Incidental Mutation 'IGL02516:Dcaf7'
ID 296770
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 # IGL02516
Quality Score
Status
Chromosome 11
Chromosomal Location 105927698-105950150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105942698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 215 (I215N)
Ref Sequence ENSEMBL: ENSMUSP00000058168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058438]
AlphaFold P61963
Predicted Effect probably damaging
Transcript: ENSMUST00000058438
AA Change: I215N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: I215N

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: ENSMUST00000106891
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 25,388,612 (GRCm39) S364N probably damaging Het
Ano8 C T 8: 71,937,721 (GRCm39) G47D probably damaging Het
App T C 16: 84,752,305 (GRCm39) T743A probably damaging Het
Armc3 A G 2: 19,305,317 (GRCm39) K692E possibly damaging Het
Arpp21 T C 9: 112,014,729 (GRCm39) N25S probably damaging Het
Avpr1b G A 1: 131,528,367 (GRCm39) V297I probably damaging Het
Bpi A G 2: 158,109,651 (GRCm39) I200V possibly damaging Het
Cacna2d4 C T 6: 119,248,831 (GRCm39) probably benign Het
Cbarp A G 10: 79,971,379 (GRCm39) Y149H probably damaging Het
Ccdc85c T C 12: 108,241,160 (GRCm39) N78S unknown Het
Cdcp1 G T 9: 123,002,702 (GRCm39) L790M possibly damaging Het
Cdkn2d T A 9: 21,200,439 (GRCm39) I111F probably benign Het
Ctsr A G 13: 61,310,992 (GRCm39) V18A probably benign Het
Dapk1 A G 13: 60,844,161 (GRCm39) D60G probably damaging Het
Daw1 A C 1: 83,186,949 (GRCm39) N253T probably benign Het
Ddc A C 11: 11,779,125 (GRCm39) L333R probably damaging Het
Dennd1a A G 2: 37,742,406 (GRCm39) probably null Het
Dnah10 C A 5: 124,864,395 (GRCm39) T2200K probably damaging Het
Dock6 T C 9: 21,713,881 (GRCm39) Y1883C probably damaging Het
Ecpas T C 4: 58,877,102 (GRCm39) E111G probably damaging Het
Eif2ak4 T A 2: 118,266,735 (GRCm39) I752N probably damaging Het
Fcho2 A G 13: 98,866,720 (GRCm39) I740T probably benign Het
Flnc A G 6: 29,450,840 (GRCm39) D1496G probably damaging Het
Fn1 A G 1: 71,676,482 (GRCm39) V583A possibly damaging Het
Greb1l A C 18: 10,537,064 (GRCm39) T1010P probably benign Het
Hs3st6 T C 17: 24,977,105 (GRCm39) L195P probably damaging Het
Hyi A G 4: 118,219,680 (GRCm39) E239G probably damaging Het
Ighv2-3 G T 12: 113,574,818 (GRCm39) Y112* probably null Het
Ints3 A G 3: 90,310,415 (GRCm39) F495S probably damaging Het
Itih2 T A 2: 10,102,728 (GRCm39) H802L probably benign Het
Jag2 C T 12: 112,874,186 (GRCm39) V990M probably damaging Het
Kat6b T C 14: 21,659,936 (GRCm39) probably benign Het
Krtap4-8 C T 11: 99,671,168 (GRCm39) probably benign Het
Lhx4 A G 1: 155,578,003 (GRCm39) S380P probably damaging Het
Morn3 C A 5: 123,175,363 (GRCm39) E33* probably null Het
Mug2 C T 6: 122,047,802 (GRCm39) A771V probably damaging Het
N4bp3 A T 11: 51,535,161 (GRCm39) S343T probably benign Het
Nlrp1a T C 11: 71,005,286 (GRCm39) N643S probably damaging Het
Or2c1 A C 16: 3,657,200 (GRCm39) D121A probably damaging Het
Or2h1b T A 17: 37,462,163 (GRCm39) R79S possibly damaging Het
Or6c8 T A 10: 128,915,662 (GRCm39) M57L possibly damaging Het
Phc3 A G 3: 31,002,942 (GRCm39) F192S probably damaging Het
Pigq C T 17: 26,156,221 (GRCm39) R69H probably benign Het
Plk3 A G 4: 116,989,186 (GRCm39) C222R probably damaging Het
Pomt2 T C 12: 87,166,420 (GRCm39) T490A probably benign Het
Prss29 T C 17: 25,539,875 (GRCm39) I91T probably damaging Het
Ralgapb A T 2: 158,307,735 (GRCm39) probably benign Het
Sccpdh G A 1: 179,509,256 (GRCm39) G75D probably damaging Het
Serpine2 T C 1: 79,772,714 (GRCm39) probably benign Het
Sfr1 T G 19: 47,721,429 (GRCm39) probably null Het
Slc22a23 C A 13: 34,387,938 (GRCm39) C386F probably benign Het
Slc22a27 T C 19: 7,842,176 (GRCm39) K433R probably damaging Het
Slc39a12 T C 2: 14,405,146 (GRCm39) L246P probably damaging Het
Slc4a11 A G 2: 130,533,313 (GRCm39) I191T possibly damaging Het
Slc9c1 A G 16: 45,398,238 (GRCm39) N668D probably damaging Het
Supt16 A T 14: 52,421,421 (GRCm39) D41E possibly damaging Het
Tamalin G A 15: 101,126,932 (GRCm39) V137I probably damaging Het
Ugt2b37 A G 5: 87,388,741 (GRCm39) S491P probably damaging Het
Urb1 G T 16: 90,569,583 (GRCm39) T1381N possibly damaging Het
Usp8 A G 2: 126,584,094 (GRCm39) I423M probably benign Het
Vmn1r191 T A 13: 22,363,710 (GRCm39) I15F probably benign Het
Zbtb5 A T 4: 44,993,798 (GRCm39) Y529N probably damaging Het
Zfp541 T A 7: 15,816,918 (GRCm39) probably null 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
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 2015-04-16