Mutagenetix > Incidental Mutation

Incidental Mutation 'R2043:Dcaf5'

225224

Institutional Source

Beutler Lab

Gene Symbol

Dcaf5

Ensembl Gene

ENSMUSG00000049106

Gene Name

DDB1 and CUL4 associated factor 5

Synonyms

BCRP2, Wdr22, 9430020B07Rik, BCRG2

MMRRC Submission

040050-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R2043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80382622-80483375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80386991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 378 (D378E)

Ref Sequence

ENSEMBL: ENSMUSP00000052755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054145]

AlphaFold

Q80T85

Predicted Effect

probably benign
Transcript: ENSMUST00000054145
AA Change: D378E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000052755
Gene: ENSMUSG00000049106
AA Change: D378E

Domain	Start	End	E-Value	Type
WD40	42	82	3.32e-5	SMART
WD40	90	129	1.95e-2	SMART
WD40	132	171	1.28e-6	SMART
WD40	179	216	2.65e1	SMART
low complexity region	248	255	N/A	INTRINSIC
WD40	264	308	1.66e0	SMART
WD40	322	361	2.01e-4	SMART
low complexity region	431	441	N/A	INTRINSIC
low complexity region	506	518	N/A	INTRINSIC
low complexity region	548	573	N/A	INTRINSIC
low complexity region	623	638	N/A	INTRINSIC
low complexity region	793	807	N/A	INTRINSIC
low complexity region	929	941	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (47/49)

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	G	8: 25,486,669 (GRCm39)		probably null	Het
Adnp2	A	C	18: 80,171,541 (GRCm39)	M956R	probably damaging	Het
Aldh1l1	T	A	6: 90,534,314 (GRCm39)	D36E	probably benign	Het
Ankmy1	T	C	1: 92,804,249 (GRCm39)		probably benign	Het
Apaf1	T	C	10: 90,872,890 (GRCm39)	D718G	probably damaging	Het
Ascc3	C	T	10: 50,576,616 (GRCm39)	P857L	probably damaging	Het
Atp8b1	T	C	18: 64,738,271 (GRCm39)	K60R	possibly damaging	Het
Bub1	A	T	2: 127,646,140 (GRCm39)	C947S	probably damaging	Het
Cacna1c	C	T	6: 118,573,049 (GRCm39)	G2017D	probably benign	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc110	T	C	8: 46,395,864 (GRCm39)	M585T	probably benign	Het
Cep85l	A	T	10: 53,234,224 (GRCm39)	N51K	possibly damaging	Het
Cftr	T	C	6: 18,320,934 (GRCm39)	F1415L	probably benign	Het
Cln5	T	C	14: 103,313,380 (GRCm39)	S211P	probably damaging	Het
Dhx57	A	G	17: 80,560,509 (GRCm39)		probably benign	Het
Dsn1	G	A	2: 156,847,273 (GRCm39)	S55L	possibly damaging	Het
Eif5b	T	C	1: 38,080,900 (GRCm39)	F747S	probably damaging	Het
Entrep3	A	G	3: 89,092,874 (GRCm39)	Y251C	probably damaging	Het
Fbxo25	A	G	8: 13,971,905 (GRCm39)	I86V	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glcci1	T	A	6: 8,582,590 (GRCm39)	I130K	probably damaging	Het
Gm5424	A	G	10: 61,906,990 (GRCm39)		noncoding transcript	Het
Gsdma	G	A	11: 98,557,046 (GRCm39)	V54M	possibly damaging	Het
H3c3	A	G	13: 23,929,278 (GRCm39)	F68S	probably damaging	Het
Heatr3	T	A	8: 88,874,322 (GRCm39)		probably benign	Het
Hspa13	A	G	16: 75,555,156 (GRCm39)	L310S	probably benign	Het
Il6st	A	C	13: 112,616,753 (GRCm39)	Q100P	probably benign	Het
Ly6g6e	G	A	17: 35,296,840 (GRCm39)	R27Q	possibly damaging	Het
Mis18bp1	A	T	12: 65,196,192 (GRCm39)	I524K	probably damaging	Het
Myo18a	T	C	11: 77,714,189 (GRCm39)	I761T	probably damaging	Het
Mypop	T	C	7: 18,734,944 (GRCm39)		probably benign	Het
Or51ag1	A	G	7: 103,156,150 (GRCm39)	M1T	probably null	Het
Pcdh20	G	A	14: 88,704,591 (GRCm39)	T903I	probably benign	Het
Pdk4	A	T	6: 5,485,502 (GRCm39)	C396S	probably benign	Het
Piwil2	A	G	14: 70,628,919 (GRCm39)	V699A	probably benign	Het
Plekha5	T	C	6: 140,498,530 (GRCm39)		probably benign	Het
Ralgapa1	T	A	12: 55,723,811 (GRCm39)	I1572L	probably damaging	Het
Rasgrf2	T	A	13: 92,167,351 (GRCm39)	M241L	possibly damaging	Het
Ryr1	C	T	7: 28,759,056 (GRCm39)	R3374H	probably damaging	Het
Slc24a2	A	T	4: 86,914,882 (GRCm39)	M519K	probably damaging	Het
Smg9	T	A	7: 24,105,001 (GRCm39)	I67N	possibly damaging	Het
Spart	G	A	3: 55,034,969 (GRCm39)	A452T	probably damaging	Het
Ush2a	T	A	1: 188,648,453 (GRCm39)	F4686Y	probably benign	Het
Zfp146	T	C	7: 29,861,664 (GRCm39)	K126R	possibly damaging	Het
Zfp386	T	A	12: 116,022,781 (GRCm39)	D131E	probably benign	Het
Zfp423	T	C	8: 88,509,246 (GRCm39)	D366G	probably damaging	Het
Zfp729a	T	C	13: 67,769,291 (GRCm39)	K313E	probably damaging	Het
Zfp955a	G	A	17: 33,461,527 (GRCm39)	H202Y	possibly damaging	Het

Other mutations in Dcaf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Dcaf5	APN	12	80,386,097 (GRCm39)	missense	probably benign	0.01
IGL00990:Dcaf5	APN	12	80,385,606 (GRCm39)	missense	probably benign
IGL01788:Dcaf5	APN	12	80,395,098 (GRCm39)	missense	probably damaging	1.00
IGL01865:Dcaf5	APN	12	80,386,088 (GRCm39)	missense	probably benign	0.36
IGL02365:Dcaf5	APN	12	80,445,547 (GRCm39)	missense	probably benign	0.01
R1160:Dcaf5	UTSW	12	80,386,989 (GRCm39)	missense	possibly damaging	0.83
R1443:Dcaf5	UTSW	12	80,410,843 (GRCm39)	missense	probably damaging	1.00
R1804:Dcaf5	UTSW	12	80,386,603 (GRCm39)	missense	probably benign	0.19
R1945:Dcaf5	UTSW	12	80,385,468 (GRCm39)	missense	probably benign	0.12
R2104:Dcaf5	UTSW	12	80,385,635 (GRCm39)	missense	probably benign	0.00
R4831:Dcaf5	UTSW	12	80,385,858 (GRCm39)	missense	probably benign	0.00
R4860:Dcaf5	UTSW	12	80,387,006 (GRCm39)	missense	probably benign	0.06
R4860:Dcaf5	UTSW	12	80,387,006 (GRCm39)	missense	probably benign	0.06
R5257:Dcaf5	UTSW	12	80,444,493 (GRCm39)	missense	probably damaging	1.00
R5263:Dcaf5	UTSW	12	80,395,120 (GRCm39)	missense	probably damaging	1.00
R5569:Dcaf5	UTSW	12	80,386,975 (GRCm39)	missense	probably damaging	1.00
R5597:Dcaf5	UTSW	12	80,386,817 (GRCm39)	missense	probably damaging	0.99
R5632:Dcaf5	UTSW	12	80,444,526 (GRCm39)	missense	probably damaging	0.98
R5779:Dcaf5	UTSW	12	80,385,606 (GRCm39)	missense	probably benign
R5833:Dcaf5	UTSW	12	80,395,203 (GRCm39)	missense	probably damaging	0.98
R6794:Dcaf5	UTSW	12	80,445,667 (GRCm39)	missense	possibly damaging	0.66
R7188:Dcaf5	UTSW	12	80,446,732 (GRCm39)	missense	probably damaging	1.00
R7238:Dcaf5	UTSW	12	80,385,483 (GRCm39)	missense	probably benign	0.27
R7286:Dcaf5	UTSW	12	80,395,164 (GRCm39)	missense	probably damaging	1.00
R7524:Dcaf5	UTSW	12	80,423,470 (GRCm39)	missense	probably benign	0.09
R8679:Dcaf5	UTSW	12	80,385,807 (GRCm39)	missense	probably benign	0.00
R9248:Dcaf5	UTSW	12	80,386,563 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AGGATAGTGCTCTCGCTGAG -3'
(R):5'- ACAAGAGTGCCATTGTACCGTAAG -3'

Sequencing Primer
(F):5'- TCTCGCTGAGGTCGCTGTC -3'
(R):5'- CGTAAGGAAAATGGTTTTGAAGTTGC -3'

Posted On

2014-08-25