Incidental Mutation 'IGL01584:Dcaf7'
ID91474
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? Essential (E-score: 1.000) question?
Stock #IGL01584
Quality Score
Status
Chromosome11
Chromosomal Location106036872-106059324 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106053827 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 279 (S279P)
Ref Sequence ENSEMBL: ENSMUSP00000058168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058438]
Predicted Effect probably benign
Transcript: ENSMUST00000058438
AA Change: S279P

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: S279P

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,304,923 V570A probably damaging Het
Abcb1a T C 5: 8,698,637 S323P possibly damaging Het
Adcy8 C T 15: 64,815,321 D445N probably damaging Het
Cdc14a A T 3: 116,392,825 Y102* probably null Het
Cubn A G 2: 13,308,661 probably benign Het
Dock10 T C 1: 80,533,850 Q1514R probably damaging Het
Dtx2 G A 5: 136,026,566 S369N possibly damaging Het
Dusp11 A G 6: 85,953,394 F136S probably damaging Het
Fbxo32 T C 15: 58,184,236 D227G probably damaging Het
Flg2 T A 3: 93,213,466 V1215E unknown Het
Flg2 A T 3: 93,215,470 D1649V unknown Het
Gabbr2 T C 4: 46,674,524 K821R probably damaging Het
Gga2 T C 7: 121,991,538 T516A probably benign Het
Gm12394 A C 4: 42,794,014 S39R probably damaging Het
Gm15446 T A 5: 109,940,802 *64K probably null Het
Gm5900 T C 7: 104,950,154 noncoding transcript Het
Il17rb A G 14: 30,003,680 F121S probably damaging Het
Ip6k3 C A 17: 27,151,060 R128L probably benign Het
Kmt2d A T 15: 98,856,369 probably benign Het
Lrrn4 A G 2: 132,878,076 L268P probably damaging Het
Mthfd1l C A 10: 4,016,738 S332R probably damaging Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1102 G A 2: 87,002,151 V61I probably benign Het
Pdzd2 T C 15: 12,592,483 E25G probably damaging Het
Prima1 A T 12: 103,202,788 probably null Het
Rbm26 A G 14: 105,131,532 V737A probably damaging Het
Ryr2 C T 13: 11,601,758 probably null Het
Sema5b G T 16: 35,645,423 C114F probably damaging Het
Speg T C 1: 75,430,937 V3196A probably damaging Het
Svs3b T C 2: 164,256,023 Y126C probably benign Het
Tmem171 T C 13: 98,692,175 probably null Het
Tnrc6b T A 15: 80,879,682 W462R probably benign Het
Trdmt1 T C 2: 13,519,928 R239G probably benign Het
Usp5 A T 6: 124,819,387 V583E probably damaging Het
Utrn A G 10: 12,726,367 V639A probably benign Het
Vmn1r206 T C 13: 22,620,794 K81R probably damaging Het
Vwa3a A G 7: 120,783,974 I599M probably benign Het
Other mutations in Dcaf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Dcaf7 APN 11 106054746 missense probably damaging 1.00
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
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
R7155:Dcaf7 UTSW 11 106037190 missense probably damaging 0.97
R7253:Dcaf7 UTSW 11 106047843 intron probably null
R7446:Dcaf7 UTSW 11 106053735 missense probably benign 0.04
R7631:Dcaf7 UTSW 11 106053753 missense probably benign 0.03
Z1177:Dcaf7 UTSW 11 106053795 missense probably benign 0.00
Posted On2013-12-09