Incidental Mutation 'IGL03216:Cfap52'
ID413487
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 #IGL03216
Quality Score
Status
Chromosome11
Chromosomal Location67924806-67965651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67954106 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 46 (T46A)
Ref Sequence ENSEMBL: ENSMUSP00000021287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021287] [ENSMUST00000126766]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021287
AA Change: T46A

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: T46A

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: T46A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: T46A

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik T C 16: 38,828,690 D19G possibly damaging Het
Ano10 A T 9: 122,257,061 Y491N probably damaging Het
Cacna2d1 T C 5: 16,353,842 F709L probably damaging Het
Cadps A G 14: 12,439,944 I1196T probably damaging Het
Cage1 T C 13: 38,006,177 probably benign Het
Cep350 A T 1: 155,860,627 C2888S probably benign Het
Cyp2d26 T C 15: 82,793,261 M76V probably benign Het
Fam208b C T 13: 3,574,553 C1799Y probably damaging Het
Fermt3 A T 19: 6,999,380 D653E probably benign Het
Foxj3 A G 4: 119,609,983 probably benign Het
Gm21985 T A 2: 112,266,936 S39T probably damaging Het
Herc1 A T 9: 66,478,946 D3727V probably benign Het
Ifi208 A T 1: 173,678,941 T97S possibly damaging Het
Iqgap1 T C 7: 80,743,088 E709G probably benign Het
Itgb5 T A 16: 33,902,838 H361Q probably benign Het
Mr1 T A 1: 155,129,289 N335I possibly damaging Het
Nadsyn1 A T 7: 143,797,845 F684I probably damaging Het
Nf1 A T 11: 79,564,895 I2544F probably benign Het
Olfr786 A G 10: 129,436,937 T42A probably damaging Het
Pnp2 T G 14: 50,963,197 S107A probably benign Het
Pomt1 A G 2: 32,242,943 I184V probably damaging Het
Slc6a19 T G 13: 73,686,181 M301L probably benign Het
Smarca5 T C 8: 80,719,658 Y471C probably damaging Het
Syne2 A T 12: 75,942,961 probably benign Het
Trmt6 T C 2: 132,808,698 N330S probably null Het
Tsc22d1 T C 14: 76,418,637 V770A probably benign Het
Ttll6 A G 11: 96,152,014 D462G probably benign Het
Ttn T C 2: 76,945,049 H1883R probably damaging Het
Ubxn10 C T 4: 138,720,739 V209M probably damaging Het
Urb1 T C 16: 90,788,114 T540A probably benign Het
Vmn2r17 A T 5: 109,452,890 R685W probably damaging Het
Vps4a C T 8: 107,036,703 R30C probably damaging Het
Xpo6 A G 7: 126,104,813 V1055A probably damaging Het
Zfp445 C T 9: 122,851,978 C966Y 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
IGL03068:Cfap52 APN 11 67935856 missense probably benign 0.11
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