Mutagenetix > Incidental Mutation

Incidental Mutation 'R2095:Dcaf12'

232028

Institutional Source

Beutler Lab

Gene Symbol

Dcaf12

Ensembl Gene

ENSMUSG00000028436

Gene Name

DDB1 and CUL4 associated factor 12

Synonyms

1500001L20Rik, Wdr40a, 5830424K06Rik

MMRRC Submission

040099-MU

Accession Numbers

Essential gene?

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

Stock #

R2095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41291300-41314889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41294085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 351 (H351N)

Ref Sequence

ENSEMBL: ENSMUSP00000030145 (fasta)

Gene Model

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

AlphaFold

Q8BGZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000030145
AA Change: H351N

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030145
Gene: ENSMUSG00000028436
AA Change: H351N

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

Meta Mutation Damage Score

0.1269

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (58/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	C	A	4: 122,596,151 (GRCm39)	Y127*	probably null	Het
Adam33	C	T	2: 130,895,629 (GRCm39)	G562D	probably damaging	Het
Adh1	T	C	3: 137,988,557 (GRCm39)	F177L	probably damaging	Het
Arhgef17	T	C	7: 100,530,470 (GRCm39)	T1439A	probably damaging	Het
Arl5c	C	T	11: 97,884,277 (GRCm39)	E105K	probably damaging	Het
Armc3	T	A	2: 19,293,740 (GRCm39)	D510E	possibly damaging	Het
Bbx	T	C	16: 50,045,052 (GRCm39)	E395G	possibly damaging	Het
Cacna2d2	G	A	9: 107,404,364 (GRCm39)	E1087K	probably benign	Het
Casq1	T	C	1: 172,043,529 (GRCm39)	N113S	probably benign	Het
Cbfa2t3	A	G	8: 123,361,727 (GRCm39)	S432P	probably benign	Het
Ccn2	T	C	10: 24,472,377 (GRCm39)	V140A	probably benign	Het
Cd163	A	G	6: 124,294,781 (GRCm39)	D615G	probably damaging	Het
Chrnb2	A	T	3: 89,668,744 (GRCm39)	D190E	probably benign	Het
Clec9a	T	C	6: 129,393,321 (GRCm39)	L115P	possibly damaging	Het
Cluh	C	T	11: 74,552,550 (GRCm39)	R532*	probably null	Het
Cntnap5a	T	A	1: 116,369,990 (GRCm39)	L869Q	probably damaging	Het
Cyp3a57	A	T	5: 145,305,944 (GRCm39)	K143*	probably null	Het
Dtna	T	A	18: 23,702,805 (GRCm39)	L112Q	probably damaging	Het
Fnta	G	A	8: 26,489,907 (GRCm39)	Q303*	probably null	Het
Frs2	T	C	10: 116,910,507 (GRCm39)	E285G	probably benign	Het
Gabra4	T	C	5: 71,781,455 (GRCm39)	I293V	probably damaging	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Gnl2	C	T	4: 124,928,111 (GRCm39)	R49C	probably damaging	Het
Helz	T	A	11: 107,536,972 (GRCm39)	Y275N	probably damaging	Het
Hydin	A	G	8: 111,189,289 (GRCm39)	E1231G	probably damaging	Het
Kctd11	T	A	11: 69,770,402 (GRCm39)	D212V	probably damaging	Het
Klf3	T	A	5: 64,979,245 (GRCm39)	M29K	probably benign	Het
Klhl21	T	C	4: 152,093,850 (GRCm39)	S151P	probably benign	Het
Lsm14b	A	T	2: 179,673,580 (GRCm39)		probably benign	Het
Mlxipl	T	C	5: 135,150,974 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,847 (GRCm39)	R389C	probably damaging	Het
Msh6	A	G	17: 88,295,661 (GRCm39)	M1071V	possibly damaging	Het
Myh8	G	T	11: 67,177,050 (GRCm39)	A401S	probably benign	Het
Ndufv3	T	C	17: 31,746,460 (GRCm39)	S117P	possibly damaging	Het
Obscn	A	T	11: 58,984,410 (GRCm39)		probably null	Het
Or1e22	T	A	11: 73,377,420 (GRCm39)	T77S	probably damaging	Het
Or2l13	T	C	16: 19,305,681 (GRCm39)	I31T	probably benign	Het
Or4c11c	T	C	2: 88,661,634 (GRCm39)	Y58H	probably damaging	Het
Or8g50	T	A	9: 39,648,557 (GRCm39)	Y149N	probably damaging	Het
Pcdhb17	T	A	18: 37,619,375 (GRCm39)	D388E	probably benign	Het
Pgm3	T	C	9: 86,438,394 (GRCm39)	T423A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
S1pr5	T	A	9: 21,156,154 (GRCm39)	T91S	probably benign	Het
Sgcz	T	C	8: 38,007,546 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Slco2a1	A	G	9: 102,954,167 (GRCm39)	T383A	probably benign	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Spta1	T	A	1: 174,071,764 (GRCm39)	M2248K	possibly damaging	Het
Stub1	A	G	17: 26,049,864 (GRCm39)	Y304H	probably damaging	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tbc1d1	C	T	5: 64,473,844 (GRCm39)	S660L	probably benign	Het
Tcea2	C	A	2: 181,328,725 (GRCm39)	F259L	probably damaging	Het
Tcp11l1	T	A	2: 104,512,185 (GRCm39)	K482N	probably damaging	Het
Trpv6	C	T	6: 41,598,690 (GRCm39)	R645Q	probably damaging	Het
Uaca	T	A	9: 60,748,125 (GRCm39)	S30T	probably benign	Het
Ubap2	C	G	4: 41,206,901 (GRCm39)	V492L	possibly damaging	Het
Ube3c	T	C	5: 29,873,038 (GRCm39)	F1026S	probably damaging	Het
Vmn2r8	T	G	5: 108,956,487 (GRCm39)	D45A	possibly damaging	Het
Zfp738	G	T	13: 67,819,422 (GRCm39)	L180I	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ATCCTCTCAGGTCTGGGCTTAC -3'
(R):5'- TGTGAAAGGTGATGCCAGTG -3'

Sequencing Primer
(F):5'- AGGTCTGGGCTTACTCACCAG -3'
(R):5'- TGCTATTGGAGGCATAGCACC -3'

Posted On

2014-09-18