Incidental Mutation 'R8109:Dcaf7'
ID 643879
Institutional Source Beutler Lab
Gene Symbol Dcaf7
Ensembl Gene ENSMUSG00000049354
Gene Name DDB1 and CUL4 associated factor 7
Synonyms 2610037L01Rik, Wdr68, 1700012F10Rik
MMRRC Submission 067538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8109 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 105927698-105950150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105937604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 76 (W76R)
Ref Sequence ENSEMBL: ENSMUSP00000058168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058438]
AlphaFold P61963
Predicted Effect probably damaging
Transcript: ENSMUST00000058438
AA Change: W76R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: W76R

DomainStartEndE-ValueType
WD40 58 99 3.42e1 SMART
WD40 104 149 1.43e1 SMART
WD40 163 205 3.81e-5 SMART
WD40 211 251 1.1e2 SMART
WD40 255 295 8.88e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,767,284 (GRCm39) V130A probably benign Het
Acte1 C T 7: 143,451,203 (GRCm39) probably null Het
Adamts12 A C 15: 11,331,877 (GRCm39) K1465T probably benign Het
Adamtsl1 T C 4: 86,166,306 (GRCm39) V223A Het
Adamtsl3 T A 7: 82,251,487 (GRCm39) I1494N possibly damaging Het
Ank3 T C 10: 69,826,148 (GRCm39) Y1606H Het
Arhgap32 A G 9: 32,093,150 (GRCm39) I168V probably benign Het
Atxn7l2 G A 3: 108,110,617 (GRCm39) R675C probably damaging Het
Brcc3dc A G 10: 108,535,520 (GRCm39) M145T probably damaging Het
Bst2 A T 8: 71,989,990 (GRCm39) W28R probably damaging Het
Cadps T A 14: 12,488,975 (GRCm38) T861S probably benign Het
Ceacam11 A G 7: 17,709,243 (GRCm39) Y147C probably benign Het
Clasp2 T A 9: 113,740,588 (GRCm39) N1187K probably damaging Het
Ephb1 G A 9: 101,918,222 (GRCm39) T429I probably damaging Het
Flg A T 3: 93,197,734 (GRCm39) Q21L unknown Het
Flrt2 T C 12: 95,747,333 (GRCm39) V557A probably benign Het
Gdpgp1 T C 7: 79,888,581 (GRCm39) V204A probably damaging Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Jph2 T C 2: 163,181,206 (GRCm39) K653E probably benign Het
Kmt2c T C 5: 25,486,382 (GRCm39) S4724G probably damaging Het
Llgl2 T C 11: 115,741,619 (GRCm39) V583A possibly damaging Het
Met T C 6: 17,562,236 (GRCm39) V1199A probably damaging Het
Mmp25 A G 17: 23,863,768 (GRCm39) W21R probably benign Het
Nsun4 A T 4: 115,909,040 (GRCm39) C507S probably benign Het
Or1j19 T A 2: 36,676,618 (GRCm39) M27K probably benign Het
Pard6g T C 18: 80,160,658 (GRCm39) V257A possibly damaging Het
Pcdh1 A G 18: 38,332,049 (GRCm39) V457A probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Plpp6 T A 19: 28,941,891 (GRCm39) M164K possibly damaging Het
Rhobtb2 C A 14: 70,038,080 (GRCm39) R60L probably damaging Het
Rsph10b A C 5: 143,922,348 (GRCm39) I845L probably benign Het
Sdf4 C T 4: 156,094,295 (GRCm39) A325V probably damaging Het
Slc4a3 A G 1: 75,528,448 (GRCm39) D481G possibly damaging Het
Smo A G 6: 29,755,522 (GRCm39) Y398C probably damaging Het
Sox18 A G 2: 181,313,293 (GRCm39) Y8H possibly damaging Het
Sycp1 A T 3: 102,758,918 (GRCm39) S780T probably benign Het
Tdg T A 10: 82,480,353 (GRCm39) V239E probably damaging Het
Tenm2 T C 11: 35,899,137 (GRCm39) T2675A probably benign Het
Thrap3 C A 4: 126,080,273 (GRCm39) R31L unknown Het
Tinagl1 T A 4: 130,063,123 (GRCm39) I149F probably damaging Het
Tnc A G 4: 63,927,000 (GRCm39) V842A probably benign Het
Tpm3-rs7 A G 14: 113,552,772 (GRCm39) D222G probably benign Het
Ube4a T C 9: 44,846,781 (GRCm39) I773V probably benign Het
Vmn1r229 T C 17: 21,035,268 (GRCm39) V171A probably benign Het
Zc3hav1 T C 6: 38,306,114 (GRCm39) E646G probably damaging Het
Zfp341 A T 2: 154,469,820 (GRCm39) M168L probably benign Het
Zfp874a A C 13: 67,597,563 (GRCm39) D13E possibly damaging Het
Other mutations in Dcaf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Dcaf7 APN 11 105,945,572 (GRCm39) missense probably damaging 1.00
IGL01584:Dcaf7 APN 11 105,944,653 (GRCm39) missense probably benign 0.12
IGL02398:Dcaf7 APN 11 105,944,579 (GRCm39) missense probably benign 0.03
IGL02516:Dcaf7 APN 11 105,942,698 (GRCm39) missense probably damaging 1.00
IGL02672:Dcaf7 APN 11 105,945,684 (GRCm39) utr 3 prime probably benign
IGL02892:Dcaf7 APN 11 105,937,518 (GRCm39) missense possibly damaging 0.95
IGL02953:Dcaf7 APN 11 105,942,702 (GRCm39) nonsense probably null
Camomile UTSW 11 105,945,548 (GRCm39) missense possibly damaging 0.93
Nescafe UTSW 11 105,942,623 (GRCm39) missense probably damaging 0.98
R0179:Dcaf7 UTSW 11 105,942,623 (GRCm39) missense probably damaging 0.98
R0539:Dcaf7 UTSW 11 105,942,652 (GRCm39) missense probably damaging 0.98
R1471:Dcaf7 UTSW 11 105,937,573 (GRCm39) missense probably benign 0.01
R1647:Dcaf7 UTSW 11 105,942,628 (GRCm39) missense probably damaging 1.00
R1648:Dcaf7 UTSW 11 105,942,628 (GRCm39) missense probably damaging 1.00
R3551:Dcaf7 UTSW 11 105,945,622 (GRCm39) missense probably benign 0.00
R4656:Dcaf7 UTSW 11 105,944,624 (GRCm39) missense probably damaging 1.00
R6167:Dcaf7 UTSW 11 105,928,077 (GRCm39) missense probably damaging 0.99
R6192:Dcaf7 UTSW 11 105,942,584 (GRCm39) missense probably damaging 1.00
R6782:Dcaf7 UTSW 11 105,945,581 (GRCm39) missense probably damaging 1.00
R6864:Dcaf7 UTSW 11 105,937,647 (GRCm39) missense probably damaging 1.00
R7155:Dcaf7 UTSW 11 105,928,016 (GRCm39) missense probably damaging 0.97
R7253:Dcaf7 UTSW 11 105,938,669 (GRCm39) splice site probably null
R7446:Dcaf7 UTSW 11 105,944,561 (GRCm39) missense probably benign 0.04
R7631:Dcaf7 UTSW 11 105,944,579 (GRCm39) missense probably benign 0.03
R8480:Dcaf7 UTSW 11 105,945,619 (GRCm39) missense probably benign 0.00
R8489:Dcaf7 UTSW 11 105,942,743 (GRCm39) missense probably damaging 1.00
R8731:Dcaf7 UTSW 11 105,945,548 (GRCm39) missense possibly damaging 0.93
R8927:Dcaf7 UTSW 11 105,942,752 (GRCm39) missense probably damaging 1.00
R8928:Dcaf7 UTSW 11 105,942,752 (GRCm39) missense probably damaging 1.00
R9625:Dcaf7 UTSW 11 105,942,794 (GRCm39) critical splice donor site probably null
Z1177:Dcaf7 UTSW 11 105,944,621 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CACTCAGTGTAGTCGTGTCAAGAC -3'
(R):5'- AACAAGGTCAGTCCACAGGC -3'

Sequencing Primer
(F):5'- GACTGACCAGAAATCTGATGTGTTTG -3'
(R):5'- CTTCTTCCATGTGGCAGTGATACTAG -3'
Posted On 2020-09-02