Incidental Mutation 'IGL02956:Cfap52'
ID365140
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 #IGL02956
Quality Score
Status
Chromosome11
Chromosomal Location67924806-67965651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67954075 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 56 (E56G)
Ref Sequence ENSEMBL: ENSMUSP00000116496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021287] [ENSMUST00000126766]
Predicted Effect probably benign
Transcript: ENSMUST00000021287
AA Change: E56G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: E56G

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: E56G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: E56G

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik A G 14: 12,287,326 N29S probably benign Het
5830473C10Rik A G 5: 90,579,638 I372V possibly damaging Het
Adamts13 C T 2: 26,983,037 A339V probably benign Het
Adck2 T C 6: 39,576,502 V349A probably benign Het
Akna G T 4: 63,386,279 T546K probably benign Het
Ankrd29 T C 18: 12,260,936 K274E probably damaging Het
Apc2 A T 10: 80,306,375 N376I probably damaging Het
Cadps A G 14: 12,418,047 probably benign Het
Cbl T C 9: 44,169,034 T243A probably damaging Het
Chd5 C A 4: 152,379,956 P1561Q probably benign Het
Dscam A G 16: 96,801,272 S657P probably damaging Het
Ece1 T C 4: 137,962,838 F732L probably damaging Het
Eno2 T C 6: 124,763,119 D199G probably damaging Het
Enpp3 A G 10: 24,774,943 probably benign Het
Fbxl15 G T 19: 46,329,251 C124F probably damaging Het
Fermt3 T C 19: 7,002,344 S474G probably benign Het
Fkbp6 T C 5: 135,339,496 E252G probably damaging Het
Gm6625 A T 8: 89,147,039 noncoding transcript Het
Gnl1 T C 17: 35,987,612 I416T probably benign Het
Gp1bb C A 16: 18,620,925 A140S probably benign Het
Grin2c A G 11: 115,257,959 V271A possibly damaging Het
Heatr1 T A 13: 12,416,059 S1012T possibly damaging Het
Ighv5-6 T A 12: 113,625,903 probably benign Het
Itga10 A G 3: 96,655,113 E737G possibly damaging Het
Lmod2 A C 6: 24,603,632 N202T probably damaging Het
Lrp1 C T 10: 127,544,559 V3908I probably benign Het
Lrrtm4 T C 6: 80,021,650 V15A probably benign Het
Mup4 A T 4: 59,959,263 D77E probably benign Het
Myh7b A T 2: 155,632,903 E1787V probably damaging Het
Myh7b T A 2: 155,625,954 M804K possibly damaging Het
Nup133 T C 8: 123,949,083 S32G probably benign Het
Olfr145 A G 9: 37,898,108 K235E probably damaging Het
Olfr159 T A 4: 43,770,399 N204I probably benign Het
Olfr648 T C 7: 104,180,127 I94V probably damaging Het
Olfr77 T C 9: 19,921,052 V281A possibly damaging Het
Polr2m T C 9: 71,483,629 D97G possibly damaging Het
Pou2f3 A G 9: 43,142,805 probably benign Het
Rex1bd C A 8: 70,505,902 V72F possibly damaging Het
Rgp1 A G 4: 43,581,505 T261A possibly damaging Het
Satb2 A G 1: 56,948,175 F84L probably damaging Het
Sec14l1 G A 11: 117,153,147 D494N probably benign Het
Spn G A 7: 127,137,260 T25M probably damaging Het
Trp73 G A 4: 154,064,463 probably benign Het
Tsc22d2 A G 3: 58,417,546 T620A unknown Het
Zfp276 T C 8: 123,254,744 L10P probably damaging Het
Zfp93 T A 7: 24,274,975 N128K probably benign 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
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 On2015-12-18