Incidental Mutation 'R0919:Cfap418'
ID 81578
Institutional Source Beutler Lab
Gene Symbol Cfap418
Ensembl Gene ENSMUSG00000059482
Gene Name cilia and flagella associated protein 418
Synonyms 2610301B20Rik
MMRRC Submission 039069-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R0919 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 10874498-10899425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10882462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 124 (T124A)
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: T124A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000079361
Gene: ENSMUSG00000059482
AA Change: T124A

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: T124A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000103966
Gene: ENSMUSG00000059482
AA Change: T124A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 96% (43/45)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C A 18: 65,440,544 (GRCm39) C283F probably benign Het
Anapc1 T C 2: 128,459,651 (GRCm39) R1803G probably benign Het
Anapc4 T C 5: 53,012,979 (GRCm39) V423A probably benign Het
Arfgef3 A G 10: 18,465,483 (GRCm39) I2120T possibly damaging Het
Btaf1 T A 19: 36,968,143 (GRCm39) H1109Q probably benign Het
Cfap70 G A 14: 20,454,232 (GRCm39) P851S probably benign Het
Clcf1 T A 19: 4,272,252 (GRCm39) L103Q probably damaging Het
Col11a2 T A 17: 34,278,124 (GRCm39) V1032E possibly damaging Het
Cyp2c38 T G 19: 39,393,113 (GRCm39) D318A probably benign Het
Dbpht2 A G 12: 74,345,774 (GRCm39) noncoding transcript Het
Dhx34 A C 7: 15,935,883 (GRCm39) V893G probably damaging Het
Fsip2 T A 2: 82,815,828 (GRCm39) C3854S possibly damaging Het
Htr1a T C 13: 105,581,344 (GRCm39) Y195H probably damaging Het
Insr A G 8: 3,208,769 (GRCm39) S1231P probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kpna4 A T 3: 68,993,161 (GRCm39) probably benign Het
Or52d13 A G 7: 103,110,019 (GRCm39) I132T probably damaging Het
Or52e8 A T 7: 104,624,519 (GRCm39) Y228* probably null Het
Or5m3 A G 2: 85,838,984 (GRCm39) Y288C possibly damaging Het
Osbpl7 G A 11: 96,946,927 (GRCm39) R239H possibly damaging Het
Prkce G A 17: 86,937,588 (GRCm39) V674I probably benign Het
Prkrip1 T C 5: 136,226,685 (GRCm39) M52V possibly damaging Het
Sash1 A G 10: 8,605,843 (GRCm39) M849T probably benign Het
Scaf8 T C 17: 3,247,395 (GRCm39) L906S probably damaging Het
Sfmbt2 T C 2: 10,582,382 (GRCm39) L676P probably benign Het
Sgsm1 C T 5: 113,406,708 (GRCm39) V923I probably damaging Het
Slc38a3 A T 9: 107,533,158 (GRCm39) L305Q probably damaging Het
Slc44a5 A G 3: 153,949,223 (GRCm39) Y232C probably damaging Het
Spag17 A T 3: 99,979,259 (GRCm39) probably benign Het
Synm T C 7: 67,385,095 (GRCm39) I414V probably damaging Het
Tbc1d12 C T 19: 38,902,493 (GRCm39) H551Y possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Trpc7 C T 13: 56,970,462 (GRCm39) probably benign Het
Trpm7 G A 2: 126,673,158 (GRCm39) R532C probably damaging Het
Ttn T A 2: 76,777,086 (GRCm39) K1485* probably null Het
Txn2 T C 15: 77,811,949 (GRCm39) D69G probably damaging Het
U2af2 C T 7: 5,072,433 (GRCm39) probably benign Het
Ubn1 T C 16: 4,882,255 (GRCm39) Y239H probably damaging Het
Ubtf A G 11: 102,200,603 (GRCm39) probably benign Het
Usp49 T A 17: 47,983,376 (GRCm39) V127D probably benign Het
Washc2 C T 6: 116,185,225 (GRCm39) R20W probably damaging Het
Zscan10 T C 17: 23,828,981 (GRCm39) S476P probably damaging Het
Other mutations in Cfap418
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02627:Cfap418 APN 4 10,898,039 (GRCm39) missense probably damaging 1.00
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
R6721:Cfap418 UTSW 4 10,874,744 (GRCm39) missense probably benign 0.19
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'- GAGTGTTCCTGATGCAGGTGATATCC -3'
(R):5'- CAAGTGATTCAGGCCCTCCAAGTG -3'

Sequencing Primer
(F):5'- CCTGATGCAGGTGATATCCTATAGAG -3'
(R):5'- gtagccatcatccagccc -3'
Posted On 2013-11-07