Incidental Mutation 'IGL02115:Cfap206'
ID280354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap206
Ensembl Gene ENSMUSG00000028294
Gene Namecilia and flagella associated protein 206
Synonyms1700003M02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.389) question?
Stock #IGL02115
Quality Score
Status
Chromosome4
Chromosomal Location34688559-34730206 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 34722623 bp
ZygosityHeterozygous
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]
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: 125,331,609 noncoding transcript Het
Abca7 A T 10: 79,998,079 N76Y probably damaging Het
Apob A G 12: 7,992,923 K755R probably benign Het
BC034090 A T 1: 155,232,651 probably benign Het
Brinp1 T C 4: 68,762,398 T632A probably benign Het
Cdcp1 C A 9: 123,185,397 C104F probably damaging Het
Chd1l A T 3: 97,589,904 probably null Het
Ckb A G 12: 111,669,981 F271L possibly damaging Het
Col6a3 T A 1: 90,807,651 I759L probably damaging Het
Ddr2 A T 1: 169,994,709 M390K probably benign Het
Dhx8 C T 11: 101,752,388 P762L probably damaging Het
Dnah3 A T 7: 120,029,054 V1449E probably damaging Het
Dzip3 T C 16: 48,948,485 I629M probably benign Het
Ep300 T C 15: 81,648,818 I1692T unknown Het
Ercc6 T A 14: 32,576,993 L1446Q probably damaging Het
Gm10092 T C 16: 36,137,623 noncoding transcript Het
Gm6900 A T 7: 10,656,576 noncoding transcript Het
Gpr149 T C 3: 62,594,915 T507A probably benign Het
Hmcn1 T A 1: 150,630,728 D3776V probably damaging Het
Irgm2 A G 11: 58,220,122 E225G probably benign Het
Kif14 T C 1: 136,496,567 probably benign Het
Klhl22 T C 16: 17,776,595 V196A probably damaging Het
Lig4 T C 8: 9,973,247 S178G possibly damaging Het
Lzts2 A G 19: 45,026,370 probably benign Het
Mcoln3 C T 3: 146,137,301 S380L probably damaging Het
Med12l A T 3: 59,068,319 T223S probably benign Het
Mrpl54 A G 10: 81,265,649 probably null Het
Myo1c A T 11: 75,661,591 I397F probably damaging Het
Nbas A T 12: 13,317,692 probably benign Het
Ncoa2 G A 1: 13,152,817 H1195Y probably damaging Het
Nol3 A G 8: 105,279,631 M171V probably benign Het
Olfr167 A T 16: 19,515,103 C178S probably damaging Het
Olfr593 A G 7: 103,212,474 T194A probably damaging Het
Pdpr C T 8: 111,103,998 L107F probably damaging Het
Ppfibp2 G A 7: 107,739,318 probably benign Het
Rusc2 T C 4: 43,426,136 probably benign Het
Sdk2 G T 11: 113,834,813 probably benign Het
Sema7a T C 9: 57,960,900 C539R probably damaging Het
Senp6 T C 9: 80,121,926 C524R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc15a1 A T 14: 121,480,661 Y269N possibly damaging Het
Synj2 T A 17: 6,017,590 Y113N probably damaging Het
Tm6sf1 A T 7: 81,875,803 Y172F probably damaging Het
Trpv4 T C 5: 114,625,029 D773G probably damaging Het
Ttc39a A G 4: 109,426,294 probably benign Het
Tut1 C T 19: 8,965,312 R588W probably damaging Het
Unc79 A T 12: 102,998,674 Y74F probably damaging Het
Usp53 A T 3: 122,947,390 I737K probably benign Het
Vmn2r67 A T 7: 85,151,579 M383K probably damaging Het
Zc3h4 A G 7: 16,425,783 D426G unknown Het
Zfp622 A G 15: 25,987,200 N308S probably damaging Het
Other mutations in Cfap206
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL00798:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL00826:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL00919:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01062:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01064:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01069:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01070:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01086:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01087:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01090:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01098:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01111:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01133:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01135:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01147:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01152:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01153:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01154:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01155:Cfap206 APN 4 34721562 missense probably damaging 1.00
IGL01289:Cfap206 APN 4 34716469 missense probably null 0.98
IGL01845:Cfap206 APN 4 34719610 missense possibly damaging 0.57
IGL03241:Cfap206 APN 4 34711553 missense probably damaging 1.00
IGL03405:Cfap206 APN 4 34716445 missense possibly damaging 0.82
ANU05:Cfap206 UTSW 4 34721562 missense probably damaging 1.00
BB001:Cfap206 UTSW 4 34728833 missense probably benign 0.10
BB011:Cfap206 UTSW 4 34728833 missense probably benign 0.10
R0012:Cfap206 UTSW 4 34714519 missense possibly damaging 0.76
R0689:Cfap206 UTSW 4 34722668 missense probably benign 0.23
R0730:Cfap206 UTSW 4 34711391 missense probably benign
R1567:Cfap206 UTSW 4 34716490 missense probably benign 0.01
R1694:Cfap206 UTSW 4 34719058 missense probably damaging 1.00
R1706:Cfap206 UTSW 4 34688875 missense probably damaging 1.00
R1837:Cfap206 UTSW 4 34728813 missense probably damaging 1.00
R1909:Cfap206 UTSW 4 34722714 missense probably benign
R2098:Cfap206 UTSW 4 34719053 nonsense probably null
R2568:Cfap206 UTSW 4 34711566 nonsense probably null
R3125:Cfap206 UTSW 4 34716310 missense possibly damaging 0.48
R3784:Cfap206 UTSW 4 34716445 missense probably damaging 0.99
R5249:Cfap206 UTSW 4 34714502 missense probably benign
R5483:Cfap206 UTSW 4 34711404 missense probably benign 0.39
R5569:Cfap206 UTSW 4 34724892 missense probably damaging 1.00
R6247:Cfap206 UTSW 4 34692530 missense probably benign
R6555:Cfap206 UTSW 4 34719049 missense probably damaging 1.00
R6791:Cfap206 UTSW 4 34711414 missense possibly damaging 0.76
R6865:Cfap206 UTSW 4 34714448 missense possibly damaging 0.57
R7164:Cfap206 UTSW 4 34719656 missense probably benign
R7814:Cfap206 UTSW 4 34716347 missense probably benign 0.01
R7924:Cfap206 UTSW 4 34728833 missense probably benign 0.10
R8092:Cfap206 UTSW 4 34728897 missense possibly damaging 0.62
R8240:Cfap206 UTSW 4 34728902 start codon destroyed probably null 1.00
R8323:Cfap206 UTSW 4 34719647 missense probably benign 0.00
Z1176:Cfap206 UTSW 4 34719661 missense possibly damaging 0.87
Posted On2015-04-16