Mutagenetix > Incidental Mutation

Incidental Mutation 'R8489:Dcaf7'

657902

Institutional Source

Beutler Lab

Gene Symbol

Dcaf7

Ensembl Gene

ENSMUSG00000049354

Gene Name

DDB1 and CUL4 associated factor 7

Synonyms

2610037L01Rik, Wdr68, 1700012F10Rik

MMRRC Submission

067932-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105927698-105950150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105942743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 230 (N230S)

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

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

AlphaFold

P61963

Predicted Effect

probably damaging
Transcript: ENSMUST00000058438
AA Change: N230S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: N230S

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI661453	C	A	17: 47,777,254 (GRCm39)		probably benign	Het
Apc2	T	G	10: 80,143,298 (GRCm39)	L466R	probably damaging	Het
Baz1b	C	A	5: 135,245,709 (GRCm39)	P386H	probably damaging	Het
Ccdc149	T	C	5: 52,533,999 (GRCm39)	D389G	probably benign	Het
Cit	T	A	5: 116,083,962 (GRCm39)		probably null	Het
Cmas	C	A	6: 142,702,596 (GRCm39)	A33E	probably benign	Het
Dcun1d5	C	A	9: 7,206,837 (GRCm39)		probably benign	Het
Dennd5b	T	A	6: 148,986,389 (GRCm39)	D58V	probably benign	Het
Dmrt2	C	A	19: 25,655,831 (GRCm39)	Q477K	probably damaging	Het
Eva1c	A	G	16: 90,672,999 (GRCm39)	N90S	probably damaging	Het
Fcgbp	A	T	7: 27,804,435 (GRCm39)	I1848F	possibly damaging	Het
Fgfr2	T	G	7: 129,769,534 (GRCm39)	M522L	probably benign	Het
Fshr	C	A	17: 89,293,795 (GRCm39)	K294N	probably benign	Het
Gja10	T	C	4: 32,601,866 (GRCm39)	I173V	probably benign	Het
Gmnn	A	G	13: 24,941,614 (GRCm39)	S32P	probably damaging	Het
Hdac9	T	C	12: 34,487,180 (GRCm39)	N95D	probably damaging	Het
Ipo13	T	C	4: 117,758,219 (GRCm39)	T715A	probably damaging	Het
Klrc2	A	G	6: 129,635,787 (GRCm39)	S97P	probably benign	Het
Lrrn4	G	A	2: 132,721,364 (GRCm39)	S151L	probably benign	Het
Man2a1	G	T	17: 64,908,765 (GRCm39)	S12I	possibly damaging	Het
Mplkipl1	T	C	19: 61,164,085 (GRCm39)	T117A	probably damaging	Het
Mrgprb8	T	A	7: 48,038,701 (GRCm39)	V124E	possibly damaging	Het
Myo5c	T	C	9: 75,180,128 (GRCm39)	W690R	probably damaging	Het
Ncapd2	T	C	6: 125,150,745 (GRCm39)	K817E	probably damaging	Het
Or51k2	T	C	7: 103,596,328 (GRCm39)	I185T	probably damaging	Het
Or5h27	A	G	16: 59,006,400 (GRCm39)	*149Q	probably null	Het
Or5p60	T	A	7: 107,724,372 (GRCm39)	I33F	probably benign	Het
Or8b50	T	C	9: 38,518,232 (GRCm39)	M157T	probably benign	Het
Pcdh18	A	T	3: 49,709,038 (GRCm39)	I759N	probably damaging	Het
Pcdhac2	A	T	18: 37,278,207 (GRCm39)	N396Y	probably damaging	Het
Pcm1	T	A	8: 41,766,437 (GRCm39)	C1542S	probably benign	Het
Pcsk1	T	A	13: 75,274,121 (GRCm39)	V450E	probably damaging	Het
Pld2	A	G	11: 70,445,121 (GRCm39)	K574E	probably damaging	Het
Pramel52-ps	T	C	5: 94,531,551 (GRCm39)	L145P	probably damaging	Het
Psmc1	C	T	12: 100,089,356 (GRCm39)	R410C	probably benign	Het
Rad51b	C	T	12: 79,374,024 (GRCm39)	S201L	probably benign	Het
Rgs3	T	A	4: 62,544,733 (GRCm39)	L200Q	probably damaging	Het
Rims2	A	G	15: 39,479,846 (GRCm39)	M1293V	probably damaging	Het
Scin	C	T	12: 40,131,019 (GRCm39)	G298D	probably damaging	Het
Scn8a	C	A	15: 100,867,014 (GRCm39)	F123L	probably damaging	Het
Snapc3	G	A	4: 83,369,531 (GRCm39)	C353Y	probably damaging	Het
Sned1	C	A	1: 93,210,978 (GRCm39)	S231*	probably null	Het
Tex15	A	G	8: 34,067,574 (GRCm39)	T2335A	probably benign	Het
Tigd4	G	A	3: 84,502,526 (GRCm39)	G481D	probably benign	Het
Trank1	T	G	9: 111,219,343 (GRCm39)	F2027V	probably benign	Het
Ubr1	C	T	2: 120,711,548 (GRCm39)	A1449T	probably benign	Het
Ulk1	G	T	5: 110,947,002 (GRCm39)	Y89*	probably null	Het
Usp54	A	G	14: 20,611,604 (GRCm39)	F1071L	probably benign	Het
Utrn	C	T	10: 12,587,190 (GRCm39)	E949K	probably benign	Het
Vmn2r65	T	A	7: 84,589,964 (GRCm39)	T651S	possibly damaging	Het
Wdfy1	A	G	1: 79,739,368 (GRCm39)	L17P	probably damaging	Het
Zfp672	G	A	11: 58,220,681 (GRCm39)		probably benign	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
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
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'- TCCCCAACAGGTCTATGACATC -3'
(R):5'- TGATGCCAGGAAGACTCCAC -3'

Sequencing Primer
(F):5'- ACAGGTCTATGACATCGCCTTCAG -3'
(R):5'- ACTACACACTCTAACTTTTGACAATC -3'

Posted On

2021-01-18