Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01988:Dcaf12'

181984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcaf12

Ensembl Gene

ENSMUSG00000028436

Gene Name

DDB1 and CUL4 associated factor 12

Synonyms

1500001L20Rik, Wdr40a, 5830424K06Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01988

Quality Score

Status

Chromosome

Chromosomal Location

41291300-41314889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41298299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 283 (N283S)

Ref Sequence

ENSEMBL: ENSMUSP00000030145 (fasta)

Gene Model

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

AlphaFold

Q8BGZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000030145
AA Change: N283S

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

SMART Domains

Protein: ENSMUSP00000030145
Gene: ENSMUSG00000028436
AA Change: N283S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083939

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 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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,107 (GRCm39)	S493R	probably benign	Het
Abca17	T	C	17: 24,553,229 (GRCm39)	N161D	probably damaging	Het
Ace2	C	A	X: 162,946,988 (GRCm39)	N290K	possibly damaging	Het
Adam26a	G	A	8: 44,022,207 (GRCm39)	P428S	possibly damaging	Het
Adgrv1	T	C	13: 81,705,428 (GRCm39)	R1461G	probably damaging	Het
Arhgef10l	T	C	4: 140,305,672 (GRCm39)		probably benign	Het
Bicc1	A	G	10: 70,792,006 (GRCm39)	V334A	probably damaging	Het
C8a	T	C	4: 104,683,891 (GRCm39)	Y408C	probably damaging	Het
Col24a1	T	C	3: 145,229,922 (GRCm39)		probably null	Het
Copa	T	A	1: 171,945,831 (GRCm39)	N931K	probably benign	Het
Cr1l	A	G	1: 194,799,858 (GRCm39)	M272T	probably damaging	Het
Dnttip2	T	A	3: 122,069,944 (GRCm39)	S386R	probably benign	Het
Fbll1	G	T	11: 35,688,728 (GRCm39)	D178E	probably benign	Het
Fgd6	A	G	10: 93,910,197 (GRCm39)		probably benign	Het
Fyn	T	A	10: 39,409,917 (GRCm39)	L408*	probably null	Het
Gkn2	T	C	6: 87,356,257 (GRCm39)	V176A	probably benign	Het
Gm10764	G	A	10: 87,126,953 (GRCm39)	C120Y	unknown	Het
Gpr19	A	T	6: 134,846,247 (GRCm39)	F442I	probably damaging	Het
Herc1	A	G	9: 66,395,357 (GRCm39)		probably benign	Het
Il7	A	G	3: 7,669,126 (GRCm39)	Y37H	possibly damaging	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Kif1c	A	G	11: 70,595,762 (GRCm39)	D156G	probably damaging	Het
Lrch1	T	C	14: 75,032,813 (GRCm39)		probably benign	Het
Nedd1	G	T	10: 92,550,021 (GRCm39)	T88K	probably benign	Het
Nlrc3	T	G	16: 3,771,803 (GRCm39)	S875R	probably benign	Het
Optc	A	G	1: 133,834,667 (GRCm39)		probably null	Het
Or4a78	T	A	2: 89,497,424 (GRCm39)	I269F	probably benign	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Pde1b	A	G	15: 103,433,283 (GRCm39)		probably null	Het
Phf11a	A	T	14: 59,514,807 (GRCm39)	D291E	probably damaging	Het
Slc30a8	A	T	15: 52,198,601 (GRCm39)	I349L	probably benign	Het
Spty2d1	T	A	7: 46,647,358 (GRCm39)	S524C	probably damaging	Het
Syndig1	T	C	2: 149,845,090 (GRCm39)		probably benign	Het
Syvn1	G	A	19: 6,102,437 (GRCm39)	A502T	probably benign	Het
Tenm2	A	G	11: 35,918,078 (GRCm39)	L1894P	probably damaging	Het
Tmem176a	T	A	6: 48,819,554 (GRCm39)	V11E	possibly damaging	Het
Tpr	G	T	1: 150,302,750 (GRCm39)		probably null	Het
Txnrd2	T	C	16: 18,274,768 (GRCm39)		probably benign	Het
Ubqln3	G	A	7: 103,792,089 (GRCm39)		probably benign	Het
Vmn1r6	C	T	6: 56,979,650 (GRCm39)	T82I	probably damaging	Het
Wdfy4	C	T	14: 32,798,437 (GRCm39)	E1990K	possibly damaging	Het
Zdhhc7	T	C	8: 120,809,329 (GRCm39)	R293G	probably benign	Het
Zeb1	T	A	18: 5,759,037 (GRCm39)	L148*	probably null	Het

Other mutations in Dcaf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9627:Dcaf12	UTSW	4	41,293,976 (GRCm39)	missense	probably benign

Posted On

2014-05-07