Incidental Mutation 'IGL01510:Wrap53'
ID89182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wrap53
Ensembl Gene ENSMUSG00000041346
Gene NameWD repeat containing, antisense to Trp53
SynonymsWdr79
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01510
Quality Score
Status
Chromosome11
Chromosomal Location69561758-69580255 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 69562740 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 342 (S342L)
Ref Sequence ENSEMBL: ENSMUSP00000047825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004036] [ENSMUST00000048139]
Predicted Effect probably benign
Transcript: ENSMUST00000004036
SMART Domains Protein: ENSMUSP00000004036
Gene: ENSMUSG00000003934

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000048139
AA Change: S342L

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047825
Gene: ENSMUSG00000041346
AA Change: S342L

DomainStartEndE-ValueType
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,143,979 Q6R probably damaging Het
Adam5 A T 8: 24,804,465 C373S probably damaging Het
Adgre4 T C 17: 55,818,760 probably null Het
Akap10 A T 11: 61,878,020 M614K possibly damaging Het
Amigo2 T C 15: 97,245,081 T487A probably benign Het
Asap1 T C 15: 64,158,928 D300G probably damaging Het
Atp4a C A 7: 30,720,791 L788M probably benign Het
Bcl3 T A 7: 19,809,614 H309L probably damaging Het
Cblc T C 7: 19,785,275 N376S probably benign Het
Cd200r2 A T 16: 44,909,311 I110L probably benign Het
Ceacam3 T C 7: 17,159,842 M426T probably benign Het
Cep295 G A 9: 15,354,626 R29* probably null Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ctps G T 4: 120,558,844 T194K probably damaging Het
Cul3 A G 1: 80,282,679 S318P probably damaging Het
Fasl A T 1: 161,781,953 S155T possibly damaging Het
Gldc C T 19: 30,113,721 probably null Het
Gpr21 T A 2: 37,518,421 C326* probably null Het
Gtf2a1 A G 12: 91,567,833 S216P probably benign Het
Hoxb5 A T 11: 96,303,992 S127C possibly damaging Het
Htt A T 5: 34,907,512 Q3023L probably damaging Het
Kalrn T A 16: 34,235,330 H855L possibly damaging Het
Lars T C 18: 42,242,109 I289V probably benign Het
Lrig3 C A 10: 126,008,698 T677K probably damaging Het
Mapk7 A T 11: 61,491,160 W309R probably damaging Het
Mmp12 A G 9: 7,358,307 T468A possibly damaging Het
Muc5b A T 7: 141,859,061 N1915Y unknown Het
Naprt A G 15: 75,890,988 probably benign Het
Nfatc1 T C 18: 80,698,188 Y199C probably damaging Het
Olfr857 A T 9: 19,713,279 I151F probably benign Het
Olfr919 T C 9: 38,697,905 I158V probably benign Het
Phip T A 9: 82,913,871 I566F probably benign Het
Pnpla3 T A 15: 84,171,072 probably benign Het
Ptpn13 C T 5: 103,562,300 T1567I probably damaging Het
Ptpn20 A G 14: 33,638,386 probably null Het
Ptprq G T 10: 107,712,048 T163K probably damaging Het
Slc8a1 A G 17: 81,648,365 C415R probably damaging Het
Slco4c1 A G 1: 96,867,953 S127P probably damaging Het
Tcerg1l A T 7: 138,394,305 probably benign Het
Thbd C T 2: 148,406,974 V325M probably damaging Het
Trim37 G A 11: 87,177,860 R344H probably damaging Het
Ttn T C 2: 76,872,765 probably benign Het
Uvrag G A 7: 99,004,589 Q65* probably null Het
Zbtb11 T G 16: 55,990,343 V288G probably damaging Het
Other mutations in Wrap53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Wrap53 APN 11 69563591 missense probably damaging 0.99
P4748:Wrap53 UTSW 11 69562205 missense probably damaging 1.00
R0021:Wrap53 UTSW 11 69563886 missense probably damaging 0.99
R0060:Wrap53 UTSW 11 69563430 missense possibly damaging 0.88
R0682:Wrap53 UTSW 11 69562446 missense probably damaging 1.00
R1061:Wrap53 UTSW 11 69562400 missense probably damaging 1.00
R1708:Wrap53 UTSW 11 69563935 nonsense probably null
R1868:Wrap53 UTSW 11 69562164 missense probably null 0.46
R3113:Wrap53 UTSW 11 69563318 missense probably benign 0.31
R5091:Wrap53 UTSW 11 69562447 nonsense probably null
R5119:Wrap53 UTSW 11 69563932 missense possibly damaging 0.84
R6263:Wrap53 UTSW 11 69562793 nonsense probably null
R6337:Wrap53 UTSW 11 69577685 missense probably benign 0.30
R6537:Wrap53 UTSW 11 69563868 missense possibly damaging 0.49
R6628:Wrap53 UTSW 11 69562144 missense probably benign 0.00
R7111:Wrap53 UTSW 11 69562479 missense probably damaging 1.00
R7138:Wrap53 UTSW 11 69563868 missense probably benign 0.32
R7431:Wrap53 UTSW 11 69578487 missense possibly damaging 0.88
X0063:Wrap53 UTSW 11 69578537 missense probably benign
Z1088:Wrap53 UTSW 11 69578498 missense probably damaging 1.00
Posted On2013-12-03