Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Dcaf7'

296770

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

106036872-106059324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106051872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 215 (I215N)

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

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

AlphaFold

P61963

Predicted Effect

probably damaging
Transcript: ENSMUST00000058438
AA Change: I215N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: I215N

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

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 24,898,596	S364N	probably damaging	Het
AI314180	T	C	4: 58,877,102	E111G	probably damaging	Het
Ano8	C	T	8: 71,485,077	G47D	probably damaging	Het
App	T	C	16: 84,955,417	T743A	probably damaging	Het
Armc3	A	G	2: 19,300,506	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,185,661	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,600,629	V297I	probably damaging	Het
Bpi	A	G	2: 158,267,731	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,271,870		probably benign	Het
Cbarp	A	G	10: 80,135,545	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,274,901	N78S	unknown	Het
Cdcp1	G	T	9: 123,173,637	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,289,143	I111F	probably benign	Het
Ctsr	A	G	13: 61,163,178	V18A	probably benign	Het
Dapk1	A	G	13: 60,696,347	D60G	probably damaging	Het
Daw1	A	C	1: 83,209,228	N253T	probably benign	Het
Ddc	A	C	11: 11,829,125	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,852,394		probably null	Het
Dnah10	C	A	5: 124,787,331	T2200K	probably damaging	Het
Dock6	T	C	9: 21,802,585	Y1883C	probably damaging	Het
Eif2ak4	T	A	2: 118,436,254	I752N	probably damaging	Het
Fcho2	A	G	13: 98,730,212	I740T	probably benign	Het
Flnc	A	G	6: 29,450,841	D1496G	probably damaging	Het
Fn1	A	G	1: 71,637,323	V583A	possibly damaging	Het
Grasp	G	A	15: 101,229,051	V137I	probably damaging	Het
Greb1l	A	C	18: 10,537,064	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,758,131	L195P	probably damaging	Het
Hyi	A	G	4: 118,362,483	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,611,198	Y112*	probably null	Het
Ints3	A	G	3: 90,403,108	F495S	probably damaging	Het
Itih2	T	A	2: 10,097,917	H802L	probably benign	Het
Jag2	C	T	12: 112,910,566	V990M	probably damaging	Het
Kat6b	T	C	14: 21,609,868		probably benign	Het
Krtap4-8	C	T	11: 99,780,342		probably benign	Het
Lhx4	A	G	1: 155,702,257	S380P	probably damaging	Het
Morn3	C	A	5: 123,037,300	E33*	probably null	Het
Mug2	C	T	6: 122,070,843	A771V	probably damaging	Het
N4bp3	A	T	11: 51,644,334	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,114,460	N643S	probably damaging	Het
Olfr15	A	C	16: 3,839,336	D121A	probably damaging	Het
Olfr767	T	A	10: 129,079,793	M57L	possibly damaging	Het
Olfr93	T	A	17: 37,151,272	R79S	possibly damaging	Het
Phc3	A	G	3: 30,948,793	F192S	probably damaging	Het
Pigq	C	T	17: 25,937,247	R69H	probably benign	Het
Plk3	A	G	4: 117,131,989	C222R	probably damaging	Het
Pomt2	T	C	12: 87,119,646	T490A	probably benign	Het
Prss29	T	C	17: 25,320,901	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,465,815		probably benign	Het
Sccpdh	G	A	1: 179,681,691	G75D	probably damaging	Het
Serpine2	T	C	1: 79,794,997		probably benign	Het
Sfr1	T	G	19: 47,732,990		probably null	Het
Slc22a23	C	A	13: 34,203,955	C386F	probably benign	Het
Slc22a27	T	C	19: 7,864,811	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,400,335	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,691,393	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,577,875	N668D	probably damaging	Het
Supt16	A	T	14: 52,183,964	D41E	possibly damaging	Het
Ugt2b37	A	G	5: 87,240,882	S491P	probably damaging	Het
Urb1	G	T	16: 90,772,695	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,742,174	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,179,540	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798	Y529N	probably damaging	Het
Zfp541	T	A	7: 16,082,993		probably null	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
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
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
Z1177:Dcaf7	UTSW	11	106053795	missense	probably benign	0.00

Posted On

2015-04-16