Incidental Mutation 'R5455:Cfap20dc'
ID 432728
Institutional Source Beutler Lab
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 # R5455 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 8536516 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect probably null
Transcript: ENSMUST00000102996
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T A 17: 43,632,034 (GRCm39) probably null Het
Ascc3 T C 10: 50,725,679 (GRCm39) V2134A probably benign Het
Cct6b T G 11: 82,645,943 (GRCm39) I80L probably benign Het
Crebbp C A 16: 3,903,831 (GRCm39) V1765L probably benign Het
Cul9 C T 17: 46,821,772 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,792,236 (GRCm39) I236T possibly damaging Het
Dbndd2 C A 2: 164,332,113 (GRCm39) T112K possibly damaging Het
Dmrtc2 A C 7: 24,571,916 (GRCm39) S4R probably benign Het
Dnah6 C T 6: 73,052,717 (GRCm39) V2988I probably benign Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Ercc3 T C 18: 32,400,262 (GRCm39) S705P possibly damaging Het
Gm10306 T G 4: 94,445,077 (GRCm39) probably benign Het
H2-Q6 T C 17: 35,643,860 (GRCm39) L3P unknown Het
Kcnn4 T C 7: 24,076,978 (GRCm39) S176P probably damaging Het
Maml2 T A 9: 13,617,039 (GRCm39) Y128* probably null Het
Map2 G A 1: 66,438,550 (GRCm39) E25K probably damaging Het
Morc2b T A 17: 33,357,584 (GRCm39) M63L probably benign Het
Mthfd1 A G 12: 76,348,062 (GRCm39) I569V probably benign Het
Myh8 G A 11: 67,192,244 (GRCm39) R1399H possibly damaging Het
Nop2 T C 6: 125,117,606 (GRCm39) I424T probably benign Het
Olfm5 T C 7: 103,803,669 (GRCm39) R265G probably damaging Het
Opalin T C 19: 41,058,392 (GRCm39) T14A probably benign Het
Or10j7 A G 1: 173,011,818 (GRCm39) F61S probably damaging Het
Or7a36 C T 10: 78,820,371 (GRCm39) S249F possibly damaging Het
Pced1b C A 15: 97,282,274 (GRCm39) S104R probably benign Het
Pdia2 T G 17: 26,416,137 (GRCm39) Q310P probably null Het
Ppil6 A G 10: 41,374,541 (GRCm39) T141A probably benign Het
Prrc2b A G 2: 32,111,355 (GRCm39) probably null Het
Stxbp5 A G 10: 9,684,252 (GRCm39) S573P probably benign Het
Synpo2l C A 14: 20,712,360 (GRCm39) A87S probably damaging Het
Tor1b GGACG GG 2: 30,846,957 (GRCm39) probably benign Het
Vmn1r89 A T 7: 12,954,194 (GRCm39) H121L probably benign Het
Vmn2r99 T A 17: 19,614,408 (GRCm39) C709* probably null Het
Vstm4 A G 14: 32,585,835 (GRCm39) H134R possibly damaging Het
Zan C T 5: 137,452,262 (GRCm39) C1569Y unknown Het
Zdhhc13 A G 7: 48,455,323 (GRCm39) T122A possibly damaging Het
Zpbp2 G T 11: 98,448,429 (GRCm39) V249L 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
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
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
Predicted Primers PCR Primer
(F):5'- CAATGCTCACATGCCAAGTTC -3'
(R):5'- AGTTTGCTTAGTTGGCAGCAAG -3'

Sequencing Primer
(F):5'- CTCACATGCCAAGTTCTTTATGTAGG -3'
(R):5'- CAAGGGCTTGCATTTGGGG -3'
Posted On 2016-10-06