Incidental Mutation 'IGL02385:Cfap20dc'
ID 291508
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 # IGL02385
Quality Score
Status
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8510920 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 498 (V498A)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect possibly damaging
Transcript: ENSMUST00000102996
AA Change: V498A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: V498A

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,201,630 (GRCm39) D351E probably damaging Het
Adad2 A G 8: 120,341,773 (GRCm39) probably benign Het
Adamts8 A G 9: 30,873,026 (GRCm39) N744D probably benign Het
Atad5 C T 11: 79,985,453 (GRCm39) T180I probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bcl9 A T 3: 97,116,594 (GRCm39) I700K probably benign Het
Bcr T C 10: 74,981,235 (GRCm39) S685P probably damaging Het
Cd36 A G 5: 18,019,717 (GRCm39) V128A probably benign Het
Chd2 T C 7: 73,085,570 (GRCm39) Y1688C probably damaging Het
Csmd1 A G 8: 15,953,275 (GRCm39) V3402A probably benign Het
Dsg3 T C 18: 20,660,771 (GRCm39) V370A probably damaging Het
Dus4l A G 12: 31,690,674 (GRCm39) probably benign Het
Fcrlb A G 1: 170,735,168 (GRCm39) S320P probably damaging Het
Fer1l4 T C 2: 155,887,348 (GRCm39) D616G probably benign Het
Fxr2 C T 11: 69,543,095 (GRCm39) R631C possibly damaging Het
Gltpd2 T A 11: 70,410,822 (GRCm39) F152I probably damaging Het
Gpt2 T A 8: 86,242,782 (GRCm39) probably null Het
Hsd3b6 A T 3: 98,713,888 (GRCm39) I137K possibly damaging Het
Kcna6 A G 6: 126,715,917 (GRCm39) V324A probably benign Het
Kcnu1 C T 8: 26,422,298 (GRCm39) L188F probably damaging Het
Kdm1b A G 13: 47,221,982 (GRCm39) I474V possibly damaging Het
Kifap3 C T 1: 163,693,013 (GRCm39) Q602* probably null Het
Lrp4 T A 2: 91,305,065 (GRCm39) C231S possibly damaging Het
Lrrc63 T C 14: 75,323,640 (GRCm39) D528G probably benign Het
Nosip C A 7: 44,726,156 (GRCm39) R240S possibly damaging Het
Or11g26 T C 14: 50,752,900 (GRCm39) S80P probably damaging Het
Or4f57 G A 2: 111,790,603 (GRCm39) P272S probably benign Het
Or4k41 A G 2: 111,279,695 (GRCm39) D70G probably damaging Het
Orc5 A T 5: 22,731,438 (GRCm39) D231E probably damaging Het
Poli A T 18: 70,659,645 (GRCm39) M62K possibly damaging Het
Ppp1r13b A C 12: 111,801,477 (GRCm39) S402R probably damaging Het
Prl3b1 T C 13: 27,433,366 (GRCm39) S174P possibly damaging Het
Ptpra T C 2: 130,382,393 (GRCm39) probably benign Het
Sfpq T A 4: 126,919,929 (GRCm39) probably null Het
Sh3bp1 T A 15: 78,790,088 (GRCm39) probably benign Het
Slc7a2 T G 8: 41,352,048 (GRCm39) V37G probably damaging Het
Smc1a A T X: 150,820,655 (GRCm39) E794D possibly damaging Het
Sox6 T C 7: 115,149,274 (GRCm39) R366G possibly damaging Het
Spaca7 A G 8: 12,636,498 (GRCm39) N108S possibly damaging Het
Spon1 T G 7: 113,365,567 (GRCm39) M1R probably null Het
Sult6b2 T C 6: 142,747,498 (GRCm39) R84G probably benign Het
Syt2 A G 1: 134,673,553 (GRCm39) N299S probably benign Het
Syvn1 T C 19: 6,098,570 (GRCm39) V104A probably damaging Het
Tbpl1 A G 10: 22,583,568 (GRCm39) L134P probably damaging Het
Tex11 A T X: 99,920,135 (GRCm39) probably benign Het
Tnfrsf21 A G 17: 43,350,942 (GRCm39) S369G probably damaging Het
Tram1l1 T C 3: 124,115,707 (GRCm39) V289A probably benign Het
Ttyh3 A T 5: 140,619,060 (GRCm39) F277L probably benign Het
Vmn2r17 T G 5: 109,582,247 (GRCm39) N545K probably damaging Het
Wdr20 A T 12: 110,759,657 (GRCm39) H181L probably benign Het
Zscan20 A G 4: 128,498,392 (GRCm39) M2T possibly damaging 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
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 2015-04-16