Incidental Mutation 'R5779:Dcaf5'
ID 446891
Institutional Source Beutler Lab
Gene Symbol Dcaf5
Ensembl Gene ENSMUSG00000049106
Gene Name DDB1 and CUL4 associated factor 5
Synonyms BCRP2, Wdr22, 9430020B07Rik, BCRG2
MMRRC Submission 043377-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.683) question?
Stock # R5779 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 80382622-80483375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80385606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 840 (R840H)
Ref Sequence ENSEMBL: ENSMUSP00000052755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054145]
AlphaFold Q80T85
Predicted Effect probably benign
Transcript: ENSMUST00000054145
AA Change: R840H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052755
Gene: ENSMUSG00000049106
AA Change: R840H

DomainStartEndE-ValueType
WD40 42 82 3.32e-5 SMART
WD40 90 129 1.95e-2 SMART
WD40 132 171 1.28e-6 SMART
WD40 179 216 2.65e1 SMART
low complexity region 248 255 N/A INTRINSIC
WD40 264 308 1.66e0 SMART
WD40 322 361 2.01e-4 SMART
low complexity region 431 441 N/A INTRINSIC
low complexity region 506 518 N/A INTRINSIC
low complexity region 548 573 N/A INTRINSIC
low complexity region 623 638 N/A INTRINSIC
low complexity region 793 807 N/A INTRINSIC
low complexity region 929 941 N/A INTRINSIC
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,075,496 (GRCm39) M1332V probably benign Het
Acsbg3 A T 17: 57,188,061 (GRCm39) N190Y probably benign Het
Afg3l2 T C 18: 67,573,513 (GRCm39) K132R probably null Het
Antkmt A G 17: 26,009,631 (GRCm39) V194A probably benign Het
Arap3 T C 18: 38,117,418 (GRCm39) D886G probably damaging Het
B3gntl1 G T 11: 121,542,502 (GRCm39) probably null Het
Cdk12 T A 11: 98,109,900 (GRCm39) S640R probably benign Het
Ceacam12 C A 7: 17,803,079 (GRCm39) P162T probably benign Het
Chrna5 C A 9: 54,905,388 (GRCm39) H67N probably benign Het
Copb1 T A 7: 113,818,807 (GRCm39) D837V probably damaging Het
Ect2l T A 10: 18,039,186 (GRCm39) Q324L probably benign Het
Eef1e1 T C 13: 38,830,249 (GRCm39) N141S probably damaging Het
Eif2ak4 A C 2: 118,243,444 (GRCm39) N208T possibly damaging Het
Ext1 A G 15: 53,207,949 (GRCm39) Y271H probably damaging Het
Fbxo5 G A 10: 5,750,303 (GRCm39) R323C possibly damaging Het
Fpr-rs3 C A 17: 20,844,488 (GRCm39) A218S possibly damaging Het
Gm20499 G A 5: 114,955,082 (GRCm39) probably benign Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Gucy1b2 C A 14: 62,651,750 (GRCm39) L400F possibly damaging Het
Hgd T A 16: 37,413,733 (GRCm39) L24H probably benign Het
Hmx3 C A 7: 131,146,057 (GRCm39) S255* probably null Het
Ifrd1 A T 12: 40,253,369 (GRCm39) F448I probably damaging Het
Igfn1 T A 1: 135,894,578 (GRCm39) E1996V probably benign Het
Itpr1 G A 6: 108,329,104 (GRCm39) G173R probably damaging Het
Kbtbd8 T C 6: 95,095,515 (GRCm39) S26P probably benign Het
Kctd17 A T 15: 78,321,333 (GRCm39) probably benign Het
Matr3 T C 18: 35,717,575 (GRCm39) S258P possibly damaging Het
Mpp4 G A 1: 59,190,825 (GRCm39) A90V probably benign Het
Mrpl20 G A 4: 155,891,378 (GRCm39) R34Q probably damaging Het
Neb A T 2: 52,135,313 (GRCm39) S3266T probably damaging Het
Nipal3 A G 4: 135,179,650 (GRCm39) probably benign Het
Npas2 A T 1: 39,326,652 (GRCm39) T46S possibly damaging Het
Nsd3 G T 8: 26,172,685 (GRCm39) E815* probably null Het
Nup98 C A 7: 101,801,568 (GRCm39) V786L probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Pcdhb3 T C 18: 37,434,520 (GRCm39) V162A probably benign Het
Pcgf2 G A 11: 97,581,117 (GRCm39) P58L probably damaging Het
Penk A G 4: 4,134,318 (GRCm39) F110L probably damaging Het
Relch T G 1: 105,615,072 (GRCm39) N246K probably damaging Het
Scfd1 A G 12: 51,478,312 (GRCm39) N508S probably benign Het
Scn2a T C 2: 65,594,827 (GRCm39) V1892A probably benign Het
Sema6a G A 18: 47,381,893 (GRCm39) R885C probably damaging Het
Sik2 T C 9: 50,807,145 (GRCm39) H755R probably benign Het
Slc36a3 A T 11: 55,026,094 (GRCm39) Y241* probably null Het
Smg5 T C 3: 88,258,925 (GRCm39) probably benign Het
Spag9 A G 11: 94,005,079 (GRCm39) T1049A probably benign Het
Tas2r103 T C 6: 133,013,908 (GRCm39) M53V probably benign Het
Tpr C T 1: 150,299,292 (GRCm39) A1090V probably damaging Het
Traf5 T A 1: 191,729,633 (GRCm39) R473W probably damaging Het
Ush2a T C 1: 188,175,707 (GRCm39) probably null Het
Vit A G 17: 78,853,855 (GRCm39) T34A probably benign Het
Other mutations in Dcaf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Dcaf5 APN 12 80,386,097 (GRCm39) missense probably benign 0.01
IGL00990:Dcaf5 APN 12 80,385,606 (GRCm39) missense probably benign
IGL01788:Dcaf5 APN 12 80,395,098 (GRCm39) missense probably damaging 1.00
IGL01865:Dcaf5 APN 12 80,386,088 (GRCm39) missense probably benign 0.36
IGL02365:Dcaf5 APN 12 80,445,547 (GRCm39) missense probably benign 0.01
R1160:Dcaf5 UTSW 12 80,386,989 (GRCm39) missense possibly damaging 0.83
R1443:Dcaf5 UTSW 12 80,410,843 (GRCm39) missense probably damaging 1.00
R1804:Dcaf5 UTSW 12 80,386,603 (GRCm39) missense probably benign 0.19
R1945:Dcaf5 UTSW 12 80,385,468 (GRCm39) missense probably benign 0.12
R2043:Dcaf5 UTSW 12 80,386,991 (GRCm39) missense probably benign 0.03
R2104:Dcaf5 UTSW 12 80,385,635 (GRCm39) missense probably benign 0.00
R4831:Dcaf5 UTSW 12 80,385,858 (GRCm39) missense probably benign 0.00
R4860:Dcaf5 UTSW 12 80,387,006 (GRCm39) missense probably benign 0.06
R4860:Dcaf5 UTSW 12 80,387,006 (GRCm39) missense probably benign 0.06
R5257:Dcaf5 UTSW 12 80,444,493 (GRCm39) missense probably damaging 1.00
R5263:Dcaf5 UTSW 12 80,395,120 (GRCm39) missense probably damaging 1.00
R5569:Dcaf5 UTSW 12 80,386,975 (GRCm39) missense probably damaging 1.00
R5597:Dcaf5 UTSW 12 80,386,817 (GRCm39) missense probably damaging 0.99
R5632:Dcaf5 UTSW 12 80,444,526 (GRCm39) missense probably damaging 0.98
R5833:Dcaf5 UTSW 12 80,395,203 (GRCm39) missense probably damaging 0.98
R6794:Dcaf5 UTSW 12 80,445,667 (GRCm39) missense possibly damaging 0.66
R7188:Dcaf5 UTSW 12 80,446,732 (GRCm39) missense probably damaging 1.00
R7238:Dcaf5 UTSW 12 80,385,483 (GRCm39) missense probably benign 0.27
R7286:Dcaf5 UTSW 12 80,395,164 (GRCm39) missense probably damaging 1.00
R7524:Dcaf5 UTSW 12 80,423,470 (GRCm39) missense probably benign 0.09
R8679:Dcaf5 UTSW 12 80,385,807 (GRCm39) missense probably benign 0.00
R9248:Dcaf5 UTSW 12 80,386,563 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- AACAACCTTGCTGCTGTCCAG -3'
(R):5'- TCAATGGAAAGGCTCTGAGC -3'

Sequencing Primer
(F):5'- TGCTGTCCAGGCCTGAAG -3'
(R):5'- TCTGAGCAAGGCCCTGAG -3'
Posted On 2016-12-15