Incidental Mutation 'IGL01069:Cfap206'
ID 278146
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 # IGL01069
Quality Score
Status
Chromosome 4
Chromosomal Location 34688559-34730206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34721562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 162 (S162N)
Ref Sequence ENSEMBL: ENSMUSP00000116947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029971] [ENSMUST00000108136] [ENSMUST00000137514] [ENSMUST00000162495]
AlphaFold Q6PE87
Predicted Effect probably damaging
Transcript: ENSMUST00000029971
AA Change: S162N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: S162N

DomainStartEndE-ValueType
Pfam:DUF3508 214 491 6.1e-108 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108136
AA Change: S162N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: S162N

DomainStartEndE-ValueType
Pfam:DUF3508 213 493 3.8e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135563
Predicted Effect probably damaging
Transcript: ENSMUST00000137514
AA Change: S162N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null 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
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
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