Mutagenetix > Incidental Mutation

Incidental Mutation 'R6337:Wrap53'

513763

Institutional Source

Beutler Lab

Gene Symbol

Wrap53

Ensembl Gene

ENSMUSG00000041346

Gene Name

WD repeat containing, antisense to Trp53

Synonyms

Wdr79

MMRRC Submission

044491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69452580-69471076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69468511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 179 (I179V)

Ref Sequence

ENSEMBL: ENSMUSP00000047825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005371] [ENSMUST00000048139] [ENSMUST00000108657] [ENSMUST00000108658] [ENSMUST00000132548] [ENSMUST00000171247]

AlphaFold

Q8VC51

Predicted Effect

probably benign
Transcript: ENSMUST00000005371

SMART Domains

Protein: ENSMUSP00000005371
Gene: ENSMUSG00000059552

Domain	Start	End	E-Value	Type
Pfam:P53_TAD	5	28	1.3e-10	PFAM
low complexity region	69	86	N/A	INTRINSIC
Pfam:P53	89	283	8.2e-108	PFAM
Pfam:P53_tetramer	312	353	4.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048139
AA Change: I179V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047825
Gene: ENSMUSG00000041346
AA Change: I179V

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

probably benign
Transcript: ENSMUST00000108657

SMART Domains

Protein: ENSMUSP00000104297
Gene: ENSMUSG00000059552

Domain	Start	End	E-Value	Type
Pfam:P53_TAD	5	28	6.1e-11	PFAM
low complexity region	69	86	N/A	INTRINSIC
Pfam:P53	89	283	4.7e-108	PFAM
Pfam:P53_tetramer	312	353	1.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108658

SMART Domains

Protein: ENSMUSP00000104298
Gene: ENSMUSG00000059552

Domain	Start	End	E-Value	Type
Pfam:P53_TAD	8	31	1.4e-12	PFAM
low complexity region	72	89	N/A	INTRINSIC
Pfam:P53	92	286	9.8e-113	PFAM
Pfam:P53_tetramer	316	355	5.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132548

SMART Domains

Protein: ENSMUSP00000121040
Gene: ENSMUSG00000041346

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
Blast:WD40	141	170	6e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147512

Predicted Effect

probably benign
Transcript: ENSMUST00000171247

SMART Domains

Protein: ENSMUSP00000127130
Gene: ENSMUSG00000059552

Domain	Start	End	E-Value	Type
Pfam:P53_TAD	8	31	1.2e-10	PFAM
low complexity region	72	89	N/A	INTRINSIC
Pfam:P53	92	286	7.9e-108	PFAM
Pfam:P53_tetramer	315	356	4.3e-21	PFAM

Meta Mutation Damage Score

0.0841

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	G	3: 89,969,040 (GRCm39)	V221G	probably benign	Het
Abca12	G	A	1: 71,334,172 (GRCm39)	A1110V	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Acsm5	G	A	7: 119,133,458 (GRCm39)	A208T	probably benign	Het
Adcyap1	T	A	17: 93,509,709 (GRCm39)	Y53*	probably null	Het
Adgrg7	T	A	16: 56,572,788 (GRCm39)	I343F	probably damaging	Het
Agl	T	A	3: 116,580,426 (GRCm39)	K376M	possibly damaging	Het
Akna	A	G	4: 63,292,240 (GRCm39)	Y1142H	probably benign	Het
Anks1b	A	T	10: 90,757,158 (GRCm39)	T182S	probably benign	Het
Apol7e	T	A	15: 77,598,582 (GRCm39)	Y16N	possibly damaging	Het
Bptf	G	T	11: 106,949,605 (GRCm39)	T2238K	possibly damaging	Het
Ccdc87	A	G	19: 4,889,829 (GRCm39)	E107G	probably benign	Het
Ccng2	C	T	5: 93,418,780 (GRCm39)	A135V	probably benign	Het
Chd8	C	A	14: 52,441,566 (GRCm39)	R842L	probably damaging	Het
Cldn18	T	A	9: 99,591,995 (GRCm39)	T3S	probably benign	Het
Dhcr7	T	C	7: 143,390,468 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dusp26	T	C	8: 31,586,325 (GRCm39)	V182A	probably damaging	Het
Eif3e	T	C	15: 43,115,692 (GRCm39)	D358G	possibly damaging	Het
Epha3	A	T	16: 63,388,806 (GRCm39)	L814H	probably damaging	Het
Flnc	A	G	6: 29,454,318 (GRCm39)	N1877S	probably damaging	Het
Fpgs	A	T	2: 32,577,953 (GRCm39)	Y156*	probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5591	T	C	7: 38,221,319 (GRCm39)	D250G	probably benign	Het
Gtf2e2	C	T	8: 34,266,043 (GRCm39)	R240*	probably null	Het
Hells	G	T	19: 38,943,254 (GRCm39)	Q519H	probably benign	Het
Hscb	A	G	5: 110,987,360 (GRCm39)		probably null	Het
Inpp5k	T	A	11: 75,537,640 (GRCm39)	I350N	probably damaging	Het
Irf9	G	A	14: 55,843,799 (GRCm39)	V221I	possibly damaging	Het
Itga8	A	T	2: 12,258,280 (GRCm39)	Y261*	probably null	Het
Itprid2	G	A	2: 79,485,463 (GRCm39)	D506N	probably damaging	Het
Lama1	C	T	17: 68,093,014 (GRCm39)	T1684M	probably benign	Het
Lrp2	A	T	2: 69,268,811 (GRCm39)	H4157Q	probably damaging	Het
Nceh1	G	T	3: 27,276,956 (GRCm39)	R93L	probably damaging	Het
Nell2	A	G	15: 95,283,025 (GRCm39)	F339S	probably damaging	Het
Or2t49	A	T	11: 58,392,838 (GRCm39)	C181*	probably null	Het
Phf11a	C	A	14: 59,521,817 (GRCm39)	C118F	probably damaging	Het
Purg	A	G	8: 33,876,451 (GRCm39)	K30E	possibly damaging	Het
Qprt	C	T	7: 126,708,101 (GRCm39)	R110H	probably damaging	Het
Robo2	T	C	16: 73,725,039 (GRCm39)	T1055A	probably benign	Het
Serpina3a	T	C	12: 104,079,137 (GRCm39)	F10L	probably benign	Het
Sidt1	A	T	16: 44,121,298 (GRCm39)		probably null	Het
Slc4a4	T	A	5: 89,194,231 (GRCm39)	M237K	probably benign	Het
Slitrk5	A	T	14: 111,917,684 (GRCm39)	D436V	probably damaging	Het
Snd1	T	C	6: 28,888,288 (GRCm39)	Y908H	probably damaging	Het
Sorcs1	A	G	19: 50,132,562 (GRCm39)	V1132A	probably benign	Het
Speer3	A	G	5: 13,843,369 (GRCm39)	E92G	probably damaging	Het
Strada	T	C	11: 106,064,143 (GRCm39)	E58G	possibly damaging	Het
Tbx10	A	T	19: 4,047,312 (GRCm39)	K139*	probably null	Het
Tcf4	T	C	18: 69,766,651 (GRCm39)	Y25H	probably damaging	Het
Tmem108	C	T	9: 103,376,960 (GRCm39)	R163H	possibly damaging	Het
Top2b	A	G	14: 16,399,026 (GRCm38)	T549A	possibly damaging	Het
Tpcn2	A	G	7: 144,833,080 (GRCm39)	I46T	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vipr2	T	A	12: 116,086,363 (GRCm39)	Y129*	probably null	Het
Vps37a	A	T	8: 40,993,749 (GRCm39)	Q248L	probably benign	Het
Zan	G	A	5: 137,450,750 (GRCm39)	A1609V	unknown	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb5	G	A	4: 44,993,459 (GRCm39)	R642W	probably damaging	Het
Zfyve27	A	G	19: 42,171,096 (GRCm39)		probably null	Het
Zup1	T	C	10: 33,825,252 (GRCm39)	N77D	probably benign	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
R6263:Wrap53	UTSW	11	69,453,619 (GRCm39)	nonsense	probably null
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'- AAACACCGGCTCCTGACTAG -3'
(R):5'- CGAGCTTGTTTCCCTAGAGC -3'

Sequencing Primer
(F):5'- GGCTCCTGACTAGTCTTTAAATGAC -3'
(R):5'- CTAGAGCCGGGTGTCTTCTCAG -3'

Posted On

2018-04-27