Incidental Mutation 'IGL01758:Cfap52'
ID 153476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap52
Ensembl Gene ENSMUSG00000020904
Gene Name cilia and flagella associated protein 52
Synonyms Wdr16, 4933417B11Rik, 1700019F09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.772) question?
Stock # IGL01758
Quality Score
Status
Chromosome 11
Chromosomal Location 67815632-67856477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67844406 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q5F201
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: 119,901,645 (GRCm39) D860G possibly damaging Het
Acot7 T C 4: 152,302,250 (GRCm39) C121R probably damaging Het
Adam19 A T 11: 46,003,751 (GRCm39) H193L probably benign Het
AI661453 T A 17: 47,777,548 (GRCm39) probably benign Het
Bod1l T C 5: 41,983,953 (GRCm39) probably benign Het
Brd4 T C 17: 32,431,803 (GRCm39) probably benign Het
Capn12 G A 7: 28,586,048 (GRCm39) probably null Het
Cdh18 A G 15: 23,474,269 (GRCm39) Q713R probably benign Het
Dpy19l4 T A 4: 11,265,846 (GRCm39) T475S probably damaging Het
Dync2i1 G A 12: 116,182,418 (GRCm39) P728L possibly damaging Het
Fat2 A T 11: 55,187,035 (GRCm39) D1270E probably damaging Het
Hfm1 T C 5: 107,052,659 (GRCm39) K275E probably damaging Het
Ift172 T C 5: 31,438,058 (GRCm39) D426G probably benign Het
Mrc1 T C 2: 14,243,059 (GRCm39) S62P probably damaging Het
Or13f5 G T 4: 52,825,468 (GRCm39) E24* probably null Het
Or8b50 T A 9: 38,518,589 (GRCm39) I276K probably damaging Het
Ptgs2 A T 1: 149,977,740 (GRCm39) probably null Het
Rxfp1 T A 3: 79,559,523 (GRCm39) I433F possibly damaging Het
Sbf1 C T 15: 89,187,418 (GRCm39) probably benign Het
Serpinb13 T G 1: 106,928,484 (GRCm39) F368C probably damaging Het
Slc9c1 T A 16: 45,361,824 (GRCm39) S80R probably damaging Het
Spats2l G T 1: 57,918,715 (GRCm39) V30L probably damaging Het
Stat1 A G 1: 52,176,080 (GRCm39) E195G probably damaging Het
Tbx5 T A 5: 119,983,023 (GRCm39) probably benign Het
Tmem165 A G 5: 76,352,010 (GRCm39) T164A probably damaging Het
Trim66 A T 7: 109,085,252 (GRCm39) probably null Het
Trip10 T A 17: 57,568,409 (GRCm39) V405E possibly damaging Het
Vmn2r92 T A 17: 18,372,275 (GRCm39) C28* probably null Het
Zbtb8a C T 4: 129,251,640 (GRCm39) C277Y probably damaging Het
Zfp638 T C 6: 83,956,508 (GRCm39) F1705S probably damaging Het
Other mutations in Cfap52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02034:Cfap52 APN 11 67,837,118 (GRCm39) splice site probably null
IGL02530:Cfap52 APN 11 67,845,007 (GRCm39) splice site probably benign
IGL02558:Cfap52 APN 11 67,844,964 (GRCm39) missense probably benign 0.31
IGL02873:Cfap52 APN 11 67,822,608 (GRCm39) missense probably damaging 1.00
IGL02887:Cfap52 APN 11 67,844,341 (GRCm39) missense probably damaging 1.00
IGL02956:Cfap52 APN 11 67,844,901 (GRCm39) missense probably benign
IGL03068:Cfap52 APN 11 67,826,682 (GRCm39) missense probably benign 0.11
IGL03216:Cfap52 APN 11 67,844,932 (GRCm39) missense possibly damaging 0.81
IGL03287:Cfap52 APN 11 67,826,802 (GRCm39) unclassified probably benign
IGL03370:Cfap52 APN 11 67,829,881 (GRCm39) missense probably damaging 0.98
chewbacca UTSW 11 67,815,951 (GRCm39) missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67,815,951 (GRCm39) missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67,815,951 (GRCm39) missense possibly damaging 0.95
R0244:Cfap52 UTSW 11 67,817,208 (GRCm39) missense possibly damaging 0.90
R0306:Cfap52 UTSW 11 67,844,896 (GRCm39) missense probably benign
R0364:Cfap52 UTSW 11 67,844,436 (GRCm39) missense possibly damaging 0.80
R0440:Cfap52 UTSW 11 67,844,914 (GRCm39) missense probably benign
R0565:Cfap52 UTSW 11 67,840,425 (GRCm39) missense probably benign 0.00
R1068:Cfap52 UTSW 11 67,829,830 (GRCm39) missense probably benign 0.10
R1082:Cfap52 UTSW 11 67,815,998 (GRCm39) missense probably damaging 0.99
R1509:Cfap52 UTSW 11 67,829,819 (GRCm39) missense probably benign 0.00
R1894:Cfap52 UTSW 11 67,844,445 (GRCm39) critical splice acceptor site probably null
R2994:Cfap52 UTSW 11 67,830,617 (GRCm39) missense probably benign
R3954:Cfap52 UTSW 11 67,821,691 (GRCm39) missense probably benign
R4611:Cfap52 UTSW 11 67,817,247 (GRCm39) missense probably damaging 0.99
R4922:Cfap52 UTSW 11 67,822,548 (GRCm39) critical splice donor site probably null
R5624:Cfap52 UTSW 11 67,818,184 (GRCm39) missense possibly damaging 0.92
R5762:Cfap52 UTSW 11 67,844,947 (GRCm39) missense possibly damaging 0.71
R5970:Cfap52 UTSW 11 67,821,570 (GRCm39) missense probably damaging 1.00
R6037:Cfap52 UTSW 11 67,837,126 (GRCm39) missense probably benign 0.00
R6037:Cfap52 UTSW 11 67,837,126 (GRCm39) missense probably benign 0.00
R6260:Cfap52 UTSW 11 67,829,780 (GRCm39) missense possibly damaging 0.85
R7401:Cfap52 UTSW 11 67,840,459 (GRCm39) missense probably benign 0.02
R7580:Cfap52 UTSW 11 67,837,146 (GRCm39) missense probably damaging 1.00
R7831:Cfap52 UTSW 11 67,826,782 (GRCm39) missense possibly damaging 0.89
R7966:Cfap52 UTSW 11 67,844,571 (GRCm39) splice site probably null
R8303:Cfap52 UTSW 11 67,830,621 (GRCm39) missense probably benign 0.00
R8998:Cfap52 UTSW 11 67,818,137 (GRCm39) missense probably damaging 1.00
R8999:Cfap52 UTSW 11 67,818,137 (GRCm39) missense probably damaging 1.00
R9074:Cfap52 UTSW 11 67,822,656 (GRCm39) missense probably benign 0.32
R9169:Cfap52 UTSW 11 67,844,860 (GRCm39) missense possibly damaging 0.67
R9394:Cfap52 UTSW 11 67,815,921 (GRCm39) makesense probably null
R9645:Cfap52 UTSW 11 67,837,179 (GRCm39) missense possibly damaging 0.68
R9683:Cfap52 UTSW 11 67,822,639 (GRCm39) missense probably benign 0.00
Posted On 2014-02-04