Incidental Mutation 'R6509:Cfap299'
ID 519862
Institutional Source Beutler Lab
Gene Symbol Cfap299
Ensembl Gene ENSMUSG00000057816
Gene Name cilia and flagella associated protein 299
Synonyms 1700007G11Rik
MMRRC Submission 044422-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R6509 (G1)
Quality Score 190.009
Status Not validated
Chromosome 5
Chromosomal Location 98477163-98949906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98477256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 15 (T15I)
Ref Sequence ENSEMBL: ENSMUSP00000079208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080333]
AlphaFold Q810M1
Predicted Effect probably benign
Transcript: ENSMUST00000080333
AA Change: T15I

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000079208
Gene: ENSMUSG00000057816
AA Change: T15I

DomainStartEndE-ValueType
Pfam:DUF4464 12 232 7.1e-100 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000196339
AA Change: T9I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197812
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,250 (GRCm39) R203* probably null Het
Ccnc A G 4: 21,740,642 (GRCm39) N133D probably benign Het
Lbhd2 A G 12: 111,376,747 (GRCm39) R65G possibly damaging Het
Lrrc37a A G 11: 103,395,240 (GRCm39) S62P probably benign Het
Map3k1 T A 13: 111,890,363 (GRCm39) M1279L possibly damaging Het
Ncapg2 G A 12: 116,391,376 (GRCm39) R475Q probably damaging Het
Nlrp5 A T 7: 23,117,341 (GRCm39) N355I probably damaging Het
Or7g29 A G 9: 19,286,439 (GRCm39) V246A probably benign Het
Pdzd8 A G 19: 59,333,298 (GRCm39) F241S probably benign Het
Rgl3 A G 9: 21,883,204 (GRCm39) S705P probably benign Het
Rsbn1 A G 3: 103,867,348 (GRCm39) Y563C probably damaging Het
Septin9 A G 11: 117,181,253 (GRCm39) I18V probably benign Het
Sycp2 G A 2: 178,037,687 (GRCm39) P153S probably damaging Het
Tbc1d4 C A 14: 101,845,754 (GRCm39) R48L possibly damaging Het
Vmn1r195 G A 13: 22,463,279 (GRCm39) G250R probably benign Het
Vmn2r66 G T 7: 84,656,054 (GRCm39) P321T probably benign Het
Other mutations in Cfap299
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:Cfap299 APN 5 98,932,369 (GRCm39) missense probably benign 0.00
IGL01133:Cfap299 APN 5 98,646,240 (GRCm39) critical splice donor site probably null
IGL02151:Cfap299 APN 5 98,477,301 (GRCm39) missense probably damaging 1.00
LCD18:Cfap299 UTSW 5 98,855,367 (GRCm39) intron probably benign
PIT4514001:Cfap299 UTSW 5 98,949,730 (GRCm39) missense probably benign 0.00
R0962:Cfap299 UTSW 5 98,714,420 (GRCm39) intron probably benign
R1545:Cfap299 UTSW 5 98,477,291 (GRCm39) missense probably benign 0.25
R1886:Cfap299 UTSW 5 98,949,690 (GRCm39) missense probably benign 0.41
R1954:Cfap299 UTSW 5 98,714,612 (GRCm39) intron probably benign
R1965:Cfap299 UTSW 5 98,494,093 (GRCm39) missense probably damaging 1.00
R2008:Cfap299 UTSW 5 98,885,561 (GRCm39) missense possibly damaging 0.90
R3873:Cfap299 UTSW 5 98,885,482 (GRCm39) missense probably damaging 1.00
R4940:Cfap299 UTSW 5 98,885,495 (GRCm39) missense possibly damaging 0.95
R5708:Cfap299 UTSW 5 98,885,566 (GRCm39) missense probably benign
R6595:Cfap299 UTSW 5 98,949,717 (GRCm39) missense possibly damaging 0.78
R7009:Cfap299 UTSW 5 98,932,379 (GRCm39) missense probably damaging 0.99
R7911:Cfap299 UTSW 5 98,885,567 (GRCm39) missense possibly damaging 0.58
R8211:Cfap299 UTSW 5 98,477,294 (GRCm39) missense possibly damaging 0.77
R8317:Cfap299 UTSW 5 98,885,459 (GRCm39) missense probably benign 0.21
R9058:Cfap299 UTSW 5 98,932,400 (GRCm39) missense probably damaging 1.00
R9293:Cfap299 UTSW 5 98,646,162 (GRCm39) missense probably benign 0.13
R9505:Cfap299 UTSW 5 98,477,213 (GRCm39) start codon destroyed probably null 0.21
R9681:Cfap299 UTSW 5 98,477,214 (GRCm39) start codon destroyed probably null 0.65
Z1177:Cfap299 UTSW 5 98,949,693 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTCGGACTTTGCTAAGGC -3'
(R):5'- ACTACTTTACAGCGACCAAGTC -3'

Sequencing Primer
(F):5'- GGACTTTGCTAAGGCTTTTACAC -3'
(R):5'- AAGTCGGCCTCTGTGCAG -3'
Posted On 2018-06-06