Mutagenetix > Incidental Mutation

Incidental Mutation 'R9627:Dcaf12'

725201

Institutional Source

Beutler Lab

Gene Symbol

Dcaf12

Ensembl Gene

ENSMUSG00000028436

Gene Name

DDB1 and CUL4 associated factor 12

Synonyms

1500001L20Rik, Wdr40a, 5830424K06Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9627 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41291300-41314889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41293976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 387 (L387P)

Ref Sequence

ENSEMBL: ENSMUSP00000030145 (fasta)

Gene Model

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

AlphaFold

Q8BGZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000030145
AA Change: L387P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030145
Gene: ENSMUSG00000028436
AA Change: L387P

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: 99.9%
10x: 99.6%
20x: 98.9%

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 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,487,834 (GRCm39)		probably benign	Het
Abca14	T	C	7: 119,854,530 (GRCm39)	V898A	probably benign	Het
Adamtsl1	A	T	4: 86,306,762 (GRCm39)	D1400V	possibly damaging	Het
Akap6	T	A	12: 53,151,413 (GRCm39)	M1159K		Het
Atg13	C	A	2: 91,509,098 (GRCm39)	G446*	probably null	Het
Atp6v1g2	G	T	17: 35,454,956 (GRCm39)		probably null	Het
Bmp2k	C	T	5: 97,201,028 (GRCm39)	A316V	possibly damaging	Het
Ccdc34	AAGA	AA	2: 109,871,010 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,460,557 (GRCm39)	D1173G	probably benign	Het
Cln6	T	A	9: 62,754,303 (GRCm39)	I115N	probably damaging	Het
Cma1	T	C	14: 56,181,289 (GRCm39)	T39A	probably benign	Het
Cpsf1	A	T	15: 76,484,088 (GRCm39)	M744K	probably damaging	Het
Csf1r	A	G	18: 61,260,972 (GRCm39)	Y721C	probably damaging	Het
Ephb1	T	C	9: 101,918,468 (GRCm39)	E347G	possibly damaging	Het
Fig4	T	A	10: 41,108,178 (GRCm39)	H674L	probably benign	Het
Foxa3	T	A	7: 18,748,458 (GRCm39)	K223*	probably null	Het
Gimap7	T	C	6: 48,700,600 (GRCm39)	V62A	probably damaging	Het
Glrx3	T	A	7: 137,046,755 (GRCm39)	V49E	probably benign	Het
Greb1	T	C	12: 16,756,167 (GRCm39)	Y823C	probably damaging	Het
H3c7	G	T	13: 23,728,793 (GRCm39)	V47L	possibly damaging	Het
Hapln4	C	A	8: 70,539,520 (GRCm39)	R184S	possibly damaging	Het
Hmcn1	C	T	1: 150,506,054 (GRCm39)	C3824Y	probably damaging	Het
Hrnr	T	C	3: 93,233,235 (GRCm39)	S1158P	unknown	Het
Itln1	A	G	1: 171,360,985 (GRCm39)	S36P	probably benign	Het
Kcnh5	A	C	12: 75,160,990 (GRCm39)	I306S	probably damaging	Het
Kctd19	T	A	8: 106,113,997 (GRCm39)	M559L	probably benign	Het
Kif2a	A	G	13: 107,158,558 (GRCm39)	I9T	possibly damaging	Het
Klra5	G	A	6: 129,883,701 (GRCm39)	T142I	probably benign	Het
Ldlrad3	A	G	2: 101,785,423 (GRCm39)	V184A	probably damaging	Het
Lrrc27	T	C	7: 138,808,582 (GRCm39)		probably benign	Het
Mark1	A	G	1: 184,646,817 (GRCm39)	V340A	probably benign	Het
Mrps31	T	C	8: 22,901,558 (GRCm39)	V26A	probably benign	Het
Mtrr	G	A	13: 68,725,756 (GRCm39)	L118F	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nbas	G	T	12: 13,350,203 (GRCm39)	V285F	possibly damaging	Het
Nfrkb	T	C	9: 31,321,189 (GRCm39)	L675P	possibly damaging	Het
Or10v9	T	A	19: 11,832,910 (GRCm39)	I136F	possibly damaging	Het
Or1q1	T	A	2: 36,887,665 (GRCm39)	V281E		Het
Or5k15	T	A	16: 58,709,771 (GRCm39)	I271L	probably benign	Het
Phkg1	C	T	5: 129,893,376 (GRCm39)	W358*	probably null	Het
Plekhj1	A	C	10: 80,633,494 (GRCm39)	I51S	possibly damaging	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Prkg2	T	C	5: 99,079,869 (GRCm39)	*763W	probably null	Het
Rhobtb2	A	G	14: 70,034,349 (GRCm39)	F292S	probably damaging	Het
Rlf	A	T	4: 121,007,002 (GRCm39)	C769*	probably null	Het
Rmi1	C	A	13: 58,557,366 (GRCm39)	D538E	possibly damaging	Het
Scn4a	C	T	11: 106,212,839 (GRCm39)	V1389I	probably benign	Het
Serpinc1	A	T	1: 160,821,101 (GRCm39)	K183*	probably null	Het
Setd4	A	T	16: 93,380,562 (GRCm39)	M399K	possibly damaging	Het
Setx	T	C	2: 29,034,661 (GRCm39)	M382T	probably damaging	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Slfn2	A	T	11: 82,960,367 (GRCm39)	K115N		Het
Snrk	A	T	9: 121,966,427 (GRCm39)	K117*	probably null	Het
Spata31	A	G	13: 65,065,409 (GRCm39)	Y38C	possibly damaging	Het
Stab2	T	C	10: 86,793,704 (GRCm39)	T464A	probably damaging	Het
Tagap1	C	T	17: 7,224,327 (GRCm39)	G123D	probably benign	Het
Tas2r136	T	C	6: 132,754,948 (GRCm39)	K60E	possibly damaging	Het
Tasor	T	C	14: 27,194,123 (GRCm39)	S1108P	probably benign	Het
Tmem200b	A	C	4: 131,649,437 (GRCm39)	Y119S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Wwp2	T	G	8: 108,278,959 (GRCm39)	L578W	probably damaging	Het
Zfp53	T	A	17: 21,728,745 (GRCm39)	C259*	probably null	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
R8786:Dcaf12	UTSW	4	41,296,439 (GRCm39)	missense	probably damaging	1.00
R9017:Dcaf12	UTSW	4	41,299,411 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GCCGAGATTACAAACATCTGCC -3'
(R):5'- GGTGTACACCCTCTAATTGCTC -3'

Sequencing Primer
(F):5'- TGGAGCCAGTGTGCAGAC -3'
(R):5'- CTGTGTTTTTCTTTCTCAGGGATTC -3'

Posted On

2022-09-12