Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00978:Uri1'

27937

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

37959992-38023551 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 37996731 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085513] [ENSMUST00000206581]

Predicted Effect

probably benign
Transcript: ENSMUST00000085513

SMART Domains

Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000206327

Predicted Effect

probably benign
Transcript: ENSMUST00000206581

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
AU040320	T	A	4: 126,828,839	D383E	probably benign	Het
Cep97	C	T	16: 55,924,960		probably benign	Het
Clcn4	A	T	7: 7,287,673	L649H	probably damaging	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Eya1	A	G	1: 14,270,701		probably benign	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Gmeb2	A	T	2: 181,259,043	V187E	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245	D146V	probably damaging	Het
Krt36	T	C	11: 100,102,948	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Mylk3	A	T	8: 85,355,526	L211*	probably null	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp318	T	A	17: 46,413,726	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	Het

Other mutations in Uri1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Uri1	APN	7	37961553	missense	probably damaging	1.00
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
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 On

2013-04-17