Incidental Mutation 'IGL01133:Cfap299'
ID 51166
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 # IGL01133
Quality Score
Status
Chromosome 5
Chromosomal Location 98477163-98949906 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 98646240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000079208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080333]
AlphaFold Q810M1
Predicted Effect probably null
Transcript: ENSMUST00000080333
SMART Domains Protein: ENSMUSP00000079208
Gene: ENSMUSG00000057816

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adam4 T C 12: 81,468,220 (GRCm39) T134A possibly damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cartpt T G 13: 100,036,548 (GRCm39) I67L probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ccer1 T C 10: 97,530,401 (GRCm39) F355L probably benign Het
Cert1 A G 13: 96,751,310 (GRCm39) E320G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap36 A C 11: 29,184,414 (GRCm39) V114G probably damaging Het
Cyp2b9 G A 7: 25,909,660 (GRCm39) G476D probably damaging Het
Eif3l T C 15: 78,961,120 (GRCm39) Y58H possibly damaging Het
Gapvd1 T C 2: 34,615,410 (GRCm39) Y411C probably damaging Het
Gm27029 G T 11: 101,302,786 (GRCm39) F236L possibly damaging Het
Golga1 T C 2: 38,913,484 (GRCm39) T501A probably benign Het
Heg1 C T 16: 33,547,657 (GRCm39) H815Y probably benign Het
Krt1 A T 15: 101,756,628 (GRCm39) D298E probably damaging Het
Mecr T A 4: 131,570,907 (GRCm39) S32T probably benign Het
Med1 A T 11: 98,048,812 (GRCm39) Y661* probably null Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Pla2g12b G T 10: 59,252,239 (GRCm39) A37S probably benign Het
Plekha7 G T 7: 115,744,476 (GRCm39) probably null Het
Ralgapa1 T C 12: 55,689,133 (GRCm39) I1989V probably damaging Het
Ralgapa1 T C 12: 55,689,144 (GRCm39) H1938R probably damaging Het
Sanbr A T 11: 23,545,434 (GRCm39) D486E probably damaging Het
Sec31b A G 19: 44,515,480 (GRCm39) F309S probably damaging Het
Serpina3a T C 12: 104,087,758 (GRCm39) I227T probably benign Het
Slc1a3 A G 15: 8,675,171 (GRCm39) I278T probably damaging Het
Slc1a3 T C 15: 8,680,477 (GRCm39) Y127C probably damaging Het
Spen T C 4: 141,217,212 (GRCm39) K449R unknown Het
Thoc2l A G 5: 104,665,528 (GRCm39) T17A probably benign Het
Tmem130 A G 5: 144,689,255 (GRCm39) S129P probably damaging Het
Trim68 A T 7: 102,328,348 (GRCm39) probably null Het
Vdac3-ps1 T C 13: 18,206,034 (GRCm39) noncoding transcript Het
Vmn2r75 A G 7: 85,797,240 (GRCm39) probably benign Het
Zbtb9 G T 17: 27,193,985 (GRCm39) probably benign Het
Zfp568 T A 7: 29,687,233 (GRCm39) probably null Het
Other mutations in Cfap299
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:Cfap299 APN 5 98,932,369 (GRCm39) missense probably benign 0.00
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 2013-06-21