Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02750:Uri1'

306252

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

37659417-37722976 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 37666906 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q3TLD5

Predicted Effect

probably null
Transcript: ENSMUST00000085513
AA Change: R174*

SMART Domains

Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: R174*

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	T	C	9: 14,460,087 (GRCm39)	K884R	probably benign	Het
Ano3	T	A	2: 110,496,329 (GRCm39)		probably benign	Het
Baz2b	C	A	2: 59,799,002 (GRCm39)	S374I	possibly damaging	Het
Brd4	G	A	17: 32,417,353 (GRCm39)		probably benign	Het
Cd3g	C	A	9: 44,882,608 (GRCm39)		probably benign	Het
Ckmt1	C	T	2: 121,194,096 (GRCm39)		probably benign	Het
Clcnkb	T	C	4: 141,132,673 (GRCm39)		probably null	Het
Dkkl1	C	T	7: 44,859,536 (GRCm39)		probably null	Het
Ehmt1	G	A	2: 24,753,881 (GRCm39)	T161I	probably damaging	Het
Ern2	A	G	7: 121,780,629 (GRCm39)		probably benign	Het
Fmnl2	T	C	2: 52,993,709 (GRCm39)	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,157,739 (GRCm39)	S25Y	probably benign	Het
Gemin7	C	T	7: 19,299,344 (GRCm39)	V84M	probably null	Het
Gm17654	A	G	14: 43,815,656 (GRCm39)		probably benign	Het
Grk6	T	C	13: 55,599,356 (GRCm39)	F186S	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,731 (GRCm39)	H663R	probably damaging	Het
Gtf3c1	T	A	7: 125,275,684 (GRCm39)	I581F	probably damaging	Het
Herc2	T	A	7: 55,854,127 (GRCm39)		probably benign	Het
Hook3	A	T	8: 26,585,782 (GRCm39)		probably benign	Het
Ints4	T	A	7: 97,166,964 (GRCm39)		probably null	Het
Kpna6	T	C	4: 129,555,170 (GRCm39)	N20D	probably damaging	Het
Krtap29-1	T	C	11: 99,869,510 (GRCm39)	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,742,106 (GRCm39)	R98L	possibly damaging	Het
Lrrc28	T	C	7: 67,181,431 (GRCm39)	D268G	probably damaging	Het
Mcm6	T	A	1: 128,271,209 (GRCm39)	Q470L	probably damaging	Het
Neb	T	C	2: 52,181,067 (GRCm39)	H1180R	probably benign	Het
Nxpe3	C	A	16: 55,680,738 (GRCm39)	V285L	probably benign	Het
Or10al2	T	A	17: 37,983,500 (GRCm39)	C195*	probably null	Het
Or14a260	T	A	7: 85,984,752 (GRCm39)	N284I	probably damaging	Het
Or4k37	A	G	2: 111,159,633 (GRCm39)	R290G	probably damaging	Het
Pdcd1	A	G	1: 93,967,269 (GRCm39)		probably benign	Het
Pnkp	A	G	7: 44,509,611 (GRCm39)		probably benign	Het
Pou4f2	A	T	8: 79,161,692 (GRCm39)	F304I	probably damaging	Het
Rita1	G	A	5: 120,747,716 (GRCm39)	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,415,588 (GRCm39)	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,480,363 (GRCm39)	T168A	probably benign	Het
Skint5	T	A	4: 113,396,559 (GRCm39)	M1205L	unknown	Het
Sox13	A	C	1: 133,311,534 (GRCm39)	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,074,587 (GRCm39)	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,517,589 (GRCm39)	P710Q	probably damaging	Het
Trpm5	T	C	7: 142,628,221 (GRCm39)	H1018R	possibly damaging	Het
Ubr2	A	T	17: 47,280,208 (GRCm39)	M647K	probably benign	Het
Ubr7	A	T	12: 102,737,537 (GRCm39)	T395S	possibly damaging	Het
Vmn1r188	A	T	13: 22,272,900 (GRCm39)	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,616,608 (GRCm39)		probably benign	Het
Vmn2r2	C	A	3: 64,024,823 (GRCm39)	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,802,851 (GRCm39)	W62R	probably benign	Het
Zfp24	A	T	18: 24,150,410 (GRCm39)	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236 (GRCm39)	K1254R	probably null	Het

Other mutations in Uri1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R6395:Uri1	UTSW	7	37,661,974 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16