Mutagenetix > Incidental Mutation

Incidental Mutation 'R6192:Dcaf7'

502667

Institutional Source

Beutler Lab

Gene Symbol

Dcaf7

Ensembl Gene

ENSMUSG00000049354

Gene Name

DDB1 and CUL4 associated factor 7

Synonyms

1700012F10Rik, 2610037L01Rik, Wdr68

MMRRC Submission

044332-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106036872-106059324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106051758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 177 (V177A)

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

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

AlphaFold

P61963

Predicted Effect

probably damaging
Transcript: ENSMUST00000058438
AA Change: V177A

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

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: V177A

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: ENSMUST00000106891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135857

Meta Mutation Damage Score

0.5204

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,988,169	T2768I	probably benign	Het
Adamts9	T	C	6: 92,797,021	E1137G	probably damaging	Het
Adcy9	T	C	16: 4,287,954	I1099V	probably benign	Het
Angptl4	A	T	17: 33,777,041	N320K	probably benign	Het
Atp6v0a2	G	A	5: 124,629,203	M10I	probably benign	Het
Cbfa2t3	A	G	8: 122,634,396	S395P	probably benign	Het
Cenpe	C	T	3: 135,248,530	T1716I	possibly damaging	Het
Chsy1	T	C	7: 66,170,877	Y287H	probably benign	Het
Col4a4	G	T	1: 82,484,430	P1075T	probably damaging	Het
Cryab	T	A	9: 50,754,513	M68K	probably damaging	Het
Cybrd1	T	A	2: 71,137,514	L143Q	probably null	Het
Dclk2	T	C	3: 86,815,150	Y392C	probably damaging	Het
Ddx20	T	C	3: 105,678,720	T770A	probably benign	Het
Dennd1b	T	A	1: 139,167,718	D501E	probably benign	Het
Dgkh	A	T	14: 78,628,064	Y26*	probably null	Het
Dnajc2	A	G	5: 21,768,648	V196A	probably damaging	Het
Etl4	A	G	2: 20,801,551	K827E	probably damaging	Het
Fam8a1	C	T	13: 46,669,623	P13L	probably damaging	Het
Gfra3	T	C	18: 34,704,529	S139G	possibly damaging	Het
Ggnbp1	G	A	17: 27,029,873	V139I	possibly damaging	Het
Gja1	T	A	10: 56,388,234	Y230N	probably damaging	Het
Gldc	A	G	19: 30,133,772	S535P	probably damaging	Het
Gm45871	A	G	18: 90,592,233	T532A	probably benign	Het
Gm5431	T	A	11: 48,894,393	D107V	probably benign	Het
Herc2	C	T	7: 56,207,762	T4031M	probably damaging	Het
Iffo2	G	A	4: 139,606,458	A282T	probably damaging	Het
Ifi44	T	G	3: 151,745,639		probably null	Het
Igkv4-53	C	T	6: 69,648,931	R62H	possibly damaging	Het
Lrp11	A	C	10: 7,598,690		probably null	Het
Lrp4	A	G	2: 91,508,488	T1755A	probably benign	Het
Mcm3ap	A	T	10: 76,501,100	K1316M	probably damaging	Het
Mctp1	T	G	13: 76,822,963		probably null	Het
Mroh5	A	T	15: 73,790,781	I396N	probably damaging	Het
Mrps5	T	A	2: 127,601,385	H294Q	probably damaging	Het
Muc16	A	T	9: 18,658,689	S845T	unknown	Het
Mycbpap	A	T	11: 94,507,731	V474E	probably damaging	Het
Mzt2	G	C	16: 15,848,687	S122W	probably benign	Het
Neb	T	C	2: 52,256,790	I2821V	probably benign	Het
Ngef	A	T	1: 87,487,900	D347E	probably damaging	Het
Nlrp14	T	C	7: 107,182,439	V281A	probably benign	Het
Obscn	A	T	11: 58,998,038	Y7597N	unknown	Het
Olfr1297	T	C	2: 111,621,175	R300G	possibly damaging	Het
Patj	G	T	4: 98,456,157	G569W	probably damaging	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Phf2	T	A	13: 48,820,107	T361S	unknown	Het
Pik3r6	A	G	11: 68,543,629	E552G	probably damaging	Het
Pitx2	A	G	3: 129,215,872	T147A	probably benign	Het
Pkmyt1	G	A	17: 23,734,193	G241D	probably damaging	Het
Pola2	A	T	19: 5,953,774	V191D	possibly damaging	Het
Ralgapb	T	A	2: 158,449,447		probably null	Het
Rapgef4	T	C	2: 71,981,317	S11P	probably benign	Het
Rnf10	G	A	5: 115,257,077	R151C	probably damaging	Het
Rpl34	G	A	3: 130,729,067	P50L	probably benign	Het
Rptn	C	G	3: 93,398,130	H923Q	possibly damaging	Het
Sbno2	A	T	10: 80,060,016	L977Q	probably damaging	Het
Sec14l3	G	A	11: 4,075,566		probably null	Het
Serping1	A	T	2: 84,770,268	N243K	possibly damaging	Het
Slco2b1	T	A	7: 99,685,572	I231F	probably damaging	Het
Spag8	A	G	4: 43,652,458	F294S	probably damaging	Het
Speer4f1	G	A	5: 17,479,495	A174T	probably damaging	Het
Spred3	T	C	7: 29,162,977	D147G	probably benign	Het
Stard9	A	G	2: 120,696,760	D1166G	probably damaging	Het
Svep1	G	T	4: 58,104,536	T1229K	possibly damaging	Het
Tanc1	T	A	2: 59,838,961		probably null	Het
Tmem232	T	C	17: 65,430,805	Y420C	probably damaging	Het
Tubd1	A	T	11: 86,557,793	M311L	probably benign	Het
Tulp3	G	A	6: 128,355,740		probably null	Het
Usp42	T	C	5: 143,717,187	T560A	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,509	Y112F	probably damaging	Het
Vmn2r4	A	T	3: 64,415,278	C7S	probably benign	Het
Wrn	A	G	8: 33,284,654	M652T	probably benign	Het
Wsb1	G	A	11: 79,248,510	P120L	possibly damaging	Het
Zfp142	T	C	1: 74,570,508	E1376G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		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
Camomile	UTSW	11	106054722	missense	possibly damaging	0.93
Nescafe	UTSW	11	106051797	missense	probably damaging	0.98
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
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
R8489:Dcaf7	UTSW	11	106051917	missense	probably damaging	1.00
R8731:Dcaf7	UTSW	11	106054722	missense	possibly damaging	0.93
R8927:Dcaf7	UTSW	11	106051926	missense	probably damaging	1.00
R8928:Dcaf7	UTSW	11	106051926	missense	probably damaging	1.00
R9625:Dcaf7	UTSW	11	106051968	critical splice donor site	probably null
Z1177:Dcaf7	UTSW	11	106053795	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACAGAGTCCTATTCAGACCCC -3'
(R):5'- CATGGTGGCCAGGTAGTTAG -3'

Sequencing Primer
(F):5'- CGAGAGCATCTCAGGGTTTTAGAG -3'
(R):5'- CCAGGTAGTTAGGGTCCTGC -3'

Posted On

2018-02-27