Incidental Mutation 'IGL02115:Cfap206'
ID 280354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap206
Ensembl Gene ENSMUSG00000028294
Gene Name cilia and flagella associated protein 206
Synonyms 1700003M02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # IGL02115
Quality Score
Status
Chromosome 4
Chromosomal Location 34688559-34730206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34722623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 153 (V153I)
Ref Sequence ENSEMBL: ENSMUSP00000103771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029971] [ENSMUST00000108136] [ENSMUST00000137514] [ENSMUST00000162495]
AlphaFold Q6PE87
Predicted Effect possibly damaging
Transcript: ENSMUST00000029971
AA Change: V153I

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: V153I

DomainStartEndE-ValueType
Pfam:DUF3508 214 491 6.1e-108 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108136
AA Change: V153I

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: V153I

DomainStartEndE-ValueType
Pfam:DUF3508 213 493 3.8e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135563
Predicted Effect probably benign
Transcript: ENSMUST00000137514
AA Change: V153I

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160209
Predicted Effect probably benign
Transcript: ENSMUST00000162495
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik A T 7: 124,930,781 (GRCm39) noncoding transcript Het
Abca7 A T 10: 79,833,913 (GRCm39) N76Y probably damaging Het
Apob A G 12: 8,042,923 (GRCm39) K755R probably benign Het
BC034090 A T 1: 155,108,397 (GRCm39) probably benign Het
Brinp1 T C 4: 68,680,635 (GRCm39) T632A probably benign Het
Cdcp1 C A 9: 123,014,462 (GRCm39) C104F probably damaging Het
Chd1l A T 3: 97,497,220 (GRCm39) probably null Het
Ckb A G 12: 111,636,415 (GRCm39) F271L possibly damaging Het
Col6a3 T A 1: 90,735,373 (GRCm39) I759L probably damaging Het
Ddr2 A T 1: 169,822,278 (GRCm39) M390K probably benign Het
Dhx8 C T 11: 101,643,214 (GRCm39) P762L probably damaging Het
Dnah3 A T 7: 119,628,277 (GRCm39) V1449E probably damaging Het
Dzip3 T C 16: 48,768,848 (GRCm39) I629M probably benign Het
Ep300 T C 15: 81,533,019 (GRCm39) I1692T unknown Het
Ercc6 T A 14: 32,298,950 (GRCm39) L1446Q probably damaging Het
Gm10092 T C 16: 35,957,993 (GRCm39) noncoding transcript Het
Gm6900 A T 7: 10,390,503 (GRCm39) noncoding transcript Het
Gpr149 T C 3: 62,502,336 (GRCm39) T507A probably benign Het
Hmcn1 T A 1: 150,506,479 (GRCm39) D3776V probably damaging Het
Irgm2 A G 11: 58,110,948 (GRCm39) E225G probably benign Het
Kif14 T C 1: 136,424,305 (GRCm39) probably benign Het
Klhl22 T C 16: 17,594,459 (GRCm39) V196A probably damaging Het
Lig4 T C 8: 10,023,247 (GRCm39) S178G possibly damaging Het
Lzts2 A G 19: 45,014,809 (GRCm39) probably benign Het
Mcoln3 C T 3: 145,843,056 (GRCm39) S380L probably damaging Het
Med12l A T 3: 58,975,740 (GRCm39) T223S probably benign Het
Mrpl54 A G 10: 81,101,483 (GRCm39) probably null Het
Myo1c A T 11: 75,552,417 (GRCm39) I397F probably damaging Het
Nbas A T 12: 13,367,693 (GRCm39) probably benign Het
Ncoa2 G A 1: 13,223,041 (GRCm39) H1195Y probably damaging Het
Nol3 A G 8: 106,006,263 (GRCm39) M171V probably benign Het
Or2l5 A T 16: 19,333,853 (GRCm39) C178S probably damaging Het
Or52s1 A G 7: 102,861,681 (GRCm39) T194A probably damaging Het
Pdpr C T 8: 111,830,630 (GRCm39) L107F probably damaging Het
Ppfibp2 G A 7: 107,338,525 (GRCm39) probably benign Het
Rusc2 T C 4: 43,426,136 (GRCm39) probably benign Het
Sdk2 G T 11: 113,725,639 (GRCm39) probably benign Het
Sema7a T C 9: 57,868,183 (GRCm39) C539R probably damaging Het
Senp6 T C 9: 80,029,208 (GRCm39) C524R probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc15a1 A T 14: 121,718,073 (GRCm39) Y269N possibly damaging Het
Synj2 T A 17: 6,067,865 (GRCm39) Y113N probably damaging Het
Tm6sf1 A T 7: 81,525,551 (GRCm39) Y172F probably damaging Het
Trpv4 T C 5: 114,763,090 (GRCm39) D773G probably damaging Het
Ttc39a A G 4: 109,283,491 (GRCm39) probably benign Het
Tut1 C T 19: 8,942,676 (GRCm39) R588W probably damaging Het
Unc79 A T 12: 102,964,933 (GRCm39) Y74F probably damaging Het
Usp53 A T 3: 122,741,039 (GRCm39) I737K probably benign Het
Vmn2r67 A T 7: 84,800,787 (GRCm39) M383K probably damaging Het
Zc3h4 A G 7: 16,159,708 (GRCm39) D426G unknown Het
Zfp622 A G 15: 25,987,286 (GRCm39) N308S probably damaging Het
Other mutations in Cfap206
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL00798:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL00826:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL00919:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01062:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01064:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01069:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01070:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01086:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01087:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01090:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01098:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01111:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01133:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01135:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01147:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01152:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01153:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01154:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01155:Cfap206 APN 4 34,721,562 (GRCm39) missense probably damaging 1.00
IGL01289:Cfap206 APN 4 34,716,469 (GRCm39) missense probably null 0.98
IGL01845:Cfap206 APN 4 34,719,610 (GRCm39) missense possibly damaging 0.57
IGL03241:Cfap206 APN 4 34,711,553 (GRCm39) missense probably damaging 1.00
IGL03405:Cfap206 APN 4 34,716,445 (GRCm39) missense possibly damaging 0.82
ANU05:Cfap206 UTSW 4 34,721,562 (GRCm39) missense probably damaging 1.00
BB001:Cfap206 UTSW 4 34,728,833 (GRCm39) missense probably benign 0.10
BB011:Cfap206 UTSW 4 34,728,833 (GRCm39) missense probably benign 0.10
R0012:Cfap206 UTSW 4 34,714,519 (GRCm39) missense possibly damaging 0.76
R0689:Cfap206 UTSW 4 34,722,668 (GRCm39) missense probably benign 0.23
R0730:Cfap206 UTSW 4 34,711,391 (GRCm39) missense probably benign
R1567:Cfap206 UTSW 4 34,716,490 (GRCm39) missense probably benign 0.01
R1694:Cfap206 UTSW 4 34,719,058 (GRCm39) missense probably damaging 1.00
R1706:Cfap206 UTSW 4 34,688,875 (GRCm39) missense probably damaging 1.00
R1837:Cfap206 UTSW 4 34,728,813 (GRCm39) missense probably damaging 1.00
R1909:Cfap206 UTSW 4 34,722,714 (GRCm39) missense probably benign
R2098:Cfap206 UTSW 4 34,719,053 (GRCm39) nonsense probably null
R2568:Cfap206 UTSW 4 34,711,566 (GRCm39) nonsense probably null
R3125:Cfap206 UTSW 4 34,716,310 (GRCm39) missense possibly damaging 0.48
R3784:Cfap206 UTSW 4 34,716,445 (GRCm39) missense probably damaging 0.99
R5249:Cfap206 UTSW 4 34,714,502 (GRCm39) missense probably benign
R5483:Cfap206 UTSW 4 34,711,404 (GRCm39) missense probably benign 0.39
R5569:Cfap206 UTSW 4 34,724,892 (GRCm39) missense probably damaging 1.00
R6247:Cfap206 UTSW 4 34,692,530 (GRCm39) missense probably benign
R6555:Cfap206 UTSW 4 34,719,049 (GRCm39) missense probably damaging 1.00
R6791:Cfap206 UTSW 4 34,711,414 (GRCm39) missense possibly damaging 0.76
R6865:Cfap206 UTSW 4 34,714,448 (GRCm39) missense possibly damaging 0.57
R7164:Cfap206 UTSW 4 34,719,656 (GRCm39) missense probably benign
R7814:Cfap206 UTSW 4 34,716,347 (GRCm39) missense probably benign 0.01
R7924:Cfap206 UTSW 4 34,728,833 (GRCm39) missense probably benign 0.10
R8092:Cfap206 UTSW 4 34,728,897 (GRCm39) missense possibly damaging 0.62
R8240:Cfap206 UTSW 4 34,728,902 (GRCm39) start codon destroyed probably null 1.00
R8323:Cfap206 UTSW 4 34,719,647 (GRCm39) missense probably benign 0.00
R8969:Cfap206 UTSW 4 34,692,522 (GRCm39) missense probably benign 0.00
R9144:Cfap206 UTSW 4 34,722,667 (GRCm39) missense possibly damaging 0.81
R9336:Cfap206 UTSW 4 34,716,494 (GRCm39) missense probably benign
Z1176:Cfap206 UTSW 4 34,719,661 (GRCm39) missense possibly damaging 0.87
Posted On 2015-04-16