Incidental Mutation 'IGL02723:Cfap20dc'
ID 305049
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 # IGL02723
Quality Score
Status
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8516507 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 347 (N347S)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect probably benign
Transcript: ENSMUST00000102996
AA Change: N347S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: N347S

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn9 A T 8: 125,335,922 (GRCm39) probably benign Het
Cchcr1 A C 17: 35,841,699 (GRCm39) K761Q probably benign Het
Csk G T 9: 57,538,672 (GRCm39) probably benign Het
Cyp2j7 T C 4: 96,118,366 (GRCm39) K76E probably benign Het
Dpep1 G A 8: 123,920,888 (GRCm39) A23T possibly damaging Het
Dpp8 T A 9: 64,949,549 (GRCm39) M98K possibly damaging Het
Dspp C A 5: 104,323,041 (GRCm39) N61K probably benign Het
Eno2 T C 6: 124,738,626 (GRCm39) Y364C probably damaging Het
Gfra1 A G 19: 58,441,683 (GRCm39) S83P probably benign Het
Gramd1b T C 9: 40,218,127 (GRCm39) E563G probably damaging Het
Kcns2 G T 15: 34,838,961 (GRCm39) W108L probably damaging Het
Mroh4 T C 15: 74,480,086 (GRCm39) probably benign Het
Obscn A T 11: 59,015,446 (GRCm39) S1009T probably benign Het
Or2y11 A G 11: 49,443,506 (GRCm39) R311G probably benign Het
Or5b119 A G 19: 13,456,699 (GRCm39) Y288H probably damaging Het
Or7g32 T C 9: 19,388,805 (GRCm39) H244R probably damaging Het
Or8b41 A G 9: 38,054,707 (GRCm39) K92R probably benign Het
Plcb2 G A 2: 118,547,500 (GRCm39) probably benign Het
Rpl13a-ps1 T A 19: 50,019,111 (GRCm39) I22F possibly damaging Het
Skil A G 3: 31,171,673 (GRCm39) E599G probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Spata31 T C 13: 65,068,463 (GRCm39) S204P probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tenm3 A T 8: 48,729,938 (GRCm39) V1356E probably benign Het
Trpc3 T A 3: 36,704,377 (GRCm39) I527F probably benign Het
Vmn2r69 A G 7: 85,059,416 (GRCm39) W498R probably damaging Het
Vwde T A 6: 13,205,759 (GRCm39) I263L probably damaging Het
Vwf G T 6: 125,619,893 (GRCm39) V1524L possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G 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
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 2015-04-16