Incidental Mutation 'IGL02342:Wrap53'
ID289139
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? Possibly essential (E-score: 0.675) question?
Stock #IGL02342
Quality Score
Status
Chromosome11
Chromosomal Location69561758-69580255 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69563591 bp
ZygosityHeterozygous
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]
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 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

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,175,001 P97Q probably damaging Het
Abcb10 A T 8: 123,962,034 V501E probably damaging Het
Acsf3 T C 8: 122,817,498 Y572H probably benign Het
Adamts3 A T 5: 89,691,473 probably null Het
Alox8 A G 11: 69,186,227 L480P probably damaging Het
Arhgap35 G A 7: 16,562,380 T920I probably benign Het
Brca2 C A 5: 150,542,824 L2018M possibly damaging Het
Brdt C A 5: 107,342,203 H45N probably damaging Het
C1s2 A G 6: 124,632,116 F155L probably damaging Het
Ccser2 A G 14: 36,918,605 probably benign Het
Cd8a T A 6: 71,373,739 C63S probably damaging Het
Clk2 A T 3: 89,175,691 T424S probably benign Het
Cntn1 A G 15: 92,246,017 E287G probably benign Het
Cobl A C 11: 12,253,672 V928G possibly damaging Het
Col12a1 A G 9: 79,649,896 probably null Het
Crnkl1 A T 2: 145,924,713 probably null Het
Defb26 T C 2: 152,508,201 N53S possibly damaging Het
Duox1 A T 2: 122,347,312 T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 L1233P probably damaging Het
Eif5a2 A G 3: 28,793,761 E116G possibly damaging Het
Fam208a T A 14: 27,476,667 S1319T possibly damaging Het
Fam71f1 A G 6: 29,323,830 T185A possibly damaging Het
Gdap2 G A 3: 100,178,316 A185T probably damaging Het
Grm8 T C 6: 27,363,804 R571G probably benign Het
Hfe2 G A 3: 96,528,172 D249N possibly damaging Het
Hsp90b1 T C 10: 86,695,739 probably null Het
Ighv1-75 T G 12: 115,834,258 probably benign Het
Ikzf1 A G 11: 11,700,216 probably benign Het
Kdm4d A G 9: 14,463,564 W333R probably damaging Het
Lama3 A T 18: 12,491,476 N1426I probably damaging Het
Lmbrd1 A G 1: 24,704,878 Y119C probably damaging Het
Mctp1 A G 13: 77,024,857 Y884C probably damaging Het
Naip6 G T 13: 100,303,240 P340T possibly damaging Het
Nfkbib G T 7: 28,762,103 H70N probably damaging Het
Nol4 A T 18: 22,770,869 probably benign Het
Obscn C T 11: 59,001,088 A6873T probably benign Het
Olfr66 T A 7: 103,881,380 I288F probably benign Het
Olfr705 A G 7: 106,714,025 S219P probably benign Het
Olfr986 T A 9: 40,187,527 N137K probably benign Het
Paqr6 A G 3: 88,366,184 Y136C probably damaging Het
Pcdh18 T A 3: 49,756,044 D274V probably damaging Het
Phip A G 9: 82,886,692 Y1196H probably damaging Het
Prc1 T C 7: 80,309,442 L345S probably damaging Het
Smpdl3a A G 10: 57,809,180 probably benign Het
Ssfa2 A G 2: 79,660,285 N943S probably benign Het
Tac1 G T 6: 7,559,119 probably null Het
Tg A G 15: 66,764,291 T576A probably benign Het
Thbs2 A T 17: 14,676,316 D770E probably damaging Het
Tmem117 T C 15: 95,011,450 V248A possibly damaging Het
Trpm8 T C 1: 88,328,250 I209T possibly damaging Het
Ttc30a1 G T 2: 75,980,632 T369K probably benign Het
Wrap73 A T 4: 154,148,780 Q137L probably benign Het
Zfhx4 A T 3: 5,402,374 T2531S probably benign Het
Other mutations in Wrap53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Wrap53 APN 11 69562740 missense possibly damaging 0.72
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
X0063:Wrap53 UTSW 11 69578537 missense probably benign
Z1088:Wrap53 UTSW 11 69578498 missense probably damaging 1.00
Posted On2015-04-16