Incidental Mutation 'R7650:Dcaf1'
ID 590769
Institutional Source Beutler Lab
Gene Symbol Dcaf1
Ensembl Gene ENSMUSG00000040325
Gene Name DDB1 and CUL4 associated factor 1
Synonyms B930007L02Rik, Vprbp
MMRRC Submission 045727-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7650 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 106699073-106758191 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106715543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 220 (D220G)
Ref Sequence ENSEMBL: ENSMUSP00000123865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055009] [ENSMUST00000159645] [ENSMUST00000161758]
AlphaFold Q80TR8
Predicted Effect probably benign
Transcript: ENSMUST00000055009
AA Change: D220G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: D220G

DomainStartEndE-ValueType
low complexity region 175 191 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
low complexity region 591 605 N/A INTRINSIC
LisH 845 877 1.77e-3 SMART
low complexity region 920 945 N/A INTRINSIC
PDB:4PXW|B 1038 1392 N/A PDB
SCOP:d1tbga_ 1063 1375 9e-20 SMART
Blast:WD40 1078 1120 3e-22 BLAST
Blast:WD40 1123 1164 7e-19 BLAST
low complexity region 1393 1452 N/A INTRINSIC
low complexity region 1457 1483 N/A INTRINSIC
PDB:4P7I|D 1484 1506 2e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000159620
SMART Domains Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575

DomainStartEndE-ValueType
Pfam:Armet 18 120 1.7e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159645
AA Change: D220G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: D220G

DomainStartEndE-ValueType
low complexity region 175 191 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
low complexity region 591 605 N/A INTRINSIC
LisH 845 877 1.77e-3 SMART
low complexity region 920 945 N/A INTRINSIC
PDB:4PXW|B 1038 1394 N/A PDB
SCOP:d1tbga_ 1063 1375 1e-19 SMART
Blast:WD40 1078 1120 2e-22 BLAST
Blast:WD40 1123 1164 7e-19 BLAST
low complexity region 1395 1402 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161758
AA Change: D220G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: D220G

DomainStartEndE-ValueType
low complexity region 175 191 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
low complexity region 591 605 N/A INTRINSIC
LisH 845 877 1.77e-3 SMART
low complexity region 920 945 N/A INTRINSIC
PDB:4PXW|B 1038 1398 N/A PDB
SCOP:d1tbga_ 1063 1308 3e-19 SMART
Blast:WD40 1078 1120 3e-22 BLAST
Blast:WD40 1123 1164 7e-19 BLAST
low complexity region 1399 1458 N/A INTRINSIC
low complexity region 1463 1489 N/A INTRINSIC
PDB:4P7I|D 1490 1512 2e-6 PDB
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (80/80)
MGI Phenotype PHENOTYPE: Embryos homozygous for a knock-out allele die prior to E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik G A 7: 30,399,214 (GRCm39) V3I probably benign Het
Adam33 T C 2: 130,903,067 (GRCm39) E59G probably damaging Het
Akap13 T A 7: 75,293,202 (GRCm39) V45E probably benign Het
Ap1s1 A G 5: 137,074,387 (GRCm39) S28P probably benign Het
Btnl2 T C 17: 34,577,103 (GRCm39) L86P probably damaging Het
Carm1 G A 9: 21,491,668 (GRCm39) V246I probably benign Het
Cdk5rap1 C T 2: 154,196,036 (GRCm39) D283N probably benign Het
Cfap58 C A 19: 47,974,967 (GRCm39) N709K possibly damaging Het
Col24a1 A G 3: 145,020,214 (GRCm39) D195G probably benign Het
Ddias C T 7: 92,508,143 (GRCm39) G591R probably benign Het
Defb22 A T 2: 152,328,023 (GRCm39) I54K probably benign Het
Dennd4b G A 3: 90,176,056 (GRCm39) W202* probably null Het
F2 T C 2: 91,458,741 (GRCm39) N523S possibly damaging Het
Fam186a A G 15: 99,837,788 (GRCm39) Y2819H unknown Het
Fanca A T 8: 123,995,303 (GRCm39) probably null Het
Fezf2 T C 14: 12,342,653 (GRCm38) H404R probably damaging Het
Fry A G 5: 150,336,883 (GRCm39) N1418S probably damaging Het
Gak A G 5: 108,732,161 (GRCm39) S776P probably benign Het
Gbf1 A G 19: 46,260,978 (GRCm39) H1181R probably damaging Het
Gdf9 G A 11: 53,327,925 (GRCm39) E294K probably benign Het
Gje1 G A 10: 14,592,168 (GRCm39) R205* probably null Het
Gm8206 T C 14: 6,055,211 (GRCm38) probably null Het
Gpr162 T A 6: 124,838,806 (GRCm39) probably benign Het
Gxylt1 C T 15: 93,143,539 (GRCm39) R363H probably benign Het
Hnrnph1 A T 11: 50,274,726 (GRCm39) M396L probably benign Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Ice1 T A 13: 70,753,602 (GRCm39) Q828L probably damaging Het
Ift56 T A 6: 38,371,975 (GRCm39) N188K probably benign Het
Il10 A T 1: 130,949,192 (GRCm39) T118S probably benign Het
Itpr2 C T 6: 146,135,492 (GRCm39) R1813Q probably benign Het
Kbtbd12 T A 6: 88,595,530 (GRCm39) Q100L probably damaging Het
Kin A G 2: 10,096,979 (GRCm39) D276G possibly damaging Het
Klhl1 T C 14: 96,584,379 (GRCm39) T284A probably damaging Het
Kmt2d C T 15: 98,748,751 (GRCm39) A2858T unknown Het
Krt8 G A 15: 101,912,598 (GRCm39) T26M probably benign Het
Lama3 T A 18: 12,670,895 (GRCm39) M827K probably benign Het
Lingo3 T C 10: 80,671,597 (GRCm39) N111S probably damaging Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Metap1 A G 3: 138,172,128 (GRCm39) V263A probably damaging Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Muc5ac A G 7: 141,363,159 (GRCm39) T2157A unknown Het
Myo1d G T 11: 80,492,510 (GRCm39) H748Q probably benign Het
Nfkbiz A T 16: 55,638,202 (GRCm39) N419K probably benign Het
Nol10 T C 12: 17,412,683 (GRCm39) probably null Het
Nrcam T C 12: 44,594,105 (GRCm39) L284P probably damaging Het
Nrp1 T A 8: 129,224,495 (GRCm39) W753R possibly damaging Het
Obscn A G 11: 58,951,820 (GRCm39) S3978P probably benign Het
Opa3 C A 7: 18,978,896 (GRCm39) N120K probably benign Het
Or5k17 T A 16: 58,746,416 (GRCm39) R173* probably null Het
Or8g53 A T 9: 39,683,169 (GRCm39) F309Y probably benign Het
Pabpc1l T C 2: 163,891,510 (GRCm39) L576S probably benign Het
Panx3 A G 9: 37,572,701 (GRCm39) L283S probably damaging Het
Pcdhb4 T A 18: 37,442,667 (GRCm39) V659E probably damaging Het
Pde4dip A T 3: 97,606,423 (GRCm39) probably null Het
Pkd1l3 T C 8: 110,399,217 (GRCm39) V2200A probably benign Het
Pkp3 G A 7: 140,662,283 (GRCm39) M112I probably benign Het
Prex2 T C 1: 11,220,078 (GRCm39) I683T possibly damaging Het
Psg22 C A 7: 18,460,684 (GRCm39) Q438K possibly damaging Het
Ptgir T C 7: 16,640,876 (GRCm39) V56A possibly damaging Het
Pus7 G T 5: 23,965,244 (GRCm39) T304K probably damaging Het
Rab38 T C 7: 88,079,637 (GRCm39) Y10H possibly damaging Het
Ros1 C T 10: 51,922,305 (GRCm39) G2277D probably benign Het
Rpain A T 11: 70,861,271 (GRCm39) probably benign Het
Shh C A 5: 28,663,304 (GRCm39) S288I probably benign Het
Slc26a5 C T 5: 22,039,328 (GRCm39) V259M possibly damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Slit1 T A 19: 41,618,363 (GRCm39) N771I probably damaging Het
Stim1 T A 7: 102,078,034 (GRCm39) S179T Het
Syk A G 13: 52,765,131 (GRCm39) D86G probably benign Het
Tmem132b T G 5: 125,864,074 (GRCm39) S727A probably benign Het
Trim42 T A 9: 97,245,201 (GRCm39) Y533F probably benign Het
Trpm6 A T 19: 18,853,377 (GRCm39) D1799V possibly damaging Het
Ube4a A T 9: 44,844,734 (GRCm39) I839N probably damaging Het
Ugt2b36 A G 5: 87,228,831 (GRCm39) I404T probably damaging Het
Ushbp1 T A 8: 71,843,568 (GRCm39) Q290L possibly damaging Het
Vcl T A 14: 21,045,114 (GRCm39) I273K probably damaging Het
Vmn2r73 T A 7: 85,521,147 (GRCm39) I274L probably benign Het
Zc3h7b A G 15: 81,677,851 (GRCm39) D945G possibly damaging Het
Zfp454 A G 11: 50,774,580 (GRCm39) L31P probably damaging Het
Zfp536 C A 7: 37,269,117 (GRCm39) V100L probably damaging Het
Zfp942 A T 17: 22,147,818 (GRCm39) S270R probably benign Het
Other mutations in Dcaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Dcaf1 APN 9 106,735,532 (GRCm39) missense probably benign 0.45
IGL01314:Dcaf1 APN 9 106,711,390 (GRCm39) missense probably benign 0.07
IGL01395:Dcaf1 APN 9 106,735,361 (GRCm39) missense possibly damaging 0.73
IGL01936:Dcaf1 APN 9 106,736,800 (GRCm39) missense possibly damaging 0.81
IGL02089:Dcaf1 APN 9 106,740,310 (GRCm39) missense probably benign 0.40
IGL02596:Dcaf1 APN 9 106,740,220 (GRCm39) missense probably damaging 1.00
IGL02828:Dcaf1 APN 9 106,721,501 (GRCm39) splice site probably benign
IGL03036:Dcaf1 APN 9 106,721,339 (GRCm39) missense probably damaging 1.00
IGL03327:Dcaf1 APN 9 106,735,823 (GRCm39) missense possibly damaging 0.79
Americano UTSW 9 106,757,158 (GRCm39) nonsense probably null
Latte UTSW 9 106,723,971 (GRCm39) nonsense probably null
IGL02799:Dcaf1 UTSW 9 106,735,139 (GRCm39) missense probably benign 0.42
P0023:Dcaf1 UTSW 9 106,737,650 (GRCm39) missense probably benign 0.40
R0087:Dcaf1 UTSW 9 106,740,288 (GRCm39) missense probably damaging 1.00
R0164:Dcaf1 UTSW 9 106,721,344 (GRCm39) missense possibly damaging 0.94
R0164:Dcaf1 UTSW 9 106,721,344 (GRCm39) missense possibly damaging 0.94
R0562:Dcaf1 UTSW 9 106,721,321 (GRCm39) splice site probably benign
R0690:Dcaf1 UTSW 9 106,723,848 (GRCm39) splice site probably benign
R1373:Dcaf1 UTSW 9 106,735,079 (GRCm39) missense probably benign 0.18
R1508:Dcaf1 UTSW 9 106,731,376 (GRCm39) missense probably damaging 1.00
R1765:Dcaf1 UTSW 9 106,741,793 (GRCm39) missense probably damaging 1.00
R1845:Dcaf1 UTSW 9 106,729,161 (GRCm39) missense probably benign 0.01
R2016:Dcaf1 UTSW 9 106,716,287 (GRCm39) missense probably benign 0.41
R2017:Dcaf1 UTSW 9 106,725,122 (GRCm39) missense probably damaging 0.99
R2017:Dcaf1 UTSW 9 106,716,287 (GRCm39) missense probably benign 0.41
R2246:Dcaf1 UTSW 9 106,731,376 (GRCm39) missense possibly damaging 0.94
R2321:Dcaf1 UTSW 9 106,715,672 (GRCm39) missense probably benign 0.04
R4528:Dcaf1 UTSW 9 106,721,403 (GRCm39) missense probably damaging 1.00
R4646:Dcaf1 UTSW 9 106,724,006 (GRCm39) missense probably benign 0.27
R4648:Dcaf1 UTSW 9 106,742,876 (GRCm39) unclassified probably benign
R4742:Dcaf1 UTSW 9 106,735,754 (GRCm39) missense probably benign 0.00
R5876:Dcaf1 UTSW 9 106,740,849 (GRCm39) missense probably damaging 1.00
R5926:Dcaf1 UTSW 9 106,715,561 (GRCm39) missense probably benign 0.02
R6057:Dcaf1 UTSW 9 106,731,446 (GRCm39) missense probably damaging 0.99
R6335:Dcaf1 UTSW 9 106,715,845 (GRCm39) missense possibly damaging 0.63
R6518:Dcaf1 UTSW 9 106,712,788 (GRCm39) missense probably damaging 1.00
R6812:Dcaf1 UTSW 9 106,735,268 (GRCm39) missense probably damaging 1.00
R6829:Dcaf1 UTSW 9 106,715,803 (GRCm39) missense probably damaging 0.97
R6972:Dcaf1 UTSW 9 106,723,971 (GRCm39) nonsense probably null
R7175:Dcaf1 UTSW 9 106,735,775 (GRCm39) missense probably benign 0.32
R7734:Dcaf1 UTSW 9 106,715,878 (GRCm39) missense probably damaging 1.00
R8179:Dcaf1 UTSW 9 106,735,115 (GRCm39) missense probably damaging 1.00
R8230:Dcaf1 UTSW 9 106,735,914 (GRCm39) missense probably damaging 0.99
R8247:Dcaf1 UTSW 9 106,731,427 (GRCm39) missense possibly damaging 0.51
R8440:Dcaf1 UTSW 9 106,725,073 (GRCm39) missense possibly damaging 0.94
R8543:Dcaf1 UTSW 9 106,735,277 (GRCm39) missense probably benign 0.06
R8674:Dcaf1 UTSW 9 106,740,896 (GRCm39) missense probably damaging 1.00
R8728:Dcaf1 UTSW 9 106,724,005 (GRCm39) missense possibly damaging 0.92
R8807:Dcaf1 UTSW 9 106,742,268 (GRCm39) missense probably benign 0.05
R8883:Dcaf1 UTSW 9 106,724,839 (GRCm39) intron probably benign
R8953:Dcaf1 UTSW 9 106,735,542 (GRCm39) missense possibly damaging 0.66
R9018:Dcaf1 UTSW 9 106,742,836 (GRCm39) missense probably damaging 1.00
R9113:Dcaf1 UTSW 9 106,712,831 (GRCm39) splice site probably benign
R9300:Dcaf1 UTSW 9 106,725,042 (GRCm39) missense possibly damaging 0.92
R9414:Dcaf1 UTSW 9 106,757,158 (GRCm39) nonsense probably null
R9428:Dcaf1 UTSW 9 106,735,528 (GRCm39) missense possibly damaging 0.52
R9486:Dcaf1 UTSW 9 106,735,916 (GRCm39) missense possibly damaging 0.88
R9685:Dcaf1 UTSW 9 106,713,818 (GRCm39) missense probably benign 0.01
R9700:Dcaf1 UTSW 9 106,735,524 (GRCm39) missense probably benign 0.01
R9760:Dcaf1 UTSW 9 106,751,466 (GRCm39) missense unknown
X0019:Dcaf1 UTSW 9 106,711,358 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGGCAGGAGTAAGATTCTACCTC -3'
(R):5'- AAAGTTCTCTCTGTCACCATGC -3'

Sequencing Primer
(F):5'- TCCAGCTTCAAGAAGTGG -3'
(R):5'- GTCACCATGCTTTGCTGAC -3'
Posted On 2019-10-24