Incidental Mutation 'R4182:Cfap20'
ID 319780
Institutional Source Beutler Lab
Gene Symbol Cfap20
Ensembl Gene ENSMUSG00000031796
Gene Name cilia and flagella associated protein 20
Synonyms 2600014O15Rik, T10-2A2, Gtl3
MMRRC Submission 041018-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R4182 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 96146877-96161497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96151284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 19 (I19N)
Ref Sequence ENSEMBL: ENSMUSP00000148415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034249] [ENSMUST00000211908] [ENSMUST00000212131] [ENSMUST00000212684] [ENSMUST00000213086]
AlphaFold Q8BTU1
Predicted Effect probably damaging
Transcript: ENSMUST00000034249
AA Change: I42N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034249
Gene: ENSMUSG00000031796
AA Change: I42N

DomainStartEndE-ValueType
Pfam:DUF667 1 185 1.3e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211908
AA Change: I42N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000212131
AA Change: I19N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212579
Predicted Effect probably benign
Transcript: ENSMUST00000212684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212807
Predicted Effect probably damaging
Transcript: ENSMUST00000213086
AA Change: I42N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Meta Mutation Damage Score 0.9442 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap12 T C 18: 6,111,734 (GRCm39) D210G probably damaging Het
Baz2b A T 2: 59,928,801 (GRCm39) probably benign Het
Bcl9 A G 3: 97,120,999 (GRCm39) probably null Het
Clnk T A 5: 38,905,193 (GRCm39) probably benign Het
Col18a1 C T 10: 76,894,675 (GRCm39) probably null Het
Cux2 C T 5: 122,006,555 (GRCm39) G905D probably damaging Het
Ddx1 A T 12: 13,281,504 (GRCm39) L353* probably null Het
Ddx59 T A 1: 136,367,599 (GRCm39) S569T probably benign Het
Des C G 1: 75,339,228 (GRCm39) A251G probably benign Het
Dnajc21 T C 15: 10,460,019 (GRCm39) probably null Het
Fam217a T C 13: 35,094,239 (GRCm39) T416A possibly damaging Het
Gbp9 T A 5: 105,231,461 (GRCm39) Q375L probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
H2-T24 A T 17: 36,326,376 (GRCm39) N174K possibly damaging Het
Heatr3 T C 8: 88,897,630 (GRCm39) probably benign Het
Lurap1l G A 4: 80,872,095 (GRCm39) S196N probably benign Het
Naaa C T 5: 92,420,413 (GRCm39) probably null Het
Nbea A G 3: 55,915,848 (GRCm39) C875R probably damaging Het
Nme1 G A 11: 93,851,630 (GRCm39) T87I probably benign Het
Nphp3 T C 9: 103,915,663 (GRCm39) S124P probably benign Het
Nrap C T 19: 56,338,759 (GRCm39) V907M probably damaging Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Or4f59 G T 2: 111,872,873 (GRCm39) P168Q probably damaging Het
Pcdhga8 A G 18: 37,860,336 (GRCm39) N464S probably damaging Het
Pdcd6ip T C 9: 113,529,078 (GRCm39) I75V probably benign Het
Ralgapa2 G A 2: 146,277,914 (GRCm39) P416S probably damaging Het
Saal1 A G 7: 46,360,076 (GRCm39) probably benign Het
Susd5 A G 9: 113,925,053 (GRCm39) E312G probably benign Het
Tgfb2 T A 1: 186,361,222 (GRCm39) D315V possibly damaging Het
Tll1 C T 8: 64,494,545 (GRCm39) D737N probably damaging Het
Tmem115 A G 9: 107,412,482 (GRCm39) T269A probably damaging Het
Ttc39b T C 4: 83,155,538 (GRCm39) D490G probably damaging Het
Vmn1r72 C T 7: 11,403,995 (GRCm39) R151K probably benign Het
Vmn2r74 A T 7: 85,606,395 (GRCm39) F317Y possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zfp560 A G 9: 20,258,744 (GRCm39) I706T probably benign Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Other mutations in Cfap20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Cfap20 APN 8 96,151,287 (GRCm39) missense probably damaging 1.00
R1106:Cfap20 UTSW 8 96,147,873 (GRCm39) missense probably damaging 0.99
R4746:Cfap20 UTSW 8 96,148,684 (GRCm39) critical splice donor site probably null
R7115:Cfap20 UTSW 8 96,147,874 (GRCm39) missense probably benign 0.00
R7150:Cfap20 UTSW 8 96,148,795 (GRCm39) missense probably damaging 0.99
R9574:Cfap20 UTSW 8 96,149,514 (GRCm39) missense probably benign 0.01
Z1176:Cfap20 UTSW 8 96,161,153 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- CTGATTTCTACGCTGGGCATGG -3'
(R):5'- GACGTGTTGCCAACTTGTATG -3'

Sequencing Primer
(F):5'- GGGAAACACTCCTACTTTGCAGATG -3'
(R):5'- GCCAACTTGTATGTCATGTGTC -3'
Posted On 2015-06-10