Mutagenetix > Incidental Mutation

Incidental Mutation 'R9625:Dcaf7'

725105

Institutional Source

Beutler Lab

Gene Symbol

Dcaf7

Ensembl Gene

ENSMUSG00000049354

Gene Name

DDB1 and CUL4 associated factor 7

Synonyms

2610037L01Rik, Wdr68, 1700012F10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9625 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105927698-105950150 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 105942794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

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

AlphaFold

P61963

Predicted Effect

probably null
Transcript: ENSMUST00000058438

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354

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: 99.7%
20x: 99.0%

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
4930432M17Rik	A	G	3: 121,465,033 (GRCm39)	E23G	unknown	Het
Abhd5	A	G	9: 122,208,606 (GRCm39)	Y332C	probably damaging	Het
Adcyap1r1	A	T	6: 55,457,055 (GRCm39)	E262V	probably damaging	Het
Adgre5	A	G	8: 84,450,658 (GRCm39)	Y793H	probably damaging	Het
Arhgef33	A	T	17: 80,654,707 (GRCm39)	Y78F	possibly damaging	Het
Asl	G	A	5: 130,047,693 (GRCm39)	A91V	probably damaging	Het
Cd40	A	T	2: 164,905,061 (GRCm39)	I126F	probably benign	Het
Ceacam10	A	G	7: 24,476,705 (GRCm39)	E2G	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntnap3	A	T	13: 65,006,579 (GRCm39)	S78T	probably damaging	Het
Cntnap4	T	C	8: 113,602,181 (GRCm39)	V1195A	possibly damaging	Het
Cthrc1	T	C	15: 38,947,874 (GRCm39)	S198P	probably damaging	Het
Dhx16	A	G	17: 36,193,413 (GRCm39)	E252G	probably benign	Het
Efcab2	C	T	1: 178,302,505 (GRCm39)	T83I	possibly damaging	Het
Efhc1	A	G	1: 21,049,738 (GRCm39)	N533D	probably benign	Het
Emilin2	A	G	17: 71,581,112 (GRCm39)	V538A	probably benign	Het
Fam171b	A	T	2: 83,683,914 (GRCm39)	T144S	probably damaging	Het
Fam98a	A	G	17: 75,845,474 (GRCm39)	F424S	unknown	Het
Gm3573	T	C	14: 42,011,605 (GRCm39)	R42G	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,218,975 (GRCm39)	P23S	probably benign	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hoxb1	C	T	11: 96,256,810 (GRCm39)	A53V	probably benign	Het
Kalrn	T	A	16: 33,849,197 (GRCm39)		probably null	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Kif1a	C	T	1: 93,000,766 (GRCm39)	E287K	probably benign	Het
Lrrk1	A	T	7: 65,909,666 (GRCm39)	*2015K	probably null	Het
Ltbp1	G	T	17: 75,486,157 (GRCm39)	G61C	probably damaging	Het
Mthfd2l	A	G	5: 91,107,567 (GRCm39)	H143R	probably damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ncoa1	T	A	12: 4,345,643 (GRCm39)	Q568L	probably damaging	Het
Ncoa3	G	A	2: 165,899,130 (GRCm39)	S824N	probably benign	Het
Nfe2l3	A	T	6: 51,434,925 (GRCm39)	D495V	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp14	A	G	7: 106,782,169 (GRCm39)	I455M	probably benign	Het
Npb	T	C	11: 120,499,375 (GRCm39)	L14P	probably damaging	Het
Or51f1	C	T	7: 102,505,636 (GRCm39)	M284I	probably benign	Het
P2ry12	G	A	3: 59,125,496 (GRCm39)	R60C	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,419 (GRCm39)	L403*	probably null	Het
Phb2	G	A	6: 124,690,974 (GRCm39)	R44H	probably damaging	Het
Plekha5	A	T	6: 140,372,253 (GRCm39)	T68S	probably benign	Het
Ptprg	C	T	14: 12,152,027 (GRCm38)	R447W	probably damaging	Het
Ptprk	T	C	10: 28,462,006 (GRCm39)	Y1190H	probably damaging	Het
Ptpro	G	T	6: 137,371,873 (GRCm39)	C630F	probably damaging	Het
Rrp15	G	T	1: 186,453,718 (GRCm39)	P243Q	possibly damaging	Het
Smurf1	A	G	5: 144,830,920 (GRCm39)	F285S	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Tex44	T	C	1: 86,354,253 (GRCm39)	I54T	unknown	Het
Tom1l2	A	G	11: 60,161,277 (GRCm39)	V78A	probably damaging	Het
Vps11	A	G	9: 44,265,738 (GRCm39)	W514R	probably damaging	Het
Wnk2	C	A	13: 49,254,445 (GRCm39)	V357L	probably benign	Het
Zfp970	C	T	2: 177,167,790 (GRCm39)	Q455*	probably null	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
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
Z1177:Dcaf7	UTSW	11	105,944,621 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGGACATGTTTGCCTCTG -3'
(R):5'- TTACCCATGTGATGCCAGG -3'

Sequencing Primer
(F):5'- CCTCTGTGGGCGCTGATG -3'
(R):5'- TTACCCATGTGATGCCAGGAAGAC -3'

Posted On

2022-09-12