Mutagenetix > Incidental Mutation

Incidental Mutation 'R6263:Wrap53'

506835

Institutional Source

Beutler Lab

Gene Symbol

Wrap53

Ensembl Gene

ENSMUSG00000041346

Gene Name

WD repeat containing, antisense to Trp53

Synonyms

Wdr79

MMRRC Submission

044437-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69452580-69471076 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 69453619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 324 (Y324*)

Ref Sequence

ENSEMBL: ENSMUSP00000047825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004036] [ENSMUST00000048139]

AlphaFold

Q8VC51

Predicted Effect

probably benign
Transcript: ENSMUST00000004036

SMART Domains

Protein: ENSMUSP00000004036
Gene: ENSMUSG00000003934

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Ephrin	28	167	2.8e-45	PFAM
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	264	291	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000048139
AA Change: Y324*

SMART Domains

Protein: ENSMUSP00000047825
Gene: ENSMUSG00000041346
AA Change: Y324*

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
WD40	144	181	5.75e-1	SMART
Blast:WD40	197	242	3e-18	BLAST
WD40	245	288	1.67e-1	SMART
WD40	295	337	3.58e-1	SMART
WD40	340	380	1.19e-6	SMART
WD40	384	425	8.25e0	SMART
Blast:WD40	435	471	1e-14	BLAST
low complexity region	479	491	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155894

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,995,641 (GRCm39)	I5642V	probably benign	Het
Atp5f1a	A	G	18: 77,866,930 (GRCm39)		probably null	Het
Bltp1	T	A	3: 36,985,260 (GRCm39)	N863K	probably benign	Het
Bsn	A	T	9: 107,990,453 (GRCm39)	F1766L	probably damaging	Het
Ccdc141	T	C	2: 76,938,807 (GRCm39)	Q266R	probably damaging	Het
Cdh10	T	A	15: 18,964,154 (GRCm39)	D105E	possibly damaging	Het
Clca3a1	T	A	3: 144,455,539 (GRCm39)	D418V	probably damaging	Het
Cnnm2	C	A	19: 46,845,344 (GRCm39)	T612K	probably benign	Het
Col3a1	T	C	1: 45,360,735 (GRCm39)	V55A	unknown	Het
Cpd	A	C	11: 76,737,097 (GRCm39)	D232E	probably benign	Het
Csde1	A	G	3: 102,947,333 (GRCm39)	H95R	probably benign	Het
Ctcfl	T	A	2: 172,937,130 (GRCm39)	H596L	probably benign	Het
Cwc22	T	C	2: 77,726,515 (GRCm39)	R855G	possibly damaging	Het
Cwc25	A	G	11: 97,644,053 (GRCm39)	Y227H	probably damaging	Het
Cyp2c38	G	A	19: 39,380,659 (GRCm39)	P409S	probably damaging	Het
Ddx5	A	G	11: 106,679,139 (GRCm39)	S2P	possibly damaging	Het
Dnah2	C	A	11: 69,348,238 (GRCm39)	G2570W	probably damaging	Het
Dnajc10	T	A	2: 80,174,292 (GRCm39)	V528E	probably damaging	Het
Efcab3	G	A	11: 104,810,312 (GRCm39)	D3150N	unknown	Het
Fmo1	A	G	1: 162,677,629 (GRCm39)		probably null	Het
Gpatch1	C	A	7: 35,002,848 (GRCm39)	D221Y	probably damaging	Het
Ino80	T	C	2: 119,213,895 (GRCm39)	Y1225C	probably damaging	Het
Itga7	T	A	10: 128,779,955 (GRCm39)	D501E	probably benign	Het
Lgr4	T	C	2: 109,842,243 (GRCm39)	S743P	possibly damaging	Het
Lilra5	A	T	7: 4,241,360 (GRCm39)	Y99F	probably damaging	Het
Lmna	A	G	3: 88,410,265 (GRCm39)	V49A	probably damaging	Het
Lrrc72	G	A	12: 36,258,603 (GRCm39)	R267*	probably null	Het
Mapkbp1	T	C	2: 119,853,772 (GRCm39)	S1199P	probably damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Myh10	A	T	11: 68,701,058 (GRCm39)	N1756Y	probably damaging	Het
Nfe2	A	G	15: 103,159,378 (GRCm39)	I31T	probably damaging	Het
Nfe2l1	A	T	11: 96,708,570 (GRCm39)	F732I	probably benign	Het
Or4a39	C	G	2: 89,237,074 (GRCm39)	M116I	possibly damaging	Het
Or4c12b	T	A	2: 89,647,104 (GRCm39)	C145S	probably damaging	Het
Or52e19b	C	A	7: 103,032,403 (GRCm39)	V269F	possibly damaging	Het
Pax6	T	C	2: 105,523,199 (GRCm39)		probably null	Het
Phb1	A	G	11: 95,568,941 (GRCm39)	E192G	probably damaging	Het
Plekhn1	A	T	4: 156,309,650 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,046,189 (GRCm39)	V942E	probably damaging	Het
Potegl	T	A	2: 23,156,745 (GRCm39)		probably benign	Het
Rsrc2	G	A	5: 123,877,751 (GRCm39)		probably benign	Het
Septin8	G	A	11: 53,439,210 (GRCm39)	C460Y	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,130,508 (GRCm39)	I59T	probably benign	Het
Slc35d1	A	T	4: 103,065,365 (GRCm39)	I172N	possibly damaging	Het
Smg5	A	T	3: 88,249,208 (GRCm39)	N40Y	possibly damaging	Het
Smurf1	A	G	5: 144,818,541 (GRCm39)	V633A	probably damaging	Het
Snx9	T	C	17: 5,937,324 (GRCm39)	V22A	probably damaging	Het
Sox6	A	T	7: 115,076,295 (GRCm39)	M741K	probably damaging	Het
Spata31d1d	T	C	13: 59,873,797 (GRCm39)	Q1246R	probably benign	Het
Sval1	A	G	6: 41,928,660 (GRCm39)	E24G	probably damaging	Het
Tas2r124	A	G	6: 132,731,867 (GRCm39)	I59V	probably benign	Het
Tmem151b	T	A	17: 45,857,992 (GRCm39)	T85S	probably benign	Het
Tpr	T	A	1: 150,317,996 (GRCm39)		probably null	Het
Trpm6	A	C	19: 18,831,472 (GRCm39)	T1446P	possibly damaging	Het
Tsc22d4	A	T	5: 137,766,441 (GRCm39)	K502N	possibly damaging	Het
Tssk3	C	T	4: 129,383,051 (GRCm39)	S207N	probably benign	Het
Ttbk1	G	T	17: 46,778,188 (GRCm39)	P618Q	probably damaging	Het
Ttll6	A	T	11: 96,047,371 (GRCm39)	M657L	probably benign	Het
Ubash3a	T	A	17: 31,434,069 (GRCm39)	I138N	probably benign	Het
Ush2a	A	G	1: 188,090,839 (GRCm39)	Y490C	probably damaging	Het
Vmn1r82	G	T	7: 12,039,461 (GRCm39)	V127F	probably damaging	Het
Vmn2r32	A	T	7: 7,479,691 (GRCm39)	S161T	possibly damaging	Het
Wdr49	T	C	3: 75,388,824 (GRCm39)	I58M	possibly damaging	Het
Wiz	A	T	17: 32,579,417 (GRCm39)		probably null	Het
Zfp747	A	C	7: 126,975,138 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,905,702 (GRCm39)	Y33C	probably damaging	Het

Other mutations in Wrap53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Wrap53	APN	11	69,453,566 (GRCm39)	missense	possibly damaging	0.72
IGL02342:Wrap53	APN	11	69,454,417 (GRCm39)	missense	probably damaging	0.99
P4748:Wrap53	UTSW	11	69,453,031 (GRCm39)	missense	probably damaging	1.00
R0021:Wrap53	UTSW	11	69,454,712 (GRCm39)	missense	probably damaging	0.99
R0060:Wrap53	UTSW	11	69,454,256 (GRCm39)	missense	possibly damaging	0.88
R0682:Wrap53	UTSW	11	69,453,272 (GRCm39)	missense	probably damaging	1.00
R1061:Wrap53	UTSW	11	69,453,226 (GRCm39)	missense	probably damaging	1.00
R1708:Wrap53	UTSW	11	69,454,761 (GRCm39)	nonsense	probably null
R1868:Wrap53	UTSW	11	69,452,990 (GRCm39)	missense	probably null	0.46
R3113:Wrap53	UTSW	11	69,454,144 (GRCm39)	missense	probably benign	0.31
R5091:Wrap53	UTSW	11	69,453,273 (GRCm39)	nonsense	probably null
R5119:Wrap53	UTSW	11	69,454,758 (GRCm39)	missense	possibly damaging	0.84
R6337:Wrap53	UTSW	11	69,468,511 (GRCm39)	missense	probably benign	0.30
R6537:Wrap53	UTSW	11	69,454,694 (GRCm39)	missense	possibly damaging	0.49
R6628:Wrap53	UTSW	11	69,452,970 (GRCm39)	missense	probably benign	0.00
R7111:Wrap53	UTSW	11	69,453,305 (GRCm39)	missense	probably damaging	1.00
R7138:Wrap53	UTSW	11	69,454,694 (GRCm39)	missense	probably benign	0.32
R7431:Wrap53	UTSW	11	69,469,313 (GRCm39)	missense	possibly damaging	0.88
X0063:Wrap53	UTSW	11	69,469,363 (GRCm39)	missense	probably benign
Z1088:Wrap53	UTSW	11	69,469,324 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCCACATGCTTTGGGCTC -3'
(R):5'- GCTAGGCTCTTTAGGGAACTG -3'

Sequencing Primer
(F):5'- ATGCTTTGGGCTCTGACCAATAC -3'
(R):5'- CTCTTTAGGGAACTGAGTGACCC -3'

Posted On

2018-03-15