Incidental Mutation 'IGL02873:Cfap52'
ID362596
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 #IGL02873
Quality Score
Status
Chromosome11
Chromosomal Location67924806-67965651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 67931782 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 421 (T421K)
Ref Sequence ENSEMBL: ENSMUSP00000021287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021287]
Predicted Effect probably damaging
Transcript: ENSMUST00000021287
AA Change: T421K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: T421K

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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,327,040 L528P probably damaging Het
4933405O20Rik A T 7: 50,599,683 H155L probably damaging Het
5830462I19Rik G A 9: 110,374,378 probably benign Het
Ankib1 T A 5: 3,772,619 Q29L probably damaging Het
Arid5b A T 10: 68,101,950 M449K probably benign Het
Atp1a1 A G 3: 101,576,578 V1017A probably benign Het
Chd8 A T 14: 52,222,513 I780N probably damaging Het
Cubn T C 2: 13,294,370 D3164G probably benign Het
Cyp4f37 A T 17: 32,625,168 Q82L probably benign Het
Eml6 T A 11: 29,880,700 D265V probably benign Het
Gm14393 T C 2: 175,061,802 D104G possibly damaging Het
Gpat2 T C 2: 127,431,755 V271A probably benign Het
Ifna4 T C 4: 88,842,186 F109S probably damaging Het
Il27ra T C 8: 84,031,535 S529G probably benign Het
Jag2 A G 12: 112,910,502 L1011P probably benign Het
Kif7 A G 7: 79,706,759 L728P probably damaging Het
Klhl21 T C 4: 152,015,360 V509A probably benign Het
Map2k4 T A 11: 65,719,574 N92I probably damaging Het
Myo15 A T 11: 60,483,482 D1288V probably damaging Het
Olfr1002 C A 2: 85,647,752 A190S possibly damaging Het
Olfr1281 T C 2: 111,328,872 V151A probably benign Het
Paip1 T A 13: 119,445,812 F275L possibly damaging Het
Plxnd1 T C 6: 115,959,976 D1624G probably damaging Het
Ppwd1 C A 13: 104,209,753 D465Y probably damaging Het
Rftn1 A C 17: 50,169,152 probably benign Het
Scn1b T A 7: 31,117,757 Y180F probably damaging Het
Slc16a4 A G 3: 107,300,795 D207G probably benign Het
Slc2a3 T C 6: 122,740,414 T28A probably damaging Het
Slc47a1 G A 11: 61,362,817 probably benign Het
Spata1 A T 3: 146,487,367 V123D possibly damaging Het
Stard9 T C 2: 120,713,807 V4469A probably damaging Het
Trmu T A 15: 85,896,832 probably null Het
Trrap T A 5: 144,841,079 probably benign Het
Ttn T C 2: 76,896,131 probably benign Het
Tubgcp6 T C 15: 89,103,824 D974G probably benign Het
Tyw1 C T 5: 130,335,330 R621C probably benign Het
Usp7 A T 16: 8,695,194 probably benign Het
Zfp39 T C 11: 58,891,022 K305E probably benign Het
Zfp692 C T 11: 58,308,939 T118M 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
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 On2015-12-18