Mutagenetix > Incidental Mutation

Incidental Mutation 'R9418:Dcaf4'

712186

Institutional Source

Beutler Lab

Gene Symbol

Dcaf4

Ensembl Gene

ENSMUSG00000021222

Gene Name

DDB1 and CUL4 associated factor 4

Synonyms

Wdr21, 1110018E21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9418 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83567240-83588694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83586606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 422 (Y422F)

Ref Sequence

ENSEMBL: ENSMUSP00000152717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021645] [ENSMUST00000223291]

AlphaFold

A0A1Y7VNZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000021645
AA Change: Y409F

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021645
Gene: ENSMUSG00000021222
AA Change: Y409F

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC
Blast:WD40	274	313	2e-14	BLAST
WD40	361	399	8.36e-2	SMART
WD40	402	443	7.4e0	SMART
Blast:WD40	446	494	1e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000223291
AA Change: Y422F

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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

All alleles(39) : Gene trapped(39)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,645,317 (GRCm39)	G401R	probably damaging	Het
Adgrf5	G	A	17: 43,737,864 (GRCm39)	V233I	probably benign	Het
Ankrd34b	A	G	13: 92,575,232 (GRCm39)	K155E	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc141	A	T	2: 76,871,766 (GRCm39)	H839Q	probably benign	Het
Ccdc18	T	C	5: 108,303,669 (GRCm39)	L251P	probably damaging	Het
Ciita	G	T	16: 10,319,765 (GRCm39)	E63*	probably null	Het
Cmya5	T	C	13: 93,226,209 (GRCm39)	T2960A	probably benign	Het
Cyp2b13	A	T	7: 25,761,110 (GRCm39)	I56F	probably benign	Het
Dhrs7b	A	T	11: 60,746,594 (GRCm39)	I228F	probably damaging	Het
Drosha	T	C	15: 12,885,167 (GRCm39)	S853P	probably benign	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Fap	G	A	2: 62,385,181 (GRCm39)	Q65*	probably null	Het
Fbxo47	T	A	11: 97,747,067 (GRCm39)	N333I	possibly damaging	Het
Fem1al	C	T	11: 29,774,632 (GRCm39)	C275Y	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gpr171	T	C	3: 59,004,999 (GRCm39)	T259A	possibly damaging	Het
Hectd2	T	A	19: 36,589,574 (GRCm39)	S595T	probably benign	Het
Hexa	A	G	9: 59,464,592 (GRCm39)	I161V	probably benign	Het
Hira	A	G	16: 18,770,025 (GRCm39)	T777A	probably benign	Het
Il2ra	T	C	2: 11,689,203 (GRCm39)	F244S	possibly damaging	Het
Kcne3	A	G	7: 99,833,385 (GRCm39)	M1V	probably null	Het
Kcnj1	G	A	9: 32,308,203 (GRCm39)	C209Y	probably damaging	Het
Kcnj2	A	T	11: 110,963,357 (GRCm39)	I250F	probably damaging	Het
Krt26	C	T	11: 99,228,741 (GRCm39)		probably benign	Het
Leng9	T	C	7: 4,151,354 (GRCm39)	T441A	probably benign	Het
Lingo2	T	C	4: 35,709,035 (GRCm39)	H315R	probably benign	Het
Lrrc7	A	T	3: 157,908,023 (GRCm39)	S266T	possibly damaging	Het
Mab21l4	A	C	1: 93,087,710 (GRCm39)	L48V	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mrc1	T	C	2: 14,234,358 (GRCm39)	V12A	probably benign	Het
Mta1	G	T	12: 113,094,987 (GRCm39)	R415L	probably damaging	Het
Mug2	T	A	6: 122,017,700 (GRCm39)	V479E	probably benign	Het
Mylk3	C	A	8: 86,091,444 (GRCm39)	M120I	possibly damaging	Het
Or13c7c	C	T	4: 43,835,879 (GRCm39)	V204M	probably benign	Het
Or2v2	G	T	11: 49,004,484 (GRCm39)	P23Q	probably benign	Het
Otog	A	T	7: 45,938,024 (GRCm39)	Q1911L	probably benign	Het
Pcdh20	C	T	14: 88,705,455 (GRCm39)	C615Y	probably benign	Het
Pde1b	A	G	15: 103,433,464 (GRCm39)	H294R	probably damaging	Het
Phldb3	A	T	7: 24,328,354 (GRCm39)	I633F	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pip5k1b	A	G	19: 24,327,581 (GRCm39)	V425A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rab23	A	T	1: 33,777,424 (GRCm39)	E179D	probably benign	Het
Slc12a6	C	A	2: 112,174,555 (GRCm39)	L522I		Het
Slc22a19	A	T	19: 7,660,210 (GRCm39)	M400K	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spsb2	C	A	6: 124,786,282 (GRCm39)	A5D	probably damaging	Het
Tgfb1	A	G	7: 25,391,952 (GRCm39)	E169G	probably damaging	Het
Tm4sf5	T	A	11: 70,401,134 (GRCm39)	C117S	probably damaging	Het
Tmcc3	T	C	10: 94,415,087 (GRCm39)	L294P	possibly damaging	Het
Ubc	T	C	5: 125,464,466 (GRCm39)	Y287C	probably damaging	Het
Uroc1	G	T	6: 90,313,880 (GRCm39)	V56F	probably benign	Het
Ush1c	A	T	7: 45,872,292 (GRCm39)	F237I	probably damaging	Het
Xxylt1	A	T	16: 30,826,624 (GRCm39)	Y230*	probably null	Het
Zfp467	A	T	6: 48,415,990 (GRCm39)	C221S	probably damaging	Het

Other mutations in Dcaf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Dcaf4	APN	12	83,586,107 (GRCm39)	missense	probably damaging	1.00
IGL01401:Dcaf4	APN	12	83,588,148 (GRCm39)	missense	probably damaging	1.00
IGL02393:Dcaf4	APN	12	83,576,805 (GRCm39)	missense	probably damaging	1.00
IGL02970:Dcaf4	APN	12	83,575,989 (GRCm39)	missense	probably damaging	0.99
BB003:Dcaf4	UTSW	12	83,580,703 (GRCm39)	nonsense	probably null
BB013:Dcaf4	UTSW	12	83,580,703 (GRCm39)	nonsense	probably null
F5770:Dcaf4	UTSW	12	83,584,475 (GRCm39)	splice site	probably null
PIT4504001:Dcaf4	UTSW	12	83,580,785 (GRCm39)	critical splice donor site	probably null
R0032:Dcaf4	UTSW	12	83,582,762 (GRCm39)	splice site	probably benign
R0032:Dcaf4	UTSW	12	83,582,762 (GRCm39)	splice site	probably benign
R0164:Dcaf4	UTSW	12	83,582,762 (GRCm39)	splice site	probably benign
R0165:Dcaf4	UTSW	12	83,582,762 (GRCm39)	splice site	probably benign
R0167:Dcaf4	UTSW	12	83,582,762 (GRCm39)	splice site	probably benign
R0211:Dcaf4	UTSW	12	83,582,735 (GRCm39)	missense	probably damaging	1.00
R0211:Dcaf4	UTSW	12	83,582,735 (GRCm39)	missense	probably damaging	1.00
R0594:Dcaf4	UTSW	12	83,584,817 (GRCm39)	critical splice donor site	probably null
R1191:Dcaf4	UTSW	12	83,582,741 (GRCm39)	missense	probably damaging	1.00
R4499:Dcaf4	UTSW	12	83,586,134 (GRCm39)	missense	probably damaging	1.00
R4896:Dcaf4	UTSW	12	83,586,233 (GRCm39)	missense	possibly damaging	0.86
R4932:Dcaf4	UTSW	12	83,579,078 (GRCm39)	missense	possibly damaging	0.61
R5882:Dcaf4	UTSW	12	83,586,203 (GRCm39)	missense	probably damaging	0.96
R7084:Dcaf4	UTSW	12	83,584,571 (GRCm39)	frame shift	probably null
R7564:Dcaf4	UTSW	12	83,588,297 (GRCm39)	missense	probably damaging	0.97
R7777:Dcaf4	UTSW	12	83,584,733 (GRCm39)	missense	probably damaging	0.97
R7926:Dcaf4	UTSW	12	83,580,703 (GRCm39)	nonsense	probably null
R8290:Dcaf4	UTSW	12	83,588,333 (GRCm39)	missense	probably benign	0.32
R9486:Dcaf4	UTSW	12	83,582,726 (GRCm39)	missense	probably damaging	0.99
R9735:Dcaf4	UTSW	12	83,572,939 (GRCm39)	missense	probably benign
V7583:Dcaf4	UTSW	12	83,584,475 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAGGCTCACAAGTCAGAG -3'
(R):5'- CTGCCTGCCACTGATCTAATG -3'

Sequencing Primer
(F):5'- AAGTCAGAGGCATCCGTCTTC -3'
(R):5'- CCTGCCACTGATCTAATGATAGAGG -3'

Posted On

2022-05-16