Incidental Mutation 'IGL01481:Dcaf7'
ID 88628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcaf7
Ensembl Gene ENSMUSG00000049354
Gene Name DDB1 and CUL4 associated factor 7
Synonyms 2610037L01Rik, Wdr68, 1700012F10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01481
Quality Score
Status
Chromosome 11
Chromosomal Location 105927698-105950150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105945572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 307 (I307N)
Ref Sequence ENSEMBL: ENSMUSP00000058168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058438]
AlphaFold P61963
Predicted Effect probably damaging
Transcript: ENSMUST00000058438
AA Change: I307N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: I307N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135857
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,910,079 (GRCm39) S523C probably damaging Het
Apaf1 A T 10: 90,867,450 (GRCm39) D798E possibly damaging Het
Arhgef7 G T 8: 11,865,256 (GRCm39) V410L probably benign Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Cldn17 A G 16: 88,303,471 (GRCm39) V86A probably benign Het
Clec4a2 A G 6: 123,119,459 (GRCm39) N237S probably benign Het
Cmtr1 T G 17: 29,917,631 (GRCm39) I654S probably benign Het
Cryzl2 G A 1: 157,298,309 (GRCm39) probably null Het
Ctif A G 18: 75,744,855 (GRCm39) probably benign Het
Drosha A T 15: 12,842,525 (GRCm39) T399S probably benign Het
Eef2k A T 7: 120,494,441 (GRCm39) Y35F probably benign Het
Emc1 T C 4: 139,089,410 (GRCm39) S193P probably benign Het
Fpr2 T C 17: 18,113,025 (GRCm39) I7T probably benign Het
Fras1 C A 5: 96,805,100 (GRCm39) N1247K probably damaging Het
Gipr T C 7: 18,893,431 (GRCm39) probably benign Het
Heatr5a C T 12: 52,002,208 (GRCm39) G243S probably damaging Het
Hivep2 G A 10: 14,024,981 (GRCm39) R2265Q probably benign Het
Iars1 T C 13: 49,882,174 (GRCm39) S1073P probably benign Het
Inpp4b T C 8: 82,724,009 (GRCm39) S514P probably damaging Het
Inpp5b T A 4: 124,694,492 (GRCm39) probably null Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Itih5 A C 2: 10,195,100 (GRCm39) Q164P probably damaging Het
Map3k19 T A 1: 127,750,215 (GRCm39) E1045D probably damaging Het
Mbd5 T C 2: 49,168,951 (GRCm39) V1374A possibly damaging Het
Mrps34 T C 17: 25,116,310 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,321 (GRCm39) D191G probably damaging Het
Nlrc3 T G 16: 3,781,769 (GRCm39) N563H probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10g6 T C 9: 39,934,574 (GRCm39) M295T possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4a79 A G 2: 89,551,870 (GRCm39) L195P probably damaging Het
Or52u1 C A 7: 104,237,067 (GRCm39) P36T probably damaging Het
Pdgfd C A 9: 6,337,271 (GRCm39) T195K probably null Het
Ptprz1 C A 6: 22,999,979 (GRCm39) Q690K probably benign Het
Scfd1 T A 12: 51,430,903 (GRCm39) M23K probably damaging Het
Scn10a G A 9: 119,438,260 (GRCm39) R1869C probably damaging Het
Scp2 T C 4: 107,931,639 (GRCm39) probably null Het
Sec61a1 A G 6: 88,483,829 (GRCm39) V354A probably benign Het
Sgpp1 T C 12: 75,769,431 (GRCm39) I246V probably benign Het
Slco2a1 G T 9: 102,947,450 (GRCm39) D250Y probably damaging Het
Slit2 A G 5: 48,460,273 (GRCm39) N1435D probably benign Het
Sspo A G 6: 48,425,449 (GRCm39) I23M probably benign Het
Steap4 A T 5: 8,026,858 (GRCm39) T274S probably damaging Het
Tbc1d22b T C 17: 29,787,572 (GRCm39) L107P possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem45a2 T A 16: 56,867,375 (GRCm39) I109F probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tox T A 4: 6,842,396 (GRCm39) T45S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wdr7 G A 18: 63,872,250 (GRCm39) D395N probably damaging Het
Other mutations in Dcaf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8109:Dcaf7 UTSW 11 105,937,604 (GRCm39) missense probably damaging 0.98
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
Posted On 2013-11-18