Mutagenetix > Incidental Mutation

Incidental Mutation 'R7070:Dcaf17'

548812

Institutional Source

Beutler Lab

Gene Symbol

Dcaf17

Ensembl Gene

ENSMUSG00000041966

Gene Name

DDB1 and CUL4 associated factor 17

Synonyms

4833418A01Rik, 2810055O12Rik, A030004A10Rik, A930009G19Rik

MMRRC Submission

045166-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R7070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70885672-70929486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70918857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 477 (T477M)

Ref Sequence

ENSEMBL: ENSMUSP00000099762 (fasta)

Gene Model

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

AlphaFold

Q3TUL7

Predicted Effect

probably benign
Transcript: ENSMUST00000064141

Predicted Effect

probably benign
Transcript: ENSMUST00000102701
AA Change: T477M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,232 (GRCm39)	Y156H	probably damaging	Het
Abca13	T	A	11: 9,240,701 (GRCm39)	F855I	probably benign	Het
Abca2	T	G	2: 25,333,007 (GRCm39)	F1569V	probably benign	Het
Adcy8	T	A	15: 64,792,404 (GRCm39)	N184I	probably damaging	Het
Akap3	T	C	6: 126,850,987 (GRCm39)	V835A	probably damaging	Het
Atg5	T	A	10: 44,162,150 (GRCm39)	L22H	probably damaging	Het
Atp13a5	A	G	16: 29,152,879 (GRCm39)	F196L	possibly damaging	Het
C1qtnf9	A	G	14: 61,017,232 (GRCm39)	H254R	probably damaging	Het
Capza3	C	T	6: 139,987,646 (GRCm39)	R82C	probably damaging	Het
Ccdc126	A	G	6: 49,316,796 (GRCm39)	D92G	probably damaging	Het
Cdh12	T	A	15: 21,583,915 (GRCm39)	M585K	probably benign	Het
Chrnb3	A	T	8: 27,883,989 (GRCm39)	Y242F	probably damaging	Het
Cngb3	T	C	4: 19,425,593 (GRCm39)	V467A	possibly damaging	Het
Cnot8	A	G	11: 58,008,278 (GRCm39)	D248G	probably benign	Het
Cntn1	C	T	15: 92,151,917 (GRCm39)	T452M	probably damaging	Het
Cygb	C	A	11: 116,544,851 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,477,879 (GRCm39)	V35M	probably damaging	Het
Dpp3	A	T	19: 4,968,356 (GRCm39)	F239I	probably benign	Het
Dst	T	A	1: 34,314,383 (GRCm39)	V6442E	probably damaging	Het
Enpp2	T	A	15: 54,762,685 (GRCm39)	I188F	probably damaging	Het
Galnt5	A	G	2: 57,888,621 (GRCm39)	M74V	probably benign	Het
Grin2a	T	C	16: 9,397,288 (GRCm39)	D933G	possibly damaging	Het
Gtf2i	T	A	5: 134,311,657 (GRCm39)	E223D	probably damaging	Het
H2-M5	C	A	17: 37,300,051 (GRCm39)	G41V	possibly damaging	Het
Hars2	C	T	18: 36,924,165 (GRCm39)	R501*	probably null	Het
Heatr4	A	G	12: 84,016,632 (GRCm39)	V545A	probably benign	Het
Hsd3b3	T	A	3: 98,649,787 (GRCm39)	T179S	possibly damaging	Het
Ighv5-6	A	G	12: 113,589,429 (GRCm39)	V17A	probably damaging	Het
Jak3	A	G	8: 72,137,255 (GRCm39)	D772G	probably damaging	Het
Jakmip2	A	T	18: 43,690,393 (GRCm39)		probably null	Het
Kcnj15	C	G	16: 95,096,690 (GRCm39)	T104S	probably damaging	Het
Kndc1	A	G	7: 139,501,744 (GRCm39)	E927G	probably damaging	Het
Larp1b	G	T	3: 40,931,086 (GRCm39)	G275C	probably damaging	Het
Lyst	C	A	13: 13,932,029 (GRCm39)	H3552Q	probably benign	Het
Mast2	A	T	4: 116,168,052 (GRCm39)	I960N	probably benign	Het
Mcee	G	A	7: 64,050,078 (GRCm39)	V70I	possibly damaging	Het
Muc16	G	A	9: 18,557,219 (GRCm39)	Q3025*	probably null	Het
Nrg1	T	A	8: 32,339,465 (GRCm39)	T45S	probably damaging	Het
Nutm1	T	A	2: 112,079,806 (GRCm39)	H703L	probably benign	Het
Or5m10	G	A	2: 85,718,034 (GRCm39)	V297I	probably benign	Het
Or7a38	A	T	10: 78,753,102 (GRCm39)	I143L	probably benign	Het
Pbx1	A	C	1: 168,023,337 (GRCm39)	C273G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Phf1	A	G	17: 27,153,307 (GRCm39)	T42A	possibly damaging	Het
Pigm	T	A	1: 172,205,233 (GRCm39)	I323N	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Ptx4	G	A	17: 25,341,971 (GRCm39)	A149T	probably benign	Het
Rab6a	A	G	7: 100,279,064 (GRCm39)	D68G	probably damaging	Het
Rcan3	C	T	4: 135,143,898 (GRCm39)	E185K	probably damaging	Het
Rnf14	A	G	18: 38,434,781 (GRCm39)	N76S	possibly damaging	Het
Rpf1	A	T	3: 146,217,939 (GRCm39)	F192I	probably damaging	Het
Rps6ka1	T	C	4: 133,588,759 (GRCm39)	T285A	probably benign	Het
Rrp8	T	C	7: 105,384,083 (GRCm39)	K94E	possibly damaging	Het
Rsbn1	A	G	3: 103,836,299 (GRCm39)	K122E	probably damaging	Het
Senp1	T	C	15: 97,980,187 (GRCm39)	T53A	possibly damaging	Het
Slc23a1	T	G	18: 35,754,834 (GRCm39)	D519A	probably damaging	Het
Slfn14	T	G	11: 83,167,531 (GRCm39)	R661S	probably benign	Het
Snta1	T	C	2: 154,222,979 (GRCm39)	E248G	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spmap2l	G	T	5: 77,195,124 (GRCm39)		probably null	Het
Stk11ip	C	T	1: 75,504,259 (GRCm39)	H297Y	probably benign	Het
Synpr	T	A	14: 13,493,628 (GRCm38)	F76I	probably damaging	Het
Tns2	A	G	15: 102,012,968 (GRCm39)	R27G	possibly damaging	Het
Trav5-4	C	T	14: 53,941,912 (GRCm39)	S95F	possibly damaging	Het
Ttyh1	T	C	7: 4,136,363 (GRCm39)	Y330H	probably damaging	Het
Ugt1a2	T	A	1: 88,129,224 (GRCm39)		probably null	Het
Vmn2r69	T	C	7: 85,060,688 (GRCm39)	I299V	probably damaging	Het
Vmn2r90	T	A	17: 17,924,313 (GRCm39)	D37E	probably damaging	Het

Other mutations in Dcaf17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Dcaf17	APN	2	70,908,503 (GRCm39)	missense	probably benign	0.03
IGL01125:Dcaf17	APN	2	70,920,149 (GRCm39)	missense	probably benign	0.03
IGL01761:Dcaf17	APN	2	70,886,881 (GRCm39)	missense	probably damaging	1.00
IGL02641:Dcaf17	APN	2	70,912,375 (GRCm39)	missense	probably damaging	1.00
R0081:Dcaf17	UTSW	2	70,908,812 (GRCm39)	splice site	probably benign
R0388:Dcaf17	UTSW	2	70,908,915 (GRCm39)	missense	probably benign	0.02
R0593:Dcaf17	UTSW	2	70,917,744 (GRCm39)	critical splice donor site	probably null
R0637:Dcaf17	UTSW	2	70,890,763 (GRCm39)	missense	probably damaging	0.99
R0661:Dcaf17	UTSW	2	70,918,779 (GRCm39)	missense	probably damaging	1.00
R1281:Dcaf17	UTSW	2	70,908,500 (GRCm39)	missense	probably damaging	1.00
R1454:Dcaf17	UTSW	2	70,903,517 (GRCm39)	missense	probably damaging	1.00
R1501:Dcaf17	UTSW	2	70,912,332 (GRCm39)	missense	probably damaging	1.00
R1908:Dcaf17	UTSW	2	70,890,713 (GRCm39)	nonsense	probably null
R1919:Dcaf17	UTSW	2	70,908,516 (GRCm39)	splice site	probably null
R2882:Dcaf17	UTSW	2	70,912,371 (GRCm39)	missense	possibly damaging	0.96
R4585:Dcaf17	UTSW	2	70,918,924 (GRCm39)	missense	probably benign	0.00
R4586:Dcaf17	UTSW	2	70,918,924 (GRCm39)	missense	probably benign	0.00
R6093:Dcaf17	UTSW	2	70,912,356 (GRCm39)	missense	possibly damaging	0.51
R8289:Dcaf17	UTSW	2	70,885,718 (GRCm39)	missense
R8418:Dcaf17	UTSW	2	70,918,717 (GRCm39)	missense	probably damaging	1.00
R8681:Dcaf17	UTSW	2	70,886,913 (GRCm39)	nonsense	probably null
R8786:Dcaf17	UTSW	2	70,917,744 (GRCm39)	critical splice donor site	probably null
R8879:Dcaf17	UTSW	2	70,893,746 (GRCm39)	missense	possibly damaging	0.85
R9072:Dcaf17	UTSW	2	70,920,136 (GRCm39)	missense	probably benign	0.01
R9312:Dcaf17	UTSW	2	70,908,458 (GRCm39)	missense	probably benign	0.01
R9460:Dcaf17	UTSW	2	70,917,695 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

Posted On

2019-05-13