Incidental Mutation 'R6721:Cfap418'
ID 529576
Institutional Source Beutler Lab
Gene Symbol Cfap418
Ensembl Gene ENSMUSG00000059482
Gene Name cilia and flagella associated protein 418
Synonyms 2610301B20Rik
MMRRC Submission 044839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6721 (G1)
Quality Score 195.009
Status Validated
Chromosome 4
Chromosomal Location 10874498-10899425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10874744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 44 (N44D)
Ref Sequence ENSEMBL: ENSMUSP00000103966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080517] [ENSMUST00000101504]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000080517
AA Change: N44D

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000079361
Gene: ENSMUSG00000059482
AA Change: N44D

DomainStartEndE-ValueType
low complexity region 32 42 N/A INTRINSIC
Pfam:RMP 64 209 4.2e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101504
AA Change: N44D

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103966
Gene: ENSMUSG00000059482
AA Change: N44D

DomainStartEndE-ValueType
low complexity region 32 42 N/A INTRINSIC
Pfam:RMP 64 210 1.3e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197675
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,629,634 (GRCm39) L3588S probably benign Het
Ankrd27 T C 7: 35,311,976 (GRCm39) F402S probably damaging Het
Aplp1 T C 7: 30,139,720 (GRCm39) Q359R probably null Het
Arhgef10l T C 4: 140,297,655 (GRCm39) Y546C probably damaging Het
Bltp2 T C 11: 78,170,625 (GRCm39) Y1615H probably damaging Het
Cd46 T C 1: 194,765,939 (GRCm39) Y142C probably damaging Het
Chd3 T C 11: 69,260,045 (GRCm39) probably benign Het
Cmtm2b A G 8: 105,049,077 (GRCm39) S31G possibly damaging Het
CN725425 A G 15: 91,115,821 (GRCm39) K21R possibly damaging Het
Cngb1 T C 8: 95,997,516 (GRCm39) T560A probably benign Het
Creb3l3 T C 10: 80,926,977 (GRCm39) D151G probably damaging Het
Cts7 A T 13: 61,504,108 (GRCm39) V124E probably damaging Het
Ctsd G A 7: 141,930,590 (GRCm39) P349S possibly damaging Het
Ern1 A G 11: 106,302,478 (GRCm39) W459R probably damaging Het
Faxc A T 4: 21,982,672 (GRCm39) probably null Het
Gabbr1 T C 17: 37,365,084 (GRCm39) I239T probably damaging Het
Galnt12 T A 4: 47,122,529 (GRCm39) C269* probably null Het
Gmpr2 A T 14: 55,910,191 (GRCm39) D7V probably damaging Het
Hivep3 T A 4: 119,952,296 (GRCm39) I204N possibly damaging Het
Il16 A T 7: 83,312,270 (GRCm39) probably null Het
Jag1 T C 2: 136,936,394 (GRCm39) T367A probably benign Het
Lefty2 T C 1: 180,722,166 (GRCm39) V168A probably damaging Het
Mecom T C 3: 30,034,023 (GRCm39) E227G probably damaging Het
Muc5ac T A 7: 141,352,729 (GRCm39) C739S possibly damaging Het
Npy1r T A 8: 67,156,941 (GRCm39) C120* probably null Het
Nup153 A G 13: 46,854,502 (GRCm39) V530A probably damaging Het
Ogfr T A 2: 180,237,221 (GRCm39) L602Q possibly damaging Het
Or10g7 C T 9: 39,905,603 (GRCm39) P166S possibly damaging Het
Or10h5 C T 17: 33,434,508 (GRCm39) G270E probably benign Het
Or7e178 A C 9: 20,225,576 (GRCm39) D213E probably benign Het
Perm1 G T 4: 156,302,776 (GRCm39) R440L probably benign Het
Plcb4 T C 2: 135,752,157 (GRCm39) V121A probably benign Het
Plxna4 C T 6: 32,177,794 (GRCm39) V1036M probably benign Het
Ppl A T 16: 4,925,333 (GRCm39) M102K probably damaging Het
Prop1 T C 11: 50,844,213 (GRCm39) S7G probably benign Het
Rabggta A G 14: 55,954,660 (GRCm39) L507P probably damaging Het
Sfmbt2 A G 2: 10,547,836 (GRCm39) T473A probably damaging Het
Spc25 A C 2: 69,027,517 (GRCm39) M125R possibly damaging Het
Taok3 T C 5: 117,393,928 (GRCm39) M567T probably benign Het
Tlr3 A G 8: 45,851,917 (GRCm39) Y327H probably benign Het
Tmem209 A G 6: 30,497,174 (GRCm39) F339L probably benign Het
U2surp T C 9: 95,373,157 (GRCm39) N279S probably damaging Het
Ythdf3 G A 3: 16,258,025 (GRCm39) M61I possibly damaging Het
Zfp647 T C 15: 76,796,076 (GRCm39) I195V probably benign Het
Other mutations in Cfap418
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02627:Cfap418 APN 4 10,898,039 (GRCm39) missense probably damaging 1.00
R0919:Cfap418 UTSW 4 10,882,462 (GRCm39) missense probably benign 0.01
R1695:Cfap418 UTSW 4 10,874,644 (GRCm39) missense probably damaging 1.00
R3804:Cfap418 UTSW 4 10,898,014 (GRCm39) missense probably benign 0.02
R7033:Cfap418 UTSW 4 10,898,014 (GRCm39) missense probably benign 0.02
R7409:Cfap418 UTSW 4 10,881,834 (GRCm39) missense probably benign
R8278:Cfap418 UTSW 4 10,882,474 (GRCm39) critical splice donor site probably null
R9488:Cfap418 UTSW 4 10,893,271 (GRCm39) missense probably damaging 1.00
R9622:Cfap418 UTSW 4 10,893,304 (GRCm39) missense possibly damaging 0.60
X0064:Cfap418 UTSW 4 10,881,832 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GAGAGACTGTTTGTGATCAGGC -3'
(R):5'- ATGAGAACGCTGTGGGTCTG -3'

Sequencing Primer
(F):5'- TCGCGTTGCCGTGGAAAC -3'
(R):5'- ATCCACGTCAGGTTAGGGCTG -3'
Posted On 2018-08-01