Incidental Mutation 'R7115:Cfap20'
ID 551728
Institutional Source Beutler Lab
Gene Symbol Cfap20
Ensembl Gene ENSMUSG00000031796
Gene Name cilia and flagella associated protein 20
Synonyms T10-2A2, 2600014O15Rik, Gtl3
MMRRC Submission 045206-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7115 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 95420249-95434869 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95421246 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 156 (I156V)
Ref Sequence ENSEMBL: ENSMUSP00000034249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034249] [ENSMUST00000211908] [ENSMUST00000212131] [ENSMUST00000212684] [ENSMUST00000213086]
AlphaFold Q8BTU1
Predicted Effect probably benign
Transcript: ENSMUST00000034249
AA Change: I156V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000034249
Gene: ENSMUSG00000031796
AA Change: I156V

Pfam:DUF667 1 185 1.3e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211908
Predicted Effect probably benign
Transcript: ENSMUST00000212131
Predicted Effect probably benign
Transcript: ENSMUST00000212684
Predicted Effect probably benign
Transcript: ENSMUST00000213086
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,437,725 (GRCm38) I636N probably benign Het
Adam5 A G 8: 24,781,696 (GRCm38) I565T possibly damaging Het
Amd2 C A 10: 35,711,637 (GRCm38) probably benign Het
Ap5m1 T A 14: 49,086,270 (GRCm38) Y472* probably null Het
Apcdd1 T C 18: 62,936,953 (GRCm38) F97S probably damaging Het
Axdnd1 T C 1: 156,380,876 (GRCm38) K267R Het
BC067074 T G 13: 113,320,776 (GRCm38) S1119A Het
Carf G T 1: 60,148,150 (GRCm38) L637F probably damaging Het
Ccdc103 A T 11: 102,883,810 (GRCm38) S95C possibly damaging Het
Csn1s2a T C 5: 87,781,805 (GRCm38) C96R probably benign Het
Dennd2a G A 6: 39,506,711 (GRCm38) T405M probably damaging Het
Dennd5a A G 7: 109,894,754 (GRCm38) Y1248H probably damaging Het
Dnah14 A T 1: 181,720,145 (GRCm38) K2504N probably damaging Het
Dnajb2 G A 1: 75,243,662 (GRCm38) G275D Het
Elf3 T G 1: 135,257,118 (GRCm38) D110A probably damaging Het
Eomes A G 9: 118,484,489 (GRCm38) N534S probably benign Het
Fry A T 5: 150,386,067 (GRCm38) R659W probably damaging Het
Gm10428 G A 11: 62,753,380 (GRCm38) C94Y unknown Het
Gm2696 T A 10: 77,836,299 (GRCm38) C111S unknown Het
Gpt2 G A 8: 85,518,052 (GRCm38) E325K probably benign Het
Lrp1b T A 2: 40,998,235 (GRCm38) N2338Y Het
Map2k1 A G 9: 64,212,606 (GRCm38) I139T probably damaging Het
Olfr44 T C 9: 39,484,648 (GRCm38) I202V probably benign Het
Olfr964-ps1 T C 9: 39,686,707 (GRCm38) Y79C probably benign Het
Pxylp1 G A 9: 96,825,010 (GRCm38) T373I probably benign Het
Ranbp9 T C 13: 43,406,671 (GRCm38) N484S probably benign Het
Rassf5 A G 1: 131,181,249 (GRCm38) V293A probably benign Het
Ring1 A G 17: 34,023,446 (GRCm38) I29T probably damaging Het
Scn1a G A 2: 66,324,618 (GRCm38) Q666* probably null Het
Spice1 G A 16: 44,379,275 (GRCm38) G697R probably benign Het
Tas2r131 A G 6: 132,957,604 (GRCm38) F81L probably benign Het
Tenm2 G A 11: 36,163,817 (GRCm38) S572L probably damaging Het
Tfr2 A G 5: 137,571,715 (GRCm38) T128A probably benign Het
Trim56 T A 5: 137,113,660 (GRCm38) Q334L probably damaging Het
Vmn2r44 T A 7: 8,367,528 (GRCm38) R840* probably null Het
Other mutations in Cfap20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Cfap20 APN 8 95,424,659 (GRCm38) missense probably damaging 1.00
R1106:Cfap20 UTSW 8 95,421,245 (GRCm38) missense probably damaging 0.99
R4182:Cfap20 UTSW 8 95,424,656 (GRCm38) missense probably damaging 1.00
R4746:Cfap20 UTSW 8 95,422,056 (GRCm38) critical splice donor site probably null
R7150:Cfap20 UTSW 8 95,422,167 (GRCm38) missense probably damaging 0.99
R9574:Cfap20 UTSW 8 95,422,886 (GRCm38) missense probably benign 0.01
Z1176:Cfap20 UTSW 8 95,434,525 (GRCm38) missense possibly damaging 0.72
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-15