Mutagenetix > Incidental Mutation

Incidental Mutation 'R7138:Wrap53'

553211

Institutional Source

Beutler Lab

Gene Symbol

Wrap53

Ensembl Gene

ENSMUSG00000041346

Gene Name

WD repeat containing, antisense to Trp53

Synonyms

Wdr79

MMRRC Submission

045249-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69452580-69471076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69454694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 225 (D225V)

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 benign
Transcript: ENSMUST00000048139
AA Change: D225V

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047825
Gene: ENSMUSG00000041346
AA Change: D225V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,113 (GRCm39)	C698*	probably null	Het
Acacb	G	A	5: 114,345,387 (GRCm39)	V947M	probably benign	Het
Acadsb	T	G	7: 131,042,968 (GRCm39)	L343R	probably damaging	Het
Adgrf2	C	T	17: 43,021,874 (GRCm39)	E317K	probably damaging	Het
Agap2	A	G	10: 126,923,154 (GRCm39)	T663A	unknown	Het
Akap8	A	T	17: 32,535,515 (GRCm39)	F166L	possibly damaging	Het
Ankrd17	A	T	5: 90,390,836 (GRCm39)	M2278K	probably benign	Het
Avl9	T	C	6: 56,705,242 (GRCm39)	S148P	probably damaging	Het
Brf1	T	C	12: 112,933,835 (GRCm39)	E266G	probably damaging	Het
Cabin1	T	C	10: 75,581,187 (GRCm39)	K380E	probably damaging	Het
Catsper2	T	C	2: 121,227,544 (GRCm39)	D542G	possibly damaging	Het
Cbln4	C	A	2: 171,884,095 (GRCm39)	D42Y	probably damaging	Het
Ccn6	T	A	10: 39,034,473 (GRCm39)	Q43L	possibly damaging	Het
Cd5	C	T	19: 10,697,668 (GRCm39)	R437Q	probably damaging	Het
Ceacam18	G	C	7: 43,288,706 (GRCm39)	E152D	possibly damaging	Het
Chd8	A	G	14: 52,451,955 (GRCm39)	S1347P	possibly damaging	Het
Chodl	T	G	16: 78,738,335 (GRCm39)	I101R	probably damaging	Het
Clk4	T	G	11: 51,168,759 (GRCm39)	F377L	probably damaging	Het
Cntnap3	C	T	13: 64,929,539 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,458,780 (GRCm39)	S231G	probably benign	Het
Disp2	T	A	2: 118,617,361 (GRCm39)	H118Q	probably benign	Het
Dnah10	T	C	5: 124,900,009 (GRCm39)	F3869S	probably damaging	Het
Edil3	C	T	13: 89,279,847 (GRCm39)	T175I	probably damaging	Het
Eif1ad18	T	G	12: 88,050,648 (GRCm39)	I61R	probably damaging	Het
Fap	A	G	2: 62,372,522 (GRCm39)	S319P	probably benign	Het
Frmpd2	T	A	14: 33,293,761 (GRCm39)	V1309E	probably benign	Het
Galntl5	T	A	5: 25,394,842 (GRCm39)	S70T	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gna15	G	A	10: 81,343,881 (GRCm39)	T260M	probably damaging	Het
Gucy2c	A	G	6: 136,705,342 (GRCm39)	I531T	probably damaging	Het
Heatr5b	A	G	17: 79,135,417 (GRCm39)	V238A	probably damaging	Het
Htr2a	A	G	14: 74,943,182 (GRCm39)	Y254C	probably damaging	Het
Inpp5b	A	G	4: 124,679,065 (GRCm39)	R491G	probably damaging	Het
Kcnt2	C	T	1: 140,523,778 (GRCm39)	L1093F	possibly damaging	Het
Kcp	C	A	6: 29,491,861 (GRCm39)	E922*	probably null	Het
Lrp2	G	A	2: 69,296,089 (GRCm39)	A3340V	possibly damaging	Het
Lrrn1	T	G	6: 107,545,336 (GRCm39)	V378G	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Net1	G	A	13: 3,938,510 (GRCm39)	R126C	probably damaging	Het
Nipsnap3a	T	C	4: 52,993,978 (GRCm39)	C20R	probably benign	Het
Nxpe2	C	T	9: 48,232,006 (GRCm39)	C317Y	probably damaging	Het
Or10v9	T	A	19: 11,832,652 (GRCm39)	I222F	probably damaging	Het
Or52h1	T	C	7: 103,829,504 (GRCm39)	Y37C	probably damaging	Het
Or8b8	T	C	9: 37,809,360 (GRCm39)	I220T	probably damaging	Het
Or8g54	T	G	9: 39,707,086 (GRCm39)	Y138*	probably null	Het
Orm1	T	A	4: 63,262,949 (GRCm39)	W39R	probably damaging	Het
Pds5b	A	T	5: 150,724,142 (GRCm39)	K1240*	probably null	Het
Pdss1	T	A	2: 22,802,681 (GRCm39)	H173Q	probably damaging	Het
Pebp1	A	G	5: 117,423,882 (GRCm39)	W84R	probably damaging	Het
Pla2g4e	C	T	2: 120,001,759 (GRCm39)	C630Y	probably damaging	Het
Plaat3	T	A	19: 7,556,550 (GRCm39)	V117E	probably damaging	Het
Plekho2	G	T	9: 65,463,635 (GRCm39)	Q405K	probably benign	Het
Plppr2	T	A	9: 21,855,708 (GRCm39)	V227E	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,589 (GRCm39)	D229E	probably benign	Het
Rapgef4	T	C	2: 72,028,707 (GRCm39)	S393P	probably damaging	Het
Rapgefl1	A	G	11: 98,737,900 (GRCm39)		probably null	Het
Ripk3	C	A	14: 56,025,803 (GRCm39)	R19L	probably benign	Het
Rnase10	G	T	14: 51,247,167 (GRCm39)	V182F	probably damaging	Het
Rsf1	T	A	7: 97,319,002 (GRCm39)	S917R		Het
Sephs2	T	C	7: 126,872,187 (GRCm39)	N302S	possibly damaging	Het
Slc13a2	C	T	11: 78,289,950 (GRCm39)	V455M	possibly damaging	Het
Slc30a2	A	T	4: 134,071,429 (GRCm39)	D54V	probably benign	Het
Slco6c1	T	C	1: 97,047,706 (GRCm39)	E199G	possibly damaging	Het
Snx27	A	T	3: 94,436,247 (GRCm39)	M256K	probably benign	Het
Spag4	T	A	2: 155,908,519 (GRCm39)	S150T	probably benign	Het
Spon1	T	A	7: 113,635,945 (GRCm39)	C720S	probably damaging	Het
Tbc1d22a	T	C	15: 86,123,356 (GRCm39)	S166P	probably benign	Het
Tbc1d9	T	C	8: 83,937,113 (GRCm39)	I65T	probably damaging	Het
Tmem176a	T	A	6: 48,820,953 (GRCm39)	V141D	probably damaging	Het
Tmem268	G	A	4: 63,480,687 (GRCm39)		probably benign	Het
Tonsl	A	G	15: 76,518,976 (GRCm39)	V519A	probably benign	Het
Ttn	G	A	2: 76,612,376 (GRCm39)	P17204S	possibly damaging	Het
Zfhx4	G	A	3: 5,477,107 (GRCm39)	A3241T	possibly damaging	Het
Zfp1002	T	C	2: 150,097,372 (GRCm39)	H47R	probably damaging	Het
Znfx1	T	C	2: 166,898,697 (GRCm39)	R76G	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
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
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'- GCTCTGACTGTCAAAAGGGAAC -3'
(R):5'- AGAGTTGCGTTCTTTGAGCCC -3'

Sequencing Primer
(F):5'- GGAACCAAGTGCCCAGC -3'
(R):5'- GCGTGCTCTTTCCTACCTGGATAG -3'

Posted On

2019-05-15