Incidental Mutation 'R3802:Cfap20dc'
ID 274374
Institutional Source Beutler Lab
Gene Symbol Cfap20dc
Ensembl Gene ENSMUSG00000021747
Gene Name CFAP20 domain containing
Synonyms 4930452B06Rik
MMRRC Submission 040761-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R3802 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 8510931 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 494 (D494E)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect probably benign
Transcript: ENSMUST00000102996
AA Change: D494E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: D494E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A T 4: 144,430,074 (GRCm39) L305Q possibly damaging Het
Abcc2 C A 19: 43,810,065 (GRCm39) N874K probably benign Het
Axl A T 7: 25,487,902 (GRCm39) M1K probably null Het
Btaf1 A T 19: 36,963,948 (GRCm39) T840S probably benign Het
Btaf1 A T 19: 36,966,373 (GRCm39) H1047L probably benign Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Ccdc39 A T 3: 33,874,044 (GRCm39) M596K probably damaging Het
Cfap58 G T 19: 47,941,498 (GRCm39) D289Y possibly damaging Het
Cnn2 A G 10: 79,829,329 (GRCm39) D153G probably benign Het
Cstdc2 T C 2: 148,692,616 (GRCm39) H62R probably benign Het
Cubn T C 2: 13,365,164 (GRCm39) I1625V probably benign Het
Gprc5b C T 7: 118,582,943 (GRCm39) D309N possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Gstm3 G A 3: 107,871,551 (GRCm39) T210I probably benign Het
Hhipl1 A G 12: 108,278,566 (GRCm39) E298G probably benign Het
Hivep2 A G 10: 14,024,705 (GRCm39) D2173G possibly damaging Het
Hsd17b8 A T 17: 34,245,441 (GRCm39) V231E probably damaging Het
Jarid2 T A 13: 45,056,307 (GRCm39) N365K probably benign Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Kpnb1 A T 11: 97,056,955 (GRCm39) V638E possibly damaging Het
Lipo3 C T 19: 33,762,257 (GRCm39) C80Y probably damaging Het
Mga T A 2: 119,777,820 (GRCm39) N1788K probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr10 A G 7: 63,970,376 (GRCm39) Y373C probably benign Het
Ncoa6 C T 2: 155,247,484 (GRCm39) G1940D probably benign Het
Nelfe T A 17: 35,072,877 (GRCm39) F166L possibly damaging Het
Nfatc3 A G 8: 106,806,277 (GRCm39) Y374C probably damaging Het
Nhlrc3 A G 3: 53,366,052 (GRCm39) V147A possibly damaging Het
Or51f1d A G 7: 102,701,372 (GRCm39) Y289C probably benign Het
Or8g33 G A 9: 39,337,582 (GRCm39) P262S probably damaging Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Papolg A T 11: 23,826,449 (GRCm39) I235N probably damaging Het
Pdgfrl T C 8: 41,438,594 (GRCm39) S177P probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prpf4b T C 13: 35,067,665 (GRCm39) probably benign Het
Sgk1 T C 10: 21,873,311 (GRCm39) V259A probably damaging Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Smco1 A G 16: 32,092,716 (GRCm39) Y129C probably benign Het
Tas2r106 C A 6: 131,655,329 (GRCm39) S174I probably benign Het
Tektl1 A C 10: 78,584,314 (GRCm39) F367C probably damaging Het
Tsn A T 1: 118,233,026 (GRCm39) F93I probably damaging Het
Vav2 T C 2: 27,157,235 (GRCm39) probably benign Het
Vmn2r63 A T 7: 42,552,829 (GRCm39) M809K probably damaging Het
Zfp260 G A 7: 29,804,504 (GRCm39) E135K probably benign Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zkscan2 A T 7: 123,094,365 (GRCm39) 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
IGL03030:Cfap20dc APN 14 8,511,113 (GRCm38) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GAGTTACCATAACAACCGGATGGG -3'
(R):5'- TCGAACCTGTGGCTAGAAACC -3'

Sequencing Primer
(F):5'- GACTGTTGACTGACACAGCAATCTG -3'
(R):5'- CCTGTGGCTAGAAACCAGCAAG -3'
Posted On 2015-04-02