Incidental Mutation 'IGL02865:Cfap20dc'
ID 362309
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 # IGL02865
Quality Score
Status
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8517940 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 293 (E293G)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect probably benign
Transcript: ENSMUST00000102996
AA Change: E293G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: E293G

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Avl9 C A 6: 56,713,858 (GRCm39) T372N probably damaging Het
Ccni C T 5: 93,331,195 (GRCm39) V135I probably benign Het
Dnah17 A G 11: 117,964,374 (GRCm39) F2481S probably damaging Het
Dnajc10 A G 2: 80,161,647 (GRCm39) D295G probably benign Het
Homer2 A G 7: 81,260,080 (GRCm39) F265S probably damaging Het
Hsp90aa1 A G 12: 110,659,516 (GRCm39) V476A probably benign Het
Jarid2 T C 13: 45,064,036 (GRCm39) L855P probably damaging Het
Kif26a T A 12: 112,144,049 (GRCm39) C1434* probably null Het
Lpo A G 11: 87,697,803 (GRCm39) V668A possibly damaging Het
Med12l T C 3: 59,201,713 (GRCm39) Y1973H probably damaging Het
Mep1b C A 18: 21,226,441 (GRCm39) H434Q probably benign Het
Ngly1 T A 14: 16,290,939 (GRCm38) probably benign Het
Ptprn A T 1: 75,239,007 (GRCm39) F9L probably damaging Het
Sema6d T A 2: 124,505,993 (GRCm39) N600K probably damaging Het
Slc1a1 C A 19: 28,882,738 (GRCm39) A334E probably damaging Het
Son A G 16: 91,448,640 (GRCm39) E67G probably damaging Het
Tpmt T C 13: 47,178,878 (GRCm39) Y229C probably benign Het
Vmn2r23 A T 6: 123,718,578 (GRCm39) I644F probably damaging Het
Whrn T C 4: 63,333,729 (GRCm39) M906V probably benign Het
Zfp938 A T 10: 82,062,026 (GRCm39) F198Y 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
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 2015-12-18