Incidental Mutation 'IGL02516:Dcaf7'
ID296770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcaf7
Ensembl Gene ENSMUSG00000049354
Gene NameDDB1 and CUL4 associated factor 7
Synonyms1700012F10Rik, 2610037L01Rik, Wdr68
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.929) question?
Stock #IGL02516
Quality Score
Status
Chromosome11
Chromosomal Location106036872-106059324 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 106051872 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 215 (I215N)
Ref Sequence ENSEMBL: ENSMUSP00000058168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058438]
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: 24,898,596 S364N probably damaging Het
AI314180 T C 4: 58,877,102 E111G probably damaging Het
Ano8 C T 8: 71,485,077 G47D probably damaging Het
App T C 16: 84,955,417 T743A probably damaging Het
Armc3 A G 2: 19,300,506 K692E possibly damaging Het
Arpp21 T C 9: 112,185,661 N25S probably damaging Het
Avpr1b G A 1: 131,600,629 V297I probably damaging Het
Bpi A G 2: 158,267,731 I200V possibly damaging Het
Cacna2d4 C T 6: 119,271,870 probably benign Het
Cbarp A G 10: 80,135,545 Y149H probably damaging Het
Ccdc85c T C 12: 108,274,901 N78S unknown Het
Cdcp1 G T 9: 123,173,637 L790M possibly damaging Het
Cdkn2d T A 9: 21,289,143 I111F probably benign Het
Ctsr A G 13: 61,163,178 V18A probably benign Het
Dapk1 A G 13: 60,696,347 D60G probably damaging Het
Daw1 A C 1: 83,209,228 N253T probably benign Het
Ddc A C 11: 11,829,125 L333R probably damaging Het
Dennd1a A G 2: 37,852,394 probably null Het
Dnah10 C A 5: 124,787,331 T2200K probably damaging Het
Dock6 T C 9: 21,802,585 Y1883C probably damaging Het
Eif2ak4 T A 2: 118,436,254 I752N probably damaging Het
Fcho2 A G 13: 98,730,212 I740T probably benign Het
Flnc A G 6: 29,450,841 D1496G probably damaging Het
Fn1 A G 1: 71,637,323 V583A possibly damaging Het
Grasp G A 15: 101,229,051 V137I probably damaging Het
Greb1l A C 18: 10,537,064 T1010P probably benign Het
Hs3st6 T C 17: 24,758,131 L195P probably damaging Het
Hyi A G 4: 118,362,483 E239G probably damaging Het
Ighv2-3 G T 12: 113,611,198 Y112* probably null Het
Ints3 A G 3: 90,403,108 F495S probably damaging Het
Itih2 T A 2: 10,097,917 H802L probably benign Het
Jag2 C T 12: 112,910,566 V990M probably damaging Het
Kat6b T C 14: 21,609,868 probably benign Het
Krtap4-8 C T 11: 99,780,342 probably benign Het
Lhx4 A G 1: 155,702,257 S380P probably damaging Het
Morn3 C A 5: 123,037,300 E33* probably null Het
Mug2 C T 6: 122,070,843 A771V probably damaging Het
N4bp3 A T 11: 51,644,334 S343T probably benign Het
Nlrp1a T C 11: 71,114,460 N643S probably damaging Het
Olfr15 A C 16: 3,839,336 D121A probably damaging Het
Olfr767 T A 10: 129,079,793 M57L possibly damaging Het
Olfr93 T A 17: 37,151,272 R79S possibly damaging Het
Phc3 A G 3: 30,948,793 F192S probably damaging Het
Pigq C T 17: 25,937,247 R69H probably benign Het
Plk3 A G 4: 117,131,989 C222R probably damaging Het
Pomt2 T C 12: 87,119,646 T490A probably benign Het
Prss29 T C 17: 25,320,901 I91T probably damaging Het
Ralgapb A T 2: 158,465,815 probably benign Het
Sccpdh G A 1: 179,681,691 G75D probably damaging Het
Serpine2 T C 1: 79,794,997 probably benign Het
Sfr1 T G 19: 47,732,990 probably null Het
Slc22a23 C A 13: 34,203,955 C386F probably benign Het
Slc22a27 T C 19: 7,864,811 K433R probably damaging Het
Slc39a12 T C 2: 14,400,335 L246P probably damaging Het
Slc4a11 A G 2: 130,691,393 I191T possibly damaging Het
Slc9c1 A G 16: 45,577,875 N668D probably damaging Het
Supt16 A T 14: 52,183,964 D41E possibly damaging Het
Ugt2b37 A G 5: 87,240,882 S491P probably damaging Het
Urb1 G T 16: 90,772,695 T1381N possibly damaging Het
Usp8 A G 2: 126,742,174 I423M probably benign Het
Vmn1r191 T A 13: 22,179,540 I15F probably benign Het
Zbtb5 A T 4: 44,993,798 Y529N probably damaging Het
Zfp541 T A 7: 16,082,993 probably null Het
Other mutations in Dcaf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Dcaf7 APN 11 106054746 missense probably damaging 1.00
IGL01584:Dcaf7 APN 11 106053827 missense probably benign 0.12
IGL02398:Dcaf7 APN 11 106053753 missense probably benign 0.03
IGL02672:Dcaf7 APN 11 106054858 utr 3 prime probably benign
IGL02892:Dcaf7 APN 11 106046692 missense possibly damaging 0.95
IGL02953:Dcaf7 APN 11 106051876 nonsense probably null
R0179:Dcaf7 UTSW 11 106051797 missense probably damaging 0.98
R0539:Dcaf7 UTSW 11 106051826 missense probably damaging 0.98
R1471:Dcaf7 UTSW 11 106046747 missense probably benign 0.01
R1647:Dcaf7 UTSW 11 106051802 missense probably damaging 1.00
R1648:Dcaf7 UTSW 11 106051802 missense probably damaging 1.00
R3551:Dcaf7 UTSW 11 106054796 missense probably benign 0.00
R4656:Dcaf7 UTSW 11 106053798 missense probably damaging 1.00
R6167:Dcaf7 UTSW 11 106037251 missense probably damaging 0.99
R6192:Dcaf7 UTSW 11 106051758 missense probably damaging 1.00
R6782:Dcaf7 UTSW 11 106054755 missense probably damaging 1.00
R6864:Dcaf7 UTSW 11 106046821 missense probably damaging 1.00
Posted On2015-04-16