Mutagenetix > Incidental Mutation

Incidental Mutation 'R0729:Dcaf8'

67357

Institutional Source

Beutler Lab

Gene Symbol

Dcaf8

Ensembl Gene

ENSMUSG00000026554

Gene Name

DDB1 and CUL4 associated factor 8

Synonyms

D1Ucla4, D1Dau35e, Wdr42a, H326

MMRRC Submission

038910-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R0729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171975574-172023960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172000221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 126 (D126E)

Ref Sequence

ENSEMBL: ENSMUSP00000141836 (fasta)

Gene Model

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

AlphaFold

Q8N7N5

Predicted Effect

probably benign
Transcript: ENSMUST00000074144
AA Change: D126E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554
AA Change: D126E

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: ENSMUST00000191689
AA Change: D126E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554
AA Change: D126E

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

noncoding transcript
Transcript: ENSMUST00000192031

Predicted Effect

probably benign
Transcript: ENSMUST00000192704
AA Change: D126E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554
AA Change: D126E

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
AA Change: D126E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554
AA Change: D126E

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: ENSMUST00000194972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195394

Predicted Effect

probably benign
Transcript: ENSMUST00000195345

Meta Mutation Damage Score

0.0573

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.0%

Validation Efficiency

97% (74/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,050,281 (GRCm39)	A828S	probably benign	Het
Acsm3	T	C	7: 119,383,207 (GRCm39)		probably benign	Het
Adamts12	G	A	15: 11,255,769 (GRCm39)	R446H	possibly damaging	Het
Adgrb1	A	G	15: 74,420,398 (GRCm39)	N849S	probably damaging	Het
Ankra2	A	G	13: 98,408,235 (GRCm39)	D228G	probably damaging	Het
Bicd1	T	C	6: 149,414,412 (GRCm39)	V375A	probably damaging	Het
Blvrb	A	G	7: 27,147,555 (GRCm39)	K5E	possibly damaging	Het
Cacna2d2	A	G	9: 107,394,456 (GRCm39)	N573D	probably benign	Het
Calhm2	C	A	19: 47,121,356 (GRCm39)	G271V	possibly damaging	Het
Capn13	C	T	17: 73,629,064 (GRCm39)	G581E	probably damaging	Het
Capzb	T	C	4: 139,016,288 (GRCm39)		probably benign	Het
Casd1	T	C	6: 4,619,753 (GRCm39)		probably benign	Het
Clca4b	A	G	3: 144,634,111 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crx	A	G	7: 15,605,058 (GRCm39)		probably benign	Het
Cyp2c68	T	C	19: 39,727,994 (GRCm39)		probably benign	Het
Ddx31	T	C	2: 28,764,186 (GRCm39)	I464T	probably damaging	Het
Dhx32	G	A	7: 133,339,150 (GRCm39)	T155I	probably benign	Het
Elac2	C	A	11: 64,889,349 (GRCm39)	P567T	possibly damaging	Het
Fat4	A	G	3: 39,054,444 (GRCm39)		probably benign	Het
Fh1	T	G	1: 175,442,383 (GRCm39)	N156H	probably damaging	Het
Gm10064	T	C	5: 122,835,584 (GRCm39)		noncoding transcript	Het
Gm14137	A	G	2: 119,005,834 (GRCm39)	E131G	probably benign	Het
Gpr22	T	A	12: 31,759,312 (GRCm39)	K233M	probably damaging	Het
Gpr63	A	G	4: 25,007,480 (GRCm39)	N68S	probably benign	Het
Gypa	C	T	8: 81,223,421 (GRCm39)	P66S	unknown	Het
Htr2a	A	T	14: 74,879,587 (GRCm39)	Q72L	probably benign	Het
Klhdc7b	C	T	15: 89,271,598 (GRCm39)	R827*	probably null	Het
Leo1	G	A	9: 75,364,420 (GRCm39)	R520Q	possibly damaging	Het
Lrrc66	T	C	5: 73,765,757 (GRCm39)	M429V	probably benign	Het
Lrrc74a	C	T	12: 86,792,353 (GRCm39)	Q225*	probably null	Het
Mamdc4	T	A	2: 25,460,048 (GRCm39)	N68Y	probably damaging	Het
Map3k10	G	A	7: 27,360,992 (GRCm39)	P507L	probably damaging	Het
Methig1	T	A	15: 100,272,870 (GRCm39)	C68S	probably benign	Het
Metrn	C	T	17: 26,015,202 (GRCm39)		probably benign	Het
Mmp12	C	T	9: 7,358,290 (GRCm39)	T392I	possibly damaging	Het
Mss51	A	T	14: 20,533,160 (GRCm39)	I437N	probably damaging	Het
Mtus2	A	G	5: 148,014,097 (GRCm39)	T297A	probably benign	Het
Myo10	T	C	15: 25,722,243 (GRCm39)		probably benign	Het
Ncoa7	G	A	10: 30,567,575 (GRCm39)	P319S	probably benign	Het
Nlrp4d	A	T	7: 10,111,612 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,923,535 (GRCm39)	S6455P	probably damaging	Het
Or5b97	T	C	19: 12,878,259 (GRCm39)	N295S	probably damaging	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Pcdh12	A	G	18: 38,415,517 (GRCm39)	I536T	probably benign	Het
Pex5l	G	T	3: 33,008,685 (GRCm39)		probably benign	Het
Pla2g2e	A	C	4: 138,608,046 (GRCm39)	K43Q	possibly damaging	Het
Rasa4	T	C	5: 136,130,924 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,328,234 (GRCm39)	R1079W	probably damaging	Het
Sez6	A	G	11: 77,867,411 (GRCm39)	T803A	probably benign	Het
Shcbp1	T	A	8: 4,786,297 (GRCm39)	N602Y	probably benign	Het
Slc16a13	G	A	11: 70,109,857 (GRCm39)	P215S	probably damaging	Het
Slc39a6	T	C	18: 24,734,527 (GRCm39)	Q54R	probably benign	Het
Smg1	C	A	7: 117,745,512 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,797,156 (GRCm39)	N110D	probably damaging	Het
Sptbn1	A	T	11: 30,060,902 (GRCm39)	S2010T	probably damaging	Het
Sun1	T	A	5: 139,223,619 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,860,736 (GRCm39)	E717G	probably damaging	Het
Tle1	A	T	4: 72,044,679 (GRCm39)		probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Tmem63b	A	G	17: 45,985,060 (GRCm39)	S179P	probably damaging	Het
Trpm3	T	A	19: 22,965,153 (GRCm39)	F1549L	probably benign	Het
Ubr4	A	T	4: 139,212,631 (GRCm39)	Y5063F	possibly damaging	Het
Uroc1	T	A	6: 90,313,937 (GRCm39)	Y75N	probably damaging	Het
Vmn2r70	T	C	7: 85,215,112 (GRCm39)	T141A	probably benign	Het
Vps13c	A	G	9: 67,868,931 (GRCm39)	K3128E	probably damaging	Het
Wdr26	T	C	1: 181,013,470 (GRCm39)		probably null	Het
Wrn	T	A	8: 33,738,946 (GRCm39)		probably null	Het
Zfp106	C	T	2: 120,385,729 (GRCm39)	V13M	probably damaging	Het
Zfp456	G	A	13: 67,514,663 (GRCm39)	H348Y	probably damaging	Het
Zfpm1	G	A	8: 123,063,398 (GRCm39)	R819H	probably benign	Het

Other mutations in Dcaf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03163:Dcaf8	APN	1	172,000,475 (GRCm39)	missense	probably damaging	1.00
FR4976:Dcaf8	UTSW	1	172,000,423 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Dcaf8	UTSW	1	172,000,364 (GRCm39)	missense	probably damaging	0.96
R0329:Dcaf8	UTSW	1	172,014,978 (GRCm39)	missense	probably benign	0.42
R0458:Dcaf8	UTSW	1	172,001,610 (GRCm39)	missense	probably benign	0.00
R0731:Dcaf8	UTSW	1	172,000,076 (GRCm39)	missense	possibly damaging	0.66
R1389:Dcaf8	UTSW	1	172,001,619 (GRCm39)	missense	probably benign	0.00
R1496:Dcaf8	UTSW	1	172,021,422 (GRCm39)	missense	probably benign	0.39
R1719:Dcaf8	UTSW	1	172,003,062 (GRCm39)	missense	probably damaging	0.96
R1856:Dcaf8	UTSW	1	172,003,120 (GRCm39)	missense	probably damaging	1.00
R2342:Dcaf8	UTSW	1	172,013,928 (GRCm39)	missense	possibly damaging	0.48
R2512:Dcaf8	UTSW	1	172,016,602 (GRCm39)	missense	possibly damaging	0.95
R4163:Dcaf8	UTSW	1	172,020,137 (GRCm39)	missense	probably damaging	1.00
R4546:Dcaf8	UTSW	1	172,007,460 (GRCm39)	splice site	probably benign
R4880:Dcaf8	UTSW	1	172,015,056 (GRCm39)	intron	probably benign
R5092:Dcaf8	UTSW	1	172,014,476 (GRCm39)	missense	probably benign	0.02
R5622:Dcaf8	UTSW	1	172,013,965 (GRCm39)	intron	probably benign
R5734:Dcaf8	UTSW	1	172,000,478 (GRCm39)	missense	possibly damaging	0.65
R6245:Dcaf8	UTSW	1	171,993,434 (GRCm39)	start codon destroyed	probably benign	0.01
R7090:Dcaf8	UTSW	1	172,016,535 (GRCm39)	missense	probably damaging	0.96
R8178:Dcaf8	UTSW	1	172,013,886 (GRCm39)	missense	probably benign	0.22
R8734:Dcaf8	UTSW	1	172,021,427 (GRCm39)	missense	probably benign	0.01
R8978:Dcaf8	UTSW	1	172,022,124 (GRCm39)	missense	probably benign	0.00
R8985:Dcaf8	UTSW	1	172,000,199 (GRCm39)	missense	probably benign
R9014:Dcaf8	UTSW	1	172,007,530 (GRCm39)	missense	possibly damaging	0.93
R9423:Dcaf8	UTSW	1	172,007,524 (GRCm39)	missense	probably damaging	1.00
R9500:Dcaf8	UTSW	1	171,999,909 (GRCm39)	missense	possibly damaging	0.63
Z1176:Dcaf8	UTSW	1	172,000,496 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- TGTTCAGGAAGTCTGTCCAGCAGC -3'
(R):5'- GGTATTGACACAACCAGTATGGCCC -3'

Sequencing Primer
(F):5'- AGACCTGAGTCTCAGCTTGAC -3'
(R):5'- CCAGTATGGCCCTCAAGC -3'

Posted On

2013-09-03