Incidental Mutation 'R0513:Cfap20dc'
ID 48047
Institutional Source Beutler Lab
Gene Symbol Cfap20dc
Ensembl Gene ENSMUSG00000021747
Gene Name CFAP20 domain containing
Synonyms 4930452B06Rik
MMRRC Submission 038707-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0513 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 13803533-14038581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 8536609 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 199 (D199E)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
AlphaFold Q6P2K3
Predicted Effect probably damaging
Transcript: ENSMUST00000102996
AA Change: D199E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: D199E

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 0.0776 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 92.9%
Validation Efficiency 99% (122/123)
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,606,195 (GRCm39) T146A probably benign Het
Abcg4 A G 9: 44,192,984 (GRCm39) S121P possibly damaging Het
Actr2 T C 11: 20,030,124 (GRCm39) T212A probably damaging Het
Adcy10 T A 1: 165,347,088 (GRCm39) D368E probably benign Het
Albfm1 A T 5: 90,725,786 (GRCm39) T333S probably benign Het
Anapc15 T C 7: 101,547,747 (GRCm39) probably benign Het
Aox4 A G 1: 58,256,678 (GRCm39) R67G probably benign Het
Aox4 A G 1: 58,286,459 (GRCm39) D697G probably damaging Het
Arhgap42 A T 9: 9,005,766 (GRCm39) S755T probably benign Het
Atm A G 9: 53,415,248 (GRCm39) V881A probably benign Het
Cdkal1 C T 13: 29,809,948 (GRCm39) probably benign Het
Cfap61 C A 2: 145,877,215 (GRCm39) N491K possibly damaging Het
Chgb T C 2: 132,627,897 (GRCm39) probably benign Het
Chrna1 C A 2: 73,398,426 (GRCm39) probably benign Het
Chst10 A G 1: 38,904,844 (GRCm39) L283P probably damaging Het
Clca3a1 A G 3: 144,466,323 (GRCm39) probably null Het
Crppa A T 12: 36,440,467 (GRCm39) H125L probably damaging Het
Cryzl1 G T 16: 91,496,175 (GRCm39) A1E possibly damaging Het
Csnk1a1 T C 18: 61,709,618 (GRCm39) Y213H probably damaging Het
Cspg4 A G 9: 56,805,375 (GRCm39) Q2062R probably benign Het
Ctnnal1 A G 4: 56,835,348 (GRCm39) C310R probably benign Het
D630003M21Rik T C 2: 158,042,228 (GRCm39) E906G probably benign Het
D930048N14Rik T C 11: 51,545,755 (GRCm39) probably benign Het
Dag1 G A 9: 108,085,684 (GRCm39) P486S possibly damaging Het
Dgkq A G 5: 108,804,361 (GRCm39) L33P probably benign Het
Dlc1 C T 8: 37,051,164 (GRCm39) G856R probably damaging Het
Dst T A 1: 34,258,612 (GRCm39) probably benign Het
Dtl A T 1: 191,301,819 (GRCm39) Y79* probably null Het
Egfr T G 11: 16,822,855 (GRCm39) L406R probably damaging Het
Elp3 A T 14: 65,800,695 (GRCm39) probably null Het
Fbxw19 C A 9: 109,310,621 (GRCm39) probably null Het
Frs2 T C 10: 116,910,570 (GRCm39) E264G possibly damaging Het
Fscn2 G T 11: 120,252,706 (GRCm39) V58L probably damaging Het
Gm17324 G A 9: 78,356,007 (GRCm39) probably benign Het
Gm4787 A T 12: 81,425,086 (GRCm39) N357K probably benign Het
Gm9956 G T 10: 56,621,291 (GRCm39) Het
Gsg1l C T 7: 125,619,795 (GRCm39) probably null Het
Herc1 G A 9: 66,352,927 (GRCm39) V2138M possibly damaging Het
Htr2a T C 14: 74,943,764 (GRCm39) L448P probably benign Het
Ing3 C T 6: 21,970,034 (GRCm39) S255L probably damaging Het
Krt78 T C 15: 101,859,384 (GRCm39) D271G probably damaging Het
Lmbrd2 T A 15: 9,194,816 (GRCm39) L606H probably damaging Het
Lmod1 T A 1: 135,252,906 (GRCm39) N53K probably damaging Het
Lsr G C 7: 30,657,763 (GRCm39) A467G probably benign Het
Mbtd1 T A 11: 93,823,038 (GRCm39) probably null Het
Mill1 T A 7: 17,998,802 (GRCm39) Y337* probably null Het
Mlxipl A T 5: 135,166,117 (GRCm39) Q833L probably benign Het
Mon2 C T 10: 122,874,515 (GRCm39) V278M probably damaging Het
Mxra8 A C 4: 155,926,190 (GRCm39) M180L probably benign Het
Myo18a A T 11: 77,702,420 (GRCm39) probably benign Het
Myo1c T G 11: 75,556,657 (GRCm39) probably null Het
Myo1g T C 11: 6,460,203 (GRCm39) T782A probably benign Het
Ncapd3 A G 9: 26,975,401 (GRCm39) probably benign Het
Neb T C 2: 52,198,699 (GRCm39) D414G probably damaging Het
Nedd4l T A 18: 65,328,256 (GRCm39) probably benign Het
Nf2 T C 11: 4,741,185 (GRCm39) K343R possibly damaging Het
Nfasc A T 1: 132,531,584 (GRCm39) D733E possibly damaging Het
Nolc1 G A 19: 46,072,598 (GRCm39) D699N probably damaging Het
Nrbp2 C T 15: 75,960,825 (GRCm39) A45T probably benign Het
Obscn A G 11: 58,952,348 (GRCm39) V3907A possibly damaging Het
Or2b6 A T 13: 21,823,119 (GRCm39) D191E probably benign Het
Or2y6 T C 11: 52,104,576 (GRCm39) Q80R possibly damaging Het
Or8b8 A T 9: 37,809,351 (GRCm39) Y217F probably damaging Het
Pank2 C T 2: 131,124,526 (GRCm39) T290I probably damaging Het
Pbx4 T C 8: 70,317,529 (GRCm39) V171A probably benign Het
Pcgf1 G T 6: 83,057,555 (GRCm39) V75F probably damaging Het
Pik3ca T C 3: 32,515,660 (GRCm39) S778P probably damaging Het
Pld6 T C 11: 59,676,047 (GRCm39) I141M probably damaging Het
Polq T A 16: 36,914,864 (GRCm39) V2508E probably damaging Het
Prkca C G 11: 107,905,202 (GRCm39) D179H possibly damaging Het
Pspn T C 17: 57,306,720 (GRCm39) S70G probably damaging Het
Ptchd4 C T 17: 42,814,637 (GRCm39) T846I probably benign Het
Reg3g A C 6: 78,444,827 (GRCm39) Y50* probably null Het
Rev3l C T 10: 39,704,139 (GRCm39) H2062Y probably benign Het
Rsph4a C T 10: 33,788,987 (GRCm39) Q611* probably null Het
Scart1 C A 7: 139,804,873 (GRCm39) C625* probably null Het
Scgb1b20 G A 7: 33,072,739 (GRCm39) probably null Het
Sfxn5 T C 6: 85,246,955 (GRCm39) probably benign Het
Sh3tc1 T A 5: 35,857,651 (GRCm39) Q1179L possibly damaging Het
Skint11 A G 4: 114,051,762 (GRCm39) I37V probably benign Het
Slc35f5 T C 1: 125,503,906 (GRCm39) probably benign Het
Slc8a2 A C 7: 15,891,264 (GRCm39) D768A probably damaging Het
Slco6b1 A G 1: 96,924,909 (GRCm39) noncoding transcript Het
Smurf2 T A 11: 106,726,931 (GRCm39) T453S probably benign Het
Spag16 A G 1: 70,532,927 (GRCm39) probably benign Het
Spindoc G A 19: 7,351,509 (GRCm39) T205I probably benign Het
Stab1 T C 14: 30,870,902 (GRCm39) I1316V probably benign Het
Stox2 T C 8: 47,646,900 (GRCm39) R187G probably damaging Het
Tcea2 A C 2: 181,326,274 (GRCm39) T93P probably benign Het
Tenm4 T C 7: 96,544,830 (GRCm39) M2311T probably benign Het
Tmem63a A G 1: 180,788,026 (GRCm39) Q260R probably benign Het
Tnpo2 A T 8: 85,780,158 (GRCm39) H698L probably benign Het
Trim33 A G 3: 103,217,700 (GRCm39) D215G probably damaging Het
Ttc3 T A 16: 94,227,071 (GRCm39) I727N probably damaging Het
Ttn T A 2: 76,773,669 (GRCm39) K2271N probably damaging Het
Ubr2 T A 17: 47,297,705 (GRCm39) K223* probably null Het
Ubr4 A G 4: 139,144,186 (GRCm39) M1410V possibly damaging Het
Ugt2b35 T C 5: 87,151,271 (GRCm39) probably benign Het
Ulk4 T A 9: 120,981,391 (GRCm39) H880L probably benign Het
Unc80 G A 1: 66,661,633 (GRCm39) C1686Y possibly damaging Het
Upf2 T A 2: 5,962,478 (GRCm39) L60Q unknown Het
Usf2 A T 7: 30,654,161 (GRCm39) probably benign Het
Usp21 T A 1: 171,110,586 (GRCm39) probably benign Het
Usp21 T A 1: 171,110,588 (GRCm39) probably benign Het
Vmn2r118 T A 17: 55,917,970 (GRCm39) K181* probably null Het
Vmn2r124 T A 17: 18,293,991 (GRCm39) S693T possibly damaging Het
Vmn2r76 C A 7: 85,877,987 (GRCm39) G470V probably benign Het
Vps13c A C 9: 67,838,017 (GRCm39) I1856L probably benign Het
Vps50 C T 6: 3,520,210 (GRCm39) L119F probably damaging Het
Wdfy3 T A 5: 102,038,655 (GRCm39) S2012C probably damaging Het
Zfp1008 A C 13: 62,753,029 (GRCm39) V99G possibly damaging Het
Zfp142 A G 1: 74,610,714 (GRCm39) V924A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp235 T C 7: 23,841,644 (GRCm39) S688P probably damaging Het
Zfp39 C T 11: 58,780,813 (GRCm39) V650I probably benign Het
Zfp82 A T 7: 29,756,265 (GRCm39) N272K probably damaging Het
Zfyve21 A C 12: 111,789,698 (GRCm39) D54A possibly damaging Het
Zfyve26 C T 12: 79,291,258 (GRCm39) D2116N 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
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
Predicted Primers PCR Primer
(F):5'- TGGCATTGACCTGCGCTAAATCC -3'
(R):5'- CGTTGTCCACAGTTGCACTGTAAAC -3'

Sequencing Primer
(F):5'- GCTAAATCCTGGCCTTGTATATTGAG -3'
(R):5'- CACAGTTGCACTGTAAACTGTTTTG -3'
Posted On 2013-06-12