Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02342:Wrap53'

289139

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wrap53

Ensembl Gene

ENSMUSG00000041346

Gene Name

WD repeat containing, antisense to Trp53

Synonyms

Wdr79

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02342

Quality Score

Status

Chromosome

Chromosomal Location

69452580-69471076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69454417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 244 (F244L)

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 damaging
Transcript: ENSMUST00000048139
AA Change: F244L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047825
Gene: ENSMUSG00000041346
AA Change: F244L

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

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 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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	C	A	10: 43,050,997 (GRCm39)	P97Q	probably damaging	Het
Abcb10	A	T	8: 124,688,773 (GRCm39)	V501E	probably damaging	Het
Acsf3	T	C	8: 123,544,237 (GRCm39)	Y572H	probably benign	Het
Adamts3	A	T	5: 89,839,332 (GRCm39)		probably null	Het
Alox8	A	G	11: 69,077,053 (GRCm39)	L480P	probably damaging	Het
Arhgap35	G	A	7: 16,296,305 (GRCm39)	T920I	probably benign	Het
Brca2	C	A	5: 150,466,289 (GRCm39)	L2018M	possibly damaging	Het
Brdt	C	A	5: 107,490,069 (GRCm39)	H45N	probably damaging	Het
C1s2	A	G	6: 124,609,075 (GRCm39)	F155L	probably damaging	Het
Ccser2	A	G	14: 36,640,562 (GRCm39)		probably benign	Het
Cd8a	T	A	6: 71,350,723 (GRCm39)	C63S	probably damaging	Het
Clk2	A	T	3: 89,082,998 (GRCm39)	T424S	probably benign	Het
Cntn1	A	G	15: 92,143,898 (GRCm39)	E287G	probably benign	Het
Cobl	A	C	11: 12,203,672 (GRCm39)	V928G	possibly damaging	Het
Col12a1	A	G	9: 79,557,178 (GRCm39)		probably null	Het
Crnkl1	A	T	2: 145,766,633 (GRCm39)		probably null	Het
Defb26	T	C	2: 152,350,121 (GRCm39)	N53S	possibly damaging	Het
Duox1	A	T	2: 122,177,793 (GRCm39)	T1526S	probably damaging	Het
Dync2h1	A	G	9: 7,142,246 (GRCm39)	L1233P	probably damaging	Het
Eif5a2	A	G	3: 28,847,910 (GRCm39)	E116G	possibly damaging	Het
Garin1b	A	G	6: 29,323,829 (GRCm39)	T185A	possibly damaging	Het
Gdap2	G	A	3: 100,085,632 (GRCm39)	A185T	probably damaging	Het
Grm8	T	C	6: 27,363,803 (GRCm39)	R571G	probably benign	Het
Hjv	G	A	3: 96,435,488 (GRCm39)	D249N	possibly damaging	Het
Hsp90b1	T	C	10: 86,531,603 (GRCm39)		probably null	Het
Ift70a1	G	T	2: 75,810,976 (GRCm39)	T369K	probably benign	Het
Ighv1-75	T	G	12: 115,797,878 (GRCm39)		probably benign	Het
Ikzf1	A	G	11: 11,650,216 (GRCm39)		probably benign	Het
Itprid2	A	G	2: 79,490,629 (GRCm39)	N943S	probably benign	Het
Kdm4d	A	G	9: 14,374,860 (GRCm39)	W333R	probably damaging	Het
Lama3	A	T	18: 12,624,533 (GRCm39)	N1426I	probably damaging	Het
Lmbrd1	A	G	1: 24,743,959 (GRCm39)	Y119C	probably damaging	Het
Mctp1	A	G	13: 77,172,976 (GRCm39)	Y884C	probably damaging	Het
Naip6	G	T	13: 100,439,748 (GRCm39)	P340T	possibly damaging	Het
Nfkbib	G	T	7: 28,461,528 (GRCm39)	H70N	probably damaging	Het
Nol4	A	T	18: 22,903,926 (GRCm39)		probably benign	Het
Obscn	C	T	11: 58,891,914 (GRCm39)	A6873T	probably benign	Het
Or2ag1	A	G	7: 106,313,232 (GRCm39)	S219P	probably benign	Het
Or51b4	T	A	7: 103,530,587 (GRCm39)	I288F	probably benign	Het
Or6x1	T	A	9: 40,098,823 (GRCm39)	N137K	probably benign	Het
Paqr6	A	G	3: 88,273,491 (GRCm39)	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,710,493 (GRCm39)	D274V	probably damaging	Het
Phip	A	G	9: 82,768,745 (GRCm39)	Y1196H	probably damaging	Het
Prc1	T	C	7: 79,959,190 (GRCm39)	L345S	probably damaging	Het
Smpdl3a	A	G	10: 57,685,276 (GRCm39)		probably benign	Het
Tac1	G	T	6: 7,559,119 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,198,624 (GRCm39)	S1319T	possibly damaging	Het
Tg	A	G	15: 66,636,140 (GRCm39)	T576A	probably benign	Het
Thbs2	A	T	17: 14,896,578 (GRCm39)	D770E	probably damaging	Het
Tmem117	T	C	15: 94,909,331 (GRCm39)	V248A	possibly damaging	Het
Trpm8	T	C	1: 88,255,972 (GRCm39)	I209T	possibly damaging	Het
Wrap73	A	T	4: 154,233,237 (GRCm39)	Q137L	probably benign	Het
Zfhx4	A	T	3: 5,467,434 (GRCm39)	T2531S	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
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
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

Posted On

2015-04-16