Incidental Mutation 'R6192:Dcaf7'
ID 502667
Institutional Source Beutler Lab
Gene Symbol Dcaf7
Ensembl Gene ENSMUSG00000049354
Gene Name DDB1 and CUL4 associated factor 7
Synonyms 2610037L01Rik, Wdr68, 1700012F10Rik
MMRRC Submission 044332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6192 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 105927698-105950150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105942584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 177 (V177A)
Ref Sequence ENSEMBL: ENSMUSP00000058168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058438]
AlphaFold P61963
Predicted Effect probably damaging
Transcript: ENSMUST00000058438
AA Change: V177A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: V177A

DomainStartEndE-ValueType
WD40 58 99 3.42e1 SMART
WD40 104 149 1.43e1 SMART
WD40 163 205 3.81e-5 SMART
WD40 211 251 1.1e2 SMART
WD40 255 295 8.88e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135857
Meta Mutation Damage Score 0.5204 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,774,002 (GRCm39) E1137G probably damaging Het
Adcy9 T C 16: 4,105,818 (GRCm39) I1099V probably benign Het
Angptl4 A T 17: 33,996,015 (GRCm39) N320K probably benign Het
Atp6v0a2 G A 5: 124,767,268 (GRCm39) M10I probably benign Het
Bltp1 C T 3: 37,042,318 (GRCm39) T2768I probably benign Het
Cbfa2t3 A G 8: 123,361,135 (GRCm39) S395P probably benign Het
Cenpe C T 3: 134,954,291 (GRCm39) T1716I possibly damaging Het
Chsy1 T C 7: 65,820,625 (GRCm39) Y287H probably benign Het
Col4a4 G T 1: 82,462,151 (GRCm39) P1075T probably damaging Het
Cryab T A 9: 50,665,813 (GRCm39) M68K probably damaging Het
Cybrd1 T A 2: 70,967,858 (GRCm39) L143Q probably null Het
Dclk2 T C 3: 86,722,457 (GRCm39) Y392C probably damaging Het
Ddx20 T C 3: 105,586,036 (GRCm39) T770A probably benign Het
Dennd1b T A 1: 139,095,456 (GRCm39) D501E probably benign Het
Dgkh A T 14: 78,865,504 (GRCm39) Y26* probably null Het
Dnajc2 A G 5: 21,973,646 (GRCm39) V196A probably damaging Het
Etl4 A G 2: 20,806,362 (GRCm39) K827E probably damaging Het
Fam8a1 C T 13: 46,823,099 (GRCm39) P13L probably damaging Het
Gfra3 T C 18: 34,837,582 (GRCm39) S139G possibly damaging Het
Ggnbp1 G A 17: 27,248,847 (GRCm39) V139I possibly damaging Het
Gja1 T A 10: 56,264,330 (GRCm39) Y230N probably damaging Het
Gldc A G 19: 30,111,172 (GRCm39) S535P probably damaging Het
Gm45871 A G 18: 90,610,357 (GRCm39) T532A probably benign Het
Gm5431 T A 11: 48,785,220 (GRCm39) D107V probably benign Het
Herc2 C T 7: 55,857,510 (GRCm39) T4031M probably damaging Het
Iffo2 G A 4: 139,333,769 (GRCm39) A282T probably damaging Het
Ifi44 T G 3: 151,451,276 (GRCm39) probably null Het
Igkv4-53 C T 6: 69,625,915 (GRCm39) R62H possibly damaging Het
Lrp11 A C 10: 7,474,454 (GRCm39) probably null Het
Lrp4 A G 2: 91,338,833 (GRCm39) T1755A probably benign Het
Mcm3ap A T 10: 76,336,934 (GRCm39) K1316M probably damaging Het
Mctp1 T G 13: 76,971,082 (GRCm39) probably null Het
Mroh5 A T 15: 73,662,630 (GRCm39) I396N probably damaging Het
Mrps5 T A 2: 127,443,305 (GRCm39) H294Q probably damaging Het
Muc16 A T 9: 18,569,985 (GRCm39) S845T unknown Het
Mycbpap A T 11: 94,398,557 (GRCm39) V474E probably damaging Het
Mzt2 G C 16: 15,666,551 (GRCm39) S122W probably benign Het
Neb T C 2: 52,146,802 (GRCm39) I2821V probably benign Het
Ngef A T 1: 87,415,622 (GRCm39) D347E probably damaging Het
Nlrp14 T C 7: 106,781,646 (GRCm39) V281A probably benign Het
Obscn A T 11: 58,888,864 (GRCm39) Y7597N unknown Het
Or4k47 T C 2: 111,451,520 (GRCm39) R300G possibly damaging Het
Patj G T 4: 98,344,394 (GRCm39) G569W probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Phf2 T A 13: 48,973,583 (GRCm39) T361S unknown Het
Pik3r6 A G 11: 68,434,455 (GRCm39) E552G probably damaging Het
Pitx2 A G 3: 129,009,521 (GRCm39) T147A probably benign Het
Pkmyt1 G A 17: 23,953,167 (GRCm39) G241D probably damaging Het
Pola2 A T 19: 6,003,802 (GRCm39) V191D possibly damaging Het
Ralgapb T A 2: 158,291,367 (GRCm39) probably null Het
Rapgef4 T C 2: 71,811,661 (GRCm39) S11P probably benign Het
Rnf10 G A 5: 115,395,136 (GRCm39) R151C probably damaging Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sbno2 A T 10: 79,895,850 (GRCm39) L977Q probably damaging Het
Sec14l3 G A 11: 4,025,566 (GRCm39) probably null Het
Serping1 A T 2: 84,600,612 (GRCm39) N243K possibly damaging Het
Slco2b1 T A 7: 99,334,779 (GRCm39) I231F probably damaging Het
Spag8 A G 4: 43,652,458 (GRCm39) F294S probably damaging Het
Speer4f1 G A 5: 17,684,493 (GRCm39) A174T probably damaging Het
Spred3 T C 7: 28,862,402 (GRCm39) D147G probably benign Het
Stard9 A G 2: 120,527,241 (GRCm39) D1166G probably damaging Het
Svep1 G T 4: 58,104,536 (GRCm39) T1229K possibly damaging Het
Tanc1 T A 2: 59,669,305 (GRCm39) probably null Het
Tmem232 T C 17: 65,737,800 (GRCm39) Y420C probably damaging Het
Tubd1 A T 11: 86,448,619 (GRCm39) M311L probably benign Het
Tulp3 G A 6: 128,332,703 (GRCm39) probably null Het
Usp42 T C 5: 143,702,942 (GRCm39) T560A possibly damaging Het
Vmn1r170 A T 7: 23,305,934 (GRCm39) Y112F probably damaging Het
Vmn2r4 A T 3: 64,322,699 (GRCm39) C7S probably benign Het
Wrn A G 8: 33,774,682 (GRCm39) M652T probably benign Het
Wsb1 G A 11: 79,139,336 (GRCm39) P120L possibly damaging Het
Zfp142 T C 1: 74,609,667 (GRCm39) E1376G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Dcaf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Dcaf7 APN 11 105,945,572 (GRCm39) missense probably damaging 1.00
IGL01584:Dcaf7 APN 11 105,944,653 (GRCm39) missense probably benign 0.12
IGL02398:Dcaf7 APN 11 105,944,579 (GRCm39) missense probably benign 0.03
IGL02516:Dcaf7 APN 11 105,942,698 (GRCm39) missense probably damaging 1.00
IGL02672:Dcaf7 APN 11 105,945,684 (GRCm39) utr 3 prime probably benign
IGL02892:Dcaf7 APN 11 105,937,518 (GRCm39) missense possibly damaging 0.95
IGL02953:Dcaf7 APN 11 105,942,702 (GRCm39) nonsense probably null
Camomile UTSW 11 105,945,548 (GRCm39) missense possibly damaging 0.93
Nescafe UTSW 11 105,942,623 (GRCm39) missense probably damaging 0.98
R0179:Dcaf7 UTSW 11 105,942,623 (GRCm39) missense probably damaging 0.98
R0539:Dcaf7 UTSW 11 105,942,652 (GRCm39) missense probably damaging 0.98
R1471:Dcaf7 UTSW 11 105,937,573 (GRCm39) missense probably benign 0.01
R1647:Dcaf7 UTSW 11 105,942,628 (GRCm39) missense probably damaging 1.00
R1648:Dcaf7 UTSW 11 105,942,628 (GRCm39) missense probably damaging 1.00
R3551:Dcaf7 UTSW 11 105,945,622 (GRCm39) missense probably benign 0.00
R4656:Dcaf7 UTSW 11 105,944,624 (GRCm39) missense probably damaging 1.00
R6167:Dcaf7 UTSW 11 105,928,077 (GRCm39) missense probably damaging 0.99
R6782:Dcaf7 UTSW 11 105,945,581 (GRCm39) missense probably damaging 1.00
R6864:Dcaf7 UTSW 11 105,937,647 (GRCm39) missense probably damaging 1.00
R7155:Dcaf7 UTSW 11 105,928,016 (GRCm39) missense probably damaging 0.97
R7253:Dcaf7 UTSW 11 105,938,669 (GRCm39) splice site probably null
R7446:Dcaf7 UTSW 11 105,944,561 (GRCm39) missense probably benign 0.04
R7631:Dcaf7 UTSW 11 105,944,579 (GRCm39) missense probably benign 0.03
R8109:Dcaf7 UTSW 11 105,937,604 (GRCm39) missense probably damaging 0.98
R8480:Dcaf7 UTSW 11 105,945,619 (GRCm39) missense probably benign 0.00
R8489:Dcaf7 UTSW 11 105,942,743 (GRCm39) missense probably damaging 1.00
R8731:Dcaf7 UTSW 11 105,945,548 (GRCm39) missense possibly damaging 0.93
R8927:Dcaf7 UTSW 11 105,942,752 (GRCm39) missense probably damaging 1.00
R8928:Dcaf7 UTSW 11 105,942,752 (GRCm39) missense probably damaging 1.00
R9625:Dcaf7 UTSW 11 105,942,794 (GRCm39) critical splice donor site probably null
Z1177:Dcaf7 UTSW 11 105,944,621 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TACAGAGTCCTATTCAGACCCC -3'
(R):5'- CATGGTGGCCAGGTAGTTAG -3'

Sequencing Primer
(F):5'- CGAGAGCATCTCAGGGTTTTAGAG -3'
(R):5'- CCAGGTAGTTAGGGTCCTGC -3'
Posted On 2018-02-27