Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02892:Dcaf7'

363222

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?

Probably essential (E-score: 0.929) question?

Stock #

IGL02892

Quality Score

Status

Chromosome

Chromosomal Location

106036872-106059324 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106046692 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 47 (V47A)

Ref Sequence

ENSEMBL: ENSMUSP00000058168 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058438
AA Change: V47A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: V47A

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,604,997	L493*	probably null	Het
Adam32	T	A	8: 24,878,711		probably benign	Het
Alpk1	T	C	3: 127,680,122	D744G	possibly damaging	Het
Arhgef12	A	G	9: 43,000,972	V530A	possibly damaging	Het
Baz2b	A	T	2: 59,900,736	N2095K	probably damaging	Het
Btnl2	A	T	17: 34,362,668	Q240L	possibly damaging	Het
Cd96	T	C	16: 46,049,797		probably null	Het
Cep350	G	A	1: 155,868,806	T2089I	possibly damaging	Het
Chd9	T	C	8: 90,976,915		probably benign	Het
Cib4	C	T	5: 30,544,707		probably benign	Het
Cilp2	T	C	8: 69,884,320	T280A	probably benign	Het
Coq5	T	A	5: 115,294,817		probably benign	Het
Cyth3	A	G	5: 143,707,437	I339V	possibly damaging	Het
Dcdc2c	A	G	12: 28,535,545	I151T	probably benign	Het
Defb7	T	A	8: 19,497,662	F61Y	probably benign	Het
Diaph3	T	A	14: 86,866,630	K773*	probably null	Het
Dmxl1	A	G	18: 49,859,120	N311S	probably damaging	Het
Dnah7b	G	A	1: 46,119,298	R347H	possibly damaging	Het
Egflam	C	T	15: 7,289,796	V234I	probably benign	Het
Emilin3	C	T	2: 160,909,149	V180M	possibly damaging	Het
Fam76b	A	T	9: 13,828,821	E50V	probably null	Het
Fat3	A	T	9: 16,377,562	Y222N	probably damaging	Het
Grm7	A	G	6: 111,254,020	N468S	probably damaging	Het
Gucy1a2	G	T	9: 3,634,471	G172C	probably damaging	Het
Hmcn1	A	C	1: 150,675,974		probably null	Het
Hydin	G	A	8: 110,598,959	V4667M	possibly damaging	Het
Idh2	T	C	7: 80,095,670	S408G	probably benign	Het
Kcng4	T	C	8: 119,633,082	Q185R	probably benign	Het
Lamp3	A	G	16: 19,676,052	V301A	probably damaging	Het
Lrrc23	T	C	6: 124,774,436	N220S	probably benign	Het
Lrrc41	T	A	4: 116,088,835	M249K	possibly damaging	Het
Ltbp4	T	A	7: 27,310,649	D1162V	probably damaging	Het
Mlh1	T	C	9: 111,252,969	I229V	probably benign	Het
Olfr108	T	C	17: 37,446,034	L160P	probably damaging	Het
Plekhg2	T	A	7: 28,362,917	D525V	probably damaging	Het
Plin4	T	C	17: 56,105,108	K641R	probably damaging	Het
Plxnb2	A	G	15: 89,161,222		probably null	Het
Polr1a	T	C	6: 71,931,696	S502P	possibly damaging	Het
Prss16	A	G	13: 22,003,050	V450A	probably benign	Het
Prss42	G	A	9: 110,799,390	V201M	probably damaging	Het
Pus7	A	T	5: 23,754,556	N322K	probably damaging	Het
Riok1	G	T	13: 38,040,065		probably benign	Het
Rmdn3	T	A	2: 119,154,080	T64S	probably benign	Het
Rmnd5a	T	A	6: 71,414,814	M131L	probably benign	Het
Rtbdn	C	T	8: 84,955,089	R170C	probably damaging	Het
Sesn3	T	C	9: 14,314,734		probably null	Het
Slc2a6	A	G	2: 27,024,293	Y271H	probably benign	Het
Slc5a5	T	G	8: 70,892,517	T49P	probably damaging	Het
Slc7a10	T	C	7: 35,195,168	V84A	possibly damaging	Het
Slc9a4	A	G	1: 40,584,044	T148A	possibly damaging	Het
Smg1	T	A	7: 118,167,955		probably benign	Het
Snx19	T	A	9: 30,428,364	V266E	probably damaging	Het
Synm	T	A	7: 67,735,056	I511F	probably damaging	Het
Tango6	T	A	8: 106,742,010		probably benign	Het
Tie1	T	A	4: 118,486,282	D128V	probably damaging	Het
Timeless	T	C	10: 128,244,251	L423P	probably damaging	Het
Tln1	A	G	4: 43,555,679	L145P	probably damaging	Het
Tmem8	A	G	17: 26,119,120	Y466C	probably damaging	Het
Trp53i13	A	T	11: 77,508,295	D376E	probably damaging	Het
Ubr4	A	T	4: 139,417,331	I1484F	probably damaging	Het
Unc13a	C	T	8: 71,649,910	V943M	probably damaging	Het
Usp50	T	C	2: 126,769,902	K301R	probably damaging	Het
Vmn1r62	G	T	7: 5,676,203	M294I	probably benign	Het
Vps39	A	G	2: 120,323,171		probably benign	Het
Vwa8	T	A	14: 79,103,700		probably benign	Het
Wdr27	A	T	17: 14,876,176	W748R	possibly 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
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

Posted On

2015-12-18