Incidental Mutation 'IGL03119:Dcaf6'
ID409917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcaf6
Ensembl Gene ENSMUSG00000026571
Gene NameDDB1 and CUL4 associated factor 6
SynonymsPC326, 1200006M05Rik, Iqwd1
Accession Numbers

Genbank: NM_028759; MGI: 1921356

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03119
Quality Score
Status
Chromosome1
Chromosomal Location165328698-165460475 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 165339976 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 708 (E708G)
Ref Sequence ENSEMBL: ENSMUSP00000027856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027856]
Predicted Effect probably damaging
Transcript: ENSMUST00000027856
AA Change: E708G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: E708G

DomainStartEndE-ValueType
WD40 40 79 5.77e-5 SMART
WD40 82 124 1.2e-2 SMART
WD40 130 170 2.15e-1 SMART
WD40 184 220 3.33e-1 SMART
WD40 238 281 6.66e-1 SMART
low complexity region 364 374 N/A INTRINSIC
low complexity region 499 510 N/A INTRINSIC
low complexity region 669 676 N/A INTRINSIC
IQ 691 713 1.25e1 SMART
WD40 722 763 3.84e0 SMART
WD40 766 805 1.22e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193353
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,714,887 T626A probably benign Het
Adcy1 C T 11: 7,109,051 T319I probably damaging Het
Adgrv1 A G 13: 81,382,373 S5861P probably damaging Het
Adgrv1 A C 13: 81,433,700 C4742G probably benign Het
Arid5b A T 10: 68,243,227 D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 T121A probably benign Het
Atxn7 C T 14: 14,100,734 L807F probably damaging Het
Cep104 A C 4: 153,981,724 K126N probably damaging Het
Dst A G 1: 34,161,062 Y107C probably damaging Het
E2f3 A G 13: 29,985,365 S102P probably benign Het
Eif3e A C 15: 43,265,604 S207A probably benign Het
Etl4 A G 2: 20,713,387 Y313C probably damaging Het
Fyttd1 T C 16: 32,900,695 V121A probably benign Het
Gstk1 T C 6: 42,249,899 S200P probably damaging Het
Ifrd1 A T 12: 40,212,334 F244L probably null Het
Ints7 T C 1: 191,610,365 V491A probably damaging Het
Kcnd2 G T 6: 21,216,509 E71* probably null Het
Ltbp3 A T 19: 5,757,443 Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 T961A probably benign Het
Naa25 T A 5: 121,434,978 V720E probably null Het
Olfr1480 T C 19: 13,530,435 I298T probably benign Het
Olfr599 A G 7: 103,338,722 I223V probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Peli1 T C 11: 21,140,560 probably benign Het
Ptbp1 T C 10: 79,859,624 V209A probably damaging Het
Ranbp2 A G 10: 58,452,003 Y31C probably damaging Het
Smg1 G A 7: 118,195,113 probably benign Het
Stat2 A G 10: 128,283,517 M457V probably benign Het
Trpm6 G T 19: 18,838,017 E1156* probably null Het
Usp53 T A 3: 122,961,415 R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 S193P probably benign Het
Xrn2 A G 2: 147,042,872 I626V probably damaging Het
Zfp574 G A 7: 25,080,473 A307T probably benign Het
Other mutations in Dcaf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00828:Dcaf6 APN 1 165338347 splice site probably benign
IGL01377:Dcaf6 APN 1 165388724 missense probably benign 0.01
IGL02027:Dcaf6 APN 1 165424341 missense probably damaging 1.00
IGL02390:Dcaf6 APN 1 165422921 missense possibly damaging 0.50
IGL02754:Dcaf6 APN 1 165338346 critical splice acceptor site probably null
IGL02900:Dcaf6 APN 1 165399775 missense probably damaging 1.00
IGL03211:Dcaf6 APN 1 165422933 missense possibly damaging 0.55
R0588:Dcaf6 UTSW 1 165420223 missense possibly damaging 0.89
R1494:Dcaf6 UTSW 1 165333373 missense probably damaging 0.99
R1512:Dcaf6 UTSW 1 165352020 missense probably benign 0.22
R1840:Dcaf6 UTSW 1 165399748 missense probably damaging 0.96
R2191:Dcaf6 UTSW 1 165422864 missense probably benign 0.07
R2297:Dcaf6 UTSW 1 165399862 missense probably damaging 1.00
R3082:Dcaf6 UTSW 1 165422852 splice site probably benign
R3861:Dcaf6 UTSW 1 165429269 missense probably damaging 1.00
R3907:Dcaf6 UTSW 1 165424380 nonsense probably null
R4521:Dcaf6 UTSW 1 165390490 missense probably damaging 0.98
R4531:Dcaf6 UTSW 1 165411467 missense probably damaging 1.00
R4906:Dcaf6 UTSW 1 165411463 critical splice donor site probably null
R4916:Dcaf6 UTSW 1 165420205 missense probably damaging 1.00
R4956:Dcaf6 UTSW 1 165388785 missense probably benign 0.00
R5080:Dcaf6 UTSW 1 165420121 missense probably damaging 1.00
R5091:Dcaf6 UTSW 1 165330003 missense possibly damaging 0.76
R5277:Dcaf6 UTSW 1 165424346 missense probably benign 0.09
R5512:Dcaf6 UTSW 1 165399835 missense possibly damaging 0.84
R5914:Dcaf6 UTSW 1 165351155 missense probably benign
R6004:Dcaf6 UTSW 1 165388685 missense probably benign 0.00
R6239:Dcaf6 UTSW 1 165351270 missense possibly damaging 0.47
R6736:Dcaf6 UTSW 1 165399785 missense possibly damaging 0.77
R7051:Dcaf6 UTSW 1 165424317 missense possibly damaging 0.82
R7110:Dcaf6 UTSW 1 165351968 missense probably benign 0.22
R7583:Dcaf6 UTSW 1 165333310 missense probably damaging 1.00
R7776:Dcaf6 UTSW 1 165352054 nonsense probably null
R7790:Dcaf6 UTSW 1 165399715 missense probably damaging 1.00
R8369:Dcaf6 UTSW 1 165357474 missense probably damaging 1.00
Posted On2016-08-02