Mutagenetix > Incidental Mutations

Incidental Mutation 'R6093:Dcaf17'

486026

Institutional Source

Beutler Lab

Gene Symbol

Dcaf17

Ensembl Gene

ENSMUSG00000041966

Gene Name

DDB1 and CUL4 associated factor 17

Synonyms

MMRRC Submission

044250-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R6093 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71055328-71099142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71082012 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 314 (K314E)

Ref Sequence

ENSEMBL: ENSMUSP00000099762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064141] [ENSMUST00000102701] [ENSMUST00000112159] [ENSMUST00000112167] [ENSMUST00000135357] [ENSMUST00000154704]

Predicted Effect

probably benign
Transcript: ENSMUST00000064141
AA Change: K314E

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102701
AA Change: K314E

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

silent
Transcript: ENSMUST00000112159

Predicted Effect

probably benign
Transcript: ENSMUST00000112167

Predicted Effect

unknown
Transcript: ENSMUST00000130292
AA Change: K328E

SMART Domains

Protein: ENSMUSP00000117830
Gene: ENSMUSG00000041966
AA Change: K328E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132619

Predicted Effect

probably benign
Transcript: ENSMUST00000135357

SMART Domains

Protein: ENSMUSP00000118011
Gene: ENSMUSG00000041966

Domain	Start	End	E-Value	Type
transmembrane domain	98	117	N/A	INTRINSIC
transmembrane domain	132	151	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136299

Predicted Effect

probably benign
Transcript: ENSMUST00000154704
AA Change: K314E

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,659,870		probably benign	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Adgrl3	A	C	5: 81,646,522	R531S	probably benign	Het
Ahctf1	T	C	1: 179,762,952	D1252G	probably benign	Het
Ano1	T	C	7: 144,611,377	N648S	possibly damaging	Het
Antxr2	C	A	5: 98,030,460	L30F	probably damaging	Het
Apol9a	T	A	15: 77,404,420	N249I	probably benign	Het
Atp2a1	A	G	7: 126,446,921	V977A	probably damaging	Het
Clmn	T	C	12: 104,771,956	T968A	probably benign	Het
Clstn2	A	T	9: 97,458,210	I703N	probably damaging	Het
Cnot1	T	C	8: 95,748,894	T1051A	probably benign	Het
Csde1	A	G	3: 103,052,902	Y615C	probably damaging	Het
Dnah10	A	T	5: 124,753,174	I711F	probably benign	Het
Duox1	G	T	2: 122,347,274	R1513L	probably benign	Het
Exph5	A	G	9: 53,372,617	T333A	possibly damaging	Het
Fmnl2	A	G	2: 53,114,868	D658G	probably damaging	Het
Gcgr	T	A	11: 120,538,121	L395Q	probably damaging	Het
Gm10801	C	CGTA	2: 98,663,807		probably null	Het
Gm11487	T	C	4: 73,402,021	I174V	probably benign	Het
Greb1	C	T	12: 16,684,486	C1501Y	probably benign	Het
Iqgap2	A	G	13: 95,628,963	V1533A	probably damaging	Het
Kcnc3	A	C	7: 44,591,508	D208A	probably benign	Het
Kctd14	A	G	7: 97,454,953		probably benign	Het
Mcm5	C	A	8: 75,109,746	D13E	probably benign	Het
Med23	A	G	10: 24,878,443	I221V	probably benign	Het
Myo19	T	C	11: 84,885,709	F64L	probably damaging	Het
Ncapd3	T	G	9: 27,056,158	S597A	probably damaging	Het
Neb	A	T	2: 52,251,770	Y72*	probably null	Het
Nrip1	C	T	16: 76,294,764		probably benign	Het
Olfr196	T	A	16: 59,167,967	M59L	probably damaging	Het
Otx1	A	T	11: 21,999,406	L24H	probably damaging	Het
Phkb	T	A	8: 85,942,329	D328E	probably damaging	Het
Phyh	G	T	2: 4,919,085	A6S	possibly damaging	Het
Pole	A	T	5: 110,312,090	Q1120L	probably benign	Het
Rbmxl1	T	C	8: 78,505,943	Y257C	probably damaging	Het
Smurf2	A	T	11: 106,868,623	H69Q	possibly damaging	Het
Tmem167b	A	T	3: 108,562,123	M1K	probably null	Het
Tmod4	A	T	3: 95,125,618	T22S	probably benign	Het
Triml1	T	C	8: 43,140,718	I149M	probably benign	Het
Vmn2r108	T	C	17: 20,481,140	T33A	probably benign	Het
Vmn2r76	T	A	7: 86,228,261	R525*	probably null	Het
Zfp109	A	T	7: 24,229,133	W292R	probably benign	Het
Zfp292	C	T	4: 34,811,902	A381T	probably damaging	Het
Zfp791	C	T	8: 85,113,506		probably null	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
R4585:Dcaf17	UTSW	2	71088580	missense	probably benign	0.00
R4586:Dcaf17	UTSW	2	71088580	missense	probably benign	0.00
R7070:Dcaf17	UTSW	2	71088513	missense	probably benign	0.00
R8289:Dcaf17	UTSW	2	71055374	missense
R8418:Dcaf17	UTSW	2	71088373	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTAATGACGGGTGCAAGTC -3'
(R):5'- GGGTGACAAAACACTATTTCCTG -3'

Sequencing Primer
(F):5'- GTGCAAGTCCAACCAGAATG -3'
(R):5'- ACATGCCTTTAATCCCAGCATTGG -3'

Posted On

2017-08-16