Incidental Mutation 'R2084:Cfap20dc'
ID 230224
Institutional Source Beutler Lab
Gene Symbol Cfap20dc
Ensembl Gene ENSMUSG00000021747
Gene Name CFAP20 domain containing
Synonyms 4930452B06Rik
MMRRC Submission 040089-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R2084 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8558171 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 138 (D138G)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect probably damaging
Transcript: ENSMUST00000102996
AA Change: D138G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: D138G

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 0.6608 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 C T 11: 5,612,378 (GRCm39) Q1237* probably null Het
Aph1c T G 9: 66,726,579 (GRCm39) R258S probably damaging Het
Arfgap3 T A 15: 83,218,767 (GRCm39) N102I probably damaging Het
Astn1 T C 1: 158,299,978 (GRCm39) V106A probably damaging Het
BC005537 G T 13: 24,996,698 (GRCm39) probably null Het
Card10 G A 15: 78,677,171 (GRCm39) T412M possibly damaging Het
Cars1 T C 7: 143,140,919 (GRCm39) I126M probably benign Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Cpped1 T C 16: 11,646,365 (GRCm39) D153G probably damaging Het
Cyp2j11 T A 4: 96,227,438 (GRCm39) I193F probably damaging Het
Dnm2 T C 9: 21,411,667 (GRCm39) probably null Het
Efemp1 A G 11: 28,865,763 (GRCm39) D288G probably damaging Het
Espl1 T C 15: 102,205,286 (GRCm39) probably null Het
Fcgbpl1 G A 7: 27,856,960 (GRCm39) V2103M probably damaging Het
Fcrl5 T C 3: 87,351,537 (GRCm39) F262L probably benign Het
Gh G A 11: 106,191,958 (GRCm39) P84L probably damaging Het
Gm10267 T C 18: 44,290,397 (GRCm39) R37G probably benign Het
Hmgxb3 C T 18: 61,288,095 (GRCm39) probably benign Het
Ifit2 T C 19: 34,550,750 (GRCm39) W97R probably damaging Het
Ift81 T G 5: 122,705,410 (GRCm39) K491Q probably benign Het
Ints8 A G 4: 11,230,377 (GRCm39) V488A probably benign Het
Krba1 T A 6: 48,391,502 (GRCm39) L797Q probably damaging Het
Krr1 T C 10: 111,812,690 (GRCm39) V100A probably damaging Het
Nav1 C T 1: 135,535,158 (GRCm39) probably benign Het
Nos1 C A 5: 118,081,310 (GRCm39) Q1205K probably damaging Het
Nup85 A T 11: 115,459,517 (GRCm39) D125V possibly damaging Het
Or5ak23 T C 2: 85,244,959 (GRCm39) E88G probably benign Het
Pclo T G 5: 14,732,162 (GRCm39) S3555A probably benign Het
Pdzrn3 T C 6: 101,131,256 (GRCm39) I473V probably benign Het
Polr1a A G 6: 71,927,793 (GRCm39) E848G possibly damaging Het
Pop1 T C 15: 34,508,744 (GRCm39) probably benign Het
Pramel23 T A 4: 143,425,920 (GRCm39) T8S probably damaging Het
Prpf3 C T 3: 95,756,301 (GRCm39) E117K probably benign Het
Psmg3 C T 5: 139,809,744 (GRCm39) V101M probably benign Het
Rexo1 G A 10: 80,397,100 (GRCm39) S52L probably benign Het
Ryk C T 9: 102,752,971 (GRCm39) T210M probably damaging Het
Sde2 A G 1: 180,690,198 (GRCm39) E306G probably damaging Het
Sec24c A G 14: 20,741,347 (GRCm39) Q658R probably benign Het
Sgsm1 G A 5: 113,433,266 (GRCm39) T183I probably damaging Het
Skint7 T A 4: 111,837,375 (GRCm39) V51E probably damaging Het
Slc6a5 T A 7: 49,598,002 (GRCm39) M622K probably benign Het
Slco1a5 T C 6: 142,180,437 (GRCm39) H655R probably benign Het
Slco1c1 T A 6: 141,505,578 (GRCm39) Y452* probably null Het
Spn T C 7: 126,736,210 (GRCm39) E99G probably benign Het
Ssc5d A G 7: 4,940,011 (GRCm39) I789V probably benign Het
Taok2 G A 7: 126,469,363 (GRCm39) T1155I probably benign Het
Tet2 T C 3: 133,193,528 (GRCm39) Q302R possibly damaging Het
Trmt1l A G 1: 151,316,605 (GRCm39) T189A probably damaging Het
Tubal3 T C 13: 3,978,192 (GRCm39) I36T possibly damaging Het
Vmn2r71 A T 7: 85,267,945 (GRCm39) Y133F probably benign Het
Vps11 G T 9: 44,264,558 (GRCm39) H673N probably benign Het
Zc3h12a C T 4: 125,013,802 (GRCm39) S354N probably benign Het
Zfp2 A G 11: 50,791,789 (GRCm39) S85P 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
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
Predicted Primers PCR Primer
(F):5'- TACATTTCTCCTAAAGAAGACTCCC -3'
(R):5'- TGCCACCATGTTTCCGGATG -3'

Sequencing Primer
(F):5'- TCCGCAGCTTACAGTTAG -3'
(R):5'- CAGACAGATGAACAGTGTGTAGTTC -3'
Posted On 2014-09-18