Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Dcaf4'

556021

Institutional Source

Beutler Lab

Gene Symbol

Dcaf4

Ensembl Gene

ENSMUSG00000021222

Gene Name

DDB1 and CUL4 associated factor 4

Synonyms

1110018E21Rik, Wdr21

Accession Numbers

Genbank: NM_030246; MGI: 1921078

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

PIT4504001 (G1)

Quality Score

206.009

Status

Not validated

Chromosome

Chromosomal Location

83520466-83541920 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 83534011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021645] [ENSMUST00000222502] [ENSMUST00000223291]

AlphaFold

A0A1Y7VNZ0

Predicted Effect

probably null
Transcript: ENSMUST00000021645

SMART Domains

Protein: ENSMUSP00000021645
Gene: ENSMUSG00000021222

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC
Blast:WD40	274	313	2e-14	BLAST
WD40	361	399	8.36e-2	SMART
WD40	402	443	7.4e0	SMART
Blast:WD40	446	494	1e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000222502

Predicted Effect

probably null
Transcript: ENSMUST00000223291

Coding Region Coverage

1x: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

Allele List at MGI

All alleles(39) : Gene trapped(39)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,717,192	C970*	probably null	Het
Adgrv1	G	A	13: 81,559,352	P1312S	probably damaging	Het
Als2cr12	T	A	1: 58,659,099	I348F	probably benign	Het
Arid5a	T	C	1: 36,317,625	I116T	probably damaging	Het
Bank1	C	A	3: 136,100,419	D485Y	probably damaging	Het
Cbln3	C	T	14: 55,883,499	V122M	probably damaging	Het
Cox10	C	T	11: 63,964,216	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,801,009	D44V	probably benign	Het
Cuzd1	A	T	7: 131,309,800	N483K	possibly damaging	Het
Ddx60	A	G	8: 61,958,113	T470A	probably benign	Het
Dennd1b	T	C	1: 139,040,004	V44A	probably benign	Het
Dusp16	C	A	6: 134,739,883	V154F	possibly damaging	Het
Ect2	G	A	3: 27,126,948	R586*	probably null	Het
Ermard	T	A	17: 15,058,822	C460*	probably null	Het
Fat2	C	T	11: 55,256,110	G4020D	possibly damaging	Het
Galnt16	G	T	12: 80,592,417	E402*	probably null	Het
Gm5414	T	G	15: 101,625,823	D282A	probably damaging	Het
Gm6741	C	T	17: 91,236,916	Q36*	probably null	Het
Gm7356	A	T	17: 14,001,458	L103Q	probably damaging	Het
Hcn1	A	G	13: 117,975,875	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863	N458D	probably benign	Het
Hesx1	C	A	14: 27,001,881	D140E	probably benign	Het
Hfe2	A	T	3: 96,528,497	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469	T249A	possibly damaging	Het
Il33	A	T	19: 29,952,739	H78L	probably benign	Het
Inpp4b	A	T	8: 82,041,935	D691V	probably damaging	Het
Itpr2	T	A	6: 146,229,871	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,579,027	V122A	probably benign	Het
Lrp2	T	C	2: 69,475,403	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,608,537	Y726F	probably benign	Het
Magi3	G	T	3: 104,015,526	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,774,087	F546L	probably damaging	Het
Mrpl14	A	G	17: 45,698,221	K82R	probably benign	Het
Noxred1	A	G	12: 87,224,879	V172A	possibly damaging	Het
Obscn	A	T	11: 59,133,122	I574N	probably damaging	Het
Olfr133	A	G	17: 38,149,169	T194A	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,308	T134S	probably benign	Het
Osbpl11	T	A	16: 33,234,494	V649D	probably benign	Het
Pdlim2	G	T	14: 70,166,130	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,743,390	R223L	probably damaging	Het
Pole2	A	T	12: 69,209,985	Y255*	probably null	Het
Rims1	T	A	1: 22,397,460	I317L		Het
Scnn1g	C	A	7: 121,742,331	H239N	probably benign	Het
Spag17	A	G	3: 100,103,110		probably null	Het
Tenm3	A	T	8: 48,293,657	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,886,051	F856L	probably damaging	Het
Ubtf	A	G	11: 102,306,682	S715P	unknown	Het
Usp13	A	C	3: 32,905,430	S557R	probably damaging	Het
Usp19	T	A	9: 108,492,970	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,715,976	Y308N	probably benign	Het
Zfp455	A	G	13: 67,198,621	D32G	probably damaging	Het
Zfp512	T	A	5: 31,476,881		probably null	Het
Zfr	A	G	15: 12,166,158	E838G	possibly damaging	Het

Other mutations in Dcaf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Dcaf4	APN	12	83539333	missense	probably damaging	1.00
IGL01401:Dcaf4	APN	12	83541374	missense	probably damaging	1.00
IGL02393:Dcaf4	APN	12	83530031	missense	probably damaging	1.00
IGL02970:Dcaf4	APN	12	83529215	missense	probably damaging	0.99
BB003:Dcaf4	UTSW	12	83533929	nonsense	probably null
BB013:Dcaf4	UTSW	12	83533929	nonsense	probably null
F5770:Dcaf4	UTSW	12	83537701	splice site	probably null
R0032:Dcaf4	UTSW	12	83535988	splice site	probably benign
R0032:Dcaf4	UTSW	12	83535988	splice site	probably benign
R0164:Dcaf4	UTSW	12	83535988	splice site	probably benign
R0165:Dcaf4	UTSW	12	83535988	splice site	probably benign
R0167:Dcaf4	UTSW	12	83535988	splice site	probably benign
R0211:Dcaf4	UTSW	12	83535961	missense	probably damaging	1.00
R0211:Dcaf4	UTSW	12	83535961	missense	probably damaging	1.00
R0594:Dcaf4	UTSW	12	83538043	critical splice donor site	probably null
R1191:Dcaf4	UTSW	12	83535967	missense	probably damaging	1.00
R4499:Dcaf4	UTSW	12	83539360	missense	probably damaging	1.00
R4896:Dcaf4	UTSW	12	83539459	missense	possibly damaging	0.86
R4932:Dcaf4	UTSW	12	83532304	missense	possibly damaging	0.61
R5882:Dcaf4	UTSW	12	83539429	missense	probably damaging	0.96
R7084:Dcaf4	UTSW	12	83537797	frame shift	probably null
R7564:Dcaf4	UTSW	12	83541523	missense	probably damaging	0.97
R7777:Dcaf4	UTSW	12	83537959	missense	probably damaging	0.97
R7926:Dcaf4	UTSW	12	83533929	nonsense	probably null
R8290:Dcaf4	UTSW	12	83541559	missense	probably benign	0.32
R9418:Dcaf4	UTSW	12	83539832	missense	probably benign	0.39
R9486:Dcaf4	UTSW	12	83535952	missense	probably damaging	0.99
R9735:Dcaf4	UTSW	12	83526165	missense	probably benign
V7583:Dcaf4	UTSW	12	83537701	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCCTGATGGAGAGGAGCTTAG -3'
(R):5'- GTTAAGACTCTCTGGGCCTTGC -3'

Sequencing Primer
(F):5'- GCTTAGGCAGCCCACATG -3'
(R):5'- GCTCTTCCTGTGGGCTCTCAG -3'

Posted On

2019-06-07