Incidental Mutation 'IGL02892:Dcaf7'
ID363222
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 #IGL02892
Quality Score
Status
Chromosome11
Chromosomal Location106036872-106059324 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106046692 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 47 (V47A)
Ref Sequence ENSEMBL: ENSMUSP00000058168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058438]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058438
AA Change: V47A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: V47A

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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,604,997 L493* probably null Het
Adam32 T A 8: 24,878,711 probably benign Het
Alpk1 T C 3: 127,680,122 D744G possibly damaging Het
Arhgef12 A G 9: 43,000,972 V530A possibly damaging Het
Baz2b A T 2: 59,900,736 N2095K probably damaging Het
Btnl2 A T 17: 34,362,668 Q240L possibly damaging Het
Cd96 T C 16: 46,049,797 probably null Het
Cep350 G A 1: 155,868,806 T2089I possibly damaging Het
Chd9 T C 8: 90,976,915 probably benign Het
Cib4 C T 5: 30,544,707 probably benign Het
Cilp2 T C 8: 69,884,320 T280A probably benign Het
Coq5 T A 5: 115,294,817 probably benign Het
Cyth3 A G 5: 143,707,437 I339V possibly damaging Het
Dcdc2c A G 12: 28,535,545 I151T probably benign Het
Defb7 T A 8: 19,497,662 F61Y probably benign Het
Diaph3 T A 14: 86,866,630 K773* probably null Het
Dmxl1 A G 18: 49,859,120 N311S probably damaging Het
Dnah7b G A 1: 46,119,298 R347H possibly damaging Het
Egflam C T 15: 7,289,796 V234I probably benign Het
Emilin3 C T 2: 160,909,149 V180M possibly damaging Het
Fam76b A T 9: 13,828,821 E50V probably null Het
Fat3 A T 9: 16,377,562 Y222N probably damaging Het
Grm7 A G 6: 111,254,020 N468S probably damaging Het
Gucy1a2 G T 9: 3,634,471 G172C probably damaging Het
Hmcn1 A C 1: 150,675,974 probably null Het
Hydin G A 8: 110,598,959 V4667M possibly damaging Het
Idh2 T C 7: 80,095,670 S408G probably benign Het
Kcng4 T C 8: 119,633,082 Q185R probably benign Het
Lamp3 A G 16: 19,676,052 V301A probably damaging Het
Lrrc23 T C 6: 124,774,436 N220S probably benign Het
Lrrc41 T A 4: 116,088,835 M249K possibly damaging Het
Ltbp4 T A 7: 27,310,649 D1162V probably damaging Het
Mlh1 T C 9: 111,252,969 I229V probably benign Het
Olfr108 T C 17: 37,446,034 L160P probably damaging Het
Plekhg2 T A 7: 28,362,917 D525V probably damaging Het
Plin4 T C 17: 56,105,108 K641R probably damaging Het
Plxnb2 A G 15: 89,161,222 probably null Het
Polr1a T C 6: 71,931,696 S502P possibly damaging Het
Prss16 A G 13: 22,003,050 V450A probably benign Het
Prss42 G A 9: 110,799,390 V201M probably damaging Het
Pus7 A T 5: 23,754,556 N322K probably damaging Het
Riok1 G T 13: 38,040,065 probably benign Het
Rmdn3 T A 2: 119,154,080 T64S probably benign Het
Rmnd5a T A 6: 71,414,814 M131L probably benign Het
Rtbdn C T 8: 84,955,089 R170C probably damaging Het
Sesn3 T C 9: 14,314,734 probably null Het
Slc2a6 A G 2: 27,024,293 Y271H probably benign Het
Slc5a5 T G 8: 70,892,517 T49P probably damaging Het
Slc7a10 T C 7: 35,195,168 V84A possibly damaging Het
Slc9a4 A G 1: 40,584,044 T148A possibly damaging Het
Smg1 T A 7: 118,167,955 probably benign Het
Snx19 T A 9: 30,428,364 V266E probably damaging Het
Synm T A 7: 67,735,056 I511F probably damaging Het
Tango6 T A 8: 106,742,010 probably benign Het
Tie1 T A 4: 118,486,282 D128V probably damaging Het
Timeless T C 10: 128,244,251 L423P probably damaging Het
Tln1 A G 4: 43,555,679 L145P probably damaging Het
Tmem8 A G 17: 26,119,120 Y466C probably damaging Het
Trp53i13 A T 11: 77,508,295 D376E probably damaging Het
Ubr4 A T 4: 139,417,331 I1484F probably damaging Het
Unc13a C T 8: 71,649,910 V943M probably damaging Het
Usp50 T C 2: 126,769,902 K301R probably damaging Het
Vmn1r62 G T 7: 5,676,203 M294I probably benign Het
Vps39 A G 2: 120,323,171 probably benign Het
Vwa8 T A 14: 79,103,700 probably benign Het
Wdr27 A T 17: 14,876,176 W748R possibly damaging 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
IGL02516:Dcaf7 APN 11 106051872 missense probably damaging 1.00
IGL02672:Dcaf7 APN 11 106054858 utr 3 prime probably benign
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 On2015-12-18