Incidental Mutation 'R5755:Dcaf12'
ID 444991
Institutional Source Beutler Lab
Gene Symbol Dcaf12
Ensembl Gene ENSMUSG00000028436
Gene Name DDB1 and CUL4 associated factor 12
Synonyms 1500001L20Rik, Wdr40a, 5830424K06Rik
MMRRC Submission 043202-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R5755 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 41291300-41314889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41313356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 63 (Y63C)
Ref Sequence ENSEMBL: ENSMUSP00000030145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030145]
AlphaFold Q8BGZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000030145
AA Change: Y63C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030145
Gene: ENSMUSG00000028436
AA Change: Y63C

DomainStartEndE-ValueType
WD40 77 116 1.53e2 SMART
Blast:WD40 121 169 5e-20 BLAST
WD40 172 211 3.75e-4 SMART
WD40 236 280 4.44e0 SMART
Blast:WD40 284 323 7e-7 BLAST
WD40 328 366 2.37e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157313
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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 COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]
Allele List at MGI

All alleles(25) : Gene trapped(25)
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,617,428 (GRCm39) F1042I probably damaging Het
Ahnak A G 19: 8,979,096 (GRCm39) T127A probably benign Het
Aloxe3 A G 11: 69,023,575 (GRCm39) I233V probably benign Het
Ambn T A 5: 88,612,350 (GRCm39) probably null Het
Atp2b1 A G 10: 98,839,032 (GRCm39) E39G probably damaging Het
Atp2b1 T C 10: 98,830,671 (GRCm39) probably null Het
Camsap2 C T 1: 136,210,065 (GRCm39) G476R probably damaging Het
Cdk4 T A 10: 126,900,591 (GRCm39) probably null Het
Dtna T A 18: 23,754,520 (GRCm39) S445T probably benign Het
Ehmt2 T C 17: 35,127,214 (GRCm39) M109T probably benign Het
Erbb4 T C 1: 68,599,678 (GRCm39) E133G possibly damaging Het
F830016B08Rik T A 18: 60,433,878 (GRCm39) F320L probably damaging Het
Fyco1 A G 9: 123,657,773 (GRCm39) V801A possibly damaging Het
Gm57858 A T 3: 36,071,842 (GRCm39) M501K probably benign Het
Jag1 T A 2: 136,930,610 (GRCm39) N674Y probably damaging Het
Kcnj10 A G 1: 172,197,161 (GRCm39) E225G possibly damaging Het
Klhl11 T A 11: 100,355,177 (GRCm39) M215L probably benign Het
Kmt2d G T 15: 98,761,527 (GRCm39) P608T unknown Het
Map3k19 T C 1: 127,750,118 (GRCm39) M1078V probably benign Het
Neto1 T C 18: 86,517,219 (GRCm39) V512A probably damaging Het
Notch1 T C 2: 26,363,704 (GRCm39) D910G probably benign Het
Or1e19 T A 11: 73,316,557 (GRCm39) N84I probably benign Het
Or2w1 T A 13: 21,317,695 (GRCm39) I250K probably damaging Het
Parvg T C 15: 84,215,297 (GRCm39) probably null Het
Pi4kb A T 3: 94,901,608 (GRCm39) probably null Het
Plag1 T C 4: 3,904,492 (GRCm39) K233R possibly damaging Het
Polr1h T A 17: 37,269,049 (GRCm39) D43V probably benign Het
Rasgrp3 A C 17: 75,831,940 (GRCm39) D587A probably benign Het
Slc7a10 A T 7: 34,898,336 (GRCm39) I336F probably damaging Het
Snx8 T G 5: 140,338,796 (GRCm39) E254A possibly damaging Het
Sp3 A T 2: 72,768,725 (GRCm39) silent Het
Sp8 G T 12: 118,812,822 (GRCm39) A226S probably damaging Het
Spata31d1c C A 13: 65,184,341 (GRCm39) Q628K probably benign Het
Styx C A 14: 45,605,910 (GRCm39) T138K probably benign Het
Syngr3 A G 17: 24,905,509 (GRCm39) F155S probably damaging Het
Trip11 C T 12: 101,851,924 (GRCm39) W428* probably null Het
Ubr4 A G 4: 139,187,406 (GRCm39) T3825A possibly damaging Het
Vmn2r113 A T 17: 23,176,955 (GRCm39) T580S probably benign Het
Zbtb11 T A 16: 55,821,076 (GRCm39) S724R probably benign Het
Zcchc4 T C 5: 52,973,511 (GRCm39) S379P probably benign Het
Other mutations in Dcaf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01988:Dcaf12 APN 4 41,298,299 (GRCm39) missense probably benign
IGL02252:Dcaf12 APN 4 41,294,085 (GRCm39) missense probably benign 0.17
IGL02508:Dcaf12 APN 4 41,296,310 (GRCm39) critical splice donor site probably null
R0066:Dcaf12 UTSW 4 41,298,338 (GRCm39) missense probably damaging 0.98
R0066:Dcaf12 UTSW 4 41,298,338 (GRCm39) missense probably damaging 0.98
R0382:Dcaf12 UTSW 4 41,302,672 (GRCm39) missense probably damaging 1.00
R2001:Dcaf12 UTSW 4 41,302,804 (GRCm39) missense probably damaging 1.00
R2095:Dcaf12 UTSW 4 41,294,085 (GRCm39) missense probably benign 0.17
R5109:Dcaf12 UTSW 4 41,298,329 (GRCm39) missense possibly damaging 0.89
R5434:Dcaf12 UTSW 4 41,302,744 (GRCm39) missense probably benign 0.00
R6016:Dcaf12 UTSW 4 41,313,267 (GRCm39) missense probably damaging 1.00
R6160:Dcaf12 UTSW 4 41,294,043 (GRCm39) missense probably damaging 1.00
R7092:Dcaf12 UTSW 4 41,301,366 (GRCm39) missense probably damaging 1.00
R8786:Dcaf12 UTSW 4 41,296,439 (GRCm39) missense probably damaging 1.00
R9017:Dcaf12 UTSW 4 41,299,411 (GRCm39) missense probably benign 0.13
R9627:Dcaf12 UTSW 4 41,293,976 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGAAGACAAAGAGCACTCCTGATAC -3'
(R):5'- GCCTTATTTCAGTGCTAGCCG -3'

Sequencing Primer
(F):5'- AGAGCACTCCTGATACTTACTGTG -3'
(R):5'- CAGTGCTAGCCGAGTTAAACTGTAC -3'
Posted On 2016-11-21