Incidental Mutation 'R6160:Dcaf12'
ID 489796
Institutional Source Beutler Lab
Gene Symbol Dcaf12
Ensembl Gene ENSMUSG00000028436
Gene Name DDB1 and CUL4 associated factor 12
Synonyms 1500001L20Rik, Wdr40a, 5830424K06Rik
MMRRC Submission 044307-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R6160 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 41291300-41314889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41294043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 365 (Y365N)
Ref Sequence ENSEMBL: ENSMUSP00000030145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030145]
AlphaFold Q8BGZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000030145
AA Change: Y365N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030145
Gene: ENSMUSG00000028436
AA Change: Y365N

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
Meta Mutation Damage Score 0.9405 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 94% (62/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,642,950 (GRCm39) S297R possibly damaging Het
5530400C23Rik A G 6: 133,271,289 (GRCm39) E111G possibly damaging Het
8030423J24Rik T A 13: 71,032,029 (GRCm39) S34T unknown Het
Ace3 T A 11: 105,885,558 (GRCm39) W20R possibly damaging Het
Adgrf1 A G 17: 43,621,578 (GRCm39) E605G probably damaging Het
Arhgap44 G A 11: 65,053,375 (GRCm39) probably benign Het
Atm A C 9: 53,402,259 (GRCm39) H1404Q probably benign Het
AW209491 A G 13: 14,811,306 (GRCm39) E53G probably damaging Het
Bhmt1b G A 18: 87,775,245 (GRCm39) C256Y probably damaging Het
Cdt1 C T 8: 123,298,107 (GRCm39) T366I probably benign Het
Cerk A T 15: 86,026,974 (GRCm39) C179S probably benign Het
Cldn10 T C 14: 119,099,255 (GRCm39) V123A possibly damaging Het
Clip1 T C 5: 123,751,604 (GRCm39) K726E possibly damaging Het
Dennd6b A G 15: 89,073,024 (GRCm39) L171P probably damaging Het
Dip2c G A 13: 9,583,290 (GRCm39) V91I probably benign Het
Dlec1 A G 9: 118,972,387 (GRCm39) I1431V probably benign Het
Egln1 T C 8: 125,675,231 (GRCm39) D188G probably damaging Het
Enpp5 T A 17: 44,392,259 (GRCm39) N229K possibly damaging Het
Fmo1 T G 1: 162,663,867 (GRCm39) I221L probably benign Het
Fsip2 G A 2: 82,818,289 (GRCm39) W4674* probably null Het
Gm12185 G A 11: 48,799,255 (GRCm39) Q413* probably null Het
Gm7298 A T 6: 121,741,886 (GRCm39) H436L probably benign Het
Gucy2c G A 6: 136,717,684 (GRCm39) Q430* probably null Het
Hgd A G 16: 37,433,660 (GRCm39) H134R probably damaging Het
Hoxd8 A G 2: 74,536,343 (GRCm39) E151G probably damaging Het
Il15ra A G 2: 11,724,827 (GRCm39) D99G probably damaging Het
Ints4 T A 7: 97,158,790 (GRCm39) probably null Het
Itgb1 T A 8: 129,446,764 (GRCm39) F426L possibly damaging Het
Itpr1 A C 6: 108,495,716 (GRCm39) I2534L probably benign Het
Kcnq4 T A 4: 120,573,756 (GRCm39) H235L probably damaging Het
Kcnt1 T A 2: 25,782,395 (GRCm39) I178N probably damaging Het
Kidins220 A G 12: 25,047,310 (GRCm39) D252G probably damaging Het
Krt23 A G 11: 99,376,544 (GRCm39) I204T probably damaging Het
Lipo4 A G 19: 33,480,693 (GRCm39) L225P probably damaging Het
Lrp3 T C 7: 34,903,548 (GRCm39) D245G possibly damaging Het
Mmp16 A G 4: 18,051,857 (GRCm39) D282G probably damaging Het
Myo1c A T 11: 75,541,568 (GRCm39) H18L probably benign Het
Myo1f C A 17: 33,823,318 (GRCm39) P981Q probably benign Het
Nle1 A T 11: 82,798,983 (GRCm39) F33I probably benign Het
Nlrp4e T G 7: 23,020,731 (GRCm39) M406R probably damaging Het
Obscn A T 11: 58,942,611 (GRCm39) V4857E probably damaging Het
Palb2 A T 7: 121,727,643 (GRCm39) probably null Het
Phospho1 A T 11: 95,721,450 (GRCm39) E22V probably damaging Het
Pom121l2 C T 13: 22,167,838 (GRCm39) S703L possibly damaging Het
Prex2 T C 1: 11,064,075 (GRCm39) L20P probably damaging Het
Psmb7 T C 2: 38,533,393 (GRCm39) T45A probably damaging Het
R3hdm2 T C 10: 127,320,376 (GRCm39) I532T probably damaging Het
Rcn1 T C 2: 105,222,362 (GRCm39) D208G probably damaging Het
Recql5 A G 11: 115,823,613 (GRCm39) probably null Het
Resf1 G A 6: 149,233,005 (GRCm39) probably null Het
Rfc4 A T 16: 22,933,433 (GRCm39) I242N probably damaging Het
Rims1 T C 1: 22,503,235 (GRCm39) Y650C probably damaging Het
Shc2 C T 10: 79,462,853 (GRCm39) probably null Het
Slc14a2 A T 18: 78,202,190 (GRCm39) probably null Het
Slc6a6 A T 6: 91,716,995 (GRCm39) probably null Het
Synj2 C A 17: 6,058,336 (GRCm39) H275N possibly damaging Het
T A T 17: 8,660,618 (GRCm39) T410S probably benign Het
Tars3 A G 7: 65,332,527 (GRCm39) I543V probably benign Het
Tbc1d8 T A 1: 39,411,484 (GRCm39) K1117N probably damaging Het
Tm7sf3 A T 6: 146,507,787 (GRCm39) L425* probably null Het
Trav14-3 A G 14: 54,000,978 (GRCm39) Y63C probably damaging Het
Tyro3 A C 2: 119,633,751 (GRCm39) D133A probably damaging Het
Vmn1r119 T G 7: 20,745,740 (GRCm39) H214P possibly damaging Het
Vmn2r120 G A 17: 57,816,418 (GRCm39) P646S probably benign Het
Zbtb7c A T 18: 76,278,904 (GRCm39) Y454F probably benign Het
Zmym2 T C 14: 57,187,766 (GRCm39) L1144P probably damaging 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
R5755:Dcaf12 UTSW 4 41,313,356 (GRCm39) missense probably damaging 0.99
R6016:Dcaf12 UTSW 4 41,313,267 (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'- ACTGGAGGGTAGACAATCCC -3'
(R):5'- TATTGGAGGCATAGCACCAAG -3'

Sequencing Primer
(F):5'- GGGTAGACAATCCCTCCCTG -3'
(R):5'- GAACCCAGACACACTTATGTTCTTTG -3'
Posted On 2017-10-10