Incidental Mutation 'IGL00519:Uri1'
ID5272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uri1
Ensembl Gene ENSMUSG00000030421
Gene NameURI1, prefoldin-like chaperone
SynonymsNNX3, Rmp, C80913
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00519
Quality Score
Status
Chromosome7
Chromosomal Location37959992-38023551 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37961553 bp
ZygosityHeterozygous
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]
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: 43,569,525 N309K probably damaging Het
Asap1 G A 15: 64,110,942 P846S probably damaging Het
Atg10 A G 13: 91,154,211 probably benign Het
Cdk18 C A 1: 132,115,488 R433L probably benign Het
Celsr1 A G 15: 86,030,836 Y979H probably damaging Het
Cracr2b T C 7: 141,465,757 probably benign Het
Csmd2 T C 4: 128,483,473 F2049L probably benign Het
Cubn T C 2: 13,282,919 N3450D probably benign Het
Dmrt1 T C 19: 25,603,274 L350P probably damaging Het
Dnah5 A T 15: 28,444,218 D4054V probably benign Het
Dpp8 A T 9: 65,078,008 T783S probably damaging Het
Enpp3 T C 10: 24,787,772 T564A probably benign Het
Exoc6b T C 6: 84,989,453 K180E probably benign Het
Faf1 T A 4: 109,840,381 F301L probably benign Het
Fbxo7 A T 10: 86,029,064 E77V probably damaging Het
Gabpa T G 16: 84,860,601 *455G probably null Het
Hexim2 A T 11: 103,134,079 M1L probably benign Het
Lrrc24 T A 15: 76,718,063 N164I probably damaging Het
Lrrc8b G A 5: 105,481,725 A646T possibly damaging Het
Mansc1 T A 6: 134,610,806 Q136L possibly damaging Het
Mlxip T A 5: 123,447,205 V592E probably benign Het
Ncor2 T C 5: 125,084,924 T429A unknown Het
Tbcd A G 11: 121,575,321 N591S probably damaging Het
Tenm4 T C 7: 96,805,138 probably benign Het
Ush2a C T 1: 188,444,668 S1343L probably benign Het
Other mutations in Uri1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Uri1 APN 7 37996731 splice site probably benign
IGL01921:Uri1 APN 7 37981647 nonsense probably null
IGL02538:Uri1 APN 7 37965491 missense probably benign
IGL02750:Uri1 APN 7 37967481 nonsense probably null
R0677:Uri1 UTSW 7 37965500 missense probably benign 0.01
R0863:Uri1 UTSW 7 37969675 missense probably damaging 0.98
R0945:Uri1 UTSW 7 37969678 missense probably damaging 0.98
R1582:Uri1 UTSW 7 37965386 missense possibly damaging 0.93
R1700:Uri1 UTSW 7 37963524 missense probably damaging 1.00
R1793:Uri1 UTSW 7 37981691 missense probably damaging 1.00
R1839:Uri1 UTSW 7 37967389 missense probably benign 0.19
R1915:Uri1 UTSW 7 37961678 missense probably damaging 0.98
R3967:Uri1 UTSW 7 37965502 missense possibly damaging 0.85
R5609:Uri1 UTSW 7 37963529 nonsense probably null
R6022:Uri1 UTSW 7 37961477 utr 3 prime probably benign
R6395:Uri1 UTSW 7 37962549 missense probably benign 0.00
R6873:Uri1 UTSW 7 37965339 missense probably benign 0.00
Posted On2012-04-20