Incidental Mutation 'IGL00423:Cfap20dc'
ID 5908
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 # IGL00423
Quality Score
Status
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8473370 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 600 (P600S)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect possibly damaging
Transcript: ENSMUST00000102996
AA Change: P600S

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: P600S

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,747,572 (GRCm39) E781G probably benign Het
Acp7 T C 7: 28,314,122 (GRCm39) T358A possibly damaging Het
Adamtsl2 C A 2: 26,975,100 (GRCm39) T199K probably damaging Het
Ap4e1 T A 2: 126,870,209 (GRCm39) S179T probably damaging Het
BC048671 A G 6: 90,280,200 (GRCm39) T39A probably benign Het
Cnr1 G A 4: 33,944,116 (GRCm39) S168N probably damaging Het
Cp T C 3: 20,039,826 (GRCm39) V881A possibly damaging Het
Cyp4x1 T C 4: 114,979,145 (GRCm39) T151A probably benign Het
Drd2 T C 9: 49,307,058 (GRCm39) I48T probably damaging Het
Gemin5 A T 11: 58,054,643 (GRCm39) I253N probably damaging Het
Herc3 T A 6: 58,845,700 (GRCm39) I407K probably damaging Het
Ighmbp2 G T 19: 3,318,704 (GRCm39) H457Q probably benign Het
Mboat1 A G 13: 30,379,776 (GRCm39) probably benign Het
Myh2 T C 11: 67,088,171 (GRCm39) V1929A probably benign Het
Nucb2 T A 7: 116,121,066 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,619,923 (GRCm39) N383S probably benign Het
Pde1a A G 2: 79,696,014 (GRCm39) L443P probably damaging Het
Prph2 A T 17: 47,230,704 (GRCm39) N199I probably damaging Het
Rab27b A G 18: 70,129,138 (GRCm39) probably null Het
Ranbp3 G A 17: 57,016,238 (GRCm39) D336N probably damaging Het
Rangap1 T C 15: 81,606,194 (GRCm39) D49G probably benign Het
Rasa3 G A 8: 13,645,410 (GRCm39) probably benign Het
Serpina6 T A 12: 103,618,162 (GRCm39) N217I probably damaging Het
Sorbs2 A G 8: 46,252,743 (GRCm39) probably null Het
Spire1 A G 18: 67,662,085 (GRCm39) V116A probably damaging Het
Tdrd1 T C 19: 56,839,896 (GRCm39) V652A possibly damaging Het
Tmprss11g T C 5: 86,640,050 (GRCm39) E193G probably benign Het
Zfp451 A T 1: 33,816,660 (GRCm39) V213D probably benign Het
Other mutations in Cfap20dc
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20