Incidental Mutation 'R9505:Cfap299'
ID 717767
Institutional Source Beutler Lab
Gene Symbol Cfap299
Ensembl Gene ENSMUSG00000057816
Gene Name cilia and flagella associated protein 299
Synonyms 1700007G11Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R9505 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 98477163-98949906 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 98477213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000079208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080333]
AlphaFold Q810M1
Predicted Effect probably null
Transcript: ENSMUST00000080333
AA Change: M1V

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079208
Gene: ENSMUSG00000057816
AA Change: M1V

DomainStartEndE-ValueType
Pfam:DUF4464 12 232 7.1e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196339
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,185,782 (GRCm39) probably benign Het
Adamts17 A C 7: 66,774,683 (GRCm39) N961T probably benign Het
Adamts3 G A 5: 89,855,751 (GRCm39) T373I probably damaging Het
Bcan G A 3: 87,900,748 (GRCm39) P495L probably benign Het
Bicd1 A C 6: 149,385,522 (GRCm39) E85A probably benign Het
Brca1 G T 11: 101,403,592 (GRCm39) H1437N probably benign Het
Camk2n1 T C 4: 138,182,567 (GRCm39) I24T possibly damaging Het
Ces2f T A 8: 105,676,669 (GRCm39) M121K probably benign Het
CN725425 T A 15: 91,124,867 (GRCm39) Y136N possibly damaging Het
Ctla2a T A 13: 61,084,342 (GRCm39) M2L unknown Het
Cyp3a57 A T 5: 145,286,139 (GRCm39) Y25F probably benign Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Dnah3 A T 7: 119,644,912 (GRCm39) I1123N probably damaging Het
Fcgbpl1 A T 7: 27,841,909 (GRCm39) K615* probably null Het
Fkbp10 G T 11: 100,306,826 (GRCm39) E73* probably null Het
Flnb C A 14: 7,904,665 (GRCm38) H1023N probably benign Het
Gapvd1 T A 2: 34,613,026 (GRCm39) Q312H Het
Garre1 A T 7: 33,984,371 (GRCm39) L84Q probably damaging Het
Htr1d A T 4: 136,170,889 (GRCm39) I373F probably benign Het
Inhba G A 13: 16,201,356 (GRCm39) R306H probably damaging Het
Inka1 T A 9: 107,862,092 (GRCm39) K75* probably null Het
Iqcg A T 16: 32,861,247 (GRCm39) D156E probably benign Het
Ireb2 C A 9: 54,813,921 (GRCm39) T798K probably damaging Het
Klk1b8 G A 7: 43,451,605 (GRCm39) A199T probably damaging Het
Lgi2 T C 5: 52,711,775 (GRCm39) T182A probably benign Het
Ltbp2 C A 12: 84,900,638 (GRCm39) R228L probably damaging Het
Lyrm1 A G 7: 119,509,090 (GRCm39) K22E possibly damaging Het
Mybbp1a A G 11: 72,339,897 (GRCm39) D967G probably benign Het
Nr6a1 C T 2: 38,630,485 (GRCm39) R259Q probably benign Het
Or4e2 A G 14: 52,687,929 (GRCm39) N20D probably benign Het
Or51aa5 T C 7: 103,167,446 (GRCm39) I48M probably benign Het
Or51i1 C A 7: 103,670,698 (GRCm39) V276F probably damaging Het
Pak5 A T 2: 135,958,812 (GRCm39) I92N probably damaging Het
Pcdhb5 T A 18: 37,454,664 (GRCm39) I348K possibly damaging Het
Phf2 C T 13: 48,957,134 (GRCm39) A1078T probably damaging Het
Rnf103 T C 6: 71,487,049 (GRCm39) V560A probably benign Het
Slc27a4 A G 2: 29,701,608 (GRCm39) I409V probably benign Het
Spata18 T A 5: 73,809,017 (GRCm39) probably null Het
Spon1 A G 7: 113,632,311 (GRCm39) T545A probably damaging Het
Stab1 A G 14: 30,877,722 (GRCm39) S772P probably damaging Het
Stox2 A T 8: 47,645,304 (GRCm39) S719T probably benign Het
Syne1 A G 10: 4,980,394 (GRCm39) V864A probably benign Het
Syngap1 A G 17: 27,180,579 (GRCm39) S836G probably benign Het
Tiparp G T 3: 65,439,577 (GRCm39) E298* probably null Het
Tmem52 A G 4: 155,554,615 (GRCm39) T114A probably damaging Het
Trim36 C A 18: 46,329,281 (GRCm39) C53F probably damaging Het
Ttn T C 2: 76,720,811 (GRCm39) K6871R unknown Het
Ttn C A 2: 76,715,468 (GRCm39) probably null Het
Ube2d1 T C 10: 71,098,094 (GRCm39) probably null Het
Unc13c T C 9: 73,838,824 (GRCm39) T676A probably benign Het
Vinac1 A T 2: 128,878,838 (GRCm39) D1029E unknown Het
Vps13a A T 19: 16,719,908 (GRCm39) Y417N possibly damaging Het
Zfp729a C T 13: 67,767,673 (GRCm39) C852Y probably damaging 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
R6509:Cfap299 UTSW 5 98,477,256 (GRCm39) missense probably benign 0.16
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
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'- CACCTTCGGACTTTGCTAAGG -3'
(R):5'- AAGTCTCTCGAAGCCAGAGG -3'

Sequencing Primer
(F):5'- GGACTTTGCTAAGGCTTTTACAC -3'
(R):5'- CAGAGGCCTGCGGTGAG -3'
Posted On 2022-07-18