Incidental Mutation 'R7101:Cfap20dc'
ID 550851
Institutional Source Beutler Lab
Gene Symbol Cfap20dc
Ensembl Gene ENSMUSG00000021747
Gene Name CFAP20 domain containing
Synonyms 4930452B06Rik
MMRRC Submission 045193-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R7101 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 8511171 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 414 (S414R)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect possibly damaging
Transcript: ENSMUST00000102996
AA Change: S414R

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: S414R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,438 (GRCm39) D568G probably benign Het
Angpt1 T C 15: 42,386,965 (GRCm39) I130V probably benign Het
Ankrd11 G T 8: 123,622,194 (GRCm39) Q553K probably benign Het
Ankrd42 A T 7: 92,280,752 (GRCm39) H59Q possibly damaging Het
Ankrd52 C T 10: 128,218,249 (GRCm39) R318C probably damaging Het
Arrdc5 G A 17: 56,601,522 (GRCm39) T201M probably damaging Het
Atxn1l A G 8: 110,459,132 (GRCm39) S377P probably benign Het
Baz2a T C 10: 127,957,056 (GRCm39) F936S possibly damaging Het
Bicc1 T C 10: 70,766,483 (GRCm39) D913G probably damaging Het
Blnk T A 19: 40,961,082 (GRCm39) M21L probably benign Het
Cabin1 T C 10: 75,587,401 (GRCm39) H132R probably benign Het
Ccdc154 A G 17: 25,382,442 (GRCm39) H88R probably benign Het
Clic5 G T 17: 44,586,179 (GRCm39) A223S probably benign Het
Col28a1 T A 6: 8,014,795 (GRCm39) Y870F possibly damaging Het
Dhx37 G A 5: 125,502,006 (GRCm39) Q497* probably null Het
Dnah11 T C 12: 118,031,880 (GRCm39) T1763A probably benign Het
Dnajc13 T C 9: 104,042,221 (GRCm39) R2005G possibly damaging Het
Dop1a G A 9: 86,389,722 (GRCm39) G541S probably benign Het
Drosha C T 15: 12,865,153 (GRCm39) T627M probably damaging Het
Ephb3 C T 16: 21,037,268 (GRCm39) H455Y possibly damaging Het
Eri1 A C 8: 35,949,777 (GRCm39) C127G probably damaging Het
Faf1 A T 4: 109,783,153 (GRCm39) E548D probably benign Het
Gm3285 C A 10: 77,698,194 (GRCm39) C114* probably null Het
Gm9736 C T 10: 77,587,167 (GRCm39) V8I unknown Het
Gnptab A T 10: 88,276,174 (GRCm39) M1154L probably benign Het
Grin1 G A 2: 25,186,647 (GRCm39) T770M probably damaging Het
Haus1 A G 18: 77,854,570 (GRCm39) S67P possibly damaging Het
Homer1 C A 13: 93,492,562 (GRCm39) Q184K probably benign Het
Hook2 A G 8: 85,723,680 (GRCm39) T401A probably benign Het
Il6st G A 13: 112,631,907 (GRCm39) probably null Het
Kcnh8 A T 17: 53,212,038 (GRCm39) D612V probably damaging Het
Ltbr C G 6: 125,289,763 (GRCm39) E144Q probably benign Het
Mcf2l G T 8: 13,063,579 (GRCm39) R961L possibly damaging Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo1b G T 1: 51,797,160 (GRCm39) Q961K probably benign Het
Myo1h C A 5: 114,480,258 (GRCm39) T531N Het
Ngly1 G A 14: 16,283,445 (GRCm38) R408Q probably damaging Het
Nup133 T C 8: 124,632,966 (GRCm39) E1055G possibly damaging Het
Nutm2 A G 13: 50,626,934 (GRCm39) K363R probably benign Het
Obox8 A T 7: 14,066,752 (GRCm39) Y97* probably null Het
Odc1 A G 12: 17,597,319 (GRCm39) D7G probably benign Het
Ogfod2 C T 5: 124,252,558 (GRCm39) T182I unknown Het
Or2t49 A G 11: 58,393,379 (GRCm39) M7T probably benign Het
Or4c111 A T 2: 88,844,324 (GRCm39) V28E possibly damaging Het
Or8b12b T C 9: 37,684,287 (GRCm39) S111P probably damaging Het
Or8b46 G A 9: 38,450,966 (GRCm39) M258I probably benign Het
Parp4 A G 14: 56,827,430 (GRCm39) D188G probably benign Het
Phactr2 T C 10: 13,122,922 (GRCm39) E400G probably benign Het
Phlpp1 G A 1: 106,100,397 (GRCm39) V222M possibly damaging Het
Ppp1r16b T C 2: 158,603,683 (GRCm39) V536A probably damaging Het
Prex2 T C 1: 11,223,833 (GRCm39) V719A possibly damaging Het
Prpf8 C T 11: 75,381,226 (GRCm39) A242V possibly damaging Het
Prr14l A G 5: 32,986,771 (GRCm39) L908P probably damaging Het
Prrc2b A G 2: 32,117,005 (GRCm39) N2146D possibly damaging Het
Rtkn T C 6: 83,126,993 (GRCm39) V333A possibly damaging Het
Samd8 T C 14: 21,825,442 (GRCm39) Y196H probably benign Het
Six5 A G 7: 18,828,784 (GRCm39) T75A probably benign Het
Slc35a4 T A 18: 36,814,591 (GRCm39) L42H probably damaging Het
Svs3a A T 2: 164,131,933 (GRCm39) D168V probably damaging Het
Themis T A 10: 28,637,422 (GRCm39) Y175* probably null Het
Tspan33 G T 6: 29,716,783 (GRCm39) R180L probably benign Het
Ttc28 C T 5: 111,232,958 (GRCm39) S145F probably damaging Het
Txn2 G A 15: 77,810,878 (GRCm39) T102I unknown Het
Usp34 T A 11: 23,376,183 (GRCm39) V1908E Het
Vmn2r101 A G 17: 19,809,350 (GRCm39) I160V probably null Het
Vmn2r104 A T 17: 20,250,358 (GRCm39) C638S possibly damaging Het
Wdfy4 C T 14: 32,682,777 (GRCm39) R3136Q Het
Zan C A 5: 137,396,552 (GRCm39) A4335S unknown Het
Zfp180 G T 7: 23,803,958 (GRCm39) V126F probably benign Het
Zfp429 T A 13: 67,538,931 (GRCm39) D171V possibly damaging Het
Zfp638 T C 6: 83,931,708 (GRCm39) I798T 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
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
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'- AGGCGCTGATCTTGGTCTAG -3'
(R):5'- AGGTGTAAATGAGTTGCCTGCG -3'

Sequencing Primer
(F):5'- CGCTGATCTTGGTCTAGATGAAAAG -3'
(R):5'- CTGTGGATAACTGTTTAGCAAGACAC -3'
Posted On 2019-05-15