Incidental Mutation 'IGL01401:Dcaf4'
ID79633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcaf4
Ensembl Gene ENSMUSG00000021222
Gene NameDDB1 and CUL4 associated factor 4
Synonyms1110018E21Rik, Wdr21
Accession Numbers

Genbank: NM_030246; MGI: 1921078

Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01401
Quality Score
Status
Chromosome12
Chromosomal Location83520466-83541920 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83541374 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 449 (D449G)
Ref Sequence ENSEMBL: ENSMUSP00000152717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021645] [ENSMUST00000223291]
Predicted Effect probably damaging
Transcript: ENSMUST00000021645
AA Change: D436G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021645
Gene: ENSMUSG00000021222
AA Change: D436G

DomainStartEndE-ValueType
low complexity region 8 16 N/A INTRINSIC
low complexity region 48 61 N/A INTRINSIC
Blast:WD40 274 313 2e-14 BLAST
WD40 361 399 8.36e-2 SMART
WD40 402 443 7.4e0 SMART
Blast:WD40 446 494 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221944
Predicted Effect probably damaging
Transcript: ENSMUST00000223291
AA Change: D449G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
Allele List at MGI

All alleles(39) : Gene trapped(39)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik A G 6: 149,326,896 E480G probably damaging Het
4932438A13Rik A G 3: 36,942,292 N1051S probably benign Het
Adgrl3 T C 5: 81,688,669 V758A possibly damaging Het
Arf4 T C 14: 26,638,454 L12P probably damaging Het
C4bp A T 1: 130,648,064 V230E possibly damaging Het
Carm1 T A 9: 21,569,582 probably null Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Ceacam16 T C 7: 19,861,129 Y8C probably benign Het
Ckap2l A T 2: 129,269,216 V687E probably damaging Het
Dhx38 T C 8: 109,552,114 Y1113C probably benign Het
Fry A G 5: 150,438,788 I161V probably benign Het
Gm17093 A C 14: 44,521,527 M169L unknown Het
Gm20721 A G 2: 174,345,502 D999G probably damaging Het
Grin2b T C 6: 135,736,363 H840R probably damaging Het
Hoxc12 C A 15: 102,937,320 H156Q probably benign Het
Htr3b T C 9: 48,947,634 D68G probably damaging Het
Inpp5b T C 4: 124,746,087 V99A probably damaging Het
Klhl42 C T 6: 147,107,743 T360M probably benign Het
Lmo7 C T 14: 101,794,277 R36* probably null Het
Lmod3 T G 6: 97,252,552 N7T probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mthfd2l T A 5: 91,000,566 I284K possibly damaging Het
Myo1e T A 9: 70,327,166 I267N probably damaging Het
Olfr1393 T A 11: 49,280,487 V113E possibly damaging Het
Olfr159 T C 4: 43,770,112 R300G probably damaging Het
Prkce T C 17: 86,168,840 V83A probably damaging Het
Pxdn G T 12: 30,001,984 C540F probably damaging Het
Ryr2 T A 13: 11,591,352 E4448V possibly damaging Het
Scn1a A T 2: 66,289,111 N1349K probably damaging Het
Smarcc1 T C 9: 110,149,965 I172T possibly damaging Het
Syt16 T C 12: 74,222,663 V92A possibly damaging Het
Tenm4 A G 7: 96,874,267 Y1672C probably damaging Het
Tmem131 A G 1: 36,799,387 Y1486H probably damaging Het
Tmem132a A G 19: 10,861,524 probably benign Het
Usp40 A T 1: 87,994,198 D314E probably damaging Het
Vmn2r79 G A 7: 87,037,273 V621I probably benign Het
Wnk4 A G 11: 101,276,683 probably benign Het
Wwc1 C A 11: 35,898,618 probably null Het
Other mutations in Dcaf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Dcaf4 APN 12 83539333 missense probably damaging 1.00
IGL02393:Dcaf4 APN 12 83530031 missense probably damaging 1.00
IGL02970:Dcaf4 APN 12 83529215 missense probably damaging 0.99
F5770:Dcaf4 UTSW 12 83537701 splice site probably null
PIT4504001:Dcaf4 UTSW 12 83534011 critical splice donor site probably null
R0032:Dcaf4 UTSW 12 83535988 splice site probably benign
R0032:Dcaf4 UTSW 12 83535988 splice site probably benign
R0164:Dcaf4 UTSW 12 83535988 splice site probably benign
R0165:Dcaf4 UTSW 12 83535988 splice site probably benign
R0167:Dcaf4 UTSW 12 83535988 splice site probably benign
R0211:Dcaf4 UTSW 12 83535961 missense probably damaging 1.00
R0211:Dcaf4 UTSW 12 83535961 missense probably damaging 1.00
R0594:Dcaf4 UTSW 12 83538043 critical splice donor site probably null
R1191:Dcaf4 UTSW 12 83535967 missense probably damaging 1.00
R4499:Dcaf4 UTSW 12 83539360 missense probably damaging 1.00
R4896:Dcaf4 UTSW 12 83539459 missense possibly damaging 0.86
R4932:Dcaf4 UTSW 12 83532304 missense possibly damaging 0.61
R5882:Dcaf4 UTSW 12 83539429 missense probably damaging 0.96
R7084:Dcaf4 UTSW 12 83537797 frame shift probably null
R7564:Dcaf4 UTSW 12 83541523 missense probably damaging 0.97
R7777:Dcaf4 UTSW 12 83537959 missense probably damaging 0.97
V7583:Dcaf4 UTSW 12 83537701 splice site probably null
Posted On2013-11-05