Incidental Mutation 'R9018:Dcaf1'
ID 686144
Institutional Source Beutler Lab
Gene Symbol Dcaf1
Ensembl Gene ENSMUSG00000040325
Gene Name DDB1 and CUL4 associated factor 1
Synonyms B930007L02Rik, Vprbp
MMRRC Submission 068848-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9018 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 106699073-106758191 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106742836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1383 (C1383S)
Ref Sequence ENSEMBL: ENSMUSP00000123865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055009] [ENSMUST00000159645] [ENSMUST00000161758]
AlphaFold Q80TR8
Predicted Effect probably damaging
Transcript: ENSMUST00000055009
AA Change: C1383S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: C1383S

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: C1383S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: C1383S

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: ENSMUST00000161272
SMART Domains Protein: ENSMUSP00000125424
Gene: ENSMUSG00000032575

DomainStartEndE-ValueType
Pfam:Armet 1 51 2.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161758
AA Change: C1389S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: C1389S

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 0.1316 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,532 (GRCm39) E1552G probably damaging Het
Abca14 A T 7: 119,888,763 (GRCm39) K1236N probably benign Het
Adam3 A T 8: 25,184,292 (GRCm39) Y569* probably null Het
Adgrb2 A G 4: 129,907,659 (GRCm39) T998A probably benign Het
Adgre4 T A 17: 56,098,993 (GRCm39) H166Q probably benign Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Ankrd11 A G 8: 123,622,251 (GRCm39) S534P probably damaging Het
Atn1 C T 6: 124,722,661 (GRCm39) E805K unknown Het
Bsn T C 9: 107,994,488 (GRCm39) T596A probably benign Het
Cacnb4 C T 2: 52,324,706 (GRCm39) R452Q probably benign Het
Cdc123 C A 2: 5,849,683 (GRCm39) A13S probably benign Het
Chd7 G A 4: 8,847,083 (GRCm39) G1609S possibly damaging Het
Cp T A 3: 20,043,316 (GRCm39) C1035S probably damaging Het
Derl3 G A 10: 75,729,604 (GRCm39) V54I probably benign Het
Dgcr6 T C 16: 17,884,607 (GRCm39) L25P probably damaging Het
Dmrt2 A G 19: 25,650,985 (GRCm39) E57G probably benign Het
Dnaaf11 A T 15: 66,321,479 (GRCm39) S221T probably benign Het
Dst A G 1: 34,235,140 (GRCm39) K3562E probably damaging Het
Dyrk2 T C 10: 118,696,014 (GRCm39) T415A probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbln1 T C 15: 85,126,215 (GRCm39) I484T probably damaging Het
Greb1l T A 18: 10,542,004 (GRCm39) D1250E possibly damaging Het
Ift88 A C 14: 57,675,702 (GRCm39) K72Q probably benign Het
Impg1 T A 9: 80,301,474 (GRCm39) I228F probably benign Het
Itsn2 A G 12: 4,708,091 (GRCm39) N799S possibly damaging Het
Jade1 T A 3: 41,564,292 (GRCm39) C521S probably benign Het
Katna1 T G 10: 7,637,040 (GRCm39) L397R probably damaging Het
Kcnj15 A C 16: 95,097,129 (GRCm39) K250N probably damaging Het
Macc1 A G 12: 119,409,941 (GRCm39) I236M possibly damaging Het
Mapk13 C T 17: 28,996,760 (GRCm39) R276C probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mindy4 C T 6: 55,278,072 (GRCm39) H639Y possibly damaging Het
Mphosph9 A G 5: 124,436,713 (GRCm39) S544P probably benign Het
Muc4 T C 16: 32,582,910 (GRCm39) Y492H Het
Mybbp1a C T 11: 72,334,420 (GRCm39) T225I probably benign Het
Myo6 A T 9: 80,159,086 (GRCm39) K285I unknown Het
Nmd3 G A 3: 69,647,328 (GRCm39) V277I probably benign Het
Nol9 G C 4: 152,123,918 (GRCm39) R36P probably damaging Het
Nom1 A G 5: 29,639,712 (GRCm39) R13G possibly damaging Het
Nudt14 G A 12: 112,902,906 (GRCm39) H40Y probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or5b118 A T 19: 13,448,721 (GRCm39) H87L possibly damaging Het
Or8d1b T A 9: 38,887,687 (GRCm39) F238L probably benign Het
Pcnx4 T A 12: 72,603,437 (GRCm39) F492I probably damaging Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Pgghg A G 7: 140,524,579 (GRCm39) I309V probably benign Het
Phf12 C T 11: 77,914,510 (GRCm39) P651S possibly damaging Het
Pltp A G 2: 164,694,410 (GRCm39) L199P probably damaging Het
Pole T A 5: 110,437,675 (GRCm39) L78I probably benign Het
Ppm1d C A 11: 85,227,961 (GRCm39) H292Q probably damaging Het
Ppp2cb A C 8: 34,105,787 (GRCm39) I224L probably benign Het
Rabggta A T 14: 55,957,880 (GRCm39) I171N probably damaging Het
Rapgef5 A G 12: 117,712,132 (GRCm39) I740V probably damaging Het
Rb1cc1 G A 1: 6,319,490 (GRCm39) E970K probably benign Het
Rnh1 A T 7: 140,748,544 (GRCm39) V11D probably benign Het
Robo4 C T 9: 37,315,520 (GRCm39) T288I probably benign Het
Scmh1 A G 4: 120,362,514 (GRCm39) D250G probably benign Het
Sele T A 1: 163,881,248 (GRCm39) C483S probably damaging Het
Slc12a6 A G 2: 112,174,585 (GRCm39) probably benign Het
Slc5a4a A G 10: 76,002,546 (GRCm39) E234G possibly damaging Het
Smarca5 A G 8: 81,431,355 (GRCm39) L954P probably damaging Het
St7 T A 6: 17,906,494 (GRCm39) N413K probably damaging Het
Stam2 C T 2: 52,606,463 (GRCm39) V141I probably benign Het
Stim1 C T 7: 102,060,482 (GRCm39) T175I probably benign Het
Strap A G 6: 137,716,811 (GRCm39) N130S probably benign Het
Stxbp2 A G 8: 3,692,627 (GRCm39) probably benign Het
Sult3a2 T A 10: 33,655,689 (GRCm39) I97F probably benign Het
Tbc1d32 A T 10: 55,948,693 (GRCm39) N965K probably benign Het
Tle3 T A 9: 61,319,750 (GRCm39) I506N probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tvp23a A G 16: 10,264,846 (GRCm39) S22P probably damaging Het
Vmn2r82 A G 10: 79,232,539 (GRCm39) N846S probably damaging Het
Vmn2r83 A G 10: 79,316,020 (GRCm39) N472S probably damaging Het
Xpo7 G A 14: 70,944,864 (GRCm39) Q10* probably null Het
Zfp423 G C 8: 88,508,381 (GRCm39) S654R probably benign Het
Zfp646 A T 7: 127,478,243 (GRCm39) H140L probably benign Het
Zfp719 C A 7: 43,233,489 (GRCm39) 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
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
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'- GGCATAACATTTTGAGTCAGCC -3'
(R):5'- TGACAGAGTAGCTTCCCTATCTCC -3'

Sequencing Primer
(F):5'- CATTTTGAGTCAGCCAAGTAATTTTG -3'
(R):5'- GTTTCAGACATATTAACAGGTCTTCC -3'
Posted On 2021-10-11