Mutagenetix > Incidental Mutations

Incidental Mutation 'R4585:Dcaf17'

343982

Institutional Source

Beutler Lab

Gene Symbol

Dcaf17

Ensembl Gene

ENSMUSG00000041966

Gene Name

DDB1 and CUL4 associated factor 17

Synonyms

MMRRC Submission

041806-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.447) question?

Stock #

R4585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71055328-71099142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71088580 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 499 (S499R)

Ref Sequence

ENSEMBL: ENSMUSP00000099762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064141] [ENSMUST00000102701] [ENSMUST00000112167] [ENSMUST00000154704]

Predicted Effect

probably benign
Transcript: ENSMUST00000064141

Predicted Effect

probably benign
Transcript: ENSMUST00000102701
AA Change: S499R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000112167

Predicted Effect

probably benign
Transcript: ENSMUST00000130292

SMART Domains

Protein: ENSMUSP00000117830
Gene: ENSMUSG00000041966

Domain	Start	End	E-Value	Type
Pfam:DCAF17	55	405	6.6e-166	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154704

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 3,976,151	S1269P	probably benign	Het
Akr7a5	G	T	4: 139,310,927	R58L	probably benign	Het
Art2a-ps	A	T	7: 101,554,749	L194*	probably null	Het
Aurkaip1	C	A	4: 155,832,634	A113D	possibly damaging	Het
Bsn	T	C	9: 108,110,463		probably benign	Het
Ccdc175	T	G	12: 72,175,179	D123A	possibly damaging	Het
Ccdc7b	A	G	8: 129,110,920	T131A	probably benign	Het
Ccnt2	T	C	1: 127,803,029	S548P	probably damaging	Het
Cep126	T	C	9: 8,103,337	Q224R	probably damaging	Het
Cic	A	T	7: 25,272,778	I645L	probably benign	Het
Cngb1	C	T	8: 95,297,128		probably null	Het
Col13a1	T	C	10: 61,887,245		probably null	Het
Corin	A	T	5: 72,329,699	V706D	probably damaging	Het
Crebrf	A	G	17: 26,762,255	K535R	probably damaging	Het
Cuzd1	G	A	7: 131,314,800	P310L	probably damaging	Het
Cxcr5	T	A	9: 44,514,145	I72F	probably benign	Het
Dapp1	T	C	3: 137,939,171	Q148R	probably benign	Het
Defb3	A	T	8: 19,295,156	I43F	possibly damaging	Het
Dlgap2	G	A	8: 14,727,999		probably null	Het
Dnah8	A	G	17: 30,751,567	D2684G	probably benign	Het
Dnajc10	T	G	2: 80,347,778	F710V	probably damaging	Het
Ep400	G	A	5: 110,753,859	T464I	probably damaging	Het
Epc1	G	A	18: 6,441,157	Q14*	probably null	Het
Eral1	A	T	11: 78,078,304	N123K	probably damaging	Het
Ercc5	G	A	1: 44,158,857	V145I	probably benign	Het
Evc	A	G	5: 37,323,713	S263P	probably damaging	Het
Fancc	A	T	13: 63,347,564	M182K	probably benign	Het
Fbxl3	G	T	14: 103,083,090	A355E	probably damaging	Het
Glra3	C	A	8: 56,088,993	T257K	probably damaging	Het
Gm12789	A	G	4: 101,989,962	Y148C	possibly damaging	Het
Gm14393	C	A	2: 175,062,704		probably benign	Het
Gm19965	T	A	1: 116,821,778	N396K	probably benign	Het
Gm27013	A	T	6: 130,521,040		noncoding transcript	Het
Gmcl1	A	G	6: 86,722,623	S141P	probably damaging	Het
Gsdmd	T	A	15: 75,865,751		probably null	Het
Gtf2a1	C	T	12: 91,562,926	V338I	possibly damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Hist1h2ak	T	C	13: 21,753,712	N39S	possibly damaging	Het
Ints2	G	T	11: 86,249,275	R244S	probably damaging	Het
Itgb4	T	C	11: 115,993,325	V945A	probably damaging	Het
Itih2	C	T	2: 10,110,400	S387N	probably benign	Het
Klra2	T	A	6: 131,230,157	D163V	probably benign	Het
Lctl	T	C	9: 64,131,600	S324P	probably damaging	Het
Lrrc24	C	A	15: 76,723,689	R43L	probably damaging	Het
Mogs	G	T	6: 83,118,638	R812L	possibly damaging	Het
Mroh5	T	A	15: 73,789,271	T467S	probably benign	Het
Mtap	G	A	4: 89,172,274	V194I	probably benign	Het
Myoz1	A	G	14: 20,650,595	W185R	probably damaging	Het
Nufip2	T	C	11: 77,741,728	V690A	unknown	Het
Obox1	A	T	7: 15,556,227	N165I	possibly damaging	Het
Olfr1218	T	G	2: 89,055,154	I91L	possibly damaging	Het
Olfr3	C	T	2: 36,812,525	C189Y	probably damaging	Het
Olfr32	T	A	2: 90,138,214	E308D	probably benign	Het
Olfr781	A	G	10: 129,333,273	T131A	probably benign	Het
Pabpc6	A	G	17: 9,669,073	L183P	probably damaging	Het
Pcdh15	C	T	10: 74,624,284	R1355W	probably damaging	Het
Pcdhgb8	C	A	18: 37,762,360	A161E	probably benign	Het
Pex1	A	G	5: 3,633,885	Y1127C	probably damaging	Het
Phc2	A	T	4: 128,743,510	H563L	probably damaging	Het
Plekha2	C	A	8: 25,043,669	E291*	probably null	Het
Qser1	C	A	2: 104,786,793	V1225L	probably benign	Het
Ralgapa2	A	T	2: 146,315,024	D1882E	probably damaging	Het
Rgs17	T	C	10: 5,842,596	D70G	probably benign	Het
Runx1t1	A	T	4: 13,889,864	T598S	unknown	Het
Scn2a	T	A	2: 65,743,051		probably null	Het
Serpinb10	T	A	1: 107,547,049	C314S	probably benign	Het
Setbp1	A	C	18: 79,086,949	S23A	probably benign	Het
Sh3pxd2b	A	G	11: 32,396,479	D116G	possibly damaging	Het
Slc4a1	G	T	11: 102,361,419		probably benign	Het
Snx19	T	C	9: 30,440,195	L155P	probably damaging	Het
Sox2	A	G	3: 34,651,044	N210S	probably benign	Het
Spag6	T	C	2: 18,732,147		probably null	Het
Speer4b	A	T	5: 27,498,038	L154Q	probably null	Het
Strn3	T	A	12: 51,650,170	E259D	probably benign	Het
Tenm1	G	A	X: 42,537,979	Q1931*	probably null	Het
Trp53bp1	C	G	2: 121,207,951	G1469R	probably damaging	Het
Ttc8	C	A	12: 98,982,530	Q492K	probably benign	Het
Ttn	T	C	2: 76,968,403	H509R	probably benign	Het
Utrn	T	A	10: 12,688,306	H1270L	probably benign	Het
Vopp1	G	A	6: 57,754,548	P153S	probably damaging	Het
Wdfy4	T	A	14: 33,087,955	I1770F	possibly damaging	Het
Zfp14	G	T	7: 30,038,916	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,732,952	Y651*	probably null	Het
Zfp735	G	T	11: 73,689,724	E16D	possibly damaging	Het

Other mutations in Dcaf17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Dcaf17	APN	2	71078159	missense	probably benign	0.03
IGL01125:Dcaf17	APN	2	71089805	missense	probably benign	0.03
IGL01761:Dcaf17	APN	2	71056537	missense	probably damaging	1.00
IGL02641:Dcaf17	APN	2	71082031	missense	probably damaging	1.00
R0081:Dcaf17	UTSW	2	71078468	splice site	probably benign
R0388:Dcaf17	UTSW	2	71078571	missense	probably benign	0.02
R0593:Dcaf17	UTSW	2	71087400	critical splice donor site	probably null
R0637:Dcaf17	UTSW	2	71060419	missense	probably damaging	0.99
R0661:Dcaf17	UTSW	2	71088435	missense	probably damaging	1.00
R1281:Dcaf17	UTSW	2	71078156	missense	probably damaging	1.00
R1454:Dcaf17	UTSW	2	71073173	missense	probably damaging	1.00
R1501:Dcaf17	UTSW	2	71081988	missense	probably damaging	1.00
R1908:Dcaf17	UTSW	2	71060369	nonsense	probably null
R1919:Dcaf17	UTSW	2	71078172	splice site	probably null
R2882:Dcaf17	UTSW	2	71082027	missense	possibly damaging	0.96
R4586:Dcaf17	UTSW	2	71088580	missense	probably benign	0.00
R6093:Dcaf17	UTSW	2	71082012	missense	possibly damaging	0.51
R7070:Dcaf17	UTSW	2	71088513	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTCACTCAAATAGATGCTGAAGG -3'
(R):5'- GTAAGATGGTAGGTACCCTTTCTTTC -3'

Sequencing Primer
(F):5'- GGAAAAGCTCACCTGGATTTC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2015-09-24