Incidental Mutation 'R8191:Cfap298'
ID 635184
Institutional Source Beutler Lab
Gene Symbol Cfap298
Ensembl Gene ENSMUSG00000022972
Gene Name cilia and flagella associate protien 298
Synonyms 1110004E09Rik
MMRRC Submission 067614-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R8191 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 90722697-90732002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90727889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 100 (N100K)
Ref Sequence ENSEMBL: ENSMUSP00000023694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023694] [ENSMUST00000125519] [ENSMUST00000142340] [ENSMUST00000149833]
AlphaFold Q8BL95
Predicted Effect probably damaging
Transcript: ENSMUST00000023694
AA Change: N100K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972
AA Change: N100K

DomainStartEndE-ValueType
Pfam:DUF2870 189 285 4.7e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125519
AA Change: N100K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000129345
SMART Domains Protein: ENSMUSP00000122163
Gene: ENSMUSG00000022972

DomainStartEndE-ValueType
Pfam:DUF2870 87 122 6.2e-17 PFAM
Pfam:DUF2870 118 151 4.8e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142340
AA Change: N56K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000149833
AA Change: N83K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123417
Gene: ENSMUSG00000022972
AA Change: N83K

DomainStartEndE-ValueType
Pfam:DUF2870 171 198 5.8e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik G A 16: 3,724,918 (GRCm39) R49W probably damaging Het
Adamts4 T C 1: 171,080,292 (GRCm39) S282P Het
Aqp4 A G 18: 15,531,222 (GRCm39) S180P probably benign Het
Armc2 T G 10: 41,839,747 (GRCm39) E406A probably benign Het
Atp13a3 A T 16: 30,168,598 (GRCm39) Y464N probably damaging Het
B3gnt3 C A 8: 72,146,122 (GRCm39) V136L probably benign Het
Cacna1s C T 1: 136,035,893 (GRCm39) H1378Y probably damaging Het
Ccnk A T 12: 108,159,933 (GRCm39) E138D probably benign Het
Cenpe A G 3: 134,957,375 (GRCm39) K1878E probably benign Het
Cep57l1 T A 10: 41,616,955 (GRCm39) I111L probably damaging Het
Copg2 T C 6: 30,790,665 (GRCm39) I509V probably benign Het
Cux2 T A 5: 122,012,217 (GRCm39) D406V probably benign Het
Cyp2a12 G T 7: 26,730,529 (GRCm39) A165S probably benign Het
Dnaaf5 T G 5: 139,167,250 (GRCm39) S719A probably benign Het
Dnah7c A G 1: 46,646,618 (GRCm39) I1220V possibly damaging Het
Dnai3 G T 3: 145,800,066 (GRCm39) P158H probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dusp10 T A 1: 183,769,749 (GRCm39) D238E possibly damaging Het
Dync1li1 C A 9: 114,538,253 (GRCm39) D203E probably benign Het
Ecpas A T 4: 58,872,587 (GRCm39) probably null Het
Eif5b T C 1: 38,075,283 (GRCm39) S587P probably damaging Het
Ephb2 G A 4: 136,386,256 (GRCm39) T832I probably damaging Het
Exoc1 T A 5: 76,707,674 (GRCm39) probably null Het
Fam193a T A 5: 34,597,917 (GRCm39) N571K probably damaging Het
Fem1a T A 17: 56,565,356 (GRCm39) I483N probably damaging Het
Fgf20 C A 8: 40,761,361 (GRCm39) probably benign Het
Fkbp1a C T 2: 151,399,356 (GRCm39) P98S Het
Gpsm3 A T 17: 34,809,451 (GRCm39) D19V probably benign Het
Ido2 C A 8: 25,023,696 (GRCm39) G381W probably damaging Het
Ifi204 T C 1: 173,579,226 (GRCm39) T540A possibly damaging Het
Isl1 A T 13: 116,441,954 (GRCm39) M93K probably benign Het
Map3k10 T A 7: 27,362,671 (GRCm39) S472C probably damaging Het
Mcrs1 A T 15: 99,141,206 (GRCm39) V432E probably damaging Het
Metap2 A G 10: 93,701,267 (GRCm39) probably null Het
Muc5b A G 7: 141,421,421 (GRCm39) S4304G probably benign Het
Myef2l G T 3: 10,153,914 (GRCm39) V228F probably damaging Het
Nell1 T C 7: 50,098,622 (GRCm39) V308A unknown Het
Or10g1b A G 14: 52,627,987 (GRCm39) V81A probably benign Het
Or4d5 A T 9: 40,012,767 (GRCm39) H6Q probably benign Het
Plxna4 C A 6: 32,493,885 (GRCm39) V244F possibly damaging Het
Pnpla6 T C 8: 3,592,382 (GRCm39) S1224P probably benign Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rnpep T C 1: 135,200,172 (GRCm39) E261G possibly damaging Het
Robo1 C A 16: 72,730,142 (GRCm39) S194R probably damaging Het
Rpusd1 C G 17: 25,947,611 (GRCm39) Y99* probably null Het
Scarf1 T C 11: 75,413,065 (GRCm39) M437T probably benign Het
Sh3tc2 G T 18: 62,106,429 (GRCm39) D153Y probably damaging Het
Siglec1 T C 2: 130,927,599 (GRCm39) Y69C probably damaging Het
Slc25a34 T C 4: 141,347,895 (GRCm39) Y262C probably damaging Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
St6galnac2 T C 11: 116,572,748 (GRCm39) Y236C probably damaging Het
Stac3 T A 10: 127,344,068 (GRCm39) I322N probably damaging Het
Tcaf1 T C 6: 42,652,190 (GRCm39) Q764R probably damaging Het
Tcf20 G A 15: 82,737,606 (GRCm39) R1282* probably null Het
Tlr2 T A 3: 83,743,821 (GRCm39) K754M probably damaging Het
Tlr2 T G 3: 83,743,822 (GRCm39) K754Q probably damaging Het
Tnn C T 1: 159,953,088 (GRCm39) V651M probably damaging Het
Ttn T C 2: 76,701,083 (GRCm39) H9622R unknown Het
Tubgcp6 C T 15: 89,004,843 (GRCm39) G259S probably damaging Het
Ubr5 C A 15: 38,006,751 (GRCm39) C1174F Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Vit C T 17: 78,853,828 (GRCm39) H25Y probably benign Het
Vmn1r177 G A 7: 23,565,736 (GRCm39) Q47* probably null Het
Vmn2r104 A T 17: 20,250,465 (GRCm39) V602D possibly damaging Het
Vmn2r115 A G 17: 23,578,530 (GRCm39) T668A probably damaging Het
Vmn2r125 T G 4: 156,703,709 (GRCm39) C362W probably damaging Het
Vwa7 A G 17: 35,238,712 (GRCm39) T267A probably damaging Het
Xpa C A 4: 46,183,225 (GRCm39) R188L possibly damaging Het
Zfp143 C T 7: 109,676,364 (GRCm39) T249I probably damaging Het
Zfp607a A G 7: 27,578,868 (GRCm39) E646G possibly damaging Het
Zfp729a A T 13: 67,769,838 (GRCm39) S130R probably benign Het
Zswim3 C A 2: 164,662,128 (GRCm39) Q203K 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
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
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'- GCGTTTCAGAGTGCAATCAAG -3'
(R):5'- TAGTGATCACAGCTGAAGGC -3'

Sequencing Primer
(F):5'- CAGAGTGCAATCAAGTCTTCAG -3'
(R):5'- TGCCCTCGACTTGTTTTTCAGAG -3'
Posted On 2020-07-13