Mutagenetix > Incidental Mutation

Incidental Mutation 'R0539:Dcaf7'

49726

Institutional Source

Beutler Lab

Gene Symbol

Dcaf7

Ensembl Gene

ENSMUSG00000049354

Gene Name

DDB1 and CUL4 associated factor 7

Synonyms

1700012F10Rik, 2610037L01Rik, Wdr68

MMRRC Submission

038731-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0539 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

106036872-106059324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106051826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 200 (S200A)

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

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

AlphaFold

P61963

Predicted Effect

probably damaging
Transcript: ENSMUST00000058438
AA Change: S200A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: S200A

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

0.6371

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (107/107)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,379,350	H129Q	probably damaging	Het
Abca14	G	A	7: 120,207,797	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,669,075	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208	N357I	possibly damaging	Het
Adamts5	C	T	16: 85,868,692	G574S	probably damaging	Het
Adgrg5	T	A	8: 94,938,632	N389K	probably damaging	Het
Ankk1	A	G	9: 49,418,030	V80A	probably benign	Het
Arhgap20	A	G	9: 51,850,155	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,914,799	K32*	probably null	Het
AW209491	T	C	13: 14,637,732	F390S	probably damaging	Het
Axl	A	T	7: 25,778,717		probably benign	Het
Bri3bp	A	G	5: 125,454,539	Y183C	probably damaging	Het
Cad	T	C	5: 31,075,457		probably benign	Het
Capns2	A	G	8: 92,901,732	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,925,162	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,523,706	V166A	possibly damaging	Het
Clmp	A	G	9: 40,782,486	Y333C	probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Copz1	A	G	15: 103,291,365	Y69C	probably damaging	Het
Crybg1	T	C	10: 43,998,898	D738G	probably benign	Het
Ctnna2	T	A	6: 76,973,899	I165F	probably damaging	Het
Deup1	T	A	9: 15,582,597	R416S	possibly damaging	Het
Dmxl1	T	A	18: 49,857,430		probably benign	Het
Dnase2b	A	T	3: 146,589,155		probably benign	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eef2	C	CN	10: 81,178,768		probably null	Het
Ephb2	T	C	4: 136,655,976	Y931C	probably damaging	Het
Fam83h	T	C	15: 76,003,227	S754G	possibly damaging	Het
Fibp	T	A	19: 5,463,188	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,832,898	I571T	probably damaging	Het
Grm7	T	G	6: 111,359,094		probably benign	Het
Gsdma3	A	G	11: 98,635,919	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,032,141		probably benign	Het
Hist1h4c	A	G	13: 23,698,148	F101S	probably damaging	Het
Hydin	A	G	8: 110,523,072	I2216V	probably benign	Het
Ipo8	A	G	6: 148,818,108	M113T	probably benign	Het
Kdm6a	A	G	X: 18,262,425	E1045G	probably damaging	Het
Kyat1	C	T	2: 30,188,217	E117K	probably damaging	Het
Lin7b	A	G	7: 45,369,902		probably benign	Het
Lipn	G	A	19: 34,084,603		probably benign	Het
Lrfn2	C	A	17: 49,071,044	N384K	probably damaging	Het
Lrrc6	A	T	15: 66,447,606	V305D	probably damaging	Het
Map1b	T	C	13: 99,434,018	K732E	unknown	Het
Mpl	A	G	4: 118,443,508	M541T	possibly damaging	Het
Mprip	T	C	11: 59,741,117		probably benign	Het
Mrc1	T	C	2: 14,270,126		probably benign	Het
Ms4a13	T	C	19: 11,171,871		probably benign	Het
Myo18b	G	T	5: 112,723,868	R2116S	probably damaging	Het
Nav2	A	G	7: 49,461,938	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,415,697	A642D	probably benign	Het
Ndufs7	T	A	10: 80,254,831		probably benign	Het
Nfkbiz	G	A	16: 55,817,879	T406M	probably benign	Het
Nr4a1	A	G	15: 101,270,884	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,493,404	F1103V	probably damaging	Het
Olfr1028	G	T	2: 85,952,009	M315I	probably benign	Het
Olfr1044	A	T	2: 86,171,043	M258K	probably damaging	Het
Olfr1441	C	T	19: 12,422,809	L167F	probably damaging	Het
Olfr381	T	C	11: 73,486,063	T254A	probably benign	Het
Olfr479	C	T	7: 108,055,822	T280I	probably damaging	Het
Olfr958	A	T	9: 39,550,297	D191E	probably damaging	Het
Olfr996	T	A	2: 85,579,775	C179S	probably damaging	Het
Phf1	A	G	17: 26,934,458		probably null	Het
Pip	C	T	6: 41,849,885	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,118,162		probably null	Het
Prl2c5	A	G	13: 13,189,321		probably null	Het
Psph	T	A	5: 129,766,577		probably benign	Het
Ptch1	C	T	13: 63,543,480		probably benign	Het
Ptprs	C	T	17: 56,458,255	V10M	probably damaging	Het
Rarg	T	C	15: 102,238,877	R358G	probably damaging	Het
Rbl2	T	C	8: 91,112,505		probably benign	Het
Robo2	A	T	16: 73,985,574		probably benign	Het
Scin	A	T	12: 40,081,766	D256E	possibly damaging	Het
Scn8a	T	C	15: 101,016,568	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,225,301		probably benign	Het
Slc13a2	G	A	11: 78,399,138	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,692,230	I519V	probably benign	Het
Slc30a9	C	T	5: 67,334,610	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,202,762	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558	K466N	probably benign	Het
Snx16	T	C	3: 10,426,218	E209G	probably damaging	Het
Sp3	A	T	2: 72,970,532	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,454,794	V1202F	probably benign	Het
Stam2	A	T	2: 52,703,256		probably benign	Het
Stox2	T	C	8: 47,194,035	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,866,523	T49A	probably damaging	Het
Supt3	A	T	17: 45,003,131	I136F	possibly damaging	Het
Syne2	A	T	12: 76,024,121	R103S	possibly damaging	Het
Synj2	T	A	17: 5,996,888	M1K	probably null	Het
Tas2r110	T	C	6: 132,868,371	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434		probably null	Het
Tmem117	A	G	15: 94,714,912	T110A	possibly damaging	Het
Tmem247	A	G	17: 86,917,478	D5G	probably benign	Het
Tmem39a	T	A	16: 38,590,975	F363I	probably benign	Het
Tmem80	G	A	7: 141,335,895	A73T	possibly damaging	Het
Trpm4	C	T	7: 45,305,472	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,063,986		probably benign	Het
Vmn1r120	A	T	7: 21,053,472	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,580,947		probably benign	Het
Vmn2r95	T	C	17: 18,452,100	F700L	probably damaging	Het
Wdr70	G	A	15: 7,885,637	T550M	possibly damaging	Het
Zbtb22	A	G	17: 33,918,144	D421G	possibly damaging	Het
Zbtb45	G	A	7: 13,006,333	R452C	probably damaging	Het
Zfhx3	T	C	8: 108,800,509	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,806,593		probably null	Het
Zfp532	T	A	18: 65,623,766	S257T	probably benign	Het
Zfp933	G	A	4: 147,826,548	T197I	probably benign	Het
Zgrf1	T	A	3: 127,615,192	N1649K	probably damaging	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
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
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'- TCTCTGAGAAGCCACTCGCTTACC -3'
(R):5'- GAGCAGCCTTCGTAGTCATTACCC -3'

Sequencing Primer
(F):5'- ACTCGCTTACCTGCTGTGTG -3'
(R):5'- ATTACCCATGTGATGCCAGG -3'

Posted On

2013-06-12