Incidental Mutation 'IGL02826:Cfap298'
ID 361207
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 # IGL02826
Quality Score
Status
Chromosome 16
Chromosomal Location 90722697-90732002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 90722950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 261 (D261E)
Ref Sequence ENSEMBL: ENSMUSP00000023694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023694] [ENSMUST00000125519] [ENSMUST00000142340] [ENSMUST00000149833]
AlphaFold Q8BL95
Predicted Effect probably benign
Transcript: ENSMUST00000023694
AA Change: D261E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972
AA Change: D261E

DomainStartEndE-ValueType
Pfam:DUF2870 189 285 4.7e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125519
Predicted Effect probably benign
Transcript: ENSMUST00000129345
AA Change: D126E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122163
Gene: ENSMUSG00000022972
AA Change: D126E

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 benign
Transcript: ENSMUST00000142340
Predicted Effect probably benign
Transcript: ENSMUST00000149833
SMART Domains Protein: ENSMUSP00000123417
Gene: ENSMUSG00000022972

DomainStartEndE-ValueType
Pfam:DUF2870 171 198 5.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231711
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,302 (GRCm39) probably benign Het
Alk C T 17: 72,176,531 (GRCm39) G1591D probably damaging Het
Angptl2 T C 2: 33,118,327 (GRCm39) S34P probably benign Het
Atp2a2 A G 5: 122,627,354 (GRCm39) V137A probably benign Het
Atp8b5 A G 4: 43,366,770 (GRCm39) M845V probably damaging Het
Camk1d A G 2: 5,570,571 (GRCm39) V30A possibly damaging Het
Ceacam19 G A 7: 19,616,535 (GRCm39) T193I probably benign Het
Chst15 T A 7: 131,868,475 (GRCm39) D315V probably damaging Het
Cux1 G T 5: 136,336,857 (GRCm39) P885Q probably damaging Het
Cyth1 C T 11: 118,076,307 (GRCm39) E88K possibly damaging Het
Dido1 A G 2: 180,325,751 (GRCm39) V479A probably benign Het
Dlc1 G T 8: 37,037,429 (GRCm39) probably benign Het
H2-Ab1 G A 17: 34,483,885 (GRCm39) R82Q probably damaging Het
Hps6 T A 19: 45,994,480 (GRCm39) *806K probably null Het
Ilf3 T C 9: 21,309,340 (GRCm39) S486P probably benign Het
Kdm1b C A 13: 47,233,943 (GRCm39) T759K probably damaging Het
Kirrel1 C A 3: 86,995,792 (GRCm39) V381F probably damaging Het
Kmt2b A T 7: 30,276,569 (GRCm39) V1701E probably damaging Het
Lrmda T C 14: 22,878,805 (GRCm39) Y100H probably damaging Het
Mastl T C 2: 23,035,421 (GRCm39) I169V probably damaging Het
Mroh2b A G 15: 4,991,630 (GRCm39) E1576G probably damaging Het
Nek3 A T 8: 22,650,384 (GRCm39) probably null Het
Nipal3 G T 4: 135,195,861 (GRCm39) Y247* probably null Het
Nt5e A C 9: 88,237,758 (GRCm39) K229N probably damaging Het
Opa1 A G 16: 29,429,705 (GRCm39) M290V probably null Het
Or2a14 A G 6: 43,130,511 (GRCm39) I91V possibly damaging Het
Or8d6 G T 9: 39,854,254 (GRCm39) G233C probably damaging Het
Parp2 T A 14: 51,052,872 (GRCm39) I155K probably benign Het
Pde4dip G T 3: 97,674,403 (GRCm39) A171E probably damaging Het
Prom2 C T 2: 127,373,036 (GRCm39) E678K probably benign Het
Rab12 A G 17: 66,805,111 (GRCm39) probably benign Het
Rgs8 A T 1: 153,546,545 (GRCm39) T13S probably damaging Het
Setd3 A G 12: 108,078,383 (GRCm39) probably benign Het
Shisal1 A G 15: 84,304,330 (GRCm39) probably benign Het
Slx4ip G A 2: 136,846,893 (GRCm39) V53I probably damaging Het
Stil A G 4: 114,881,295 (GRCm39) D613G probably benign Het
Tektip1 A G 10: 81,200,570 (GRCm39) probably benign Het
Tjp3 T A 10: 81,109,523 (GRCm39) S858C probably damaging Het
Tmem215 A G 4: 40,474,632 (GRCm39) *236W probably null Het
Ttbk1 A G 17: 46,781,586 (GRCm39) V389A probably benign Het
Wdfy4 A G 14: 32,693,707 (GRCm39) F2706S possibly damaging Het
Xpo4 C A 14: 57,866,877 (GRCm39) V222L possibly damaging Het
Zfc3h1 A G 10: 115,236,809 (GRCm39) S428G probably benign Het
Zfp286 T C 11: 62,678,786 (GRCm39) Q47R probably damaging Het
Zfp318 A G 17: 46,709,680 (GRCm39) K468E probably damaging Het
Other mutations in Cfap298
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Cfap298 APN 16 90,722,936 (GRCm39) missense possibly damaging 0.60
IGL02607:Cfap298 APN 16 90,726,835 (GRCm39) missense probably damaging 1.00
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 2015-12-18