Incidental Mutation 'IGL01131:Cfap20'
ID51804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap20
Ensembl Gene ENSMUSG00000031796
Gene Namecilia and flagella associated protein 20
SynonymsT10-2A2, 2600014O15Rik, Gtl3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL01131
Quality Score
Status
Chromosome8
Chromosomal Location95420249-95434869 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95424659 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 18 (D18G)
Ref Sequence ENSEMBL: ENSMUSP00000148415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034249] [ENSMUST00000211908] [ENSMUST00000212131] [ENSMUST00000212684] [ENSMUST00000213086]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034249
AA Change: D41G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034249
Gene: ENSMUSG00000031796
AA Change: D41G

DomainStartEndE-ValueType
Pfam:DUF667 1 185 1.3e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211908
AA Change: D41G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000212131
AA Change: D18G

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 possibly damaging
Transcript: ENSMUST00000213086
AA Change: D41G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Cpne3 T C 4: 19,543,318 D160G probably damaging Het
Ercc3 A G 18: 32,269,889 *784W probably null Het
Fam53b T C 7: 132,715,782 E377G probably damaging Het
Far2 T C 6: 148,150,598 V125A possibly damaging Het
Fasn T C 11: 120,814,619 E1192G probably benign Het
Irf5 A G 6: 29,536,103 E372G probably damaging Het
Kif2c C T 4: 117,172,365 V140M probably damaging Het
Klre1 T C 6: 129,584,170 F165L possibly damaging Het
Kmt2a C T 9: 44,821,170 probably benign Het
Lrp2 C T 2: 69,499,239 C1728Y probably damaging Het
Muc4 C A 16: 32,753,901 T1259N possibly damaging Het
Nlrp9b A G 7: 20,023,537 D233G probably damaging Het
Nuf2 T C 1: 169,522,364 probably benign Het
Nynrin A G 14: 55,872,685 K1750E probably damaging Het
Olfr1463 A G 19: 13,234,739 D163G probably benign Het
Parp4 C A 14: 56,585,760 probably benign Het
Rbms1 T C 2: 60,758,836 M287V probably benign Het
Rhox3c G A X: 37,470,329 R71K probably damaging Het
Rufy1 A G 11: 50,392,023 L638P probably damaging Het
Slc15a3 G A 19: 10,857,622 probably benign Het
Slc26a9 T C 1: 131,755,542 probably null Het
Slc6a13 A G 6: 121,321,641 Y150C probably damaging Het
Slitrk6 A T 14: 110,751,576 L233Q probably damaging Het
Ugt3a2 T A 15: 9,365,162 I287N probably damaging Het
Unc13c T C 9: 73,564,053 N1778S probably benign Het
Vmn1r212 T C 13: 22,883,159 N335D unknown Het
Wdfy1 C T 1: 79,713,872 V273I probably benign Het
Other mutations in Cfap20
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1106:Cfap20 UTSW 8 95421245 missense probably damaging 0.99
R4182:Cfap20 UTSW 8 95424656 missense probably damaging 1.00
R4746:Cfap20 UTSW 8 95422056 critical splice donor site probably null
R7115:Cfap20 UTSW 8 95421246 missense probably benign 0.00
R7150:Cfap20 UTSW 8 95422167 missense probably damaging 0.99
Z1176:Cfap20 UTSW 8 95434525 missense possibly damaging 0.72
Posted On2013-06-21