Mutagenetix > Incidental Mutation

Incidental Mutation 'R9460:Dcaf17'

714792

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

Accession Numbers

Essential gene?

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

Stock #

R9460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70885672-70929486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 70917695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 406 (V406L)

Ref Sequence

ENSEMBL: ENSMUSP00000065624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064141] [ENSMUST00000102701] [ENSMUST00000112159] [ENSMUST00000112167] [ENSMUST00000154704]

AlphaFold

Q3TUL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064141
AA Change: V406L

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000102701
AA Change: V406L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000112159

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

possibly damaging
Transcript: ENSMUST00000154704
AA Change: V406L

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	C	T	17: 57,183,316 (GRCm39)	T19I	probably damaging	Het
Alg1	T	A	16: 5,060,425 (GRCm39)	M382K	probably damaging	Het
Arhgap17	A	G	7: 122,879,286 (GRCm39)	S822P	unknown	Het
Bend7	A	C	2: 4,749,302 (GRCm39)	T140P	probably benign	Het
C1rb	T	G	6: 124,557,865 (GRCm39)	D667E	probably benign	Het
Carmil1	A	G	13: 24,253,750 (GRCm39)	C794R	probably damaging	Het
Cd36	T	C	5: 18,000,608 (GRCm39)	D365G	probably null	Het
Cep164	T	C	9: 45,685,282 (GRCm39)	N825S	probably benign	Het
Cp	T	C	3: 20,018,566 (GRCm39)	L90P		Het
Cpeb2	C	T	5: 43,390,769 (GRCm39)		probably benign	Het
Cramp1	A	G	17: 25,222,281 (GRCm39)	S146P	probably damaging	Het
Csmd3	A	T	15: 47,617,130 (GRCm39)	D1019E		Het
Cyp2d10	T	A	15: 82,289,470 (GRCm39)	D214V	probably benign	Het
Ehmt1	A	G	2: 24,728,791 (GRCm39)	V703A	probably benign	Het
Ermp1	A	C	19: 29,609,916 (GRCm39)	V293G	probably benign	Het
Fancd2os	C	A	6: 113,574,569 (GRCm39)	V146F	probably benign	Het
Galnt12	C	T	4: 47,117,983 (GRCm39)	T426I	probably damaging	Het
Gm11011	T	A	2: 169,429,289 (GRCm39)	T44S	unknown	Het
Gm2832	C	T	14: 41,000,843 (GRCm39)	T27I		Het
Klhl32	A	G	4: 24,649,866 (GRCm39)	V310A	probably benign	Het
Kntc1	T	A	5: 123,941,378 (GRCm39)	C1728*	probably null	Het
Lama2	T	A	10: 27,298,475 (GRCm39)	N207I	probably damaging	Het
Lpar5	A	G	6: 125,058,234 (GRCm39)		probably benign	Het
Map3k8	T	C	18: 4,349,277 (GRCm39)	I14V	probably benign	Het
Marf1	A	T	16: 13,947,526 (GRCm39)	V1151E	probably damaging	Het
Me1	G	A	9: 86,495,685 (GRCm39)	A274V	probably damaging	Het
Mybpc1	A	T	10: 88,372,197 (GRCm39)	I797N	probably damaging	Het
Myo15a	T	A	11: 60,372,566 (GRCm39)		probably null	Het
N4bp2	A	T	5: 65,963,886 (GRCm39)	D645V	probably benign	Het
Nlrp4f	G	T	13: 65,342,006 (GRCm39)	D546E	possibly damaging	Het
Npc1	T	C	18: 12,346,398 (GRCm39)	D266G	possibly damaging	Het
Or4a81	G	A	2: 89,618,778 (GRCm39)	S306L	probably benign	Het
Or8k16	A	G	2: 85,520,359 (GRCm39)	I195M	probably benign	Het
Pcdha12	C	T	18: 37,153,574 (GRCm39)	R98W	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigr	T	C	1: 130,772,403 (GRCm39)	I207T	probably damaging	Het
Plxnc1	T	A	10: 94,700,895 (GRCm39)	E596D	probably benign	Het
Polr1e	C	T	4: 45,018,691 (GRCm39)	P7L	probably benign	Het
Ppp5c	G	T	7: 16,741,137 (GRCm39)	Y313*	probably null	Het
Sacs	C	A	14: 61,441,611 (GRCm39)	T1219K	probably benign	Het
Scn3a	A	G	2: 65,300,535 (GRCm39)	V1277A	probably damaging	Het
Serinc5	G	T	13: 92,844,607 (GRCm39)	A450S	possibly damaging	Het
Serinc5	T	C	13: 92,844,619 (GRCm39)	C454R	probably benign	Het
Slc12a6	G	A	2: 112,183,280 (GRCm39)	V771I	probably benign	Het
Slc4a1ap	T	C	5: 31,685,463 (GRCm39)	I247T	probably benign	Het
Snx10	T	A	6: 51,565,888 (GRCm39)	S184R	probably damaging	Het
Tgm2	A	T	2: 157,971,241 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Thsd7b	T	C	1: 130,090,674 (GRCm39)		probably null	Het
Tiam2	G	A	17: 3,487,585 (GRCm39)	G702E	probably damaging	Het
Tmco4	T	A	4: 138,747,387 (GRCm39)	V212D	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vipas39	A	G	12: 87,288,021 (GRCm39)	L482P	probably damaging	Het
Vmn1r5	T	A	6: 56,962,829 (GRCm39)	M168K		Het
Vps13c	T	C	9: 67,837,904 (GRCm39)	L1818S	possibly damaging	Het
Vwa2	A	G	19: 56,886,388 (GRCm39)	I152V	probably benign	Het
Zfp180	G	A	7: 23,804,399 (GRCm39)	G273R	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
R7070:Dcaf17	UTSW	2	70,918,857 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TCTCAGTCAGCTAGAGGAGTGTG -3'
(R):5'- GTGTTCAAGTTATTTTGGCCCC -3'

Sequencing Primer
(F):5'- TCAGCTAGAGGAGTGTGTGCAC -3'
(R):5'- CTGTGTGAAAACTGCAATGAGACCC -3'

Posted On

2022-06-15