Incidental Mutation 'R0920:Cfap298'
ID 82835
Institutional Source Beutler Lab
Gene Symbol Cfap298
Ensembl Gene ENSMUSG00000022972
Gene Name cilia and flagella associate protien 298
Synonyms 1110004E09Rik
MMRRC Submission 039070-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R0920 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 90722697-90732002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90724267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 125 (E125K)
Ref Sequence ENSEMBL: ENSMUSP00000120107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023694] [ENSMUST00000125519] [ENSMUST00000142340] [ENSMUST00000149833]
AlphaFold Q8BL95
Predicted Effect possibly damaging
Transcript: ENSMUST00000023694
AA Change: E169K

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972
AA Change: E169K

DomainStartEndE-ValueType
Pfam:DUF2870 189 285 4.7e-47 PFAM
Predicted Effect silent
Transcript: ENSMUST00000125519
Predicted Effect unknown
Transcript: ENSMUST00000129345
AA Change: E66K
SMART Domains Protein: ENSMUSP00000122163
Gene: ENSMUSG00000022972
AA Change: E66K

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: E125K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000149833
AA Change: E152K

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123417
Gene: ENSMUSG00000022972
AA Change: E152K

DomainStartEndE-ValueType
Pfam:DUF2870 171 198 5.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232334
Meta Mutation Damage Score 0.5200 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,287,696 (GRCm39) probably benign Het
Adamts16 A G 13: 70,911,680 (GRCm39) probably benign Het
Adgra3 A G 5: 50,118,503 (GRCm39) V1015A probably benign Het
Armc5 G T 7: 127,839,491 (GRCm39) A270S probably damaging Het
Cacng1 A C 11: 107,596,682 (GRCm39) probably benign Het
Ccdc33 T C 9: 57,940,955 (GRCm39) D429G probably damaging Het
Ccdc88b G T 19: 6,824,017 (GRCm39) A1412E probably benign Het
Clock A T 5: 76,378,167 (GRCm39) S578T possibly damaging Het
Crp T C 1: 172,526,089 (GRCm39) F58S probably damaging Het
Dlg5 T A 14: 24,226,465 (GRCm39) Q125L probably damaging Het
Eif3i T C 4: 129,489,050 (GRCm39) probably benign Het
Gucy1a2 A C 9: 3,759,472 (GRCm39) D426A probably damaging Het
Hpcal1 C T 12: 17,841,098 (GRCm39) probably benign Het
Inf2 T A 12: 112,576,721 (GRCm39) probably benign Het
Kdm7a A G 6: 39,128,256 (GRCm39) L525P probably damaging Het
Kirrel3 A T 9: 34,939,648 (GRCm39) I152F probably damaging Het
Knl1 T A 2: 118,900,309 (GRCm39) I670K probably benign Het
Krt76 T C 15: 101,800,874 (GRCm39) T141A possibly damaging Het
Ldb3 T C 14: 34,289,460 (GRCm39) T249A probably benign Het
Magi3 A T 3: 103,941,507 (GRCm39) probably null Het
Mfn1 A G 3: 32,588,385 (GRCm39) probably null Het
Myb G T 10: 21,002,133 (GRCm39) T736K possibly damaging Het
Myo5b A C 18: 74,758,712 (GRCm39) K231T probably benign Het
Myt1l T A 12: 29,936,138 (GRCm39) C909S unknown Het
Npas4 C A 19: 5,036,344 (GRCm39) E607* probably null Het
Nphp3 A G 9: 103,909,106 (GRCm39) N772S probably benign Het
Nup88 G T 11: 70,847,146 (GRCm39) P288Q possibly damaging Het
Or2l13 A T 16: 19,305,680 (GRCm39) I31F probably benign Het
Pknox1 C A 17: 31,815,865 (GRCm39) Q240K probably damaging Het
Plce1 A C 19: 38,724,965 (GRCm39) T1439P probably damaging Het
Ppp1r42 T A 1: 10,069,750 (GRCm39) N104I probably damaging Het
Prkar2a T A 9: 108,596,496 (GRCm39) probably benign Het
Stox2 C T 8: 47,646,053 (GRCm39) R469Q probably damaging Het
Syna A G 5: 134,587,956 (GRCm39) V331A probably benign Het
Vmn1r58 A T 7: 5,413,788 (GRCm39) N147K probably benign Het
Zdhhc6 A T 19: 55,300,133 (GRCm39) L148H 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
IGL02826:Cfap298 APN 16 90,722,950 (GRCm39) missense probably benign 0.02
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
Predicted Primers PCR Primer
(F):5'- CTCACCTGCTGGATCTTGACGATG -3'
(R):5'- TTCTGAAGTGGACGGTAGTCACCC -3'

Sequencing Primer
(F):5'- CCCACATAGTCAGAAAGCTTCTTTG -3'
(R):5'- CTGAAAGCAGCAGCTCTTTG -3'
Posted On 2013-11-08