Mutagenetix > Incidental Mutation

Incidental Mutation 'R1160:Dcaf5'

100347

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

039233-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R1160 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

80382622-80483375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80386989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 379 (D379G)

Ref Sequence

ENSEMBL: ENSMUSP00000052755 (fasta)

Gene Model

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

AlphaFold

Q80T85

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054145
AA Change: D379G

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052755
Gene: ENSMUSG00000049106
AA Change: D379G

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

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	G	T	1: 89,770,876 (GRCm39)	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,115,917 (GRCm39)		probably null	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
Astn1	T	C	1: 158,427,935 (GRCm39)	V702A	possibly damaging	Het
Bach1	T	C	16: 87,512,322 (GRCm39)	V15A	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,377,218 (GRCm39)	V774M	probably benign	Het
Dcpp1	T	A	17: 24,100,405 (GRCm39)	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,425,288 (GRCm39)	S128C	probably damaging	Het
Eml3	A	G	19: 8,910,614 (GRCm39)	N192S	probably benign	Het
Epha3	T	G	16: 63,593,431 (GRCm39)	D219A	probably damaging	Het
Fhod3	C	T	18: 25,118,293 (GRCm39)	A210V	probably damaging	Het
Khdc4	C	A	3: 88,616,169 (GRCm39)	P452Q	probably damaging	Het
Klhl5	A	G	5: 65,298,683 (GRCm39)	N154S	probably benign	Het
Lrif1	A	G	3: 106,640,033 (GRCm39)	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,271,864 (GRCm39)	N664S	probably benign	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,636,138 (GRCm39)		probably null	Het
Pole	A	G	5: 110,443,119 (GRCm39)	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,274,868 (GRCm39)	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,855,547 (GRCm39)	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,088,505 (GRCm39)	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,511,775 (GRCm39)	D82E	probably benign	Het
Slc19a3	A	C	1: 83,000,413 (GRCm39)	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,013,995 (GRCm39)	A401T	possibly damaging	Het
Snupn	T	G	9: 56,864,389 (GRCm39)	C29W	probably benign	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sox17	A	T	1: 4,562,075 (GRCm39)	V310E	probably damaging	Het
Srgap1	T	A	10: 121,691,382 (GRCm39)	Y284F	probably benign	Het
Srpk1	C	A	17: 28,818,748 (GRCm39)	V363F	probably benign	Het
Syt13	T	A	2: 92,773,387 (GRCm39)		probably null	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tal1	A	T	4: 114,925,813 (GRCm39)	D294V	probably damaging	Het
Tbl2	A	G	5: 135,188,246 (GRCm39)	T347A	probably benign	Het
Tet3	A	G	6: 83,381,434 (GRCm39)	S110P	probably benign	Het
Tmem132a	A	G	19: 10,835,938 (GRCm39)	V864A	probably damaging	Het
Trak1	T	C	9: 121,221,073 (GRCm39)	I80T	probably benign	Het
Trappc6b	G	A	12: 59,097,064 (GRCm39)	T86I	probably damaging	Het
Usf3	T	A	16: 44,038,910 (GRCm39)	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,340,231 (GRCm39)	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,936 (GRCm39)	V685E	probably damaging	Het
Zp2	A	T	7: 119,735,268 (GRCm39)	D368E	probably 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
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
R2043:Dcaf5	UTSW	12	80,386,991 (GRCm39)	missense	probably benign	0.03
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

Posted On

2014-01-15