Incidental Mutation 'R4582:Dcaf15'
ID343736
Institutional Source Beutler Lab
Gene Symbol Dcaf15
Ensembl Gene ENSMUSG00000037103
Gene NameDDB1 and CUL4 associated factor 15
Synonyms
MMRRC Submission 041803-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.915) question?
Stock #R4582 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location84097072-84104768 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84097969 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 533 (V533A)
Ref Sequence ENSEMBL: ENSMUSP00000147690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005600] [ENSMUST00000041367] [ENSMUST00000210279] [ENSMUST00000210625] [ENSMUST00000211046]
Predicted Effect probably benign
Transcript: ENSMUST00000005600
SMART Domains Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706

DomainStartEndE-ValueType
low complexity region 11 47 N/A INTRINSIC
low complexity region 53 67 N/A INTRINSIC
low complexity region 73 92 N/A INTRINSIC
Pfam:RFX1_trans_act 106 176 9.6e-9 PFAM
Pfam:RFX1_trans_act 211 366 1.8e-59 PFAM
Pfam:RFX_DNA_binding 420 498 2.5e-35 PFAM
Blast:HisKA 705 768 3e-28 BLAST
low complexity region 908 920 N/A INTRINSIC
low complexity region 932 948 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000041367
AA Change: V533A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103
AA Change: V533A

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
Pfam:DCAF15_WD40 48 259 1.1e-84 PFAM
low complexity region 275 294 N/A INTRINSIC
low complexity region 343 359 N/A INTRINSIC
low complexity region 374 384 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000210279
AA Change: V533A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210625
Predicted Effect probably benign
Transcript: ENSMUST00000211046
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra A T 15: 41,869,285 D128E probably benign Het
Akap11 A T 14: 78,511,929 V1006E possibly damaging Het
Ankrd7 T A 6: 18,868,021 N95K probably damaging Het
Brd9 T C 13: 73,947,733 F366L probably benign Het
Brinp2 A G 1: 158,267,938 F118L probably damaging Het
Ccdc138 T C 10: 58,507,643 probably null Het
Celsr3 T C 9: 108,845,723 F189L probably damaging Het
Cfap45 A G 1: 172,529,912 T36A probably benign Het
Clec4a1 G T 6: 122,932,191 V173L possibly damaging Het
Col6a5 G A 9: 105,862,764 T2552I probably benign Het
Dhrs9 A T 2: 69,397,653 I204F probably damaging Het
Dock7 A G 4: 99,003,916 V811A possibly damaging Het
Eef1akmt1 T C 14: 57,550,448 D151G probably damaging Het
Eif4g3 G A 4: 138,171,245 R1109H probably damaging Het
Gtpbp10 T C 5: 5,542,395 T191A possibly damaging Het
Hectd4 A G 5: 121,286,419 N714S possibly damaging Het
Lima1 T C 15: 99,780,992 T523A possibly damaging Het
Lipe A G 7: 25,397,702 L272P probably benign Het
Llgl2 A G 11: 115,850,706 E554G possibly damaging Het
Lrrc66 T C 5: 73,608,237 S488G possibly damaging Het
Man2a1 C T 17: 64,752,499 A1127V probably benign Het
Naglu A T 11: 101,071,929 I187F probably damaging Het
Nt5c1b T A 12: 10,390,054 M548K probably damaging Het
Olfr1338 A T 4: 118,753,893 I217N probably damaging Het
Olfr768 A T 10: 129,093,158 V272E possibly damaging Het
Pcdha3 T C 18: 36,947,432 V409A probably benign Het
Pde6b A T 5: 108,425,231 probably null Het
Pkd2 A T 5: 104,502,344 K857* probably null Het
Rfx4 T A 10: 84,844,300 S114T possibly damaging Het
Sacs G A 14: 61,191,698 G402D probably damaging Het
Slc22a5 C T 11: 53,891,209 E111K probably damaging Het
Sptbn1 G A 11: 30,219,597 R44C probably damaging Het
Taf1 T C X: 101,593,995 V1696A possibly damaging Het
Tm9sf3 C A 19: 41,256,166 G91C probably damaging Het
Tmie T G 9: 110,873,797 E32A probably benign Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Tsga13 A T 6: 30,902,363 N138K probably benign Het
Ttc7b G A 12: 100,500,117 R79C probably damaging Het
Ugt1a10 A T 1: 88,055,741 D87V possibly damaging Het
Vdac3-ps1 A T 13: 18,031,592 noncoding transcript Het
Vmn1r29 A C 6: 58,308,032 I246L probably damaging Het
Zbtb16 A G 9: 48,832,082 V310A probably benign Het
Other mutations in Dcaf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Dcaf15 APN 8 84098397 missense probably damaging 0.98
IGL01455:Dcaf15 APN 8 84098590 missense probably benign
IGL01656:Dcaf15 APN 8 84097988 missense probably benign 0.01
IGL02437:Dcaf15 APN 8 84101816 missense probably damaging 1.00
IGL02718:Dcaf15 APN 8 84098376 missense possibly damaging 0.52
R2072:Dcaf15 UTSW 8 84101741 missense probably damaging 1.00
R2090:Dcaf15 UTSW 8 84097771 nonsense probably null
R3913:Dcaf15 UTSW 8 84099165 missense probably damaging 1.00
R4657:Dcaf15 UTSW 8 84102838 missense probably damaging 0.99
R4714:Dcaf15 UTSW 8 84102216 missense probably benign 0.21
R4734:Dcaf15 UTSW 8 84097728 missense probably benign 0.00
R5898:Dcaf15 UTSW 8 84098452 missense probably damaging 1.00
R6167:Dcaf15 UTSW 8 84097997 missense possibly damaging 0.78
R6261:Dcaf15 UTSW 8 84099105 missense probably benign
R6408:Dcaf15 UTSW 8 84104726 missense probably benign 0.00
R7248:Dcaf15 UTSW 8 84102765 missense possibly damaging 0.89
R7498:Dcaf15 UTSW 8 84101763 missense not run
Z1088:Dcaf15 UTSW 8 84102781 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCATCCTGTTCACATAGCGG -3'
(R):5'- CTCTTCTGTGCAGGGTGAAC -3'

Sequencing Primer
(F):5'- TGTTCACATAGCGGCCACTG -3'
(R):5'- CTTCTGTGCAGGGTGAACAGATAG -3'
Posted On2015-09-24