Incidental Mutation 'R5708:Cfap299'
ID 452073
Institutional Source Beutler Lab
Gene Symbol Cfap299
Ensembl Gene ENSMUSG00000057816
Gene Name cilia and flagella associated protein 299
Synonyms 1700007G11Rik
MMRRC Submission 043333-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R5708 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 98477163-98949906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98885566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 158 (M158L)
Ref Sequence ENSEMBL: ENSMUSP00000079208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080333]
AlphaFold Q810M1
Predicted Effect probably benign
Transcript: ENSMUST00000080333
AA Change: M158L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079208
Gene: ENSMUSG00000057816
AA Change: M158L

DomainStartEndE-ValueType
Pfam:DUF4464 12 232 7.1e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196339
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik A G 8: 84,729,627 (GRCm39) K101R probably benign Het
4933430I17Rik T C 4: 62,444,106 (GRCm39) S18P probably benign Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Aox4 G T 1: 58,285,032 (GRCm39) A595S possibly damaging Het
Asxl2 T A 12: 3,550,603 (GRCm39) S782T possibly damaging Het
C1s2 A T 6: 124,602,702 (GRCm39) L503* probably null Het
C7 A G 15: 5,044,883 (GRCm39) V385A possibly damaging Het
Cdh20 T C 1: 104,912,635 (GRCm39) F630L probably damaging Het
Cdk14 A C 5: 5,316,036 (GRCm39) probably benign Het
Cdkl4 T C 17: 80,846,951 (GRCm39) I239M possibly damaging Het
Col11a1 A G 3: 113,890,743 (GRCm39) N360S unknown Het
D630003M21Rik A G 2: 158,062,312 (GRCm39) probably null Het
Dchs1 G A 7: 105,422,016 (GRCm39) P135S probably damaging Het
Dpysl2 A G 14: 67,050,595 (GRCm39) S421P probably benign Het
Edn1 A T 13: 42,457,143 (GRCm39) M59L probably benign Het
EU599041 A G 7: 42,875,311 (GRCm39) noncoding transcript Het
Furin A G 7: 80,047,603 (GRCm39) probably benign Het
Gkn2 T C 6: 87,354,418 (GRCm39) L94P probably damaging Het
Gmeb2 A T 2: 180,906,782 (GRCm39) C117S probably damaging Het
Greb1 T A 12: 16,723,843 (GRCm39) I1869F probably benign Het
Heg1 A G 16: 33,562,774 (GRCm39) E1119G probably damaging Het
Hmgcs2 T A 3: 98,198,478 (GRCm39) L127Q probably damaging Het
Insyn2a C A 7: 134,520,525 (GRCm39) V2F probably damaging Het
Kcnh6 A G 11: 105,911,082 (GRCm39) R493G probably benign Het
Kcnj11 C T 7: 45,749,242 (GRCm39) R27H probably benign Het
Klra14-ps A G 6: 130,134,751 (GRCm39) noncoding transcript Het
Lgmn A T 12: 102,370,587 (GRCm39) N114K possibly damaging Het
Lipg C T 18: 75,088,505 (GRCm39) M148I possibly damaging Het
Megf8 G T 7: 25,034,022 (GRCm39) R607L probably benign Het
Mks1 A G 11: 87,747,665 (GRCm39) T183A probably benign Het
Mllt11 A G 3: 95,127,515 (GRCm39) V85A probably benign Het
Mpo A T 11: 87,692,581 (GRCm39) probably null Het
Muc4 A T 16: 32,575,515 (GRCm39) probably benign Het
Myoz3 T C 18: 60,712,104 (GRCm39) Y158C probably damaging Het
Or11g25 A T 14: 50,723,452 (GRCm39) D179V probably damaging Het
Or4k41 A G 2: 111,280,354 (GRCm39) R290G probably damaging Het
Or5ae1 A G 7: 84,565,391 (GRCm39) I135V possibly damaging Het
Polq T A 16: 36,881,380 (GRCm39) S902R probably damaging Het
Rarb T C 14: 16,548,545 (GRCm38) T93A probably damaging Het
Rgs12 A G 5: 35,123,696 (GRCm39) D493G probably benign Het
Sec31b T A 19: 44,511,583 (GRCm39) D606V probably damaging Het
Setd2 T C 9: 110,377,891 (GRCm39) F569L possibly damaging Het
Sil1 T C 18: 35,474,170 (GRCm39) E149G probably benign Het
Spata13 T G 14: 60,929,452 (GRCm39) S337A probably damaging Het
Srfbp1 T A 18: 52,622,018 (GRCm39) L360M probably damaging Het
Tecta A T 9: 42,250,222 (GRCm39) C1852S probably damaging Het
Tgfbr3l A G 8: 4,300,360 (GRCm39) T208A probably damaging Het
Tmem38b G C 4: 53,849,051 (GRCm39) probably null Het
Tnfrsf11a T A 1: 105,741,545 (GRCm39) probably null Het
Tnik T A 3: 28,666,120 (GRCm39) probably null Het
Tsc1 A T 2: 28,555,197 (GRCm39) probably benign Het
Zfp930 T C 8: 69,679,113 (GRCm39) V41A probably benign Het
Zscan18 A T 7: 12,508,383 (GRCm39) D372E 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
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
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'- TGGCATGTGCAGTGATTCATAG -3'
(R):5'- GCAAGATGGTATCTCCCTGTG -3'

Sequencing Primer
(F):5'- CATGTGCAGTGATTCATAGCCACAG -3'
(R):5'- GTGGTTATTCCCAGATGATTCAC -3'
Posted On 2017-01-03