Incidental Mutation 'R6395:Uri1'
ID 514714
Institutional Source Beutler Lab
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 # R6395 (G1)
Quality Score 219.009
Status Not validated
Chromosome 7
Chromosomal Location 37659417-37722976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37661974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 446 (V446L)
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: V444L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: V444L

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 unknown
Transcript: ENSMUST00000206327
AA Change: V438L
Predicted Effect probably benign
Transcript: ENSMUST00000206581
AA Change: V446L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.3%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 C A 2: 113,879,731 (GRCm39) E243* probably null Het
Ahi1 T C 10: 20,855,491 (GRCm39) I600T possibly damaging Het
Apob A G 12: 8,058,507 (GRCm39) T2330A probably benign Het
Cabin1 A T 10: 75,582,576 (GRCm39) M280K probably benign Het
Ccdc117 T C 11: 5,484,762 (GRCm39) probably null Het
Cct8 G T 16: 87,283,364 (GRCm39) Y292* probably null Het
Celf1 A G 2: 90,834,203 (GRCm39) I165V probably benign Het
Cenpc1 A T 5: 86,183,429 (GRCm39) N453K probably benign Het
Chst10 T C 1: 38,910,770 (GRCm39) I131M probably damaging Het
Cltc A G 11: 86,616,006 (GRCm39) I420T probably damaging Het
Cspg4b T G 13: 113,506,003 (GRCm39) C2377W probably damaging Het
Dact3 A C 7: 16,617,086 (GRCm39) Q95P probably damaging Het
Dennd2c T C 3: 103,056,540 (GRCm39) probably null Het
Dock2 G T 11: 34,182,874 (GRCm39) H1586Q probably damaging Het
Dst T C 1: 34,221,771 (GRCm39) M2525T probably benign Het
Egflam T C 15: 7,261,176 (GRCm39) H786R probably damaging Het
Eml6 T C 11: 29,759,321 (GRCm39) T811A probably benign Het
Epha1 T C 6: 42,343,106 (GRCm39) T148A probably damaging Het
Fsip1 A C 2: 118,067,406 (GRCm39) S306A probably damaging Het
Gga2 A T 7: 121,607,661 (GRCm39) probably null Het
Gm10801 C CGTT 2: 98,494,152 (GRCm39) probably benign Het
Gm9837 T A 11: 53,360,885 (GRCm39) probably benign Het
Gnl2 A T 4: 124,940,058 (GRCm39) Q310L probably damaging Het
H2-M1 T C 17: 36,982,701 (GRCm39) D53G probably benign Het
Hmcn2 T A 2: 31,259,269 (GRCm39) D1036E probably damaging Het
Htr3a A T 9: 48,811,871 (GRCm39) D381E probably benign Het
Igdcc4 G A 9: 65,042,400 (GRCm39) G106R probably damaging Het
Igfbp2 A G 1: 72,864,078 (GRCm39) T114A probably damaging Het
Ints14 A G 9: 64,885,406 (GRCm39) probably null Het
Kcnt1 T A 2: 25,799,251 (GRCm39) M906K possibly damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lars2 A G 9: 123,200,990 (GRCm39) Q18R probably benign Het
Mndal C T 1: 173,698,999 (GRCm39) C222Y possibly damaging Het
Msto1 C T 3: 88,812,781 (GRCm39) A1854V possibly damaging Het
Musk G A 4: 58,286,169 (GRCm39) G20R probably benign Het
Or6c215 G T 10: 129,638,013 (GRCm39) P127Q probably damaging Het
Oxct1 G T 15: 4,056,309 (GRCm39) S19I possibly damaging Het
Papss2 G A 19: 32,641,876 (GRCm39) G517D probably damaging Het
Parp14 T C 16: 35,676,918 (GRCm39) S1017G probably benign Het
Pde2a A G 7: 101,150,242 (GRCm39) Q227R probably benign Het
Pdlim5 G T 3: 142,020,183 (GRCm39) P92Q probably damaging Het
Pkd1l3 C T 8: 110,350,595 (GRCm39) T480I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Ppp3ca A G 3: 136,583,531 (GRCm39) R213G possibly damaging Het
Pramel18 G A 4: 101,767,189 (GRCm39) R146H probably benign Het
Prrc1 C T 18: 57,495,619 (GRCm39) S32L probably null Het
Prss47 C T 13: 65,197,116 (GRCm39) V207I probably benign Het
Prtg G A 9: 72,819,414 (GRCm39) V1136I possibly damaging Het
Psmb8 T A 17: 34,418,265 (GRCm39) M69K possibly damaging Het
Rb1 A T 14: 73,436,636 (GRCm39) D876E probably damaging Het
Rnasel T C 1: 153,637,867 (GRCm39) M680T probably damaging Het
Rnf111 G T 9: 70,383,692 (GRCm39) N80K possibly damaging Het
Senp1 C T 15: 97,946,074 (GRCm39) C557Y probably damaging Het
Serpina3a A T 12: 104,082,710 (GRCm39) Y161F probably damaging Het
Serpinb11 A T 1: 107,299,781 (GRCm39) probably null Het
Sgpl1 C A 10: 60,947,936 (GRCm39) probably null Het
Slc37a4 A G 9: 44,310,576 (GRCm39) Y60C probably damaging Het
Slc38a10 A G 11: 120,015,208 (GRCm39) S381P probably benign Het
Slc5a7 C T 17: 54,585,849 (GRCm39) V323I probably damaging Het
Slco1a7 T A 6: 141,668,818 (GRCm39) probably null Het
Smarcal1 A T 1: 72,655,716 (GRCm39) E665V possibly damaging Het
Specc1 C A 11: 62,023,164 (GRCm39) N736K probably damaging Het
Tas2r121 T C 6: 132,677,495 (GRCm39) Y159C probably benign Het
Tex54 A G 19: 8,718,462 (GRCm39) D68G probably benign Het
Trank1 A G 9: 111,196,268 (GRCm39) I1431V probably damaging Het
Ttll6 T C 11: 96,047,414 (GRCm39) V671A probably benign Het
Ttn A T 2: 76,748,931 (GRCm39) probably benign Het
Uimc1 T C 13: 55,188,389 (GRCm39) T557A possibly damaging Het
Vpreb1b C T 16: 17,798,771 (GRCm39) R86C probably damaging Het
Vwa8 A G 14: 79,331,184 (GRCm39) K1231E probably benign Het
Xcr1 G A 9: 123,684,854 (GRCm39) R303C probably damaging Het
Zfp619 C A 7: 39,186,454 (GRCm39) A828E possibly damaging Het
Zfp687 T C 3: 94,915,049 (GRCm39) S1151G possibly damaging Het
Other mutations in Uri1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AACTACCTAGTATTTGGACCGTC -3'
(R):5'- CAGTTACAAGCCCTTAAAATGGAG -3'

Sequencing Primer
(F):5'- AGTATTTGGACCGTCTCCCC -3'
(R):5'- GTTCCTCGCAAGTCAATC -3'
Posted On 2018-05-04