Incidental Mutation 'IGL01921:Uri1'
ID180088
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 #IGL01921
Quality Score
Status
Chromosome7
Chromosomal Location37959992-38023551 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 37981647 bp
ZygosityHeterozygous
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]
Predicted Effect probably null
Transcript: ENSMUST00000085513
AA Change: K109*
SMART Domains Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: K109*

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Uri1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Uri1 APN 7 37961553 missense probably damaging 1.00
IGL00978:Uri1 APN 7 37996731 splice site probably benign
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
R7602:Uri1 UTSW 7 37981628 missense probably benign 0.14
R8108:Uri1 UTSW 7 37981673 missense possibly damaging 0.91
Z1177:Uri1 UTSW 7 37981610 critical splice donor site probably null
Posted On2014-05-07