Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Dcaf17'

676744

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

068747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70885672-70929486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70893746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 122 (I122K)

Ref Sequence

ENSEMBL: ENSMUSP00000065624 (fasta)

Gene Model

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

AlphaFold

Q3TUL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064141
AA Change: I122K

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000102701
AA Change: I122K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000112159
AA Change: I122K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112167
AA Change: I122K

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117830
Gene: ENSMUSG00000041966
AA Change: I136K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135357
AA Change: I35K

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118011
Gene: ENSMUSG00000041966
AA Change: I35K

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

possibly damaging
Transcript: ENSMUST00000154704
AA Change: I122K

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

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
9130401M01Rik	C	T	15: 57,885,905 (GRCm39)	V326M	probably damaging	Het
Adap2	T	A	11: 80,047,785 (GRCm39)	H80Q	probably benign	Het
Ang4	T	C	14: 52,001,943 (GRCm39)	T2A	probably benign	Het
Arf2	T	C	11: 103,870,585 (GRCm39)		probably null	Het
B3gnt4	A	G	5: 123,649,211 (GRCm39)	D192G	probably damaging	Het
BC034090	T	C	1: 155,102,103 (GRCm39)	I54V	probably benign	Het
Catsper3	A	G	13: 55,952,708 (GRCm39)	T202A	probably benign	Het
Cenpe	T	A	3: 134,965,862 (GRCm39)	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,602,773 (GRCm39)	V191A	probably benign	Het
Col5a1	G	T	2: 27,904,170 (GRCm39)	A1356S	unknown	Het
Cuzd1	A	G	7: 130,910,577 (GRCm39)	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,589,168 (GRCm39)	M215I	possibly damaging	Het
Dhcr24	A	G	4: 106,431,006 (GRCm39)	I232V	probably benign	Het
Dnah10	A	G	5: 124,895,181 (GRCm39)	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,621,988 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,581,781 (GRCm39)	I41T	probably benign	Het
Ehd1	A	G	19: 6,348,354 (GRCm39)	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,726,488 (GRCm39)	M766L	possibly damaging	Het
Eno4	A	G	19: 58,959,154 (GRCm39)	I613M	probably benign	Het
Exoc3l	A	T	8: 106,017,181 (GRCm39)	M602K		Het
Fam107a	C	T	14: 8,301,352 (GRCm38)		probably null	Het
Frem3	A	T	8: 81,339,777 (GRCm39)	D690V	probably damaging	Het
Gm19410	A	T	8: 36,239,022 (GRCm39)	D97V	probably damaging	Het
Grik5	T	A	7: 24,722,489 (GRCm39)	D540V	possibly damaging	Het
Hint1	T	A	11: 54,760,769 (GRCm39)	D69E	probably benign	Het
Krt13	T	C	11: 100,010,211 (GRCm39)	T257A	probably benign	Het
Lpin2	T	C	17: 71,549,749 (GRCm39)	L676P	probably damaging	Het
Lrguk	A	G	6: 34,006,618 (GRCm39)	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,146,310 (GRCm39)	M375V	probably benign	Het
Lrrtm3	T	C	10: 63,925,017 (GRCm39)	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,953,513 (GRCm39)	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,185,767 (GRCm39)	I135T	probably damaging	Het
Neb	T	C	2: 52,125,592 (GRCm39)	D475G		Het
Notch2	A	G	3: 98,042,915 (GRCm39)	S1427G	possibly damaging	Het
Odad4	G	T	11: 100,457,752 (GRCm39)	E452*	probably null	Het
Opcml	T	C	9: 28,813,447 (GRCm39)	F246S	probably damaging	Het
Or10al2	C	A	17: 37,983,302 (GRCm39)	Y129*	probably null	Het
Or2ag1b	A	T	7: 106,288,296 (GRCm39)	I214N	probably damaging	Het
Or56a42-ps1	A	G	7: 104,775,893 (GRCm39)	V195A	probably benign	Het
Or6c69	A	G	10: 129,747,731 (GRCm39)	C139R	probably damaging	Het
Or8g33	A	C	9: 39,337,515 (GRCm39)	V284G	possibly damaging	Het
Pdzd2	C	A	15: 12,402,405 (GRCm39)	V729F	probably damaging	Het
Pias2	C	T	18: 77,234,464 (GRCm39)	Q565*	probably null	Het
Pnp	T	A	14: 51,188,177 (GRCm39)		probably null	Het
Ptpn18	T	C	1: 34,502,211 (GRCm39)	S76P	probably benign	Het
Qtrt2	A	T	16: 43,683,560 (GRCm39)	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,507,401 (GRCm39)	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,313,711 (GRCm39)	V1477E	probably benign	Het
Repin1	C	T	6: 48,574,367 (GRCm39)	T432I	possibly damaging	Het
Rest	G	A	5: 77,430,358 (GRCm39)	G926R	probably benign	Het
Rnft1	T	A	11: 86,377,516 (GRCm39)	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,282,108 (GRCm39)	I415L	probably benign	Het
Slc10a1	T	A	12: 81,014,369 (GRCm39)	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,366,709 (GRCm39)		probably benign	Het
Slc2a2	T	C	3: 28,767,951 (GRCm39)	S160P	possibly damaging	Het
Srrd	A	G	5: 112,486,322 (GRCm39)	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,829,277 (GRCm39)	G198C	probably benign	Het
Trbv28	G	A	6: 41,248,339 (GRCm39)	M1I	probably null	Het
Tril	A	G	6: 53,796,569 (GRCm39)	S218P	probably damaging	Het
Trip11	T	C	12: 101,828,857 (GRCm39)	K1749R	probably benign	Het
Ttn	A	G	2: 76,660,995 (GRCm39)	V12011A		Het
Ubr4	T	G	4: 139,137,829 (GRCm39)	F1093V	probably benign	Het
Urb2	C	A	8: 124,755,142 (GRCm39)	A283E	probably benign	Het
Usp43	T	A	11: 67,789,707 (GRCm39)		probably benign	Het
Vmn1r28	A	T	6: 58,242,669 (GRCm39)	I171F	probably benign	Het
Vps33a	G	A	5: 123,671,962 (GRCm39)	R469W	probably damaging	Het
Zfp202	G	A	9: 40,123,053 (GRCm39)	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,445,446 (GRCm39)	H158L	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
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

PCR Primer
(F):5'- CCAGTTAAAGTAACAGGCACAG -3'
(R):5'- CTGGAGAGAGGCTTAAGATTTCC -3'

Sequencing Primer
(F):5'- GCACAGCCTCGTCTGTC -3'
(R):5'- AAGATTTCCTAGGTCGCAGGTCTC -3'

Posted On

2021-07-15