Incidental Mutation 'IGL03405:Cfap206'
ID 421578
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 # IGL03405
Quality Score
Status
Chromosome 4
Chromosomal Location 34688559-34730206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34716445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 340 (I340T)
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: I340T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: I340T

DomainStartEndE-ValueType
Pfam:DUF3508 214 491 6.1e-108 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108136
AA Change: I340T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: I340T

DomainStartEndE-ValueType
Pfam:DUF3508 213 493 3.8e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135563
Predicted Effect probably benign
Transcript: ENSMUST00000137514
Predicted Effect probably benign
Transcript: ENSMUST00000162495
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,907,229 (GRCm39) V101A probably benign Het
Btbd3 G A 2: 138,121,681 (GRCm39) M121I probably damaging Het
Caprin1 G A 2: 103,609,850 (GRCm39) R143C probably damaging Het
Chmp6 A G 11: 119,806,273 (GRCm39) Y33C probably damaging Het
Clstn3 T C 6: 124,415,327 (GRCm39) D679G possibly damaging Het
Col24a1 G A 3: 145,020,918 (GRCm39) A430T possibly damaging Het
Commd6 A T 14: 101,874,508 (GRCm39) V28E probably damaging Het
Eno2 T A 6: 124,740,848 (GRCm39) Y236F probably benign Het
Erbb4 T C 1: 68,369,397 (GRCm39) S415G probably benign Het
Evpl A G 11: 116,118,753 (GRCm39) I648T possibly damaging Het
Fat1 T A 8: 45,478,278 (GRCm39) D2441E probably damaging Het
Fat4 T C 3: 39,012,599 (GRCm39) V2298A probably benign Het
Fbxl8 C A 8: 105,994,752 (GRCm39) T88K probably benign Het
Ganc A G 2: 120,264,247 (GRCm39) H400R probably damaging Het
Helb G A 10: 119,925,701 (GRCm39) T892I probably damaging Het
Jaml A T 9: 45,005,107 (GRCm39) K124N possibly damaging Het
Llgl2 G T 11: 115,741,668 (GRCm39) E599D probably benign Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nr2e1 G A 10: 42,444,377 (GRCm39) A244V probably damaging Het
Obscn T C 11: 58,890,950 (GRCm39) K7194R unknown Het
Or2o1 A G 11: 49,051,713 (GRCm39) probably null Het
Or5m8 A G 2: 85,822,230 (GRCm39) Q23R possibly damaging Het
Rasgrf2 A T 13: 92,044,170 (GRCm39) I961N probably damaging Het
Retreg3 T C 11: 100,991,795 (GRCm39) D46G probably damaging Het
Rtp2 A C 16: 23,746,326 (GRCm39) S122A probably benign Het
Sbf2 T A 7: 110,062,139 (GRCm39) D146V probably damaging Het
Slc39a13 A G 2: 90,893,448 (GRCm39) V324A probably damaging Het
Sptan1 A G 2: 29,915,593 (GRCm39) T2013A probably damaging Het
Tnni3k A G 3: 154,498,404 (GRCm39) probably benign Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Trpm2 G A 10: 77,801,906 (GRCm39) probably benign Het
Ttn A G 2: 76,539,276 (GRCm39) L34570P possibly damaging Het
Vmn2r100 T C 17: 19,752,186 (GRCm39) V806A probably damaging Het
Wdr70 A G 15: 8,065,352 (GRCm39) S237P possibly damaging Het
Wnk1 T C 6: 119,930,856 (GRCm39) N896S probably benign Het
Zan T A 5: 137,422,859 (GRCm39) D2718V unknown 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
IGL02115:Cfap206 APN 4 34,722,623 (GRCm39) missense possibly damaging 0.54
IGL03241:Cfap206 APN 4 34,711,553 (GRCm39) missense probably damaging 1.00
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 2016-08-02