Incidental Mutation 'R9488:Cfap418'
ID 716739
Institutional Source Beutler Lab
Gene Symbol Cfap418
Ensembl Gene ENSMUSG00000059482
Gene Name cilia and flagella associated protein 418
Synonyms 2610301B20Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R9488 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 10874498-10899425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10893271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 130 (D130G)
Ref Sequence ENSEMBL: ENSMUSP00000079361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080517] [ENSMUST00000101504]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080517
AA Change: D130G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079361
Gene: ENSMUSG00000059482
AA Change: D130G

DomainStartEndE-ValueType
low complexity region 32 42 N/A INTRINSIC
Pfam:RMP 64 209 4.2e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101504
AA Change: D130G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103966
Gene: ENSMUSG00000059482
AA Change: D130G

DomainStartEndE-ValueType
low complexity region 32 42 N/A INTRINSIC
Pfam:RMP 64 210 1.3e-59 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,643,212 (GRCm39) I294L probably benign Het
Ankrd35 A T 3: 96,589,343 (GRCm39) K187N probably damaging Het
Arhgap40 C T 2: 158,391,571 (GRCm39) T631M possibly damaging Het
Arpin T C 7: 79,584,979 (GRCm39) Y5C probably damaging Het
B020011L13Rik A G 1: 117,728,724 (GRCm39) Y77C Het
Cdk17 A G 10: 93,044,066 (GRCm39) K2E probably damaging Het
Cdk18 A G 1: 132,049,260 (GRCm39) F86L probably benign Het
Clca4a T C 3: 144,659,532 (GRCm39) T775A probably damaging Het
Clvs2 T A 10: 33,389,301 (GRCm39) D313V possibly damaging Het
Col6a5 T C 9: 105,741,788 (GRCm39) Y2377C probably damaging Het
Drd2 T C 9: 49,311,094 (GRCm39) V115A probably damaging Het
Dsp A G 13: 38,377,218 (GRCm39) R1668G probably benign Het
Eif2d T A 1: 131,082,962 (GRCm39) V102E probably damaging Het
Fmo4 A G 1: 162,631,337 (GRCm39) V210A probably damaging Het
Galntl5 A G 5: 25,415,437 (GRCm39) R323G probably damaging Het
Git2 T C 5: 114,904,533 (GRCm39) T129A probably benign Het
Gm572 A G 4: 148,752,913 (GRCm39) H264R possibly damaging Het
Hnrnpll T C 17: 80,369,385 (GRCm39) T13A unknown Het
Ighv7-4 T C 12: 114,186,619 (GRCm39) Y51C probably damaging Het
Irag2 G A 6: 145,113,753 (GRCm39) R307Q probably damaging Het
Jam2 A G 16: 84,619,676 (GRCm39) D289G probably damaging Het
Krt27 A G 11: 99,239,535 (GRCm39) probably null Het
Lama5 T C 2: 179,823,234 (GRCm39) N2704S possibly damaging Het
Lhx8 A T 3: 154,033,764 (GRCm39) S70T possibly damaging Het
Lmo7 C A 14: 102,122,783 (GRCm39) T324N possibly damaging Het
Man2a1 A G 17: 65,040,734 (GRCm39) T907A possibly damaging Het
Map3k4 C T 17: 12,489,860 (GRCm39) A524T probably damaging Het
Mga C T 2: 119,795,304 (GRCm39) A2996V possibly damaging Het
Mybpc1 A T 10: 88,379,624 (GRCm39) M625K possibly damaging Het
Ncald T A 15: 37,372,369 (GRCm39) N159Y probably damaging Het
Nfasc T C 1: 132,527,866 (GRCm39) T832A possibly damaging Het
P2rx5 T A 11: 73,056,427 (GRCm39) I117N Het
Pcdhb3 C A 18: 37,435,416 (GRCm39) R461S possibly damaging Het
Polr1b T C 2: 128,967,417 (GRCm39) S937P probably damaging Het
Prep C A 10: 44,996,807 (GRCm39) Q362K Het
Prg4 T C 1: 150,327,024 (GRCm39) M342V probably benign Het
Prr14 A T 7: 127,073,687 (GRCm39) T184S possibly damaging Het
Prss58 A G 6: 40,874,382 (GRCm39) I98T probably benign Het
Pum3 T C 19: 27,394,188 (GRCm39) T361A probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Sema4c A G 1: 36,591,067 (GRCm39) V424A probably benign Het
Sema6a A T 18: 47,437,216 (GRCm39) I58N probably damaging Het
Slc13a3 T A 2: 165,250,851 (GRCm39) Y506F probably damaging Het
Slc15a2 A G 16: 36,579,651 (GRCm39) V365A probably benign Het
Slc39a5 G A 10: 128,233,628 (GRCm39) L290F probably damaging Het
Spata31f1a A G 4: 42,850,560 (GRCm39) V532A probably benign Het
Taf6l T C 19: 8,759,436 (GRCm39) T161A probably benign Het
Tbl2 T A 5: 135,187,471 (GRCm39) C243S probably benign Het
Tet2 A T 3: 133,193,103 (GRCm39) S444T probably benign Het
Thoc1 C T 18: 9,992,168 (GRCm39) L499F probably damaging Het
Tnc A G 4: 63,913,942 (GRCm39) V1290A probably damaging Het
Tnpo1 T C 13: 98,990,003 (GRCm39) D716G probably damaging Het
Tpp2 A T 1: 44,041,272 (GRCm39) K1236N probably benign Het
Tshr T C 12: 91,504,589 (GRCm39) V509A probably damaging Het
U2surp T C 9: 95,356,535 (GRCm39) T775A Het
Ubap2l T C 3: 89,928,656 (GRCm39) T486A probably benign Het
Usp28 C A 9: 48,935,288 (GRCm39) P457T probably damaging Het
Usp44 A G 10: 93,682,851 (GRCm39) I387V possibly damaging Het
Vmn1r225 A G 17: 20,722,793 (GRCm39) D78G probably damaging Het
Vps13b T C 15: 35,447,880 (GRCm39) M537T possibly damaging Het
Wdr6 G A 9: 108,453,182 (GRCm39) R234C probably damaging Het
Zfp1005 G A 2: 150,110,477 (GRCm39) G389D unknown Het
Zfp949 C A 9: 88,452,182 (GRCm39) T584N 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
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
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'- ACATTCTTGATATGCCAATCCACTC -3'
(R):5'- GTCAGAGACCACGTGACTAGAC -3'

Sequencing Primer
(F):5'- AGCTGGCTTTGAAATCACAGTGC -3'
(R):5'- GACCACGTGACTAGACCAACAAAC -3'
Posted On 2022-07-18