Incidental Mutation 'R6639:Cfap20dc'
ID 525669
Institutional Source Beutler Lab
Gene Symbol Cfap20dc
Ensembl Gene ENSMUSG00000021747
Gene Name CFAP20 domain containing
Synonyms 4930452B06Rik
MMRRC Submission 044760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6639 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8536530 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 226 (S226P)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect probably benign
Transcript: ENSMUST00000102996
AA Change: S226P

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: S226P

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 0.1446 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T G 10: 10,311,700 (GRCm39) I238L possibly damaging Het
Ankrd33b T C 15: 31,297,818 (GRCm39) Y313C probably damaging Het
Capn15 C T 17: 26,179,152 (GRCm39) V940I probably benign Het
Cdh3 G C 8: 107,237,973 (GRCm39) V56L probably benign Het
Cfap57 T C 4: 118,411,909 (GRCm39) E1245G probably benign Het
Depdc7 C T 2: 104,555,098 (GRCm39) D271N probably damaging Het
Dmtn T C 14: 70,854,870 (GRCm39) D10G probably damaging Het
Dusp12 T C 1: 170,708,243 (GRCm39) E158G probably damaging Het
Egf C T 3: 129,530,481 (GRCm39) G227D probably benign Het
Epha1 C A 6: 42,342,869 (GRCm39) E227* probably null Het
Fbxo40 A T 16: 36,790,937 (GRCm39) C58S probably damaging Het
Focad A G 4: 88,196,479 (GRCm39) T611A unknown Het
Fpr-rs4 C T 17: 18,242,394 (GRCm39) Q134* probably null Het
Fsip2 G A 2: 82,813,571 (GRCm39) D3297N possibly damaging Het
Garnl3 T C 2: 32,879,537 (GRCm39) R930G possibly damaging Het
Hdac4 A T 1: 91,898,670 (GRCm39) C695S probably damaging Het
Ier2 G A 8: 85,388,791 (GRCm39) T197M probably benign Het
Ift74 T A 4: 94,552,496 (GRCm39) probably benign Het
Kat6b A G 14: 21,567,562 (GRCm39) D207G possibly damaging Het
Khdrbs2 A T 1: 32,506,943 (GRCm39) R196* probably null Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Nrip1 G A 16: 76,090,883 (GRCm39) Q225* probably null Het
Or14j3 A G 17: 37,900,822 (GRCm39) C141R probably damaging Het
Or1n2 G A 2: 36,797,690 (GRCm39) C244Y probably damaging Het
Pdrg1 T C 2: 152,857,191 (GRCm39) E17G probably damaging Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Rnf17 C T 14: 56,676,200 (GRCm39) P354S probably benign Het
Sh3rf3 T A 10: 58,919,289 (GRCm39) Y469N probably damaging Het
Thoc6 T A 17: 23,889,428 (GRCm39) probably null Het
Tpm3 C G 3: 89,987,109 (GRCm39) A24G probably damaging Het
Tuft1 T C 3: 94,539,930 (GRCm39) M93V probably benign Het
Vmn1r22 T C 6: 57,877,699 (GRCm39) I93V probably benign Het
Zfp383 T C 7: 29,614,152 (GRCm39) S136P probably benign Het
Zfp748 T C 13: 67,691,024 (GRCm39) K79E probably 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
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
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'- GCTCACATGCCAAGTTCTTTATG -3'
(R):5'- AGTTTGCTTAGTTGGCAGCAAG -3'

Sequencing Primer
(F):5'- CAAGTTCTTTATGTAGGTTTTCTGCC -3'
(R):5'- CAAGGGCTTGCATTTGGGG -3'
Posted On 2018-06-22