Incidental Mutation 'R6057:Dcaf1'
ID 482980
Institutional Source Beutler Lab
Gene Symbol Dcaf1
Ensembl Gene ENSMUSG00000040325
Gene Name DDB1 and CUL4 associated factor 1
Synonyms B930007L02Rik, Vprbp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6057 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 106699073-106758191 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106731446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 641 (E641G)
Ref Sequence ENSEMBL: ENSMUSP00000125730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055009] [ENSMUST00000159645] [ENSMUST00000161758]
AlphaFold Q80TR8
Predicted Effect probably damaging
Transcript: ENSMUST00000055009
AA Change: E641G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: E641G

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 damaging
Transcript: ENSMUST00000159645
AA Change: E641G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: E641G

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 damaging
Transcript: ENSMUST00000161758
AA Change: E641G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: E641G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188343
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A G 6: 52,156,500 (GRCm39) probably benign Het
Acan A G 7: 78,749,530 (GRCm39) S11G probably null Het
Ankrd13d A C 19: 4,332,256 (GRCm39) V56G probably damaging Het
Arl15 A G 13: 114,104,151 (GRCm39) Y76C probably damaging Het
Aspg G A 12: 112,087,432 (GRCm39) C296Y probably damaging Het
Astl T A 2: 127,187,889 (GRCm39) D101E probably benign Het
Bmpr2 A G 1: 59,881,977 (GRCm39) N202S probably benign Het
Borcs7 T C 19: 46,690,003 (GRCm39) *106Q probably null Het
Brip1 A G 11: 85,955,865 (GRCm39) S883P possibly damaging Het
Cacng2 A T 15: 78,002,991 (GRCm39) L34Q probably damaging Het
Catip A C 1: 74,402,077 (GRCm39) D84A probably damaging Het
Ccdc162 A G 10: 41,510,037 (GRCm39) L856S possibly damaging Het
Ccdc38 A G 10: 93,417,608 (GRCm39) K500E probably damaging Het
Ccser2 T C 14: 36,663,122 (GRCm39) K21E probably damaging Het
Cd93 A T 2: 148,283,439 (GRCm39) Y636N probably damaging Het
Cep128 A T 12: 91,262,998 (GRCm39) N300K possibly damaging Het
Cfap44 A G 16: 44,269,460 (GRCm39) T1155A probably benign Het
Clec16a T C 16: 10,447,951 (GRCm39) L550P probably damaging Het
Csmd3 T C 15: 47,618,787 (GRCm39) Y1867C probably damaging Het
Cul3 A T 1: 80,249,249 (GRCm39) I674N probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2d34 T C 15: 82,500,552 (GRCm39) H429R probably benign Het
Dab2ip T A 2: 35,582,267 (GRCm39) C4* probably null Het
Dda1 T A 8: 71,927,276 (GRCm39) probably benign Het
Dmgdh C T 13: 93,888,960 (GRCm39) T866I probably benign Het
Ect2l T C 10: 18,037,250 (GRCm39) T383A probably benign Het
Ets2 A G 16: 95,515,416 (GRCm39) N181D probably benign Het
Ezh2 A G 6: 47,529,357 (GRCm39) F222L probably damaging Het
Frem3 T C 8: 81,342,216 (GRCm39) L1503P probably damaging Het
Fsip2 C A 2: 82,809,777 (GRCm39) A2032E probably damaging Het
Gm1818 C T 12: 48,602,346 (GRCm39) noncoding transcript Het
Gm9493 A G 19: 23,597,106 (GRCm39) S1G probably damaging Het
Grin2b A G 6: 135,710,942 (GRCm39) I868T possibly damaging Het
Ift22 A T 5: 136,939,987 (GRCm39) T17S possibly damaging Het
Il4ra T C 7: 125,170,735 (GRCm39) W216R probably damaging Het
Kcnj6 A T 16: 94,633,236 (GRCm39) W274R probably damaging Het
Kctd19 G A 8: 106,123,082 (GRCm39) H111Y probably damaging Het
Kremen2 A G 17: 23,961,679 (GRCm39) V276A probably benign Het
Lig1 C A 7: 13,022,598 (GRCm39) Q143K probably damaging Het
Lrp1 A T 10: 127,403,359 (GRCm39) D2071E probably damaging Het
Macf1 C T 4: 123,404,536 (GRCm39) M475I probably damaging Het
Mbtd1 G A 11: 93,820,485 (GRCm39) A427T probably damaging Het
Myof A G 19: 37,915,429 (GRCm39) probably null Het
Nbeal2 T C 9: 110,470,945 (GRCm39) D308G possibly damaging Het
Ncdn T C 4: 126,638,824 (GRCm39) Q665R probably benign Het
Nkd1 T C 8: 89,316,442 (GRCm39) probably null Het
Nktr G A 9: 121,577,455 (GRCm39) probably benign Het
Npc1l1 A T 11: 6,167,806 (GRCm39) M995K possibly damaging Het
Or10ag59 C A 2: 87,406,363 (GRCm39) R312S probably benign Het
Or11g7 A T 14: 50,691,201 (GRCm39) R231* probably null Het
Or14n1-ps1 T A 7: 86,092,397 (GRCm39) C69* probably null Het
Padi4 T C 4: 140,487,351 (GRCm39) T184A probably damaging Het
Pgm2l1 C T 7: 99,915,881 (GRCm39) P409S probably benign Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Pgr T C 9: 8,902,006 (GRCm39) L513P probably damaging Het
Pikfyve T A 1: 65,311,730 (GRCm39) I1989N probably damaging Het
Prrc2a T C 17: 35,371,716 (GRCm39) T1806A probably benign Het
Psd T C 19: 46,311,753 (GRCm39) E309G possibly damaging Het
Qtrt1 C T 9: 21,323,299 (GRCm39) T50I probably damaging Het
Rims2 A C 15: 39,538,416 (GRCm39) T1320P probably damaging Het
Scn11a T G 9: 119,594,514 (GRCm39) N1293T probably damaging Het
Scn8a T C 15: 100,872,548 (GRCm39) F529S possibly damaging Het
Sec14l4 A T 11: 3,985,142 (GRCm39) D25V possibly damaging Het
Sema3a C T 5: 13,615,832 (GRCm39) R419C probably damaging Het
Slc12a1 T C 2: 125,032,133 (GRCm39) Y595H probably damaging Het
Slc25a28 A T 19: 43,655,364 (GRCm39) H170Q possibly damaging Het
Slc26a1 T A 5: 108,821,631 (GRCm39) Q86L probably damaging Het
Slc48a1 T A 15: 97,687,798 (GRCm39) W51R probably damaging Het
Sptlc3 T A 2: 139,423,533 (GRCm39) V309D probably damaging Het
Srcap G A 7: 127,140,528 (GRCm39) S1375N probably damaging Het
Tanc1 C A 2: 59,647,837 (GRCm39) H986Q possibly damaging Het
Tbc1d4 A G 14: 101,727,353 (GRCm39) V486A probably damaging Het
Tceanc2 T C 4: 107,004,776 (GRCm39) D124G probably damaging Het
Tdrd9 A G 12: 111,979,720 (GRCm39) M402V possibly damaging Het
Tmem132d T C 5: 127,861,934 (GRCm39) D729G probably damaging Het
Tmem62 T A 2: 120,807,943 (GRCm39) I55N probably damaging Het
Tnfrsf21 A T 17: 43,350,606 (GRCm39) N257Y possibly damaging Het
Trappc3 T C 4: 126,167,834 (GRCm39) L131P probably damaging Het
Vmn2r25 A T 6: 123,799,900 (GRCm39) M814K possibly damaging Het
Vmn2r87 T C 10: 130,308,226 (GRCm39) I671V probably benign Het
Vwa8 A T 14: 79,320,313 (GRCm39) D1108V probably benign Het
Xrcc4 C G 13: 90,139,198 (GRCm39) A241P possibly damaging Het
Xylt1 T A 7: 117,191,135 (GRCm39) D310E probably benign Het
Zfp27 T G 7: 29,594,444 (GRCm39) H507P possibly damaging Het
Zfp341 C T 2: 154,466,954 (GRCm39) P108S probably benign Het
Zfp641 T C 15: 98,190,816 (GRCm39) N76S probably benign Het
Zfp936 T C 7: 42,839,787 (GRCm39) V418A 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
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
R7650:Dcaf1 UTSW 9 106,715,543 (GRCm39) missense probably benign 0.01
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'- CTGTTTAAATGGTGATTTCAACGTG -3'
(R):5'- ACAGACAATGGCAAGGTACTC -3'

Posted On 2017-07-14