) L350P probably damaging Het
Dnah5 A T 15: 28,444,364 (GRCm39) D4054V probably benign Het
Dpp8 A T 9: 64,985,290 (GRCm39) T783S probably damaging Het
Enpp3 T C 10: 24,663,670 (GRCm39) T564A probably benign Het
Exoc6b T C 6: 84,966,435 (GRCm39) K180E probably benign Het
Faf1 T A 4: 109,697,578 (GRCm39) F301L probably benign Het
Fbxo7 A T 10: 85,864,928 (GRCm39) E77V probably damaging Het
Gabpa T G 16: 84,657,489 (GRCm39) *455G probably null Het
Hexim2 A T 11: 103,024,905 (GRCm39) M1L probably benign Het
Lrrc24 T A 15: 76,602,263 (GRCm39) N164I probably damaging Het
Lrrc8b G A 5: 105,629,591 (GRCm39) A646T possibly damaging Het
Mansc1 T A 6: 134,587,769 (GRCm39) Q136L possibly damaging Het
Mlxip T A 5: 123,585,268 (GRCm39) V592E probably benign Het
Ncor2 T C 5: 125,161,988 (GRCm39) T429A unknown Het
Tbcd A G 11: 121,466,147 (GRCm39) N591S probably damaging Het
Tenm4 T C 7: 96,454,345 (GRCm39) probably benign Het
Ush2a C T 1: 188,176,865 (GRCm39) S1343L probably benign Het
Other mutations in Uri1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20