Incidental Mutation 'R5415:Cfap298'
ID 427703
Institutional Source Beutler Lab
Gene Symbol Cfap298
Ensembl Gene ENSMUSG00000022972
Gene Name cilia and flagella associate protien 298
Synonyms 1110004E09Rik
MMRRC Submission 042984-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R5415 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 90722697-90732002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90722953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 260 (D260E)
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: D260E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972
AA Change: D260E

DomainStartEndE-ValueType
Pfam:DUF2870 189 285 4.7e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125519
Predicted Effect unknown
Transcript: ENSMUST00000129345
AA Change: D125E
SMART Domains Protein: ENSMUSP00000122163
Gene: ENSMUSG00000022972
AA Change: D125E

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: ENSMUST00000231711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232334
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef18 G A 8: 3,438,075 (GRCm39) R303H probably damaging Het
Ark2c C A 18: 77,554,435 (GRCm39) V60L probably damaging Het
Asb15 A T 6: 24,570,690 (GRCm39) Q556L probably benign Het
Ccr1 G T 9: 123,764,413 (GRCm39) P39H probably damaging Het
Cd177 A T 7: 24,451,816 (GRCm39) L400Q probably damaging Het
Cideb T C 14: 55,995,312 (GRCm39) E58G probably damaging Het
Drd2 A G 9: 49,313,553 (GRCm39) K241E possibly damaging Het
Ect2 C T 3: 27,201,002 (GRCm39) C126Y probably damaging Het
Eef1d T C 15: 75,775,030 (GRCm39) T210A probably benign Het
Enpp2 G A 15: 54,745,552 (GRCm39) H315Y probably damaging Het
Ero1b A T 13: 12,616,656 (GRCm39) M362L probably benign Het
Exosc2 A G 2: 31,562,578 (GRCm39) K73E possibly damaging Het
Gm9637 T A 14: 19,402,143 (GRCm38) noncoding transcript Het
Gstm5 A G 3: 107,804,811 (GRCm39) D101G probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kmt2c T C 5: 25,519,699 (GRCm39) D2137G probably benign Het
Mecom T C 3: 30,011,675 (GRCm39) D619G possibly damaging Het
Met A G 6: 17,527,084 (GRCm39) I512V probably benign Het
Myh15 A G 16: 48,937,658 (GRCm39) K753R probably null Het
Nfatc4 A G 14: 56,070,091 (GRCm39) D753G probably benign Het
Or2l5 T A 16: 19,333,996 (GRCm39) H130L possibly damaging Het
Or4c113 T A 2: 88,885,240 (GRCm39) T177S probably benign Het
Or4c12 T A 2: 89,773,731 (GRCm39) T243S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp9 C T 16: 35,763,752 (GRCm39) A10V probably damaging Het
Pcdh8 C A 14: 80,007,688 (GRCm39) E292* probably null Het
Pdpn A T 4: 142,995,788 (GRCm39) V161D probably damaging Het
Peg3 A G 7: 6,711,628 (GRCm39) V1198A probably benign Het
Phykpl T C 11: 51,476,342 (GRCm39) S21P probably benign Het
Plcb1 G T 2: 135,189,322 (GRCm39) V817F possibly damaging Het
Polk T C 13: 96,620,463 (GRCm39) Y579C probably benign Het
Ppp1r18 A G 17: 36,178,511 (GRCm39) N129D probably benign Het
Psg29 C A 7: 16,945,561 (GRCm39) probably null Het
Rims4 C T 2: 163,760,596 (GRCm39) R3H probably benign Het
Rps6kl1 A T 12: 85,186,155 (GRCm39) C292S probably benign Het
Uaca G T 9: 60,777,421 (GRCm39) G603C possibly damaging Het
Vmn1r60 T C 7: 5,547,416 (GRCm39) H228R probably benign Het
Vmn2r7 T C 3: 64,623,658 (GRCm39) T221A probably benign Het
Zfp647 C A 15: 76,795,593 (GRCm39) V356L 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
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
Predicted Primers PCR Primer
(F):5'- GTGACACAGCTGTCCTAAAAC -3'
(R):5'- ATCCATCCACACAGTGCTG -3'

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