Incidental Mutation 'IGL03030:Cfap20dc'
ID 408413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap20dc
Ensembl Gene ENSMUSG00000021747
Gene Name CFAP20 domain containing
Synonyms 4930452B06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03030
Quality Score
Status
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8511113 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 434 (S434P)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect probably damaging
Transcript: ENSMUST00000102996
AA Change: S434P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: S434P

DomainStartEndE-ValueType
Pfam:DUF667 1 188 1.7e-43 PFAM
low complexity region 344 358 N/A INTRINSIC
low complexity region 506 519 N/A INTRINSIC
low complexity region 568 578 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
low complexity region 639 650 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225744
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,145,057 (GRCm39) V367A possibly damaging Het
Abcb5 A T 12: 118,904,104 (GRCm39) S200R possibly damaging Het
Adam29 T C 8: 56,326,100 (GRCm39) D118G probably damaging Het
Adh4 A G 3: 138,134,906 (GRCm39) D360G probably benign Het
Ankle2 A G 5: 110,399,476 (GRCm39) Q611R possibly damaging Het
Ankra2 C T 13: 98,409,881 (GRCm39) probably benign Het
Ap1g2 T A 14: 55,343,504 (GRCm39) I28F probably damaging Het
Baz2a C T 10: 127,961,015 (GRCm39) T1608I possibly damaging Het
Cacnb4 T C 2: 52,364,894 (GRCm39) D123G probably damaging Het
Cage1 G A 13: 38,212,123 (GRCm39) T51M probably benign Het
Ccdc63 A G 5: 122,260,876 (GRCm39) V216A probably benign Het
Ccnd2 A G 6: 127,125,841 (GRCm39) V65A probably damaging Het
Chd3 T A 11: 69,245,230 (GRCm39) T1163S possibly damaging Het
Cmbl A G 15: 31,589,823 (GRCm39) probably benign Het
Cobl G T 11: 12,204,241 (GRCm39) N813K possibly damaging Het
Cog5 G A 12: 31,840,921 (GRCm39) V249M probably damaging Het
Cps1 A G 1: 67,182,080 (GRCm39) N98S probably damaging Het
Cracd A G 5: 77,005,463 (GRCm39) D608G unknown Het
D630045J12Rik A T 6: 38,126,648 (GRCm39) I1454N probably damaging Het
Elmo2 A G 2: 165,136,237 (GRCm39) V603A possibly damaging Het
F12 A G 13: 55,569,332 (GRCm39) probably benign Het
Ficd G A 5: 113,874,990 (GRCm39) V20I probably benign Het
Gatad2b G T 3: 90,249,244 (GRCm39) G94V probably benign Het
Gm4845 G A 1: 141,184,403 (GRCm39) noncoding transcript Het
Hrnr G A 3: 93,227,908 (GRCm39) V9I possibly damaging Het
Kifc3 A G 8: 95,829,040 (GRCm39) S584P probably damaging Het
Klk1b24 C A 7: 43,840,790 (GRCm39) Q73K probably benign Het
Lrp10 C A 14: 54,706,619 (GRCm39) N518K possibly damaging Het
Lsr A G 7: 30,658,706 (GRCm39) V247A possibly damaging Het
Mfsd6 A T 1: 52,748,862 (GRCm39) M1K probably null Het
Mprip T A 11: 59,631,941 (GRCm39) probably null Het
Myo3b G T 2: 70,257,160 (GRCm39) probably benign Het
Oprd1 A G 4: 131,844,696 (GRCm39) F104S possibly damaging Het
Or1l4 T C 2: 37,091,883 (GRCm39) V210A probably benign Het
Or2g1 T A 17: 38,107,162 (GRCm39) Y276N probably damaging Het
Or4b1d A T 2: 89,969,006 (GRCm39) I159N possibly damaging Het
Or5ar1 T C 2: 85,671,416 (GRCm39) T240A probably damaging Het
Or5b109 C T 19: 13,212,418 (GRCm39) S268L probably damaging Het
Palb2 A G 7: 121,712,479 (GRCm39) V591A probably damaging Het
Pcdhb18 A T 18: 37,623,786 (GRCm39) D372V probably damaging Het
Phc3 A G 3: 30,991,002 (GRCm39) V405A probably damaging Het
Phf20l1 A T 15: 66,513,796 (GRCm39) probably benign Het
Pik3ip1 A G 11: 3,283,259 (GRCm39) K57E possibly damaging Het
Pkhd1l1 G A 15: 44,455,372 (GRCm39) M4044I probably benign Het
Pkhd1l1 T C 15: 44,460,298 (GRCm39) V4169A probably benign Het
Pklr A T 3: 89,049,963 (GRCm39) I313F probably damaging Het
Plxna4 T A 6: 32,179,160 (GRCm39) T952S probably benign Het
Pop4 A T 7: 37,962,730 (GRCm39) I178N probably damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Prss40 A C 1: 34,597,182 (GRCm39) V122G probably damaging Het
Rapgef2 C A 3: 78,981,614 (GRCm39) probably null Het
Rbm19 A G 5: 120,269,311 (GRCm39) D538G probably damaging Het
Rnf44 G A 13: 54,829,803 (GRCm39) R312* probably null Het
Rock1 T C 18: 10,070,215 (GRCm39) probably benign Het
Rrp1b A G 17: 32,275,875 (GRCm39) E474G probably damaging Het
Ryr2 T A 13: 11,699,365 (GRCm39) I2959F probably damaging Het
Sidt2 A G 9: 45,850,803 (GRCm39) S801P probably damaging Het
Skint6 T C 4: 112,870,153 (GRCm39) I602V probably benign Het
Slc6a19 C A 13: 73,848,590 (GRCm39) V55L probably damaging Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Trappc11 C A 8: 47,966,964 (GRCm39) V440F probably damaging Het
Vmn1r236 G A 17: 21,507,108 (GRCm39) W75* probably null Het
Vmn2r52 A G 7: 9,892,799 (GRCm39) F780S probably benign Het
Vmn2r82 G T 10: 79,217,149 (GRCm39) A494S possibly damaging Het
Vwa3b A T 1: 37,084,049 (GRCm39) K74M probably damaging Het
Wrn T A 8: 33,738,989 (GRCm39) I1037F possibly damaging Het
Zfp13 T C 17: 23,799,819 (GRCm39) T82A probably benign Het
Zfp82 T C 7: 29,756,890 (GRCm39) E64G probably benign Het
Other mutations in Cfap20dc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Cfap20dc APN 14 8,473,370 (GRCm38) missense possibly damaging 0.57
IGL02010:Cfap20dc APN 14 8,578,384 (GRCm38) missense possibly damaging 0.68
IGL02385:Cfap20dc APN 14 8,510,920 (GRCm38) missense possibly damaging 0.59
IGL02431:Cfap20dc APN 14 8,659,424 (GRCm38) missense probably damaging 1.00
IGL02723:Cfap20dc APN 14 8,516,507 (GRCm38) missense probably benign 0.02
IGL02865:Cfap20dc APN 14 8,517,940 (GRCm38) missense probably benign 0.00
IGL03204:Cfap20dc APN 14 8,644,436 (GRCm38) missense possibly damaging 0.68
IGL03014:Cfap20dc UTSW 14 8,431,608 (GRCm38) makesense probably null
R0197:Cfap20dc UTSW 14 8,518,695 (GRCm38) missense probably damaging 1.00
R0265:Cfap20dc UTSW 14 8,431,667 (GRCm38) missense probably damaging 1.00
R0513:Cfap20dc UTSW 14 8,536,609 (GRCm38) missense probably damaging 1.00
R0647:Cfap20dc UTSW 14 8,536,655 (GRCm38) missense possibly damaging 0.94
R1168:Cfap20dc UTSW 14 8,442,939 (GRCm38) missense probably benign 0.22
R1610:Cfap20dc UTSW 14 8,511,110 (GRCm38) missense probably benign 0.00
R1625:Cfap20dc UTSW 14 8,431,668 (GRCm38) missense probably damaging 1.00
R2010:Cfap20dc UTSW 14 8,511,021 (GRCm38) missense probably damaging 1.00
R2084:Cfap20dc UTSW 14 8,558,171 (GRCm38) missense probably damaging 1.00
R2174:Cfap20dc UTSW 14 8,558,109 (GRCm38) missense probably benign 0.02
R3802:Cfap20dc UTSW 14 8,510,931 (GRCm38) missense probably benign 0.00
R4244:Cfap20dc UTSW 14 8,482,521 (GRCm38) missense probably benign 0.00
R4471:Cfap20dc UTSW 14 8,536,571 (GRCm38) missense probably damaging 1.00
R4516:Cfap20dc UTSW 14 8,536,609 (GRCm38) missense probably damaging 1.00
R4824:Cfap20dc UTSW 14 8,665,997 (GRCm38) start codon destroyed probably null 0.93
R4884:Cfap20dc UTSW 14 8,578,394 (GRCm38) missense probably damaging 0.97
R4975:Cfap20dc UTSW 14 8,518,736 (GRCm38) missense probably benign 0.00
R5455:Cfap20dc UTSW 14 8,536,516 (GRCm38) critical splice donor site probably null
R6280:Cfap20dc UTSW 14 8,473,414 (GRCm38) critical splice acceptor site probably null
R6438:Cfap20dc UTSW 14 8,431,701 (GRCm38) missense probably damaging 0.98
R6639:Cfap20dc UTSW 14 8,536,530 (GRCm38) missense probably benign 0.12
R7101:Cfap20dc UTSW 14 8,511,171 (GRCm38) missense possibly damaging 0.75
R7456:Cfap20dc UTSW 14 8,442,933 (GRCm38) nonsense probably null
R8266:Cfap20dc UTSW 14 8,482,599 (GRCm38) nonsense probably null
R8854:Cfap20dc UTSW 14 8,518,638 (GRCm38) missense probably damaging 1.00
R9053:Cfap20dc UTSW 14 8,518,768 (GRCm38) critical splice acceptor site probably null
R9157:Cfap20dc UTSW 14 8,518,635 (GRCm38) missense probably benign 0.00
R9294:Cfap20dc UTSW 14 8,578,361 (GRCm38) missense possibly damaging 0.84
R9313:Cfap20dc UTSW 14 8,518,635 (GRCm38) missense probably benign 0.00
R9502:Cfap20dc UTSW 14 8,659,452 (GRCm38) missense probably damaging 0.98
Z1177:Cfap20dc UTSW 14 8,517,953 (GRCm38) nonsense probably null
Posted On 2016-08-02