Mutagenetix > Incidental Mutations

Incidental Mutation 'R8489:Dcaf7'

657902

Institutional Source

Beutler Lab

Gene Symbol

Dcaf7

Ensembl Gene

ENSMUSG00000049354

Gene Name

DDB1 and CUL4 associated factor 7

Synonyms

1700012F10Rik, 2610037L01Rik, Wdr68

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106036872-106059324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106051917 bp

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]

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
AA792892	T	C	5: 94,383,692	L145P	probably damaging	Het
AI661453	C	A	17: 47,466,329		probably benign	Het
Apc2	T	G	10: 80,307,464	L466R	probably damaging	Het
Baz1b	C	A	5: 135,216,855	P386H	probably damaging	Het
Ccdc149	T	C	5: 52,376,657	D389G	probably benign	Het
Cit	T	A	5: 115,945,903		probably null	Het
Cmas	C	A	6: 142,756,870	A33E	probably benign	Het
Dcun1d5	C	A	9: 7,206,837		probably benign	Het
Dennd5b	T	A	6: 149,084,891	D58V	probably benign	Het
Dmrt2	C	A	19: 25,678,467	Q477K	probably damaging	Het
Eva1c	A	G	16: 90,876,111	N90S	probably damaging	Het
Fcgbp	A	T	7: 28,105,010	I1848F	possibly damaging	Het
Fgfr2	T	G	7: 130,167,804	M522L	probably benign	Het
Fshr	C	A	17: 88,986,367	K294N	probably benign	Het
Gja10	T	C	4: 32,601,866	I173V	probably benign	Het
Gm7102	T	C	19: 61,175,647	T117A	probably damaging	Het
Gmnn	A	G	13: 24,757,631	S32P	probably damaging	Het
Hdac9	T	C	12: 34,437,181	N95D	probably damaging	Het
Ipo13	T	C	4: 117,901,022	T715A	probably damaging	Het
Klrc2	A	G	6: 129,658,824	S97P	probably benign	Het
Lrrn4	G	A	2: 132,879,444	S151L	probably benign	Het
Man2a1	G	T	17: 64,601,770	S12I	possibly damaging	Het
Mrgprb8	T	A	7: 48,388,953	V124E	possibly damaging	Het
Myo5c	T	C	9: 75,272,846	W690R	probably damaging	Het
Ncapd2	T	C	6: 125,173,782	K817E	probably damaging	Het
Olfr197	A	G	16: 59,186,037	*149Q	probably null	Het
Olfr484	T	A	7: 108,125,165	I33F	probably benign	Het
Olfr633	T	C	7: 103,947,121	I185T	probably damaging	Het
Olfr914	T	C	9: 38,606,936	M157T	probably benign	Het
Pcdh18	A	T	3: 49,754,589	I759N	probably damaging	Het
Pcdhac2	A	T	18: 37,145,154	N396Y	probably damaging	Het
Pcm1	T	A	8: 41,313,400	C1542S	probably benign	Het
Pcsk1	T	A	13: 75,126,002	V450E	probably damaging	Het
Pld2	A	G	11: 70,554,295	K574E	probably damaging	Het
Psmc1	C	T	12: 100,123,097	R410C	probably benign	Het
Rad51b	C	T	12: 79,327,250	S201L	probably benign	Het
Rgs3	T	A	4: 62,626,496	L200Q	probably damaging	Het
Rims2	A	G	15: 39,616,450	M1293V	probably damaging	Het
Scin	C	T	12: 40,081,020	G298D	probably damaging	Het
Scn8a	C	A	15: 100,969,133	F123L	probably damaging	Het
Snapc3	G	A	4: 83,451,294	C353Y	probably damaging	Het
Sned1	C	A	1: 93,283,256	S231*	probably null	Het
Tex15	A	G	8: 33,577,546	T2335A	probably benign	Het
Tigd4	G	A	3: 84,595,219	G481D	probably benign	Het
Trank1	T	G	9: 111,390,275	F2027V	probably benign	Het
Ubr1	C	T	2: 120,881,067	A1449T	probably benign	Het
Ulk1	G	T	5: 110,799,136	Y89*	probably null	Het
Usp54	A	G	14: 20,561,536	F1071L	probably benign	Het
Utrn	C	T	10: 12,711,446	E949K	probably benign	Het
Vmn2r65	T	A	7: 84,940,756	T651S	possibly damaging	Het
Wdfy1	A	G	1: 79,761,651	L17P	probably damaging	Het
Zfp672	G	A	11: 58,329,855		probably benign	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
R4656:Dcaf7	UTSW	11	106053798	missense	probably damaging	1.00
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	splice site	probably null
R7446:Dcaf7	UTSW	11	106053735	missense	probably benign	0.04
R7631:Dcaf7	UTSW	11	106053753	missense	probably benign	0.03
R8109:Dcaf7	UTSW	11	106046778	missense	probably damaging	0.98
R8480:Dcaf7	UTSW	11	106054793	missense	probably benign	0.00
R8731:Dcaf7	UTSW	11	106054722	missense	possibly damaging	0.93
Z1177:Dcaf7	UTSW	11	106053795	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