Incidental Mutation 'R6167:Dcaf7'
ID 490204
Institutional Source Beutler Lab
Gene Symbol Dcaf7
Ensembl Gene ENSMUSG00000049354
Gene Name DDB1 and CUL4 associated factor 7
Synonyms 2610037L01Rik, Wdr68, 1700012F10Rik
MMRRC Submission 044313-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6167 (G1)
Quality Score 187.009
Status Not validated
Chromosome 11
Chromosomal Location 105927698-105950150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105928077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 43 (Y43F)
Ref Sequence ENSEMBL: ENSMUSP00000058168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001965] [ENSMUST00000058438] [ENSMUST00000106903] [ENSMUST00000145539]
AlphaFold P61963
Predicted Effect probably benign
Transcript: ENSMUST00000001965
SMART Domains Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901

DomainStartEndE-ValueType
Blast:PAS 13 87 2e-43 BLAST
PAC 93 135 4.06e-2 SMART
low complexity region 139 152 N/A INTRINSIC
low complexity region 158 173 N/A INTRINSIC
Pfam:Ion_trans 256 523 6.8e-40 PFAM
Pfam:Ion_trans_2 445 517 2.6e-13 PFAM
cNMP 594 712 3.21e-23 SMART
coiled coil region 782 809 N/A INTRINSIC
low complexity region 901 912 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000058438
AA Change: Y43F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: Y43F

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 probably benign
Transcript: ENSMUST00000106903
SMART Domains Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901

DomainStartEndE-ValueType
Blast:PAS 13 87 3e-43 BLAST
PAC 93 135 4.06e-2 SMART
low complexity region 139 152 N/A INTRINSIC
low complexity region 158 173 N/A INTRINSIC
transmembrane domain 258 280 N/A INTRINSIC
Pfam:Ion_trans 302 420 6.2e-10 PFAM
Pfam:Ion_trans_2 395 464 2.6e-9 PFAM
cNMP 541 659 3.21e-23 SMART
coiled coil region 729 756 N/A INTRINSIC
low complexity region 848 859 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145539
SMART Domains Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901

DomainStartEndE-ValueType
Blast:PAS 13 87 3e-43 BLAST
PAC 93 135 4.06e-2 SMART
low complexity region 139 152 N/A INTRINSIC
low complexity region 158 173 N/A INTRINSIC
transmembrane domain 261 283 N/A INTRINSIC
Pfam:Ion_trans 302 511 1.4e-22 PFAM
Pfam:Ion_trans_2 442 517 2e-13 PFAM
cNMP 594 712 3.21e-23 SMART
low complexity region 764 775 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,182,931 (GRCm39) E1042V probably benign Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Aip T G 19: 4,165,188 (GRCm39) D227A probably benign Het
Ankrd13d T C 19: 4,323,081 (GRCm39) H283R probably damaging Het
Aox4 C T 1: 58,303,094 (GRCm39) T1175I probably damaging Het
Atn1 T C 6: 124,723,700 (GRCm39) probably benign Het
Camkk2 A G 5: 122,902,187 (GRCm39) S41P probably damaging Het
Ceacam16 G A 7: 19,595,182 (GRCm39) probably benign Het
Dcaf15 T C 8: 84,824,626 (GRCm39) N524D possibly damaging Het
Epha3 T C 16: 63,433,287 (GRCm39) I453V probably benign Het
Etv1 A T 12: 38,915,640 (GRCm39) T413S possibly damaging Het
Evx2 A C 2: 74,489,606 (GRCm39) L53R probably damaging Het
Fam168b G A 1: 34,858,684 (GRCm39) A166V probably damaging Het
Fancm A T 12: 65,141,669 (GRCm39) Y430F probably benign Het
Fyb2 A G 4: 104,802,661 (GRCm39) T188A possibly damaging Het
Gabbr1 T C 17: 37,374,271 (GRCm39) I538T probably damaging Het
Glyctk T A 9: 106,033,691 (GRCm39) T208S possibly damaging Het
Golga7 T C 8: 23,735,904 (GRCm39) D114G probably damaging Het
Grip1 T C 10: 119,733,702 (GRCm39) probably null Het
Gtf2f1 G T 17: 57,311,161 (GRCm39) S351R probably damaging Het
Hook2 T C 8: 85,721,642 (GRCm39) L300P probably damaging Het
Hsf4 A G 8: 105,997,481 (GRCm39) S45G probably damaging Het
Iars1 T A 13: 49,876,190 (GRCm39) M825K probably damaging Het
Kcnj2 A G 11: 110,963,315 (GRCm39) I236V probably benign Het
Large2 G A 2: 92,197,433 (GRCm39) T354I probably benign Het
Mak C A 13: 41,206,828 (GRCm39) V101F probably benign Het
Mylk2 A G 2: 152,757,673 (GRCm39) probably null Het
Myo18b A T 5: 113,020,373 (GRCm39) probably null Het
Neb T A 2: 52,037,249 (GRCm39) H2955L probably benign Het
Neurl1a G C 19: 47,228,367 (GRCm39) G71A probably damaging Het
Ogfrl1 A T 1: 23,415,309 (GRCm39) L142Q probably damaging Het
Or11g27 C A 14: 50,771,612 (GRCm39) H248N probably damaging Het
Or1e27-ps1 A G 11: 73,556,160 (GRCm39) T242A probably damaging Het
P3h4 C A 11: 100,302,671 (GRCm39) A322S probably damaging Het
Piwil2 A C 14: 70,660,342 (GRCm39) probably null Het
Pkd2l2 A G 18: 34,561,297 (GRCm39) D435G probably damaging Het
Plekha6 A G 1: 133,207,145 (GRCm39) N567S probably null Het
Prss54 G A 8: 96,286,173 (GRCm39) P300L possibly damaging Het
Pxdn G A 12: 30,024,000 (GRCm39) R67Q probably damaging Het
Rapgef3 C A 15: 97,665,292 (GRCm39) probably benign Het
Sec24b C T 3: 129,782,550 (GRCm39) G1147S possibly damaging Het
Sh2b3 A T 5: 121,966,418 (GRCm39) probably null Het
Sh3glb1 A T 3: 144,397,664 (GRCm39) D358E probably damaging Het
Shmt2 C T 10: 127,353,731 (GRCm39) R478H probably benign Het
Slc1a6 A G 10: 78,637,671 (GRCm39) E399G probably benign Het
Slc22a23 T A 13: 34,528,542 (GRCm39) Y80F probably damaging Het
Slc25a19 A G 11: 115,506,377 (GRCm39) V272A probably benign Het
Stk32a A T 18: 43,446,474 (GRCm39) D308V probably damaging Het
Tenm3 T C 8: 48,707,657 (GRCm39) I1698V possibly damaging Het
Thoc5 G A 11: 4,865,497 (GRCm39) V359M probably benign Het
Tmpo C T 10: 90,998,800 (GRCm39) R329H probably benign Het
Trim8 T C 19: 46,503,626 (GRCm39) S393P probably benign Het
Vill A T 9: 118,895,932 (GRCm39) Y103F probably damaging Het
Zfp948 T G 17: 21,807,911 (GRCm39) F368V probably benign Het
Zpld1 C T 16: 55,053,962 (GRCm39) E277K probably damaging 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
R6192:Dcaf7 UTSW 11 105,942,584 (GRCm39) missense probably damaging 1.00
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'- TGCCCGAGCTGGTTTGAAAC -3'
(R):5'- ATGTCACAACACCGTGCCTC -3'

Sequencing Primer
(F):5'- AGTGTGTGTAGCCGAGGACC -3'
(R):5'- CCCGGCTGTCAAAACTAAATAAGAGG -3'
Posted On 2017-10-10