Incidental Mutation 'IGL03068:Cfap52'
ID409786
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? Probably essential (E-score: 0.814) question?
Stock #IGL03068
Quality Score
Status
Chromosome11
Chromosomal Location67924806-67965651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67935856 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 381 (D381G)
Ref Sequence ENSEMBL: ENSMUSP00000021287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021287] [ENSMUST00000126766]
Predicted Effect probably benign
Transcript: ENSMUST00000021287
AA Change: D381G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: D381G

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 noncoding transcript
Transcript: ENSMUST00000123900
Predicted Effect probably benign
Transcript: ENSMUST00000126766
SMART Domains Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142929
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,417,378 L14P probably damaging Het
Ak2 G T 4: 129,008,026 probably benign Het
Appbp2 T C 11: 85,201,420 Y311C probably damaging Het
Arl9 C A 5: 77,007,378 L119I possibly damaging Het
Atp1a1 T C 3: 101,583,859 H620R probably benign Het
Cngb3 T C 4: 19,375,246 F292S possibly damaging Het
Comtd1 G A 14: 21,847,643 R203C probably damaging Het
Crmp1 G T 5: 37,265,289 A147S possibly damaging Het
Csmd3 T A 15: 47,847,121 H1586L possibly damaging Het
Ctnna1 G A 18: 35,249,732 E644K possibly damaging Het
Dock3 T C 9: 106,964,759 D957G possibly damaging Het
Ear1 G T 14: 43,819,045 S122* probably null Het
Eefsec G T 6: 88,258,227 Q576K probably benign Het
Efcab5 T A 11: 77,104,101 I1215L probably benign Het
Etfa A T 9: 55,487,482 D160E probably benign Het
Exoc7 G A 11: 116,301,134 R197C possibly damaging Het
G6pc A G 11: 101,370,750 D92G probably benign Het
Gm3182 T A 14: 4,483,921 probably null Het
Gm4952 A G 19: 12,623,704 N96S probably damaging Het
Gpr156 G A 16: 37,992,129 V276M probably damaging Het
Irs2 A G 8: 11,004,974 S1153P probably damaging Het
Kif21b T C 1: 136,158,355 probably benign Het
Lmo7 A T 14: 101,875,492 probably benign Het
Mapk4 G T 18: 73,970,344 N31K probably damaging Het
Mccc2 T C 13: 99,963,811 T357A probably damaging Het
Mpeg1 A G 19: 12,462,206 T343A probably benign Het
Myo3b G T 2: 70,426,816 probably benign Het
Pald1 T C 10: 61,321,184 E829G possibly damaging Het
Pde11a A G 2: 76,017,864 I873T probably damaging Het
Samd9l T A 6: 3,375,348 K638* probably null Het
Sema4d A G 13: 51,708,886 S479P probably damaging Het
Slc12a2 T C 18: 57,904,335 probably benign Het
Slc47a2 T C 11: 61,303,943 N470S probably damaging Het
Spag17 C T 3: 100,080,205 P1604S probably benign Het
Taf8 C A 17: 47,501,365 V39L probably damaging Het
Tlr11 A G 14: 50,361,484 E309G probably benign Het
Tmem260 A G 14: 48,486,914 probably benign Het
Tsc1 A T 2: 28,681,258 K816M probably damaging Het
Ttc29 A G 8: 78,325,551 I354V probably benign Het
Ttll3 A T 6: 113,409,197 N665Y probably damaging Het
Ubr4 A G 4: 139,409,730 T971A probably benign Het
Vmn2r96 T A 17: 18,582,875 I349N probably benign Het
Vwa5a A G 9: 38,734,847 T504A probably benign Het
Ythdf3 T A 3: 16,204,718 V354E possibly damaging Het
Zan C A 5: 137,476,415 G13V probably damaging Het
Other mutations in Cfap52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:Cfap52 APN 11 67953580 missense possibly damaging 0.67
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
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 On2016-08-02