Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Uri1'

205597

Institutional Source

Beutler Lab

Gene Symbol

Uri1

Ensembl Gene

ENSMUSG00000030421

Gene Name

URI1, prefoldin-like chaperone

Synonyms

NNX3, Rmp, C80913

MMRRC Submission

045015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37959992-38023551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37967389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 206 (D206E)

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: D204E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000082646
Gene: ENSMUSG00000030421
AA Change: D204E

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

unknown
Transcript: ENSMUST00000206327
AA Change: D198E

Predicted Effect

probably benign
Transcript: ENSMUST00000206581
AA Change: D206E

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,409,720 (GRCm38)	T403A	probably damaging	Het
Acat3	T	A	17: 12,928,606 (GRCm38)	R175*	probably null	Het
Adam1b	C	A	5: 121,501,041 (GRCm38)	C647F	probably damaging	Het
Adam28	T	C	14: 68,639,210 (GRCm38)	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,689,261 (GRCm38)		probably null	Het
Adcy5	A	T	16: 35,248,940 (GRCm38)	N426I	probably damaging	Het
Adgre1	T	C	17: 57,441,299 (GRCm38)	S500P	probably benign	Het
Aloxe3	A	G	11: 69,130,085 (GRCm38)	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,727,108 (GRCm38)	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,849,326 (GRCm38)	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,361,782 (GRCm38)	A757S	possibly damaging	Het
Begain	G	A	12: 109,035,323 (GRCm38)		probably benign	Het
Ccdc141	T	C	2: 77,011,665 (GRCm38)	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,854,109 (GRCm38)		probably benign	Het
Ccnk	A	G	12: 108,195,074 (GRCm38)	T195A	probably damaging	Het
Cd55b	C	A	1: 130,414,105 (GRCm38)	C265F	probably damaging	Het
Celsr3	A	G	9: 108,829,906 (GRCm38)	H1196R	probably benign	Het
Cenpt	T	C	8: 105,849,014 (GRCm38)	S190G	possibly damaging	Het
Chd8	T	C	14: 52,204,883 (GRCm38)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833 (GRCm38)	H2296Y	probably benign	Het
Cxxc4	C	A	3: 134,240,653 (GRCm38)	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,496,741 (GRCm38)	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,381,301 (GRCm38)	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,713,526 (GRCm38)	I47V	probably benign	Het
Ddx5	A	T	11: 106,784,897 (GRCm38)	D322E	probably benign	Het
Dhx40	A	G	11: 86,789,297 (GRCm38)	C405R	possibly damaging	Het
Emc1	T	C	4: 139,360,485 (GRCm38)	F100S	probably damaging	Het
Exoc2	T	C	13: 30,906,497 (GRCm38)		probably benign	Het
Gm10110	A	T	14: 89,897,836 (GRCm38)		noncoding transcript	Het
Gm17332	T	C	11: 31,182,386 (GRCm38)	H26R	possibly damaging	Het
Gna12	T	C	5: 140,762,612 (GRCm38)	N183S	probably benign	Het
Gpx6	A	G	13: 21,312,327 (GRCm38)	N24D	probably benign	Het
Gsdma3	C	T	11: 98,629,858 (GRCm38)	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,619,728 (GRCm38)	Y134C	probably benign	Het
Ifi213	T	C	1: 173,589,600 (GRCm38)	I415M	probably damaging	Het
Ints9	C	A	14: 65,016,530 (GRCm38)	P278T	probably damaging	Het
Krt79	C	T	15: 101,937,938 (GRCm38)	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,683,134 (GRCm38)	N132S	probably benign	Het
Ltn1	T	A	16: 87,416,264 (GRCm38)	K470*	probably null	Het
Magi2	A	T	5: 20,465,827 (GRCm38)	T163S	probably damaging	Het
Mcm9	A	G	10: 53,541,553 (GRCm38)	M18T	probably damaging	Het
Med12l	A	G	3: 59,068,319 (GRCm38)	T212A	probably benign	Het
Mfhas1	T	C	8: 35,590,858 (GRCm38)	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,279,487 (GRCm38)	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myh7	T	C	14: 54,973,180 (GRCm38)	N1725S	possibly damaging	Het
Nat6	G	A	9: 107,583,017 (GRCm38)	R37H	possibly damaging	Het
Nme4	A	T	17: 26,092,097 (GRCm38)	W165R	probably damaging	Het
Nup205	T	A	6: 35,219,714 (GRCm38)	D1128E	probably benign	Het
Olfr291	T	C	7: 84,856,548 (GRCm38)	Y60H	probably damaging	Het
Olfr330	A	T	11: 58,529,373 (GRCm38)	Y204*	probably null	Het
Pcdh1	T	C	18: 38,199,485 (GRCm38)	D155G	possibly damaging	Het
Pex12	A	T	11: 83,297,822 (GRCm38)	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,078,957 (GRCm38)		probably benign	Het
Plekhh3	A	G	11: 101,163,600 (GRCm38)		probably benign	Het
Pnpt1	T	C	11: 29,154,342 (GRCm38)	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,837,981 (GRCm38)	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666 (GRCm38)		probably benign	Het
Rgs14	T	C	13: 55,382,838 (GRCm38)		probably benign	Het
Rhbdf2	A	T	11: 116,600,191 (GRCm38)	V645E	possibly damaging	Het
Robo3	A	G	9: 37,422,327 (GRCm38)	V696A	probably benign	Het
Sall1	A	G	8: 89,028,716 (GRCm38)	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,429,012 (GRCm38)	E109G	probably benign	Het
Serpind1	G	T	16: 17,342,992 (GRCm38)	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,789,179 (GRCm38)		probably benign	Het
Sstr4	C	A	2: 148,395,533 (GRCm38)	N21K	probably benign	Het
Tap1	C	T	17: 34,188,109 (GRCm38)	A77V	possibly damaging	Het
Thap4	T	C	1: 93,750,287 (GRCm38)	E259G	probably benign	Het
Thra	A	G	11: 98,756,143 (GRCm38)	N30S	probably benign	Het
Tmem207	A	T	16: 26,524,821 (GRCm38)	V27E	possibly damaging	Het
Top3a	A	G	11: 60,753,888 (GRCm38)	V305A	probably damaging	Het
Trim59	A	T	3: 69,037,638 (GRCm38)	I123K	probably damaging	Het
Ttn	T	C	2: 76,861,495 (GRCm38)		probably benign	Het
Ubac1	T	A	2: 26,007,738 (GRCm38)	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308 (GRCm38)		probably benign	Het
Utp4	A	G	8: 106,913,454 (GRCm38)	H465R	probably benign	Het
Uvssa	T	C	5: 33,389,752 (GRCm38)	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,805,233 (GRCm38)		probably null	Het
Vps39	A	T	2: 120,325,397 (GRCm38)	L514H	probably damaging	Het
Vps72	G	A	3: 95,119,218 (GRCm38)	R158Q	possibly damaging	Het
Wdr59	T	C	8: 111,485,340 (GRCm38)	D366G	probably benign	Het
Zfp366	C	A	13: 99,228,492 (GRCm38)	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,194,993 (GRCm38)	I34N	probably damaging	Het
Zfp974	G	A	7: 27,910,356 (GRCm38)	P648L	possibly damaging	Het

Other mutations in Uri1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Uri1	APN	7	37,961,553 (GRCm38)	missense	probably damaging	1.00
IGL00978:Uri1	APN	7	37,996,731 (GRCm38)	splice site	probably benign
IGL01921:Uri1	APN	7	37,981,647 (GRCm38)	nonsense	probably null
IGL02538:Uri1	APN	7	37,965,491 (GRCm38)	missense	probably benign
IGL02750:Uri1	APN	7	37,967,481 (GRCm38)	nonsense	probably null
R0677:Uri1	UTSW	7	37,965,500 (GRCm38)	missense	probably benign	0.01
R0863:Uri1	UTSW	7	37,969,675 (GRCm38)	missense	probably damaging	0.98
R0945:Uri1	UTSW	7	37,969,678 (GRCm38)	missense	probably damaging	0.98
R1582:Uri1	UTSW	7	37,965,386 (GRCm38)	missense	possibly damaging	0.93
R1700:Uri1	UTSW	7	37,963,524 (GRCm38)	missense	probably damaging	1.00
R1793:Uri1	UTSW	7	37,981,691 (GRCm38)	missense	probably damaging	1.00
R1915:Uri1	UTSW	7	37,961,678 (GRCm38)	missense	probably damaging	0.98
R3967:Uri1	UTSW	7	37,965,502 (GRCm38)	missense	possibly damaging	0.85
R5609:Uri1	UTSW	7	37,963,529 (GRCm38)	nonsense	probably null
R6022:Uri1	UTSW	7	37,961,477 (GRCm38)	utr 3 prime	probably benign
R6395:Uri1	UTSW	7	37,962,549 (GRCm38)	missense	probably benign	0.00
R6873:Uri1	UTSW	7	37,965,339 (GRCm38)	missense	probably benign	0.00
R7602:Uri1	UTSW	7	37,981,628 (GRCm38)	missense	probably benign	0.14
R8108:Uri1	UTSW	7	37,981,673 (GRCm38)	missense	possibly damaging	0.91
R8765:Uri1	UTSW	7	37,996,720 (GRCm38)	missense	probably benign	0.18
R8788:Uri1	UTSW	7	37,961,578 (GRCm38)	missense
R9095:Uri1	UTSW	7	37,963,448 (GRCm38)	missense	probably damaging	0.99
R9408:Uri1	UTSW	7	37,969,606 (GRCm38)	missense	probably benign	0.28
R9696:Uri1	UTSW	7	37,965,313 (GRCm38)	missense	probably benign	0.00
R9746:Uri1	UTSW	7	37,996,685 (GRCm38)	critical splice donor site	probably null
Z1177:Uri1	UTSW	7	37,981,610 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGGCATGCTGATCCTTC -3'
(R):5'- ACGGCTCTTTGAACAGGGTG -3'

Sequencing Primer
(F):5'- AAGGGCATGCTGATCCTTCTACAG -3'
(R):5'- CACTTGTGAAGGGCCCTATC -3'

Posted On

2014-06-23