Incidental Mutation 'R1837:Cfap206'
ID 205378
Institutional Source Beutler Lab
Gene Symbol Cfap206
Ensembl Gene ENSMUSG00000028294
Gene Name cilia and flagella associated protein 206
Synonyms 1700003M02Rik
MMRRC Submission 039864-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R1837 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 34688559-34730206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34728813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 31 (T31A)
Ref Sequence ENSEMBL: ENSMUSP00000103771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029971] [ENSMUST00000108136] [ENSMUST00000137514] [ENSMUST00000162495]
AlphaFold Q6PE87
Predicted Effect probably damaging
Transcript: ENSMUST00000029971
AA Change: T31A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: T31A

DomainStartEndE-ValueType
Pfam:DUF3508 214 491 6.1e-108 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108136
AA Change: T31A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: T31A

DomainStartEndE-ValueType
Pfam:DUF3508 213 493 3.8e-127 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137514
AA Change: T31A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160209
Predicted Effect probably damaging
Transcript: ENSMUST00000162495
AA Change: T31A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.1850 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 99% (86/87)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 G T 2: 154,394,962 (GRCm39) G305W probably damaging Het
Actr3b A T 5: 26,030,157 (GRCm39) T74S probably benign Het
Add2 A G 6: 86,095,540 (GRCm39) E652G probably damaging Het
Alg9 T A 9: 50,717,615 (GRCm39) V83D probably damaging Het
Atp13a2 T A 4: 140,721,643 (GRCm39) Y244* probably null Het
BB014433 C G 8: 15,092,629 (GRCm39) V75L unknown Het
Bcr A G 10: 75,003,932 (GRCm39) probably benign Het
Begain G A 12: 109,001,249 (GRCm39) probably benign Het
Bzw1 A G 1: 58,439,277 (GRCm39) K67E probably damaging Het
Ccdc141 T C 2: 76,842,009 (GRCm39) E1474G probably benign Het
Cdc73 T A 1: 143,543,395 (GRCm39) T314S possibly damaging Het
Cfap58 G A 19: 48,017,578 (GRCm39) E813K probably damaging Het
Clstn2 C A 9: 97,465,593 (GRCm39) A133S probably benign Het
Col14a1 A T 15: 55,245,891 (GRCm39) D465V unknown Het
Col2a1 C T 15: 97,894,522 (GRCm39) probably benign Het
Dab2 A G 15: 6,365,957 (GRCm39) probably benign Het
Eme1 T C 11: 94,536,787 (GRCm39) D464G probably benign Het
Eml6 T C 11: 29,699,802 (GRCm39) probably null Het
Ern1 C A 11: 106,349,783 (GRCm39) L44F probably damaging Het
Fam111a T A 19: 12,564,816 (GRCm39) S188R probably benign Het
Fam151b A T 13: 92,610,639 (GRCm39) probably benign Het
Fmo6 T C 1: 162,750,379 (GRCm39) N226D probably benign Het
Ggt1 A G 10: 75,415,128 (GRCm39) D214G probably benign Het
Gm14226 A G 2: 154,866,930 (GRCm39) I296V probably benign Het
Gm9915 A T 1: 42,269,847 (GRCm39) noncoding transcript Het
Heatr5b T C 17: 79,128,180 (GRCm39) D485G possibly damaging Het
Helz2 A T 2: 180,871,082 (GRCm39) I2785N probably damaging Het
Htt C T 5: 34,976,367 (GRCm39) T723M probably benign Het
Hydin C A 8: 111,296,257 (GRCm39) H3595Q probably benign Het
Il6ra T C 3: 89,797,579 (GRCm39) D96G probably benign Het
Kif5a G A 10: 127,072,684 (GRCm39) Q702* probably null Het
Klhdc7a G T 4: 139,694,381 (GRCm39) P189T probably benign Het
Krt7 A G 15: 101,317,463 (GRCm39) D252G probably benign Het
Lad1 C A 1: 135,757,444 (GRCm39) D394E probably benign Het
Lhx8 A T 3: 154,033,692 (GRCm39) C38S possibly damaging Het
Lta4h C T 10: 93,305,037 (GRCm39) T280M probably damaging Het
Magi2 A T 5: 20,670,825 (GRCm39) T163S probably damaging Het
Med1 G T 11: 98,060,238 (GRCm39) D230E probably damaging Het
Mmp1b A T 9: 7,386,409 (GRCm39) F171I probably damaging Het
Mprip T C 11: 59,657,571 (GRCm39) V801A probably damaging Het
Mtrf1 A G 14: 79,639,273 (GRCm39) E135G possibly damaging Het
Muc5ac T A 7: 141,360,823 (GRCm39) M1378K probably benign Het
Myo3a A T 2: 22,467,604 (GRCm39) Q286L possibly damaging Het
Ndor1 C T 2: 25,138,408 (GRCm39) G391R probably damaging Het
Nefl C T 14: 68,324,075 (GRCm39) R438C probably damaging Het
Nlrp3 G A 11: 59,439,742 (GRCm39) V440I probably benign Het
Notch3 A T 17: 32,343,296 (GRCm39) L1959Q probably damaging Het
Noto A G 6: 85,401,159 (GRCm39) T63A probably benign Het
Oc90 G A 15: 65,761,529 (GRCm39) T163M probably damaging Het
Or1l4 T A 2: 37,092,114 (GRCm39) M287K probably benign Het
Or4c114 A T 2: 88,905,176 (GRCm39) Y86* probably null Het
Or5an10 A G 19: 12,275,740 (GRCm39) V252A probably damaging Het
Pdpr C A 8: 111,861,366 (GRCm39) P787T probably damaging Het
Phlda1 A G 10: 111,343,092 (GRCm39) Q276R probably benign Het
Ptpn21 T G 12: 98,699,885 (GRCm39) K10Q probably damaging Het
Ptprb A G 10: 116,177,531 (GRCm39) E1364G probably benign Het
Rabep1 T A 11: 70,795,484 (GRCm39) W237R probably damaging Het
Rai1 A T 11: 60,080,224 (GRCm39) K1429N probably damaging Het
Rapgef1 A G 2: 29,627,438 (GRCm39) I1027M probably damaging Het
Rit1 C G 3: 88,636,477 (GRCm39) T127S probably damaging Het
Rpap1 A C 2: 119,600,366 (GRCm39) probably null Het
Senp7 T A 16: 55,978,879 (GRCm39) C471S probably benign Het
Slc16a14 A G 1: 84,890,120 (GRCm39) V395A probably benign Het
Slc45a1 C T 4: 150,722,916 (GRCm39) G323S probably benign Het
Syne2 A T 12: 76,014,434 (GRCm39) E3208D probably damaging Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Ticam1 T C 17: 56,577,799 (GRCm39) E432G possibly damaging Het
Tmem192 C A 8: 65,416,992 (GRCm39) probably benign Het
Trub1 T C 19: 57,441,461 (GRCm39) V28A probably benign Het
Ttc21b A T 2: 66,028,106 (GRCm39) L1121H probably benign Het
Ttc38 A G 15: 85,735,764 (GRCm39) D290G probably damaging Het
Ulk1 C T 5: 110,937,247 (GRCm39) G683D probably damaging Het
Vmn1r122 A T 7: 20,867,291 (GRCm39) F255I probably benign Het
Vmn2r68 T A 7: 84,882,886 (GRCm39) I289F probably damaging Het
Vps39 A T 2: 120,155,878 (GRCm39) L514H probably damaging Het
Wdr48 T G 9: 119,734,482 (GRCm39) S134A probably damaging Het
Yap1 A T 9: 7,962,350 (GRCm39) Y139N probably damaging Het
Ylpm1 T C 12: 85,076,107 (GRCm39) V486A possibly damaging Het
Zbtb38 T C 9: 96,569,048 (GRCm39) T679A probably benign Het
Zfp292 A G 4: 34,810,264 (GRCm39) S927P probably damaging Het
Zfp324 C T 7: 12,704,156 (GRCm39) T115I probably benign Het
Zfp523 T A 17: 28,413,967 (GRCm39) I34N probably damaging Het
Zfp945 A T 17: 23,070,247 (GRCm39) C551S probably damaging Het
Zfp958 A G 8: 4,678,590 (GRCm39) H205R probably damaging Het
Zfp974 G A 7: 27,609,781 (GRCm39) P648L possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GCATCAGGAAAACGCCTAAG -3'
(R):5'- TCAGTAGACAGTGTGGATATTCC -3'

Sequencing Primer
(F):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- CTTCATTTAGCCACAATGCC -3'
Posted On 2014-06-23