Incidental Mutation 'R7164:Cfap206'
ID 557786
Institutional Source Beutler Lab
Gene Symbol Cfap206
Ensembl Gene ENSMUSG00000028294
Gene Name cilia and flagella associated protein 206
Synonyms 1700003M02Rik
MMRRC Submission 045331-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R7164 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 34688559-34730206 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34719656 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 253 (M253L)
Ref Sequence ENSEMBL: ENSMUSP00000103771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029971] [ENSMUST00000108136] [ENSMUST00000137514] [ENSMUST00000162495]
AlphaFold Q6PE87
Predicted Effect probably benign
Transcript: ENSMUST00000029971
AA Change: M253L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: M253L

DomainStartEndE-ValueType
Pfam:DUF3508 214 491 6.1e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108136
AA Change: M253L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: M253L

DomainStartEndE-ValueType
Pfam:DUF3508 213 493 3.8e-127 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137514
Predicted Effect probably benign
Transcript: ENSMUST00000162495
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik C A 4: 107,894,890 (GRCm38) D155E not run Het
4932415D10Rik G A 10: 82,286,229 (GRCm38) T3649I probably damaging Het
Actn2 G A 13: 12,278,961 (GRCm38) H558Y probably damaging Het
Akap9 G C 5: 4,060,364 (GRCm38) E3022D probably damaging Het
Anapc2 C T 2: 25,284,999 (GRCm38) R710C probably damaging Het
Bcl6 G A 16: 23,966,226 (GRCm38) R675* probably null Het
Carmil3 A G 14: 55,501,282 (GRCm38) E844G probably damaging Het
Cdk17 T G 10: 93,232,481 (GRCm38) S367A probably benign Het
Chd3 T G 11: 69,362,306 (GRCm38) K228Q probably damaging Het
Cit T A 5: 115,985,787 (GRCm38) I1503N possibly damaging Het
Csn1s1 A G 5: 87,674,228 (GRCm38) N119S possibly damaging Het
Degs1 A G 1: 182,279,125 (GRCm38) S226P probably damaging Het
Espl1 T C 15: 102,313,203 (GRCm38) W976R probably damaging Het
Fbxl4 C T 4: 22,386,218 (GRCm38) P275L probably benign Het
Flnb A G 14: 7,915,944 (GRCm38) probably null Het
Gm996 T A 2: 25,578,567 (GRCm38) H444L possibly damaging Het
Gnptab T A 10: 88,434,070 (GRCm38) Y878* probably null Het
Gpr89 A T 3: 96,871,398 (GRCm38) M453K probably benign Het
Igsf5 A T 16: 96,372,848 (GRCm38) Q26L possibly damaging Het
Inpp5e T A 2: 26,407,983 (GRCm38) D202V possibly damaging Het
Itga3 C T 11: 95,052,479 (GRCm38) V931M possibly damaging Het
Kcnab3 T C 11: 69,331,358 (GRCm38) probably null Het
Klk4 T C 7: 43,881,698 (GRCm38) I17T possibly damaging Het
Lrrc73 T C 17: 46,256,243 (GRCm38) L206P probably damaging Het
Manba A T 3: 135,542,388 (GRCm38) N346I probably damaging Het
Map4k4 T C 1: 39,973,972 (GRCm38) Y76H possibly damaging Het
Map4k5 T C 12: 69,830,436 (GRCm38) T312A probably benign Het
Masp2 A G 4: 148,610,115 (GRCm38) probably null Het
Mast1 T C 8: 84,935,304 (GRCm38) D63G possibly damaging Het
Mtf2 T A 5: 108,093,369 (GRCm38) S254T possibly damaging Het
Myo16 A T 8: 10,569,585 (GRCm38) T1379S unknown Het
Myo5a A G 9: 75,180,153 (GRCm38) E1097G probably benign Het
Nat1 T C 8: 67,491,677 (GRCm38) V238A possibly damaging Het
Nhlrc2 A G 19: 56,592,499 (GRCm38) D493G probably damaging Het
Olfr1165-ps T C 2: 88,101,832 (GRCm38) K52E probably damaging Het
Olfr1331 C T 4: 118,869,725 (GRCm38) P315S probably benign Het
Olfr1462 A T 19: 13,190,906 (GRCm38) M80L probably benign Het
Olfr291 A G 7: 84,857,043 (GRCm38) I227V possibly damaging Het
Olfr50 T C 2: 36,793,697 (GRCm38) S154P probably benign Het
Olfr919 A G 9: 38,698,219 (GRCm38) I49T possibly damaging Het
Pcsk5 C T 19: 17,451,985 (GRCm38) C1543Y probably damaging Het
Pde4d A G 13: 109,032,688 (GRCm38) D88G probably benign Het
Pld5 A T 1: 176,213,621 (GRCm38) M1K probably null Het
Prmt6 A G 3: 110,250,364 (GRCm38) M203T probably benign Het
Prr14l A T 5: 32,829,166 (GRCm38) V995D probably damaging Het
Psg18 T C 7: 18,350,937 (GRCm38) E199G possibly damaging Het
Pth1r A G 9: 110,723,747 (GRCm38) I439T possibly damaging Het
Ptprc T A 1: 138,117,862 (GRCm38) I87F probably benign Het
Slc44a1 T C 4: 53,528,711 (GRCm38) S154P probably benign Het
Slco1c1 T A 6: 141,542,129 (GRCm38) Y192* probably null Het
Spag16 A G 1: 70,724,866 (GRCm38) H615R possibly damaging Het
Tas2r114 G A 6: 131,689,765 (GRCm38) A100V possibly damaging Het
U2af1l4 T C 7: 30,565,119 (GRCm38) S103P probably benign Het
Usp10 T C 8: 119,942,108 (GRCm38) S383P probably damaging Het
Vmn2r113 A G 17: 22,948,163 (GRCm38) R505G probably benign Het
Vmn2r75 A C 7: 86,165,384 (GRCm38) D300E probably damaging Het
Zfp318 T A 17: 46,397,306 (GRCm38) probably null Het
Zfp318 T C 17: 46,405,939 (GRCm38) V999A probably damaging Het
Zfp324 A T 7: 12,968,883 (GRCm38) H58L probably damaging Het
Zfp707 A G 15: 75,975,118 (GRCm38) E339G possibly damaging Het
Other mutations in Cfap206
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL00798:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL00826:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL00919:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01062:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01064:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01069:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01070:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01086:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01087:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01090:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01098:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01111:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01133:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01135:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01147:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01152:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01153:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01154:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01155:Cfap206 APN 4 34,721,562 (GRCm38) missense probably damaging 1.00
IGL01289:Cfap206 APN 4 34,716,469 (GRCm38) missense probably null 0.98
IGL01845:Cfap206 APN 4 34,719,610 (GRCm38) missense possibly damaging 0.57
IGL02115:Cfap206 APN 4 34,722,623 (GRCm38) missense possibly damaging 0.54
IGL03241:Cfap206 APN 4 34,711,553 (GRCm38) missense probably damaging 1.00
IGL03405:Cfap206 APN 4 34,716,445 (GRCm38) missense possibly damaging 0.82
ANU05:Cfap206 UTSW 4 34,721,562 (GRCm38) missense probably damaging 1.00
BB001:Cfap206 UTSW 4 34,728,833 (GRCm38) missense probably benign 0.10
BB011:Cfap206 UTSW 4 34,728,833 (GRCm38) missense probably benign 0.10
R0012:Cfap206 UTSW 4 34,714,519 (GRCm38) missense possibly damaging 0.76
R0689:Cfap206 UTSW 4 34,722,668 (GRCm38) missense probably benign 0.23
R0730:Cfap206 UTSW 4 34,711,391 (GRCm38) missense probably benign
R1567:Cfap206 UTSW 4 34,716,490 (GRCm38) missense probably benign 0.01
R1694:Cfap206 UTSW 4 34,719,058 (GRCm38) missense probably damaging 1.00
R1706:Cfap206 UTSW 4 34,688,875 (GRCm38) missense probably damaging 1.00
R1837:Cfap206 UTSW 4 34,728,813 (GRCm38) missense probably damaging 1.00
R1909:Cfap206 UTSW 4 34,722,714 (GRCm38) missense probably benign
R2098:Cfap206 UTSW 4 34,719,053 (GRCm38) nonsense probably null
R2568:Cfap206 UTSW 4 34,711,566 (GRCm38) nonsense probably null
R3125:Cfap206 UTSW 4 34,716,310 (GRCm38) missense possibly damaging 0.48
R3784:Cfap206 UTSW 4 34,716,445 (GRCm38) missense probably damaging 0.99
R5249:Cfap206 UTSW 4 34,714,502 (GRCm38) missense probably benign
R5483:Cfap206 UTSW 4 34,711,404 (GRCm38) missense probably benign 0.39
R5569:Cfap206 UTSW 4 34,724,892 (GRCm38) missense probably damaging 1.00
R6247:Cfap206 UTSW 4 34,692,530 (GRCm38) missense probably benign
R6555:Cfap206 UTSW 4 34,719,049 (GRCm38) missense probably damaging 1.00
R6791:Cfap206 UTSW 4 34,711,414 (GRCm38) missense possibly damaging 0.76
R6865:Cfap206 UTSW 4 34,714,448 (GRCm38) missense possibly damaging 0.57
R7814:Cfap206 UTSW 4 34,716,347 (GRCm38) missense probably benign 0.01
R7924:Cfap206 UTSW 4 34,728,833 (GRCm38) missense probably benign 0.10
R8092:Cfap206 UTSW 4 34,728,897 (GRCm38) missense possibly damaging 0.62
R8240:Cfap206 UTSW 4 34,728,902 (GRCm38) start codon destroyed probably null 1.00
R8323:Cfap206 UTSW 4 34,719,647 (GRCm38) missense probably benign 0.00
R8969:Cfap206 UTSW 4 34,692,522 (GRCm38) missense probably benign 0.00
R9144:Cfap206 UTSW 4 34,722,667 (GRCm38) missense possibly damaging 0.81
R9336:Cfap206 UTSW 4 34,716,494 (GRCm38) missense probably benign
Z1176:Cfap206 UTSW 4 34,719,661 (GRCm38) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- GAACTTCCTGAGGTTGCCAC -3'
(R):5'- TGGGGCTACAAAAGACATTCC -3'

Sequencing Primer
(F):5'- GTTGCCACCTTTGGGAGTCAC -3'
(R):5'- AGACTCCCAGCTTCAGAT -3'
Posted On 2019-06-26