Mutagenetix > Incidental Mutations

Incidental Mutation 'R4595:Dcaf13'

344348

Institutional Source

Beutler Lab

Gene Symbol

Dcaf13

Ensembl Gene

ENSMUSG00000022300

Gene Name

DDB1 and CUL4 associated factor 13

Synonyms

LOC223499, Wdsof1

MMRRC Submission

041811-MU

Accession Numbers

Genbank: NM_198606; MGI: 2684929

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R4595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39112865-39146856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39118893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 85 (G85R)

Ref Sequence

ENSEMBL: ENSMUSP00000022909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022909]

AlphaFold

Q6PAC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022909
AA Change: G85R

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

SMART Domains

Protein: ENSMUSP00000022909
Gene: ENSMUSG00000022300
AA Change: G85R

Domain	Start	End	E-Value	Type
WD40	55	95	5.77e-5	SMART
WD40	98	137	4.38e-5	SMART
WD40	185	225	5.97e-1	SMART
Blast:WD40	228	267	1e-18	BLAST
WD40	271	310	2.69e-5	SMART
WD40	312	353	2.96e-2	SMART
Pfam:Sof1	354	440	7.2e-38	PFAM

Meta Mutation Damage Score

0.9719

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

Allele List at MGI

All alleles(9) : Targeted, other(2) Gene trapped(7)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4921536K21Rik	A	G	11: 3,890,052	I115T	probably benign	Het
Acads	A	T	5: 115,113,064	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139	C118S	probably benign	Het
Alpk2	T	C	18: 65,289,748	T1493A	probably damaging	Het
AU018091	A	G	7: 3,158,428	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,198,922	I86N	probably damaging	Het
Ccdc180	A	G	4: 45,945,023	E1477G	probably damaging	Het
Ccne2	A	G	4: 11,202,986	N368S	probably benign	Het
Cenpp	A	T	13: 49,641,234	F152L	probably benign	Het
Cfap46	T	A	7: 139,652,404	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,721,229	V212A	probably damaging	Het
Col9a2	A	T	4: 121,045,155	K196N	probably benign	Het
Copg2	T	C	6: 30,749,450	D814G	probably damaging	Het
Dnah9	A	G	11: 66,168,152	S106P	probably benign	Het
Dpp8	A	G	9: 65,075,803	D739G	probably damaging	Het
Drd2	T	A	9: 49,404,789	M283K	probably benign	Het
Espl1	A	G	15: 102,298,724	T208A	probably benign	Het
Glul	G	A	1: 153,903,050	G35D	possibly damaging	Het
Gm14412	T	C	2: 177,315,212	K297E	unknown	Het
Gm21976	A	T	13: 98,305,810	R120W	probably damaging	Het
Hipk3	T	A	2: 104,441,277	T437S	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Lipn	T	G	19: 34,081,350	Y321D	probably damaging	Het
Lrwd1	A	G	5: 136,123,956	V484A	probably benign	Het
Madd	T	C	2: 91,167,664	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,147,764	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,865,807	T299A	possibly damaging	Het
Micu3	T	C	8: 40,359,397		probably benign	Het
Mmp7	T	C	9: 7,697,666	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Olfr1234	C	T	2: 89,363,325	V35M	probably damaging	Het
Olfr1307	T	C	2: 111,944,652	D268G	possibly damaging	Het
Olfr622	A	G	7: 103,640,101	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,514,515	D232E	probably damaging	Het
Pebp1	G	T	5: 117,283,410	D156E	probably benign	Het
Pik3cb	A	G	9: 99,055,406	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,542,020	L170P	probably damaging	Het
Ptch1	T	C	13: 63,543,608	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,154,575	M394K	probably damaging	Het
Rhoq	T	C	17: 86,964,326	Y57H	probably benign	Het
Setbp1	T	C	18: 78,857,516	I979V	probably benign	Het
Slc6a4	A	G	11: 77,019,863	I447V	probably benign	Het
Sos2	T	C	12: 69,616,889	K607R	probably damaging	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Syne2	A	T	12: 75,967,071	Q3012L	possibly damaging	Het
Taf1b	T	A	12: 24,500,442	F9I	possibly damaging	Het
Tex35	T	A	1: 157,099,339	Y195F	probably benign	Het
Tnc	T	C	4: 63,995,745	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,729,943	Y153*	probably null	Het
Trim5	C	A	7: 104,265,432	V477F	probably damaging	Het
Trp73	A	G	4: 154,064,417	I245T	probably damaging	Het
Zbtb16	C	T	9: 48,832,080	E311K	possibly damaging	Het
Zmynd19	A	G	2: 24,958,988	D165G	probably damaging	Het

Other mutations in Dcaf13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Dcaf13	APN	15	39143632	nonsense	probably null
IGL01081:Dcaf13	APN	15	39118806	missense	probably damaging	1.00
IGL01766:Dcaf13	APN	15	39118750	missense	probably benign	0.00
IGL02174:Dcaf13	APN	15	39138149	missense	probably damaging	1.00
IGL02262:Dcaf13	APN	15	39118707	splice site	probably benign
IGL02740:Dcaf13	APN	15	39145100	nonsense	probably null
IGL03092:Dcaf13	APN	15	39127976	splice site	probably benign
IGL03374:Dcaf13	APN	15	39145148	nonsense	probably null
R0590:Dcaf13	UTSW	15	39145085	splice site	probably benign
R0594:Dcaf13	UTSW	15	39123268	missense	probably benign	0.00
R0711:Dcaf13	UTSW	15	39138089	missense	probably damaging	1.00
R1036:Dcaf13	UTSW	15	39143718	missense	probably damaging	1.00
R1770:Dcaf13	UTSW	15	39130238	missense	probably damaging	1.00
R1826:Dcaf13	UTSW	15	39118899	missense	probably damaging	1.00
R1933:Dcaf13	UTSW	15	39138088	missense	probably damaging	0.99
R2508:Dcaf13	UTSW	15	39145152	missense	probably benign
R4113:Dcaf13	UTSW	15	39130220	missense	probably damaging	0.98
R4649:Dcaf13	UTSW	15	39138242	missense	possibly damaging	0.54
R5431:Dcaf13	UTSW	15	39123224	missense	probably benign	0.16
R5454:Dcaf13	UTSW	15	39124364	missense	probably benign
R5834:Dcaf13	UTSW	15	39143642	nonsense	probably null
R5929:Dcaf13	UTSW	15	39143653	missense	possibly damaging	0.89
R5944:Dcaf13	UTSW	15	39146677	missense	probably benign
R6319:Dcaf13	UTSW	15	39143672	missense	probably benign	0.00
R6394:Dcaf13	UTSW	15	39143737	missense	probably benign	0.04
R6664:Dcaf13	UTSW	15	39118888	missense	probably damaging	1.00
R6884:Dcaf13	UTSW	15	39123240	missense	probably damaging	1.00
R7419:Dcaf13	UTSW	15	39130220	missense	probably damaging	0.98
R8750:Dcaf13	UTSW	15	39119441	missense	probably damaging	1.00
R8944:Dcaf13	UTSW	15	39138217	missense	possibly damaging	0.79
R9294:Dcaf13	UTSW	15	39130292	missense	possibly damaging	0.92
R9300:Dcaf13	UTSW	15	39146707	missense	probably damaging	1.00
Z1088:Dcaf13	UTSW	15	39145247	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTCCACAGGAAGTAGTAAATGTG -3'
(R):5'- ACTGTTAAATGGAACCTTACACCACTG -3'

Sequencing Primer
(F):5'- AGAGCGATTGTTCTTATTTCAGTCC -3'
(R):5'- TGGAACCTTACACCACTGAACTG -3'

Posted On

2015-09-25