Mutagenetix > Incidental Mutations

Incidental Mutation 'R1496:Dcaf8'

168830

Institutional Source

Beutler Lab

Gene Symbol

Dcaf8

Ensembl Gene

ENSMUSG00000026554

Gene Name

DDB1 and CUL4 associated factor 8

Synonyms

D1Dau35e, Wdr42a, D1Ucla4, H326

MMRRC Submission

039547-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172148084-172197005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172193855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 538 (M538T)

Ref Sequence

ENSEMBL: ENSMUSP00000141732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013842] [ENSMUST00000074144] [ENSMUST00000111247] [ENSMUST00000191689] [ENSMUST00000192704] [ENSMUST00000193638]

AlphaFold

Q8N7N5

Predicted Effect

probably benign
Transcript: ENSMUST00000013842

SMART Domains

Protein: ENSMUSP00000013842
Gene: ENSMUSG00000013698

Domain	Start	End	E-Value	Type
DED	2	81	2.25e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074144
AA Change: M538T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554
AA Change: M538T

Domain	Start	End	E-Value	Type
WD40	176	215	3.42e-7	SMART
WD40	218	260	2e-1	SMART
WD40	264	306	1.71e1	SMART
WD40	314	354	5.73e0	SMART
WD40	369	409	1.43e0	SMART
WD40	415	457	2.58e-1	SMART
WD40	460	500	5.91e-2	SMART
low complexity region	544	556	N/A	INTRINSIC
low complexity region	562	584	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111247

SMART Domains

Protein: ENSMUSP00000106878
Gene: ENSMUSG00000013698

Domain	Start	End	E-Value	Type
DED	2	59	9.4e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125361

Predicted Effect

probably benign
Transcript: ENSMUST00000191689
AA Change: M538T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554
AA Change: M538T

Domain	Start	End	E-Value	Type
WD40	176	215	3.42e-7	SMART
WD40	218	260	2e-1	SMART
WD40	264	306	1.71e1	SMART
WD40	314	354	5.73e0	SMART
WD40	369	409	1.43e0	SMART
WD40	415	457	2.58e-1	SMART
WD40	460	500	5.91e-2	SMART
low complexity region	544	556	N/A	INTRINSIC
low complexity region	562	584	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000191891
AA Change: M134T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192031

Predicted Effect

probably benign
Transcript: ENSMUST00000192704
AA Change: M538T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554
AA Change: M538T

Domain	Start	End	E-Value	Type
WD40	176	215	3.42e-7	SMART
WD40	218	260	2e-1	SMART
WD40	264	306	1.71e1	SMART
WD40	314	354	5.73e0	SMART
WD40	369	409	1.43e0	SMART
WD40	415	457	2.58e-1	SMART
WD40	460	500	5.91e-2	SMART
low complexity region	544	556	N/A	INTRINSIC
low complexity region	562	584	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193638

SMART Domains

Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554

Domain	Start	End	E-Value	Type
WD40	176	215	3.42e-7	SMART
WD40	218	260	2e-1	SMART
WD40	264	306	1.71e1	SMART
WD40	314	354	5.73e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195011

Predicted Effect

probably benign
Transcript: ENSMUST00000195345

Meta Mutation Damage Score

0.1320

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,310,254		probably benign	Het
4933411K16Rik	T	C	19: 42,053,050	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,448,434	L832Q	probably damaging	Het
Acan	T	A	7: 79,100,804	H1774Q	probably benign	Het
Adss	T	C	1: 177,772,194	T275A	probably benign	Het
Ano5	G	A	7: 51,583,775	R595H	probably damaging	Het
Araf	G	T	X: 20,859,704	R522L	probably damaging	Het
Arhgef28	C	T	13: 97,965,546	V807I	possibly damaging	Het
Bin1	T	C	18: 32,412,704	I103T	probably damaging	Het
C4b	C	T	17: 34,740,021	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,678,035	P1015S	probably benign	Het
Capn1	A	G	19: 6,007,498		probably null	Het
Cep290	A	G	10: 100,538,966	Q1358R	probably damaging	Het
Cfap126	T	C	1: 171,125,817		probably benign	Het
Chn1	T	C	2: 73,679,607		probably benign	Het
Cldn8	T	C	16: 88,562,401	E212G	probably benign	Het
Cpb1	T	C	3: 20,263,532	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,810,347	I138F	probably benign	Het
Dab2ip	G	A	2: 35,718,791	R579H	probably damaging	Het
Dhrs4	T	G	14: 55,487,650	L201V	probably damaging	Het
Dnah12	C	T	14: 26,710,248	A407V	probably benign	Het
Elavl3	T	A	9: 22,026,165		probably benign	Het
Elp4	T	C	2: 105,832,161	H88R	probably benign	Het
Ercc3	T	C	18: 32,261,297		probably benign	Het
Eri1	A	G	8: 35,469,181	S329P	possibly damaging	Het
Erich2	A	T	2: 70,512,773		probably benign	Het
Esyt1	A	G	10: 128,512,428	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,835,631	E141G	probably damaging	Het
Fat1	A	G	8: 45,033,390	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,309,495	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,729,750	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,659,538	D194G	probably damaging	Het
Gpr89	A	G	3: 96,905,210	I5T	probably benign	Het
Gpx6	A	T	13: 21,318,920	H168L	probably benign	Het
Gusb	T	C	5: 129,998,544	T307A	probably benign	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Ifngr1	A	G	10: 19,601,445	D118G	probably benign	Het
Ipcef1	A	T	10: 6,935,173		probably null	Het
Kbtbd3	A	T	9: 4,330,276	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,459,885		probably null	Het
Lrp1	T	C	10: 127,539,011	D4526G	probably damaging	Het
Lrp1b	A	T	2: 42,323,662	V46D	probably damaging	Het
Lsm8	T	A	6: 18,849,659	M22K	probably benign	Het
Map1lc3b	C	T	8: 121,596,600	R70C	possibly damaging	Het
Meiob	T	A	17: 24,813,052	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330	Y183*	probably null	Het
Mrs2	T	C	13: 25,005,034	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,505,561	K151R	probably benign	Het
Neb	T	G	2: 52,328,734	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,650,078	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,904,978	T122I	probably damaging	Het
Nuggc	A	T	14: 65,624,133	N476I	probably damaging	Het
Obscn	T	A	11: 59,031,036	H5978L	probably benign	Het
Oc90	G	T	15: 65,876,521	A412D	probably damaging	Het
Olfr1080	A	T	2: 86,553,752	V124E	probably damaging	Het
Olfr1143	T	G	2: 87,802,868	S160A	probably benign	Het
Olfr1249	A	G	2: 89,630,014	S295P	possibly damaging	Het
Olfr168	T	A	16: 19,530,383	D179V	possibly damaging	Het
Olfr399	A	G	11: 74,053,824	*312Q	probably null	Het
Olfr8	T	A	10: 78,955,848	S214R	probably benign	Het
Pdzrn3	A	T	6: 101,150,969	V912E	probably benign	Het
Phactr1	T	A	13: 43,094,990	Y387N	probably damaging	Het
Picalm	T	A	7: 90,130,651	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,941,077	I314F	possibly damaging	Het
Pold2	T	C	11: 5,874,175	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,524		probably benign	Het
Rac1	G	T	5: 143,507,338	A165E	probably damaging	Het
Rpap3	G	T	15: 97,686,483	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,526,888	T1012I	probably benign	Het
Sdad1	A	G	5: 92,309,823	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,859,912	K180T	probably damaging	Het
Sgpl1	T	C	10: 61,102,589	N475S	probably damaging	Het
Shroom3	T	C	5: 92,942,834	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,119,158	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,361,171	I36V	probably benign	Het
Smarca2	C	G	19: 26,631,101	P263A	possibly damaging	Het
Sp100	T	C	1: 85,663,521		probably benign	Het
Spag6l	A	G	16: 16,780,614		probably benign	Het
Sptbn1	T	C	11: 30,121,498	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,190,951	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,868,355	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,826,393		probably null	Het
Tnfrsf9	T	A	4: 150,933,104		probably null	Het
Tnni3k	T	C	3: 154,939,658	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,805,764	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,803,350	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,946,210	H541P	probably damaging	Het
Zfp84	A	G	7: 29,776,614	I244V	possibly damaging	Het
Zyx	A	G	6: 42,356,312	Y393C	probably damaging	Het

Other mutations in Dcaf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03163:Dcaf8	APN	1	172172908	missense	probably damaging	1.00
FR4976:Dcaf8	UTSW	1	172172856	missense	probably damaging	1.00
PIT4362001:Dcaf8	UTSW	1	172172797	missense	probably damaging	0.96
R0329:Dcaf8	UTSW	1	172187411	missense	probably benign	0.42
R0458:Dcaf8	UTSW	1	172174043	missense	probably benign	0.00
R0729:Dcaf8	UTSW	1	172172654	missense	probably benign
R0731:Dcaf8	UTSW	1	172172509	missense	possibly damaging	0.66
R1389:Dcaf8	UTSW	1	172174052	missense	probably benign	0.00
R1719:Dcaf8	UTSW	1	172175495	missense	probably damaging	0.96
R1856:Dcaf8	UTSW	1	172175553	missense	probably damaging	1.00
R2342:Dcaf8	UTSW	1	172186361	missense	possibly damaging	0.48
R2512:Dcaf8	UTSW	1	172189035	missense	possibly damaging	0.95
R4163:Dcaf8	UTSW	1	172192570	missense	probably damaging	1.00
R4546:Dcaf8	UTSW	1	172179893	splice site	probably benign
R4880:Dcaf8	UTSW	1	172187489	intron	probably benign
R5092:Dcaf8	UTSW	1	172186909	missense	probably benign	0.02
R5622:Dcaf8	UTSW	1	172186398	intron	probably benign
R5734:Dcaf8	UTSW	1	172172911	missense	possibly damaging	0.65
R6245:Dcaf8	UTSW	1	172165867	start codon destroyed	probably benign	0.01
R7090:Dcaf8	UTSW	1	172188968	missense	probably damaging	0.96
R8178:Dcaf8	UTSW	1	172186319	missense	probably benign	0.22
R8734:Dcaf8	UTSW	1	172193860	missense	probably benign	0.01
R8978:Dcaf8	UTSW	1	172194557	missense	probably benign	0.00
R8985:Dcaf8	UTSW	1	172172632	missense	probably benign
R9014:Dcaf8	UTSW	1	172179963	missense	possibly damaging	0.93
R9423:Dcaf8	UTSW	1	172179957	missense	probably damaging	1.00
Z1176:Dcaf8	UTSW	1	172172929	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- CCAAACAGCAACACCAGACTCTTTGATG -3'
(R):5'- TCCAGCCACTGCAACTATAAAGCTAC -3'

Sequencing Primer
(F):5'- CCAGACTCTTTGATGAAACTCAG -3'
(R):5'- TTGCTCTAATGGGGATAAAGGC -3'

Posted On

2014-04-13