Incidental Mutation 'IGL02607:Cfap298'
ID 300308
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap298
Ensembl Gene ENSMUSG00000022972
Gene Name cilia and flagella associate protien 298
Synonyms 1110004E09Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # IGL02607
Quality Score
Status
Chromosome 16
Chromosomal Location 90722697-90732002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90726835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 98 (T98M)
Ref Sequence ENSEMBL: ENSMUSP00000123417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023694] [ENSMUST00000125519] [ENSMUST00000142340] [ENSMUST00000149833]
AlphaFold Q8BL95
Predicted Effect probably damaging
Transcript: ENSMUST00000023694
AA Change: T115M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972
AA Change: T115M

DomainStartEndE-ValueType
Pfam:DUF2870 189 285 4.7e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125519
Predicted Effect unknown
Transcript: ENSMUST00000129345
AA Change: T12M
SMART Domains Protein: ENSMUSP00000122163
Gene: ENSMUSG00000022972
AA Change: T12M

DomainStartEndE-ValueType
Pfam:DUF2870 87 122 6.2e-17 PFAM
Pfam:DUF2870 118 151 4.8e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131583
Predicted Effect probably damaging
Transcript: ENSMUST00000142340
AA Change: T71M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000149833
AA Change: T98M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123417
Gene: ENSMUSG00000022972
AA Change: T98M

DomainStartEndE-ValueType
Pfam:DUF2870 171 198 5.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232334
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene a protein plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,546,679 (GRCm39) W307* probably null Het
Cit A G 5: 115,997,268 (GRCm39) I84V probably benign Het
Cltc T C 11: 86,597,540 (GRCm39) D1132G probably benign Het
Cobll1 A T 2: 64,981,429 (GRCm39) S54T probably damaging Het
Dcstamp A G 15: 39,617,980 (GRCm39) R130G possibly damaging Het
Dennd4a A G 9: 64,769,609 (GRCm39) M439V probably damaging Het
Dnajc15 T A 14: 78,077,656 (GRCm39) I110F probably damaging Het
Dock1 T C 7: 134,453,242 (GRCm39) F824L probably benign Het
Eml2 A G 7: 18,940,036 (GRCm39) H617R probably damaging Het
Fgd6 A T 10: 93,880,310 (GRCm39) Q388L possibly damaging Het
Fkbp4 A T 6: 128,411,433 (GRCm39) probably benign Het
Fmnl3 A T 15: 99,222,653 (GRCm39) L431Q probably damaging Het
Gng8 T C 7: 16,628,859 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,620,746 (GRCm39) I1155F possibly damaging Het
Muc4 G T 16: 32,596,193 (GRCm39) C3135F possibly damaging Het
Mycbp2 C T 14: 103,522,709 (GRCm39) G685D probably damaging Het
Or2y1d T C 11: 49,321,339 (GRCm39) F12S probably damaging Het
Pcdhb8 A T 18: 37,490,634 (GRCm39) I771F probably benign Het
Pkn2 A G 3: 142,499,862 (GRCm39) probably null Het
Rrn3 G T 16: 13,624,427 (GRCm39) V420L possibly damaging Het
Samm50 A T 15: 84,092,039 (GRCm39) Y338F probably benign Het
Slc2a7 C T 4: 150,239,162 (GRCm39) T129I probably benign Het
Tbc1d8 T C 1: 39,418,592 (GRCm39) I806V probably benign Het
Tex2 T C 11: 106,437,573 (GRCm39) E699G unknown Het
Vmn2r85 T C 10: 130,262,290 (GRCm39) K150E possibly damaging Het
Other mutations in Cfap298
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Cfap298 APN 16 90,722,936 (GRCm39) missense possibly damaging 0.60
IGL02826:Cfap298 APN 16 90,722,950 (GRCm39) missense probably benign 0.02
R0920:Cfap298 UTSW 16 90,724,267 (GRCm39) missense probably damaging 0.98
R4586:Cfap298 UTSW 16 90,724,314 (GRCm39) missense probably damaging 1.00
R5415:Cfap298 UTSW 16 90,722,953 (GRCm39) missense probably benign 0.05
R5443:Cfap298 UTSW 16 90,724,099 (GRCm39) missense probably benign
R8114:Cfap298 UTSW 16 90,731,545 (GRCm39) missense probably benign
R8191:Cfap298 UTSW 16 90,727,889 (GRCm39) missense probably damaging 0.99
R8699:Cfap298 UTSW 16 90,727,945 (GRCm39) missense probably benign 0.03
R8876:Cfap298 UTSW 16 90,724,281 (GRCm39) missense possibly damaging 0.70
R9440:Cfap298 UTSW 16 90,726,832 (GRCm39) missense probably benign 0.17
R9612:Cfap298 UTSW 16 90,724,275 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16