Incidental Mutation 'IGL01147:Cfap206'
ID 278215
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 # IGL01147
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,234,611 (GRCm39) probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cdh1 C A 8: 107,387,516 (GRCm39) T472K probably damaging Het
Cfap57 A T 4: 118,446,198 (GRCm39) V688E probably damaging Het
Cfp G A X: 20,794,981 (GRCm39) R155C probably damaging Het
Chst7 T C X: 19,926,991 (GRCm39) I346T probably damaging Het
Crybg2 G A 4: 133,816,575 (GRCm39) probably null Het
Ctsc T A 7: 87,951,479 (GRCm39) V242D possibly damaging Het
Cyp27b1 C T 10: 126,886,255 (GRCm39) T312I possibly damaging Het
D6Wsu163e A G 6: 126,921,815 (GRCm39) D80G possibly damaging Het
Enpp3 G T 10: 24,650,805 (GRCm39) T777K probably damaging Het
H2-M1 T A 17: 36,982,199 (GRCm39) H134L possibly damaging Het
Heatr1 T C 13: 12,452,793 (GRCm39) S2105P probably damaging Het
Herc2 T C 7: 55,806,697 (GRCm39) S2388P probably benign Het
Igkv6-23 A G 6: 70,237,922 (GRCm39) probably benign Het
Il1rapl2 C T X: 137,121,325 (GRCm39) probably benign Het
Itpka T C 2: 119,573,254 (GRCm39) L132P probably benign Het
Jak3 T C 8: 72,136,047 (GRCm39) S616P probably benign Het
Kcnj11 T C 7: 45,748,193 (GRCm39) K377E probably benign Het
Map4k3 A T 17: 80,944,147 (GRCm39) probably null Het
Parp1 T C 1: 180,417,145 (GRCm39) I643T probably damaging Het
Phf3 T C 1: 30,843,250 (GRCm39) D1903G probably damaging Het
Picalm G T 7: 89,826,800 (GRCm39) S416I probably benign Het
Pkn2 T C 3: 142,534,770 (GRCm39) N285S probably benign Het
Sh3gl2 A C 4: 85,265,433 (GRCm39) probably benign Het
Smpd1 C A 7: 105,204,943 (GRCm39) T274K probably damaging Het
Snap91 G A 9: 86,680,611 (GRCm39) T424M probably benign Het
Sox13 T A 1: 133,320,873 (GRCm39) T46S probably benign Het
Syne1 G A 10: 5,002,691 (GRCm39) Q8075* probably null Het
Trio T C 15: 27,881,406 (GRCm39) E555G probably damaging Het
Upf3b T C X: 36,360,586 (GRCm39) E298G probably damaging Het
Vmn1r158 A G 7: 22,490,204 (GRCm39) S2P probably benign Het
Vmn1r6 T A 6: 56,979,626 (GRCm39) L74H probably damaging Het
Vwa2 T C 19: 56,890,066 (GRCm39) S224P probably damaging Het
Wbp1l T A 19: 46,632,808 (GRCm39) V36E probably damaging Het
Zfp367 A G 13: 64,283,253 (GRCm39) S300P 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
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