Mutagenetix > Incidental Mutations

Incidental Mutation 'R4656:Dcaf7'

352457

Institutional Source

Beutler Lab

Gene Symbol

Dcaf7

Ensembl Gene

ENSMUSG00000049354

Gene Name

DDB1 and CUL4 associated factor 7

Synonyms

1700012F10Rik, 2610037L01Rik, Wdr68

MMRRC Submission

041916-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106036872-106059324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106053798 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 269 (V269A)

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000058438
AA Change: V269A

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

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: V269A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135857

Meta Mutation Damage Score

0.9324

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (80/83)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	G	A	10: 77,981,616	R59H	probably benign	Het
2310003L06Rik	G	A	5: 87,964,675		probably benign	Het
4931406B18Rik	T	A	7: 43,501,141	H69L	probably benign	Het
Ace2	T	C	X: 164,153,114	S84P	probably benign	Het
Adgb	A	C	10: 10,405,306	N656K	probably damaging	Het
Ago3	G	T	4: 126,363,752	Y495*	probably null	Het
Ahnak	G	A	19: 9,004,855	V1168M	possibly damaging	Het
Armc10	A	G	5: 21,661,550	R271G	probably benign	Het
Atp4a	T	G	7: 30,719,948		probably benign	Het
C87499	T	C	4: 88,629,965	T68A	probably benign	Het
Casp1	C	T	9: 5,304,324	P333S	probably damaging	Het
Ceacam9	C	T	7: 16,723,649	A34V	probably benign	Het
Ces1b	C	G	8: 93,057,414	E488Q	probably damaging	Het
Ces2h	A	T	8: 105,014,639	T88S	possibly damaging	Het
Col2a1	C	T	15: 97,976,176	G1375D	unknown	Het
Cyp1a1	T	C	9: 57,702,610	F436L	probably damaging	Het
Disp2	T	C	2: 118,790,563	L592P	probably damaging	Het
Eda2r	T	A	X: 97,341,633	Q171L	probably damaging	Het
Egln2	A	G	7: 27,159,193	V408A	probably benign	Het
Gabpb2	A	G	3: 95,188,941	L325P	probably damaging	Het
Gigyf1	C	A	5: 137,525,215	Y936*	probably null	Het
Gm14149	A	T	2: 151,230,764		noncoding transcript	Het
Gnl2	C	T	4: 125,040,997	Q149*	probably null	Het
Gpr107	C	T	2: 31,214,249	T522M	probably damaging	Het
Grpr	T	A	X: 163,514,996	S351C	probably damaging	Het
Gsdma	T	C	11: 98,673,081	L287P	probably damaging	Het
Herc1	A	G	9: 66,394,711	T652A	probably damaging	Het
Ifi204	C	A	1: 173,760,361		probably benign	Het
Irx2	T	C	13: 72,631,298	S234P	probably damaging	Het
Itgal	T	A	7: 127,322,553	D808E	probably damaging	Het
Krt13	C	A	11: 100,119,363	R264L	probably damaging	Het
March1	T	A	8: 66,386,419	L38I	probably benign	Het
Megf9	T	C	4: 70,448,767	H326R	probably damaging	Het
Mif4gd	G	T	11: 115,608,337		probably benign	Het
Mroh9	A	T	1: 163,066,024	M194K	probably damaging	Het
Nhlrc3	A	G	3: 53,463,080	S22P	probably damaging	Het
Nipal2	A	T	15: 34,577,568		probably null	Het
Nr1h4	A	G	10: 89,498,253	S78P	probably benign	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr390	A	T	11: 73,787,511	D191V	probably damaging	Het
Olfr607	C	T	7: 103,460,488	R235Q	probably benign	Het
Olfr908	A	T	9: 38,516,556	N175Y	probably damaging	Het
Pdzd2	A	G	15: 12,385,711	V991A	probably benign	Het
Pex1	G	A	5: 3,604,880		probably null	Het
Plch1	G	T	3: 63,704,177	A859E	probably damaging	Het
Ranbp2	A	G	10: 58,453,422	K84R	possibly damaging	Het
Rbm14	T	C	19: 4,811,435	Y25C	probably damaging	Het
Rmi2	A	G	16: 10,835,322	D78G	probably damaging	Het
Serpina3k	C	A	12: 104,345,273	T370K	probably damaging	Het
Shc2	A	T	10: 79,621,169	L538M	probably damaging	Het
Skint1	A	G	4: 112,021,477	K202R	probably damaging	Het
Slc22a29	C	A	19: 8,218,300	S125I	possibly damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Slco4c1	A	T	1: 96,841,245	D297E	probably benign	Het
Slco6d1	T	C	1: 98,423,203	F136S	probably benign	Het
Smg1	A	T	7: 118,212,951	V39E	probably benign	Het
Spns1	G	T	7: 126,374,302		probably benign	Het
Spsb1	A	G	4: 149,906,410		probably null	Het
Sspo	T	G	6: 48,454,076	I631S	possibly damaging	Het
Syne2	T	C	12: 76,031,373	L4694P	probably damaging	Het
Taf5l	T	C	8: 123,998,105	E325G	probably benign	Het
Tars	A	T	15: 11,394,264	S96T	probably damaging	Het
Tdrd12	T	C	7: 35,485,254	K745E	probably damaging	Het
Tenm3	A	G	8: 48,293,726	Y1015H	probably damaging	Het
Trpv3	T	A	11: 73,295,414	M677K	probably damaging	Het
Txlnb	A	T	10: 17,815,276	K191N	probably damaging	Het
Ubr1	A	G	2: 120,926,013	V711A	probably benign	Het
Uqcrb	T	C	13: 66,901,539	T41A	probably benign	Het
Usp6nl	A	G	2: 6,441,162	Y627C	probably damaging	Het
Vezf1	A	G	11: 88,074,667	D245G	probably damaging	Het
Vmn2r66	A	G	7: 85,011,996	W9R	possibly damaging	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Wdr35	T	A	12: 9,016,619	M749K	probably benign	Het
Wrn	A	T	8: 33,335,991		probably null	Het
Zfy1	T	G	Y: 729,626	T339P	unknown	Het

Other mutations in Dcaf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Dcaf7	APN	11	106054746	missense	probably damaging	1.00
IGL01584:Dcaf7	APN	11	106053827	missense	probably benign	0.12
IGL02398:Dcaf7	APN	11	106053753	missense	probably benign	0.03
IGL02516:Dcaf7	APN	11	106051872	missense	probably damaging	1.00
IGL02672:Dcaf7	APN	11	106054858	utr 3 prime	probably benign
IGL02892:Dcaf7	APN	11	106046692	missense	possibly damaging	0.95
IGL02953:Dcaf7	APN	11	106051876	nonsense	probably null
R0179:Dcaf7	UTSW	11	106051797	missense	probably damaging	0.98
R0539:Dcaf7	UTSW	11	106051826	missense	probably damaging	0.98
R1471:Dcaf7	UTSW	11	106046747	missense	probably benign	0.01
R1647:Dcaf7	UTSW	11	106051802	missense	probably damaging	1.00
R1648:Dcaf7	UTSW	11	106051802	missense	probably damaging	1.00
R3551:Dcaf7	UTSW	11	106054796	missense	probably benign	0.00
R6167:Dcaf7	UTSW	11	106037251	missense	probably damaging	0.99
R6192:Dcaf7	UTSW	11	106051758	missense	probably damaging	1.00
R6782:Dcaf7	UTSW	11	106054755	missense	probably damaging	1.00
R6864:Dcaf7	UTSW	11	106046821	missense	probably damaging	1.00
R7155:Dcaf7	UTSW	11	106037190	missense	probably damaging	0.97
R7253:Dcaf7	UTSW	11	106047843	intron	probably null
R7446:Dcaf7	UTSW	11	106053735	missense	probably benign	0.04
R7631:Dcaf7	UTSW	11	106053753	missense	probably benign	0.03
Z1177:Dcaf7	UTSW	11	106053795	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTAGTGTTCTCGGATCCATAAAGG -3'
(R):5'- CCTGAACTATTGCCAATGAATGTG -3'

Sequencing Primer
(F):5'- GAAAAGACCATGCTTACAGTGCTGTG -3'
(R):5'- GGCACATGACTGTAACAGCATTCTG -3'

Posted On

2015-10-08