Mutagenetix > Incidental Mutation

Incidental Mutation 'R6782:Dcaf7'

531481

Institutional Source

Beutler Lab

Gene Symbol

Dcaf7

Ensembl Gene

ENSMUSG00000049354

Gene Name

DDB1 and CUL4 associated factor 7

Synonyms

2610037L01Rik, Wdr68, 1700012F10Rik

MMRRC Submission

044896-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6782 (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 105945581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 310 (Y310C)

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

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

AlphaFold

P61963

Predicted Effect

probably damaging
Transcript: ENSMUST00000058438
AA Change: Y310C

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

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: Y310C

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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,847,308 (GRCm39)	A724V	probably damaging	Het
Abcc3	A	T	11: 94,249,776 (GRCm39)	F1055L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd17	T	C	5: 90,402,597 (GRCm39)	K1488R	possibly damaging	Het
Ano1	G	A	7: 144,175,424 (GRCm39)	T498I	probably damaging	Het
Arhgap42	T	A	9: 9,115,721 (GRCm39)	K118N	probably damaging	Het
Arl5b	A	G	2: 15,077,993 (GRCm39)	E106G	probably damaging	Het
Atp5mc3	C	T	2: 73,739,672 (GRCm39)	R56Q	probably benign	Het
Bbx	T	C	16: 50,020,928 (GRCm39)	R749G	probably benign	Het
Cacna1g	A	G	11: 94,350,376 (GRCm39)	S490P	probably damaging	Het
Ccdc63	A	T	5: 122,249,077 (GRCm39)	Y417*	probably null	Het
Cep162	A	T	9: 87,093,737 (GRCm39)	N880K	probably benign	Het
Chd2	G	A	7: 73,125,127 (GRCm39)	Q77*	probably null	Het
Cntrl	T	G	2: 35,060,658 (GRCm39)	M1397R	possibly damaging	Het
Dnah5	T	A	15: 28,449,302 (GRCm39)	S4235T	possibly damaging	Het
Dot1l	C	T	10: 80,625,224 (GRCm39)	P1157L	probably damaging	Het
Esco2	T	C	14: 66,057,465 (GRCm39)	T577A	probably benign	Het
Foxp1	T	C	6: 98,907,106 (GRCm39)	D624G	probably damaging	Het
Gfi1	A	T	5: 107,873,819 (GRCm39)		probably null	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm5113	G	A	7: 29,878,178 (GRCm39)	V89I	probably benign	Het
Gtf3c2	A	C	5: 31,327,180 (GRCm39)	L382R	probably benign	Het
H3c2	T	C	13: 23,936,393 (GRCm39)	S11P	probably benign	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Htr5b	T	C	1: 121,438,227 (GRCm39)	I335V	probably benign	Het
Ifi206	A	G	1: 173,308,923 (GRCm39)	S358P	unknown	Het
Loxhd1	T	A	18: 77,518,873 (GRCm39)	V1893D	probably damaging	Het
Mical2	A	G	7: 111,945,968 (GRCm39)	R11G	probably damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Npr1	T	C	3: 90,363,560 (GRCm39)	N821S	probably benign	Het
Or4g16	A	G	2: 111,137,090 (GRCm39)	D180G	probably damaging	Het
Or52a24	A	G	7: 103,381,549 (GRCm39)	T139A	possibly damaging	Het
Or5p63	T	C	7: 107,811,670 (GRCm39)	D22G	probably benign	Het
Or5p70	T	G	7: 107,994,744 (GRCm39)	M139R	probably damaging	Het
Pi4ka	T	A	16: 17,143,852 (GRCm39)	D739V	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Ptprd	T	C	4: 76,243,377 (GRCm39)		probably null	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Ric8b	T	C	10: 84,783,391 (GRCm39)	V83A	probably damaging	Het
Sdc2	C	A	15: 33,028,281 (GRCm39)	T133K	probably damaging	Het
Slc12a7	T	A	13: 73,947,088 (GRCm39)	V592D	probably damaging	Het
Sorcs1	G	T	19: 50,164,560 (GRCm39)	Y990*	probably null	Het
Spata13	G	T	14: 60,928,912 (GRCm39)	G157W	probably damaging	Het
Tada1	A	G	1: 166,217,541 (GRCm39)	N226S	probably benign	Het
Tenm3	A	G	8: 49,099,291 (GRCm39)		probably null	Het
Tll1	A	G	8: 64,524,315 (GRCm39)	V457A	probably benign	Het
Tmem232	T	C	17: 65,807,119 (GRCm39)	K25E	possibly damaging	Het
Tnrc18	T	C	5: 142,773,063 (GRCm39)	S406G	unknown	Het
Ush2a	A	G	1: 188,089,031 (GRCm39)	M329V	probably benign	Het
Vmn2r107	T	C	17: 20,577,141 (GRCm39)	S380P	probably damaging	Het
Vmn2r73	A	G	7: 85,519,563 (GRCm39)	M465T	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp217	T	C	2: 169,958,178 (GRCm39)	D463G	probably damaging	Het
Zfp345	T	C	2: 150,315,274 (GRCm39)	S88G	probably damaging	Het
Zfp975	A	C	7: 42,311,454 (GRCm39)	N386K	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
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'- CCCTTTCACAAAGCTTTGATGAAC -3'
(R):5'- TTCTACAGCAGCTTCTGAACAC -3'

Sequencing Primer
(F):5'- AGCTTTGATGAACAAATGTTTCAC -3'
(R):5'- ATACTGGCCACTGGGAACATGTTC -3'

Posted On

2018-08-29