Mutagenetix > Incidental Mutation

Incidental Mutation 'R8985:Dcaf8'

683937

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

068818-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.840) question?

Stock #

R8985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171975574-172023960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 172000199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 119 (R119H)

Ref Sequence

ENSEMBL: ENSMUSP00000073778 (fasta)

Gene Model

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

AlphaFold

Q8N7N5

Predicted Effect

probably benign
Transcript: ENSMUST00000074144
AA Change: R119H

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

SMART Domains

Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554
AA Change: R119H

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: R119H

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

SMART Domains

Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554
AA Change: R119H

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: ENSMUST00000192704
AA Change: R119H

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

SMART Domains

Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554
AA Change: R119H

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: R119H

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

SMART Domains

Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554
AA Change: R119H

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

probably benign
Transcript: ENSMUST00000195345

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,141,860 (GRCm39)		probably benign	Het
Agbl1	C	A	7: 75,969,904 (GRCm39)	S53R		Het
Ahr	T	C	12: 35,576,736 (GRCm39)	K65R	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankrd52	T	C	10: 128,222,978 (GRCm39)	S643P	probably damaging	Het
Asz1	T	C	6: 18,051,336 (GRCm39)	T448A	probably benign	Het
Atp10a	A	G	7: 58,438,092 (GRCm39)	I425V	probably benign	Het
Casd1	T	A	6: 4,624,399 (GRCm39)	Y397*	probably null	Het
Ccdc162	A	G	10: 41,432,102 (GRCm39)	I1797T	probably damaging	Het
Cdc20b	A	T	13: 113,196,330 (GRCm39)	R152*	probably null	Het
Cdc25b	T	C	2: 131,035,180 (GRCm39)	C313R	probably damaging	Het
Cfap73	T	A	5: 120,768,123 (GRCm39)	T212S	probably benign	Het
Chd9	G	T	8: 91,721,101 (GRCm39)	R963L	unknown	Het
Clip4	G	T	17: 72,113,527 (GRCm39)	V226F	probably damaging	Het
Cmya5	A	G	13: 93,233,664 (GRCm39)	S475P	possibly damaging	Het
Cntn5	A	G	9: 10,171,960 (GRCm39)	Y75H	possibly damaging	Het
Crtc1	T	G	8: 70,855,092 (GRCm39)	H176P	probably damaging	Het
Cspg5	T	C	9: 110,085,502 (GRCm39)	W558R	unknown	Het
Cyp2c39	A	G	19: 39,552,419 (GRCm39)	T371A	probably benign	Het
Drosha	G	T	15: 12,924,187 (GRCm39)	A1190S	possibly damaging	Het
Dst	T	C	1: 34,288,886 (GRCm39)	V5655A	probably benign	Het
Etnk1	C	G	6: 143,140,953 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,440,499 (GRCm39)	V269D	probably benign	Het
Foxs1	T	A	2: 152,775,058 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,141,595 (GRCm39)	Y551C	possibly damaging	Het
Fzd6	A	T	15: 38,895,019 (GRCm39)	H395L	probably damaging	Het
Grm6	C	T	11: 50,746,537 (GRCm39)	A289V	possibly damaging	Het
Hook1	A	G	4: 95,910,468 (GRCm39)	D694G	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igha	T	C	12: 113,222,611 (GRCm39)	E270G		Het
Itga2b	C	A	11: 102,356,288 (GRCm39)		probably benign	Het
Jade1	A	C	3: 41,568,148 (GRCm39)	S739R	probably benign	Het
Lpin3	T	C	2: 160,738,674 (GRCm39)	S209P	probably benign	Het
Ly6i	A	C	15: 74,851,806 (GRCm39)	L121R	probably damaging	Het
Ms4a1	C	T	19: 11,232,055 (GRCm39)	V107I	probably benign	Het
Mycbpap	T	A	11: 94,404,722 (GRCm39)	T74S	probably benign	Het
Nlrp14	A	G	7: 106,796,436 (GRCm39)	N921D	probably benign	Het
Nmur1	C	T	1: 86,314,103 (GRCm39)	E388K	probably benign	Het
Nol4	T	C	18: 23,085,294 (GRCm39)	Y40C	probably damaging	Het
Or1e1c	T	C	11: 73,266,252 (GRCm39)	S229P	possibly damaging	Het
Or51k1	A	T	7: 103,661,367 (GRCm39)	C181S	probably damaging	Het
Or8b51	A	T	9: 38,569,621 (GRCm39)	Y22*	probably null	Het
Pawr	G	A	10: 108,247,861 (GRCm39)	V283M	possibly damaging	Het
Pde6b	T	C	5: 108,578,503 (GRCm39)	Y814H	probably benign	Het
Pds5b	T	A	5: 150,724,239 (GRCm39)	L1272H	probably benign	Het
Pkd1l2	T	C	8: 117,764,849 (GRCm39)	T1350A	probably benign	Het
Plcz1	T	A	6: 139,961,903 (GRCm39)	Q216L	possibly damaging	Het
Prodh	A	T	16: 17,890,362 (GRCm39)	C522S	probably null	Het
Rasef	G	T	4: 73,708,960 (GRCm39)	P91Q	possibly damaging	Het
Rgs14	G	A	13: 55,531,234 (GRCm39)		probably benign	Het
Rnase6	A	T	14: 51,367,632 (GRCm39)	Y8F	unknown	Het
Rnf216	T	A	5: 143,076,180 (GRCm39)	T235S	probably benign	Het
Slco2a1	G	A	9: 102,949,834 (GRCm39)		probably null	Het
Smoc1	A	G	12: 81,226,261 (GRCm39)	E362G	probably damaging	Het
Sncaip	T	C	18: 53,002,169 (GRCm39)	L230P	probably benign	Het
Tdrd3	A	G	14: 87,743,597 (GRCm39)	E515G	possibly damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tmem9	T	A	1: 135,955,145 (GRCm39)	V93D	possibly damaging	Het
Tpm3-rs7	A	C	14: 113,552,756 (GRCm39)	I217L	probably benign	Het
Ttc41	A	T	10: 86,566,956 (GRCm39)	I541F	possibly damaging	Het
Uck2	T	C	1: 167,070,681 (GRCm39)	D16G	probably benign	Het
Vmn1r50	A	G	6: 90,085,017 (GRCm39)	D254G	probably benign	Het
Vmn2r50	A	C	7: 9,779,974 (GRCm39)	F469C	probably damaging	Het
Vmn2r57	A	G	7: 41,049,259 (GRCm39)	V830A	probably benign	Het
Wwc2	T	A	8: 48,331,919 (GRCm39)	R299S	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Xkr9	A	T	1: 13,770,990 (GRCm39)	M169L	probably benign	Het
Zbtb10	A	G	3: 9,345,807 (GRCm39)	D767G	probably damaging	Het
Zfp106	T	C	2: 120,366,077 (GRCm39)	Y65C		Het
Zfp536	A	G	7: 37,268,228 (GRCm39)	L396P	probably damaging	Het
Znhit1	C	A	5: 137,011,408 (GRCm39)	C135F	probably damaging	Het
Zscan5b	A	G	7: 6,241,834 (GRCm39)	E351G	probably damaging	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
R0729:Dcaf8	UTSW	1	172,000,221 (GRCm39)	missense	probably benign
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
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'- AGAGGCATCAGACCTGAGTC -3'
(R):5'- GCTGTACAAAGACTCTAGCTCC -3'

Sequencing Primer
(F):5'- GACCTGAGTCTCAGCTTGACTG -3'
(R):5'- TGTACAAAGACTCTAGCTCCACAAG -3'

Posted On

2021-10-11