Mutagenetix > Incidental Mutation

Incidental Mutation 'R8786:Dcaf12'

670620

Institutional Source

Beutler Lab

Gene Symbol

Dcaf12

Ensembl Gene

ENSMUSG00000028436

Gene Name

DDB1 and CUL4 associated factor 12

Synonyms

1500001L20Rik, Wdr40a, 5830424K06Rik

MMRRC Submission

068632-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R8786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41291300-41314889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41296439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 299 (N299S)

Ref Sequence

ENSEMBL: ENSMUSP00000030145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030145]

AlphaFold

Q8BGZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030145
AA Change: N299S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030145
Gene: ENSMUSG00000028436
AA Change: N299S

Domain	Start	End	E-Value	Type
WD40	77	116	1.53e2	SMART
Blast:WD40	121	169	5e-20	BLAST
WD40	172	211	3.75e-4	SMART
WD40	236	280	4.44e0	SMART
Blast:WD40	284	323	7e-7	BLAST
WD40	328	366	2.37e2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (72/72)

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 COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,592,784 (GRCm39)	M1K	probably null	Het
Atg2a	G	T	19: 6,294,460 (GRCm39)	V59L	probably damaging	Het
Atxn7	C	A	14: 14,103,316 (GRCm38)	T888K	possibly damaging	Het
Btbd9	T	C	17: 30,749,144 (GRCm39)	R57G	probably damaging	Het
Catspere2	T	A	1: 177,843,362 (GRCm39)		probably benign	Het
Catspere2	G	A	1: 177,843,555 (GRCm39)		probably benign	Het
Ccdc9b	C	A	2: 118,587,732 (GRCm39)	S534I	unknown	Het
Crp	T	C	1: 172,526,293 (GRCm39)	V126A	probably benign	Het
Csf1r	A	T	18: 61,247,942 (GRCm39)	T337S	probably damaging	Het
Dcaf17	T	C	2: 70,917,744 (GRCm39)		probably null	Het
Dip2c	A	G	13: 9,665,830 (GRCm39)	D985G	probably damaging	Het
Dtna	A	G	18: 23,716,190 (GRCm39)	T138A	probably benign	Het
Emid1	T	C	11: 5,081,517 (GRCm39)	D212G	probably benign	Het
Epyc	G	A	10: 97,511,525 (GRCm39)	D173N	probably damaging	Het
Fanci	A	G	7: 79,052,298 (GRCm39)	D162G	probably benign	Het
Firrm	A	T	1: 163,792,040 (GRCm39)	L626Q	probably damaging	Het
Fry	T	C	5: 150,317,501 (GRCm39)	V827A	probably benign	Het
Ggps1	T	C	13: 14,228,505 (GRCm39)	E226G	probably benign	Het
Gopc	G	A	10: 52,230,750 (GRCm39)	R183*	probably null	Het
Grik4	C	T	9: 42,453,130 (GRCm39)	G752S	probably damaging	Het
H2-D1	T	A	17: 35,482,844 (GRCm39)	C125S	probably damaging	Het
H2-Q1	T	A	17: 35,539,869 (GRCm39)	V46D	probably damaging	Het
Hsd17b3	T	C	13: 64,219,862 (GRCm39)	N126S	probably damaging	Het
Igsf10	G	A	3: 59,238,063 (GRCm39)	T706I	probably benign	Het
Kmt2e	A	G	5: 23,669,864 (GRCm39)	D117G	probably damaging	Het
Kmt5a	C	T	5: 124,584,074 (GRCm39)	A18V	probably benign	Het
Krtap29-1	C	T	11: 99,869,465 (GRCm39)	G139R	probably damaging	Het
Lama5	T	C	2: 179,838,100 (GRCm39)	Y872C	probably damaging	Het
Lrriq4	T	A	3: 30,704,752 (GRCm39)	M260K	probably benign	Het
Map2	G	A	1: 66,472,755 (GRCm39)		probably benign	Het
Mrpl51	C	T	6: 125,169,340 (GRCm39)	A8V	probably benign	Het
Ndufs3	T	C	2: 90,732,778 (GRCm39)	T103A	probably benign	Het
Numa1	T	G	7: 101,647,616 (GRCm39)	L449R	probably benign	Het
Or10g3b	C	T	14: 52,587,021 (GRCm39)	A161T	possibly damaging	Het
Pan3	C	T	5: 147,424,951 (GRCm39)	P295S	possibly damaging	Het
Pds5b	T	C	5: 150,704,134 (GRCm39)	S846P	probably damaging	Het
Phf2	A	T	13: 48,967,219 (GRCm39)	M712K	unknown	Het
Phlda2	A	T	7: 143,056,211 (GRCm39)	V6E	probably benign	Het
Pkdrej	C	A	15: 85,704,044 (GRCm39)	A631S	probably benign	Het
Plcd3	G	T	11: 102,962,569 (GRCm39)	N627K	probably damaging	Het
Prpf6	T	C	2: 181,262,415 (GRCm39)	I138T	possibly damaging	Het
Psd4	G	A	2: 24,295,444 (GRCm39)	S866N	probably benign	Het
Ptprb	A	C	10: 116,155,306 (GRCm39)	T400P	probably benign	Het
Rxfp1	T	C	3: 79,570,677 (GRCm39)		probably null	Het
Sbf2	A	G	7: 110,063,793 (GRCm39)		probably null	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Setd4	C	T	16: 93,390,162 (GRCm39)	R89Q	probably benign	Het
Sgpp1	A	G	12: 75,763,152 (GRCm39)	I343T	probably benign	Het
Sh2b2	T	C	5: 136,260,658 (GRCm39)	D186G	probably benign	Het
Slc12a4	A	T	8: 106,680,549 (GRCm39)	I191N	probably damaging	Het
Slc4a4	A	T	5: 89,232,549 (GRCm39)	D251V	probably benign	Het
Slc6a5	A	T	7: 49,561,843 (GRCm39)	D125V	possibly damaging	Het
Slf1	T	A	13: 77,274,806 (GRCm39)	I16F	possibly damaging	Het
Sncaip	T	C	18: 53,031,334 (GRCm39)	V521A	probably damaging	Het
Spmip10	T	C	18: 56,727,568 (GRCm39)	F89L	probably damaging	Het
Stx19	T	C	16: 62,642,775 (GRCm39)	L197P	probably damaging	Het
Sucla2	A	G	14: 73,797,905 (GRCm39)	N39D	probably benign	Het
Sult1d1	T	A	5: 87,712,575 (GRCm39)	T90S	probably benign	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tas2r138	A	G	6: 40,589,611 (GRCm39)	S212P	probably damaging	Het
Tdrd3	T	A	14: 87,709,637 (GRCm39)	C106*	probably null	Het
Tlk2	C	T	11: 105,172,059 (GRCm39)	A743V	unknown	Het
Tlr3	T	C	8: 45,851,286 (GRCm39)	D537G	possibly damaging	Het
Tmc1	A	G	19: 20,803,953 (GRCm39)	Y375H	probably damaging	Het
Tsen54	T	A	11: 115,711,498 (GRCm39)	M305K	probably damaging	Het
Umod	C	T	7: 119,076,581 (GRCm39)	V62M	possibly damaging	Het
Vmn1r10	A	G	6: 57,091,010 (GRCm39)	T201A	probably benign	Het
Vmn1r103	T	C	7: 20,243,676 (GRCm39)	T262A	probably benign	Het
Vmn2r100	T	C	17: 19,742,838 (GRCm39)	V404A	probably damaging	Het
Vmn2r56	A	G	7: 12,449,393 (GRCm39)	F282L	probably damaging	Het
Wdr64	A	T	1: 175,636,327 (GRCm39)	K982*	probably null	Het
Xpo6	A	T	7: 125,712,127 (GRCm39)		probably benign	Het

Other mutations in Dcaf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01988:Dcaf12	APN	4	41,298,299 (GRCm39)	missense	probably benign
IGL02252:Dcaf12	APN	4	41,294,085 (GRCm39)	missense	probably benign	0.17
IGL02508:Dcaf12	APN	4	41,296,310 (GRCm39)	critical splice donor site	probably null
R0066:Dcaf12	UTSW	4	41,298,338 (GRCm39)	missense	probably damaging	0.98
R0066:Dcaf12	UTSW	4	41,298,338 (GRCm39)	missense	probably damaging	0.98
R0382:Dcaf12	UTSW	4	41,302,672 (GRCm39)	missense	probably damaging	1.00
R2001:Dcaf12	UTSW	4	41,302,804 (GRCm39)	missense	probably damaging	1.00
R2095:Dcaf12	UTSW	4	41,294,085 (GRCm39)	missense	probably benign	0.17
R5109:Dcaf12	UTSW	4	41,298,329 (GRCm39)	missense	possibly damaging	0.89
R5434:Dcaf12	UTSW	4	41,302,744 (GRCm39)	missense	probably benign	0.00
R5755:Dcaf12	UTSW	4	41,313,356 (GRCm39)	missense	probably damaging	0.99
R6016:Dcaf12	UTSW	4	41,313,267 (GRCm39)	missense	probably damaging	1.00
R6160:Dcaf12	UTSW	4	41,294,043 (GRCm39)	missense	probably damaging	1.00
R7092:Dcaf12	UTSW	4	41,301,366 (GRCm39)	missense	probably damaging	1.00
R9017:Dcaf12	UTSW	4	41,299,411 (GRCm39)	missense	probably benign	0.13
R9627:Dcaf12	UTSW	4	41,293,976 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCCCTGATCTTGTTTGCAAATC -3'
(R):5'- TTTCCCCTAACCCAGAAGTTAC -3'

Sequencing Primer
(F):5'- CTGATCTTGTTTGCAAATCTAAGAAG -3'
(R):5'- CCCTAACCCAGAAGTTACTAGTTTAC -3'

Posted On

2021-04-30