Incidental Mutation 'IGL02750:Uri1'
ID306252
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 #IGL02750
Quality Score
Status
Chromosome7
Chromosomal Location37959992-38023551 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 37967481 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 176 (R176*)
Ref Sequence ENSEMBL: ENSMUSP00000145738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085513] [ENSMUST00000206581]
Predicted Effect probably null
Transcript: ENSMUST00000085513
AA Change: R174*
SMART Domains Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: R174*

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 probably benign
Transcript: ENSMUST00000205918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205927
Predicted Effect probably benign
Transcript: ENSMUST00000206169
Predicted Effect probably null
Transcript: ENSMUST00000206327
AA Change: R168*
Predicted Effect probably null
Transcript: ENSMUST00000206581
AA Change: R176*
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,548,791 K884R probably benign Het
Ano3 T A 2: 110,665,984 probably benign Het
Baz2b C A 2: 59,968,658 S374I possibly damaging Het
Brd4 G A 17: 32,198,379 probably benign Het
Cd3g C A 9: 44,971,310 probably benign Het
Ckmt1 C T 2: 121,363,615 probably benign Het
Clcnkb T C 4: 141,405,362 probably null Het
Dkkl1 C T 7: 45,210,112 probably null Het
Ehmt1 G A 2: 24,863,869 T161I probably damaging Het
Ern2 A G 7: 122,181,406 probably benign Het
Fmnl2 T C 2: 53,103,697 I368T possibly damaging Het
Gabra5 G T 7: 57,507,991 S25Y probably benign Het
Gemin7 C T 7: 19,565,419 V84M probably null Het
Gm17654 A G 14: 43,578,199 probably benign Het
Grk6 T C 13: 55,451,543 F186S probably damaging Het
Gtf2ird2 A G 5: 134,216,889 H663R probably damaging Het
Gtf3c1 T A 7: 125,676,512 I581F probably damaging Het
Herc2 T A 7: 56,204,379 probably benign Het
Hook3 A T 8: 26,095,754 probably benign Het
Ints4 T A 7: 97,517,757 probably null Het
Kpna6 T C 4: 129,661,377 N20D probably damaging Het
Krtap29-1 T C 11: 99,978,684 S124G probably benign Het
Krtap4-16 C A 11: 99,851,280 R98L possibly damaging Het
Lrrc28 T C 7: 67,531,683 D268G probably damaging Het
Mcm6 T A 1: 128,343,472 Q470L probably damaging Het
Neb T C 2: 52,291,055 H1180R probably benign Het
Nxpe3 C A 16: 55,860,375 V285L probably benign Het
Olfr118 T A 17: 37,672,609 C195* probably null Het
Olfr1281 A G 2: 111,329,288 R290G probably damaging Het
Olfr307 T A 7: 86,335,544 N284I probably damaging Het
Pdcd1 A G 1: 94,039,544 probably benign Het
Pnkp A G 7: 44,860,187 probably benign Het
Pou4f2 A T 8: 78,435,063 F304I probably damaging Het
Rita1 G A 5: 120,609,651 T194M possibly damaging Het
Rnpc3 T C 3: 113,621,939 T150A possibly damaging Het
Sema3b T C 9: 107,603,164 T168A probably benign Het
Skint5 T A 4: 113,539,362 M1205L unknown Het
Sox13 A C 1: 133,383,796 I566S probably benign Het
Tbc1d32 T C 10: 56,198,491 T209A possibly damaging Het
Tonsl G T 15: 76,633,389 P710Q probably damaging Het
Trpm5 T C 7: 143,074,484 H1018R possibly damaging Het
Ubr2 A T 17: 46,969,282 M647K probably benign Het
Ubr7 A T 12: 102,771,278 T395S possibly damaging Het
Vmn1r188 A T 13: 22,088,730 I285F probably damaging Het
Vmn2r116 T A 17: 23,397,634 probably benign Het
Vmn2r2 C A 3: 64,117,402 C586F probably damaging Het
Vmn2r96 T A 17: 18,582,589 W62R probably benign Het
Zfp24 A T 18: 24,017,353 S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 K1254R probably null 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
IGL01921:Uri1 APN 7 37981647 nonsense probably null
IGL02538:Uri1 APN 7 37965491 missense probably benign
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
R8765:Uri1 UTSW 7 37996720 missense probably benign 0.18
R8788:Uri1 UTSW 7 37961578 missense
Z1177:Uri1 UTSW 7 37981610 critical splice donor site probably null
Posted On2015-04-16