Incidental Mutation 'R4431:Cfap300'
ID 328620
Institutional Source Beutler Lab
Gene Symbol Cfap300
Ensembl Gene ENSMUSG00000053070
Gene Name cilia and flagella associated protein 300
Synonyms 9230110C19Rik
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 8021673-8042824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8027178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 120 (V120A)
Ref Sequence ENSEMBL: ENSMUSP00000063450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065291] [ENSMUST00000215478]
AlphaFold Q8CC70
Predicted Effect probably damaging
Transcript: ENSMUST00000065291
AA Change: V120A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063450
Gene: ENSMUSG00000053070
AA Change: V120A

DomainStartEndE-ValueType
Pfam:DUF4498 14 259 8.2e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215478
Meta Mutation Damage Score 0.3620 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Cfap300
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Cfap300 APN 9 8,022,433 (GRCm39) missense probably benign 0.04
IGL00481:Cfap300 APN 9 8,042,432 (GRCm39) missense probably damaging 1.00
R0090:Cfap300 UTSW 9 8,027,184 (GRCm39) missense probably benign 0.40
R0725:Cfap300 UTSW 9 8,027,144 (GRCm39) missense probably damaging 1.00
R1455:Cfap300 UTSW 9 8,022,457 (GRCm39) missense probably benign 0.03
R1735:Cfap300 UTSW 9 8,027,266 (GRCm39) missense probably benign 0.01
R2140:Cfap300 UTSW 9 8,022,478 (GRCm39) missense probably damaging 1.00
R2966:Cfap300 UTSW 9 8,027,175 (GRCm39) missense probably damaging 1.00
R4165:Cfap300 UTSW 9 8,026,071 (GRCm39) missense probably damaging 1.00
R4166:Cfap300 UTSW 9 8,026,071 (GRCm39) missense probably damaging 1.00
R4899:Cfap300 UTSW 9 8,022,494 (GRCm39) missense possibly damaging 0.94
R7797:Cfap300 UTSW 9 8,027,130 (GRCm39) missense possibly damaging 0.91
R7979:Cfap300 UTSW 9 8,027,111 (GRCm39) missense possibly damaging 0.74
R8061:Cfap300 UTSW 9 8,042,672 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGGTAGCGTAAGAGTTTTACTC -3'
(R):5'- AGGGCTACACAGAGAAACCCTG -3'

Sequencing Primer
(F):5'- GAGTTTTACTCAGGCTCTGGG -3'
(R):5'- CAGAGAAACCCTGTCTCTCG -3'
Posted On 2015-07-21