Mutagenetix > Incidental Mutations

Incidental Mutation 'R6864:Dcaf7'

535823

Institutional Source

Beutler Lab

Gene Symbol

Dcaf7

Ensembl Gene

ENSMUSG00000049354

Gene Name

DDB1 and CUL4 associated factor 7

Synonyms

1700012F10Rik, 2610037L01Rik, Wdr68

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106036872-106059324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106046821 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 90 (T90I)

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000058438
AA Change: T90I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: T90I

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: 99.2%
20x: 97.2%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,478,879	T875I	probably damaging	Het
Anln	A	T	9: 22,382,249	S33T	probably benign	Het
Anxa6	T	C	11: 54,986,185	T541A	probably benign	Het
Atxn2	C	T	5: 121,779,494	R334W	probably damaging	Het
AU040320	T	A	4: 126,847,819	V940D	probably damaging	Het
Bcl2	A	T	1: 106,543,281	Y232N	probably damaging	Het
Bmp7	A	G	2: 172,940,062	V3A	probably benign	Het
Calr	A	T	8: 84,844,928	H145Q	probably damaging	Het
Camta2	T	A	11: 70,671,966	T976S	probably benign	Het
Ccnk	G	A	12: 108,202,214		probably benign	Het
Cntln	T	C	4: 85,096,792	S1107P	probably damaging	Het
Cradd	T	C	10: 95,175,927	D117G	probably damaging	Het
Defb30	T	A	14: 63,036,103		probably null	Het
Dock4	T	A	12: 40,745,746	I854N	probably damaging	Het
Dym	T	A	18: 75,056,738	Y132*	probably null	Het
Eef1a2	T	C	2: 181,149,684	T341A	probably benign	Het
Eml2	T	C	7: 19,196,281	V309A	probably damaging	Het
Fam208a	T	A	14: 27,461,158	F525I	probably damaging	Het
Flnb	C	T	14: 7,905,640	P1130L	possibly damaging	Het
Hivep3	C	A	4: 120,094,888	Q134K	possibly damaging	Het
Kbtbd2	T	A	6: 56,780,026	K242*	probably null	Het
Kel	A	G	6: 41,703,760		probably null	Het
Lcorl	T	A	5: 45,747,204	K177N	probably damaging	Het
Mbd3l2	A	G	9: 18,443,499		probably benign	Het
Mcm3ap	A	G	10: 76,507,479	D1735G	probably damaging	Het
Ms4a1	C	A	19: 11,253,178		probably null	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Mylk	C	A	16: 34,874,150	P193Q	probably benign	Het
Olfr1275	C	T	2: 111,231,197	V199I	probably benign	Het
Olfr1388	G	T	11: 49,443,940	A30S	probably benign	Het
Olfr1390	A	T	11: 49,340,753	T74S	probably damaging	Het
Olfr1424	A	T	19: 12,059,413	F113Y	probably damaging	Het
Olfr339	T	A	2: 36,421,820	C141S	probably damaging	Het
Otogl	C	T	10: 107,827,806	S968N	probably damaging	Het
Oxr1	T	G	15: 41,823,387	V555G	probably damaging	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Peg3	T	C	7: 6,712,762	Y103C	probably damaging	Het
Plekhh2	T	C	17: 84,617,999	V1408A	probably benign	Het
Prkacb	T	C	3: 146,745,378	Y204C	probably damaging	Het
Prkch	A	G	12: 73,759,617	E546G	probably damaging	Het
Prss12	C	A	3: 123,447,384	H76N	probably benign	Het
Rai14	G	T	15: 10,633,168	S45R	possibly damaging	Het
Samd9l	T	A	6: 3,374,750	D837V	probably benign	Het
Slc22a6	G	T	19: 8,618,441	C49F	probably damaging	Het
Slc2a2	T	A	3: 28,721,725	I328N	probably damaging	Het
Slc35f4	T	C	14: 49,318,853	I148V	possibly damaging	Het
Stk32b	A	T	5: 37,448,805		probably null	Het
Tktl2	T	C	8: 66,512,339	I183T	probably damaging	Het
Tmem175	A	C	5: 108,645,979	H325P	probably damaging	Het
Tns3	A	G	11: 8,493,196	V389A	probably damaging	Het
Trappc9	A	T	15: 72,937,162		probably null	Het
Trim28	T	A	7: 13,029,458	F509I	possibly damaging	Het
Vmn1r210	T	A	13: 22,827,543	Q191L	probably benign	Het
Vmn2r24	A	T	6: 123,779,158	D63V	possibly damaging	Het
Zfp536	A	G	7: 37,568,515	L492P	probably damaging	Het
Zfp831	C	A	2: 174,646,740	N1069K	possibly damaging	Het
Zfp943	T	A	17: 21,992,612	H226Q	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
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
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
Z1177:Dcaf7	UTSW	11	106053795	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCAGTGTAGTCGTGTCAAGAC -3'
(R):5'- TGAAACAAGGTCAGTCCACAG -3'

Sequencing Primer
(F):5'- GACCAGAAATCTGATGTGTTTGATCC -3'
(R):5'- AAGGTCAGTCCACAGGCACG -3'

Posted On

2018-10-18