Incidental Mutation 'IGL01758:Cfap52'
ID153476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap52
Ensembl Gene ENSMUSG00000020904
Gene Namecilia and flagella associated protein 52
Synonyms4933417B11Rik, Wdr16, 1700019F09Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.709) question?
Stock #IGL01758
Quality Score
Status
Chromosome11
Chromosomal Location67924806-67965651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 67953580 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 103 (L103Q)
Ref Sequence ENSEMBL: ENSMUSP00000021287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021287] [ENSMUST00000126766]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021287
AA Change: L103Q

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: L103Q

DomainStartEndE-ValueType
WD40 53 97 3.71e-1 SMART
WD40 100 141 3.45e-3 SMART
WD40 149 186 1.03e1 SMART
low complexity region 262 273 N/A INTRINSIC
WD40 280 318 9.86e1 SMART
WD40 321 360 6.6e1 SMART
WD40 363 402 8.56e0 SMART
WD40 405 445 2.27e-3 SMART
WD40 450 489 3.14e-6 SMART
WD40 492 530 9.21e0 SMART
WD40 533 573 6.19e-5 SMART
WD40 576 615 2.15e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126766
AA Change: L103Q

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: L103Q

DomainStartEndE-ValueType
WD40 53 97 3.71e-1 SMART
WD40 100 141 3.45e-3 SMART
WD40 149 186 1.03e1 SMART
Blast:WD40 190 233 4e-12 BLAST
low complexity region 262 273 N/A INTRINSIC
WD40 280 318 9.86e1 SMART
Blast:WD40 321 342 1e-6 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,010,819 D860G possibly damaging Het
Acot7 T C 4: 152,217,793 C121R probably damaging Het
Adam19 A T 11: 46,112,924 H193L probably benign Het
AI661453 T A 17: 47,466,623 probably benign Het
Bod1l T C 5: 41,826,610 probably benign Het
Brd4 T C 17: 32,212,829 probably benign Het
Capn12 G A 7: 28,886,623 probably null Het
Cdh18 A G 15: 23,474,183 Q713R probably benign Het
Dpy19l4 T A 4: 11,265,846 T475S probably damaging Het
Fat2 A T 11: 55,296,209 D1270E probably damaging Het
Hfm1 T C 5: 106,904,793 K275E probably damaging Het
Ift172 T C 5: 31,280,714 D426G probably benign Het
Mrc1 T C 2: 14,238,248 S62P probably damaging Het
Olfr275 G T 4: 52,825,468 E24* probably null Het
Olfr914 T A 9: 38,607,293 I276K probably damaging Het
Ptgs2 A T 1: 150,101,989 probably null Het
Rxfp1 T A 3: 79,652,216 I433F possibly damaging Het
Sbf1 C T 15: 89,303,215 probably benign Het
Serpinb13 T G 1: 107,000,754 F368C probably damaging Het
Slc9c1 T A 16: 45,541,461 S80R probably damaging Het
Spats2l G T 1: 57,879,556 V30L probably damaging Het
Stat1 A G 1: 52,136,921 E195G probably damaging Het
Tbx5 T A 5: 119,844,958 probably benign Het
Tmem165 A G 5: 76,204,163 T164A probably damaging Het
Trim66 A T 7: 109,486,045 probably null Het
Trip10 T A 17: 57,261,409 V405E possibly damaging Het
Vmn2r92 T A 17: 18,152,013 C28* probably null Het
Wdr60 G A 12: 116,218,798 P728L possibly damaging Het
Zbtb8a C T 4: 129,357,847 C277Y probably damaging Het
Zfp638 T C 6: 83,979,526 F1705S probably damaging Het
Other mutations in Cfap52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02034:Cfap52 APN 11 67946292 splice site probably null
IGL02530:Cfap52 APN 11 67954181 splice site probably benign
IGL02558:Cfap52 APN 11 67954138 missense probably benign 0.31
IGL02873:Cfap52 APN 11 67931782 missense probably damaging 1.00
IGL02887:Cfap52 APN 11 67953515 missense probably damaging 1.00
IGL02956:Cfap52 APN 11 67954075 missense probably benign
IGL03068:Cfap52 APN 11 67935856 missense probably benign 0.11
IGL03216:Cfap52 APN 11 67954106 missense possibly damaging 0.81
IGL03287:Cfap52 APN 11 67935976 unclassified probably benign
IGL03370:Cfap52 APN 11 67939055 missense probably damaging 0.98
chewbacca UTSW 11 67925125 missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67925125 missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67925125 missense possibly damaging 0.95
R0244:Cfap52 UTSW 11 67926382 missense possibly damaging 0.90
R0306:Cfap52 UTSW 11 67954070 missense probably benign
R0364:Cfap52 UTSW 11 67953610 missense possibly damaging 0.80
R0440:Cfap52 UTSW 11 67954088 missense probably benign
R0565:Cfap52 UTSW 11 67949599 missense probably benign 0.00
R1068:Cfap52 UTSW 11 67939004 missense probably benign 0.10
R1082:Cfap52 UTSW 11 67925172 missense probably damaging 0.99
R1509:Cfap52 UTSW 11 67938993 missense probably benign 0.00
R1894:Cfap52 UTSW 11 67953619 critical splice acceptor site probably null
R2994:Cfap52 UTSW 11 67939791 missense probably benign
R3954:Cfap52 UTSW 11 67930865 missense probably benign
R4611:Cfap52 UTSW 11 67926421 missense probably damaging 0.99
R4922:Cfap52 UTSW 11 67931722 critical splice donor site probably null
R5624:Cfap52 UTSW 11 67927358 missense possibly damaging 0.92
R5762:Cfap52 UTSW 11 67954121 missense possibly damaging 0.71
R5970:Cfap52 UTSW 11 67930744 missense probably damaging 1.00
R6037:Cfap52 UTSW 11 67946300 missense probably benign 0.00
R6037:Cfap52 UTSW 11 67946300 missense probably benign 0.00
R6260:Cfap52 UTSW 11 67938954 missense possibly damaging 0.85
R7401:Cfap52 UTSW 11 67949633 missense probably benign 0.02
R7580:Cfap52 UTSW 11 67946320 missense probably damaging 1.00
R7831:Cfap52 UTSW 11 67935956 missense possibly damaging 0.89
R7966:Cfap52 UTSW 11 67953745 splice site probably null
R8303:Cfap52 UTSW 11 67939795 missense probably benign 0.00
Posted On2014-02-04