Mutagenetix > Incidental Mutation

Incidental Mutation 'R6864:Dcaf7'

535823

Institutional Source

Beutler Lab

Gene Symbol

Dcaf7

Ensembl Gene

ENSMUSG00000049354

Gene Name

DDB1 and CUL4 associated factor 7

Synonyms

2610037L01Rik, Wdr68, 1700012F10Rik

MMRRC Submission

044964-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105927698-105950150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105937647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 90 (T90I)

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058438]

AlphaFold

P61963

Predicted Effect

probably damaging
Transcript: ENSMUST00000058438
AA Change: T90I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: T90I

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Anln	A	T	9: 22,293,545 (GRCm39)	S33T	probably benign	Het
Anxa6	T	C	11: 54,877,011 (GRCm39)	T541A	probably benign	Het
Atxn2	C	T	5: 121,917,557 (GRCm39)	R334W	probably damaging	Het
AU040320	T	A	4: 126,741,612 (GRCm39)	V940D	probably damaging	Het
Bcl2	A	T	1: 106,471,011 (GRCm39)	Y232N	probably damaging	Het
Bmp7	A	G	2: 172,781,855 (GRCm39)	V3A	probably benign	Het
Calr	A	T	8: 85,571,557 (GRCm39)	H145Q	probably damaging	Het
Camta2	T	A	11: 70,562,792 (GRCm39)	T976S	probably benign	Het
Ccnk	G	A	12: 108,168,473 (GRCm39)		probably benign	Het
Cntln	T	C	4: 85,015,029 (GRCm39)	S1107P	probably damaging	Het
Cradd	T	C	10: 95,011,789 (GRCm39)	D117G	probably damaging	Het
Defb30	T	A	14: 63,273,552 (GRCm39)		probably null	Het
Dock4	T	A	12: 40,795,745 (GRCm39)	I854N	probably damaging	Het
Dym	T	A	18: 75,189,809 (GRCm39)	Y132*	probably null	Het
Eef1a2	T	C	2: 180,791,477 (GRCm39)	T341A	probably benign	Het
Eml2	T	C	7: 18,930,206 (GRCm39)	V309A	probably damaging	Het
Flnb	C	T	14: 7,905,640 (GRCm38)	P1130L	possibly damaging	Het
Hivep3	C	A	4: 119,952,085 (GRCm39)	Q134K	possibly damaging	Het
Kbtbd2	T	A	6: 56,757,011 (GRCm39)	K242*	probably null	Het
Kel	A	G	6: 41,680,694 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,904,546 (GRCm39)	K177N	probably damaging	Het
Mbd3l2	A	G	9: 18,354,795 (GRCm39)		probably benign	Het
Mcm3ap	A	G	10: 76,343,313 (GRCm39)	D1735G	probably damaging	Het
Ms4a1	C	A	19: 11,230,542 (GRCm39)		probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mylk	C	A	16: 34,694,520 (GRCm39)	P193Q	probably benign	Het
Or1j11	T	A	2: 36,311,832 (GRCm39)	C141S	probably damaging	Het
Or2y16	G	T	11: 49,334,767 (GRCm39)	A30S	probably benign	Het
Or2y17	A	T	11: 49,231,580 (GRCm39)	T74S	probably damaging	Het
Or4d10b	A	T	19: 12,036,777 (GRCm39)	F113Y	probably damaging	Het
Or4f52	C	T	2: 111,061,542 (GRCm39)	V199I	probably benign	Het
Otogl	C	T	10: 107,663,667 (GRCm39)	S968N	probably damaging	Het
Oxr1	T	G	15: 41,686,783 (GRCm39)	V555G	probably damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Peg3	T	C	7: 6,715,761 (GRCm39)	Y103C	probably damaging	Het
Plekhh2	T	C	17: 84,925,427 (GRCm39)	V1408A	probably benign	Het
Prkacb	T	C	3: 146,451,133 (GRCm39)	Y204C	probably damaging	Het
Prkch	A	G	12: 73,806,391 (GRCm39)	E546G	probably damaging	Het
Prss12	C	A	3: 123,241,033 (GRCm39)	H76N	probably benign	Het
Rai14	G	T	15: 10,633,254 (GRCm39)	S45R	possibly damaging	Het
Samd9l	T	A	6: 3,374,750 (GRCm39)	D837V	probably benign	Het
Slc22a6	G	T	19: 8,595,805 (GRCm39)	C49F	probably damaging	Het
Slc2a2	T	A	3: 28,775,874 (GRCm39)	I328N	probably damaging	Het
Slc35f4	T	C	14: 49,556,310 (GRCm39)	I148V	possibly damaging	Het
Stk32b	A	T	5: 37,606,149 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,115 (GRCm39)	F525I	probably damaging	Het
Tktl2	T	C	8: 66,964,991 (GRCm39)	I183T	probably damaging	Het
Tmem175	A	C	5: 108,793,845 (GRCm39)	H325P	probably damaging	Het
Tns3	A	G	11: 8,443,196 (GRCm39)	V389A	probably damaging	Het
Trappc9	A	T	15: 72,809,011 (GRCm39)		probably null	Het
Trim28	T	A	7: 12,763,385 (GRCm39)	F509I	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,713 (GRCm39)	Q191L	probably benign	Het
Vmn2r24	A	T	6: 123,756,117 (GRCm39)	D63V	possibly damaging	Het
Zfp536	A	G	7: 37,267,940 (GRCm39)	L492P	probably damaging	Het
Zfp831	C	A	2: 174,488,533 (GRCm39)	N1069K	possibly damaging	Het
Zfp943	T	A	17: 22,211,593 (GRCm39)	H226Q	probably damaging	Het

Other mutations in Dcaf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACTCAGTGTAGTCGTGTCAAGAC -3'
(R):5'- TGAAACAAGGTCAGTCCACAG -3'

Sequencing Primer
(F):5'- GACCAGAAATCTGATGTGTTTGATCC -3'
(R):5'- AAGGTCAGTCCACAGGCACG -3'

Posted On

2018-10-18