Incidental Mutation 'IGL00775:Cfap299'
ID 12407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap299
Ensembl Gene ENSMUSG00000057816
Gene Name cilia and flagella associated protein 299
Synonyms 1700007G11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL00775
Quality Score
Status
Chromosome 5
Chromosomal Location 98477163-98949906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98932369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 190 (Y190H)
Ref Sequence ENSEMBL: ENSMUSP00000079208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080333]
AlphaFold Q810M1
Predicted Effect probably benign
Transcript: ENSMUST00000080333
AA Change: Y190H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079208
Gene: ENSMUSG00000057816
AA Change: Y190H

DomainStartEndE-ValueType
Pfam:DUF4464 12 232 7.1e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196339
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,257,524 (GRCm39) N403S possibly damaging Het
Adam32 T C 8: 25,411,370 (GRCm39) Y92C probably damaging Het
Ankfy1 G A 11: 72,619,598 (GRCm39) G157D probably benign Het
Champ1 T C 8: 13,929,509 (GRCm39) S556P probably damaging Het
Dnah8 T G 17: 30,986,880 (GRCm39) Y3176* probably null Het
Gbp8 T C 5: 105,165,711 (GRCm39) N314S probably damaging Het
Kif1c A G 11: 70,614,960 (GRCm39) probably null Het
Pcdhb22 T C 18: 37,652,795 (GRCm39) V421A probably benign Het
Plag1 A G 4: 3,904,055 (GRCm39) S379P probably damaging Het
Skint11 A T 4: 114,051,889 (GRCm39) D79V probably damaging Het
Tdp2 A G 13: 25,024,521 (GRCm39) T273A probably damaging Het
Utrn A G 10: 12,620,974 (GRCm39) probably null Het
Zscan21 C A 5: 138,131,310 (GRCm39) S99* probably null Het
Other mutations in Cfap299
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06