Incidental Mutation 'R5443:Cfap298'
ID 427300
Institutional Source Beutler Lab
Gene Symbol Cfap298
Ensembl Gene ENSMUSG00000022972
Gene Name cilia and flagella associate protien 298
Synonyms 1110004E09Rik
MMRRC Submission 043008-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R5443 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 90722697-90732002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90724099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 168 (Q168K)
Ref Sequence ENSEMBL: ENSMUSP00000123417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023694] [ENSMUST00000125519] [ENSMUST00000142340] [ENSMUST00000149833]
AlphaFold Q8BL95
Predicted Effect probably benign
Transcript: ENSMUST00000023694
AA Change: Q185K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972
AA Change: Q185K

DomainStartEndE-ValueType
Pfam:DUF2870 189 285 4.7e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125519
Predicted Effect unknown
Transcript: ENSMUST00000129345
AA Change: Q82K
SMART Domains Protein: ENSMUSP00000122163
Gene: ENSMUSG00000022972
AA Change: Q82K

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
AA Change: Q141K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000149833
AA Change: Q168K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123417
Gene: ENSMUSG00000022972
AA Change: Q168K

DomainStartEndE-ValueType
Pfam:DUF2870 171 198 5.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231711
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.9%
Validation Efficiency 99% (68/69)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A T 10: 4,305,576 (GRCm39) E795D probably damaging Het
Aldh6a1 T C 12: 84,484,745 (GRCm39) probably null Het
Aox4 A G 1: 58,273,151 (GRCm39) probably null Het
Arhgap39 G A 15: 76,682,125 (GRCm39) probably benign Het
AW551984 T C 9: 39,509,325 (GRCm39) E272G possibly damaging Het
C1qc G A 4: 136,619,804 (GRCm39) probably benign Het
Carhsp1 C A 16: 8,482,203 (GRCm39) R26L probably benign Het
Cdh12 G T 15: 21,237,935 (GRCm39) V57L probably benign Het
Clec3a A G 8: 115,144,893 (GRCm39) Y23C probably benign Het
Crebrf G C 17: 26,961,328 (GRCm39) V150L probably damaging Het
Ddx41 G T 13: 55,683,104 (GRCm39) A201E probably benign Het
Doc2b T C 11: 75,670,921 (GRCm39) K237E probably damaging Het
Dst T C 1: 34,267,620 (GRCm39) S5199P probably damaging Het
Efnb2 A G 8: 8,670,862 (GRCm39) I129T probably damaging Het
Epg5 A G 18: 78,070,712 (GRCm39) E2329G possibly damaging Het
Esrrg A C 1: 187,775,622 (GRCm39) T27P possibly damaging Het
Fah T A 7: 84,241,604 (GRCm39) R316W probably damaging Het
Fat4 T C 3: 39,064,519 (GRCm39) L4825P probably damaging Het
Gabbr1 T C 17: 37,381,648 (GRCm39) V804A probably damaging Het
Gm1322 G A 2: 67,015,012 (GRCm39) noncoding transcript Het
Gm5114 T A 7: 39,058,289 (GRCm39) K443N probably benign Het
Gnai2 T C 9: 107,497,386 (GRCm39) I3V probably damaging Het
Gp2 G A 7: 119,053,821 (GRCm39) P47S possibly damaging Het
Klf15 C A 6: 90,444,342 (GRCm39) Q306K possibly damaging Het
Ly6a2 A T 15: 75,005,568 (GRCm39) noncoding transcript Het
Maco1 A T 4: 134,560,619 (GRCm39) C121* probably null Het
Necab2 A T 8: 120,195,032 (GRCm39) M295L probably benign Het
Nrg1 A T 8: 32,339,348 (GRCm39) Y208N probably damaging Het
Nup88 A T 11: 70,849,256 (GRCm39) Y232* probably null Het
Oacyl A G 18: 65,883,253 (GRCm39) R611G probably benign Het
Oasl1 T C 5: 115,074,129 (GRCm39) probably null Het
Or2n1e T A 17: 38,585,905 (GRCm39) M81K probably damaging Het
Or2y14 G T 11: 49,405,262 (GRCm39) G266C probably damaging Het
Or52h7 T C 7: 104,213,583 (GRCm39) Y52H probably benign Het
Or8k25 A C 2: 86,243,937 (GRCm39) I153R possibly damaging Het
Pate4 A C 9: 35,519,170 (GRCm39) S66A possibly damaging Het
Pigl T A 11: 62,349,309 (GRCm39) C8* probably null Het
Plg G A 17: 12,601,070 (GRCm39) A51T probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppig A T 2: 69,564,635 (GRCm39) D97V probably damaging Het
Ppp1r16a A G 15: 76,578,846 (GRCm39) K517E possibly damaging Het
Prr16 A T 18: 51,436,225 (GRCm39) S235C probably damaging Het
Psmd1 G A 1: 86,017,905 (GRCm39) R572H probably damaging Het
Sbf2 T C 7: 109,977,135 (GRCm39) probably benign Het
Scrt2 A T 2: 151,924,043 (GRCm39) Y25F probably benign Het
Sema6d A T 2: 124,498,756 (GRCm39) H222L probably damaging Het
Septin2 A G 1: 93,425,174 (GRCm39) N110S possibly damaging Het
Shpk G A 11: 73,113,607 (GRCm39) G340D possibly damaging Het
Smg5 T A 3: 88,261,896 (GRCm39) L723H probably damaging Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Spo11 T C 2: 172,831,152 (GRCm39) probably benign Het
Srarp T A 4: 141,163,388 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Tm9sf2 A T 14: 122,363,607 (GRCm39) Y109F probably damaging Het
Tpcn2 A T 7: 144,809,209 (GRCm39) M699K possibly damaging Het
Trim34a T C 7: 103,909,420 (GRCm39) F289S possibly damaging Het
Trim39 T C 17: 36,571,645 (GRCm39) H371R probably damaging Het
Usp48 T A 4: 137,348,532 (GRCm39) I11N possibly damaging Het
Zbtb10 T C 3: 9,345,108 (GRCm39) F677L probably benign Het
Zer1 C T 2: 30,001,008 (GRCm39) G138S probably damaging Het
Zfp612 A G 8: 110,816,227 (GRCm39) K439R possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TAAAGTCCACACGGGGTCAG -3'
(R):5'- CACCATACGATCCTATCCGG -3'

Sequencing Primer
(F):5'- CACAGGGTAAGGTCCATGC -3'
(R):5'- CCGGATGGAATTTGAAAATAAAGAAG -3'
Posted On 2016-09-01