Mutagenetix > Incidental Mutation

Incidental Mutation 'R0863:Uri1'

82188

Institutional Source

Beutler Lab

Gene Symbol

Uri1

Ensembl Gene

ENSMUSG00000030421

Gene Name

URI1, prefoldin-like chaperone

Synonyms

NNX3, Rmp, C80913

MMRRC Submission

039037-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37659417-37722976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37669100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 122 (D122E)

Gene Model

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

AlphaFold

Q3TLD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000085513
AA Change: D128E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: D128E

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

noncoding transcript
Transcript: ENSMUST00000205927

Predicted Effect

probably benign
Transcript: ENSMUST00000206169

Predicted Effect

probably damaging
Transcript: ENSMUST00000206327
AA Change: D122E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206581
AA Change: D130E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

94% (59/63)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,327,232 (GRCm39)		noncoding transcript	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abca14	A	T	7: 119,815,453 (GRCm39)	T234S	probably benign	Het
Acap1	C	A	11: 69,777,882 (GRCm39)	V119L	probably damaging	Het
Actr2	C	T	11: 20,030,760 (GRCm39)	V163I	probably benign	Het
Adcy4	T	C	14: 56,021,056 (GRCm39)	Y27C	probably damaging	Het
Arnt2	T	A	7: 83,914,792 (GRCm39)	K524M	probably damaging	Het
Brca1	T	C	11: 101,415,596 (GRCm39)	Y846C	probably benign	Het
Capn7	T	A	14: 31,091,714 (GRCm39)	C704S	possibly damaging	Het
Cep350	T	A	1: 155,737,981 (GRCm39)	I2621L	probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,848,748 (GRCm39)		probably null	Het
Erc2	A	C	14: 27,747,105 (GRCm39)	N345T	probably benign	Het
Fank1	A	G	7: 133,482,352 (GRCm39)	R73G	possibly damaging	Het
Fes	A	T	7: 80,030,634 (GRCm39)	W552R	probably damaging	Het
Fsd2	A	G	7: 81,191,913 (GRCm39)	V488A	possibly damaging	Het
Gfm1	T	C	3: 67,381,928 (GRCm39)	S705P	probably damaging	Het
Gm9493	A	T	19: 23,597,173 (GRCm39)	Q23L	probably benign	Het
Gucy1b2	T	C	14: 62,656,511 (GRCm39)	D282G	probably benign	Het
H2-Ab1	T	C	17: 34,486,328 (GRCm39)	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,677,582 (GRCm39)	Y232F	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lonp1	T	C	17: 56,925,331 (GRCm39)	K487R	probably damaging	Het
Ltbp1	A	G	17: 75,559,381 (GRCm39)	Y290C	probably damaging	Het
Ms4a10	C	T	19: 10,945,957 (GRCm39)	G58D	probably damaging	Het
Muc5b	A	G	7: 141,421,454 (GRCm39)	S4315G	probably benign	Het
Nlrp1b	T	A	11: 71,072,173 (GRCm39)	T557S	probably benign	Het
Nlrp3	A	G	11: 59,456,676 (GRCm39)	D946G	probably benign	Het
Obscn	T	C	11: 58,886,241 (GRCm39)		probably benign	Het
Oga	C	T	19: 45,771,425 (GRCm39)	A49T	probably benign	Het
Or10ab5	A	G	7: 108,244,865 (GRCm39)	I306T	probably benign	Het
Or5p50	T	C	7: 107,422,581 (GRCm39)	S32G	probably benign	Het
Or7e173	A	T	9: 19,938,509 (GRCm39)	S242T	probably damaging	Het
Pask	A	T	1: 93,242,061 (GRCm39)	F1219I	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Phf1	T	C	17: 27,156,114 (GRCm39)		probably benign	Het
Plec	G	A	15: 76,058,280 (GRCm39)	Q3751*	probably null	Het
Plscr1l1	A	T	9: 92,233,140 (GRCm39)	I88L	possibly damaging	Het
Ppp1r12c	G	T	7: 4,489,365 (GRCm39)	Q240K	probably damaging	Het
Ralgapa1	A	T	12: 55,809,466 (GRCm39)	Y436*	probably null	Het
Ralgapa1	C	A	12: 55,829,562 (GRCm39)		probably benign	Het
Scel	T	A	14: 103,823,916 (GRCm39)	S381R	possibly damaging	Het
Sema4a	C	T	3: 88,355,456 (GRCm39)		probably benign	Het
Sltm	A	G	9: 70,469,190 (GRCm39)	T150A	probably benign	Het
Spag1	G	T	15: 36,192,193 (GRCm39)	K217N	probably damaging	Het
Ssh1	C	T	5: 114,104,792 (GRCm39)	R9H	probably damaging	Het
St3gal4	C	A	9: 34,964,744 (GRCm39)	V155F	probably damaging	Het
Stxbp5	C	T	10: 9,684,784 (GRCm39)	E539K	possibly damaging	Het
Tbc1d7	G	T	13: 43,308,161 (GRCm39)		probably benign	Het
Thnsl2	A	T	6: 71,111,208 (GRCm39)	L220*	probably null	Het
Tinf2	G	A	14: 55,917,566 (GRCm39)	P308S	probably benign	Het
Tnf	T	C	17: 35,420,120 (GRCm39)		probably benign	Het
Ttc21b	T	C	2: 66,073,117 (GRCm39)	I190V	probably benign	Het
Ttn	T	C	2: 76,537,391 (GRCm39)	T34846A	probably benign	Het
Ube4a	A	G	9: 44,861,114 (GRCm39)	V232A	possibly damaging	Het
Vmn2r94	T	G	17: 18,477,973 (GRCm39)	Q146P	probably damaging	Het
Zan	T	A	5: 137,456,901 (GRCm39)	E1278D	unknown	Het
Zfhx4	T	A	3: 5,310,375 (GRCm39)	S919R	possibly damaging	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
IGL02750:Uri1	APN	7	37,666,906 (GRCm39)	nonsense	probably null
R0677:Uri1	UTSW	7	37,664,925 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- TCATGGCTGGAAGCAATGAGACAC -3'
(R):5'- AAGGAACTTGGTAGCACTGTAACCAC -3'

Sequencing Primer
(F):5'- GAGACACAAGTAACTTGCTCTG -3'
(R):5'- GCACTGTAACCACAGGTTTAGTC -3'

Posted On

2013-11-08