Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00094:Dcaf5'

1067

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcaf5

Ensembl Gene

ENSMUSG00000049106

Gene Name

DDB1 and CUL4 associated factor 5

Synonyms

BCRP2, Wdr22, 9430020B07Rik, BCRG2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

IGL00094

Quality Score

Status

Chromosome

Chromosomal Location

80382622-80483375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80386097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 676 (N676K)

Ref Sequence

ENSEMBL: ENSMUSP00000052755 (fasta)

Gene Model

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

AlphaFold

Q80T85

Predicted Effect

probably benign
Transcript: ENSMUST00000054145
AA Change: N676K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052755
Gene: ENSMUSG00000049106
AA Change: N676K

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

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,591,254 (GRCm39)	N547K	probably benign	Het
Abca13	A	G	11: 9,247,443 (GRCm39)	T2397A	probably benign	Het
Abcc1	A	G	16: 14,288,398 (GRCm39)	N1341S	probably null	Het
Adcy9	T	A	16: 4,122,446 (GRCm39)	I535L	probably benign	Het
Akap6	A	G	12: 53,187,763 (GRCm39)	S1726G	possibly damaging	Het
Ap3d1	T	C	10: 80,577,813 (GRCm39)	M5V	probably benign	Het
Ash1l	T	A	3: 88,889,019 (GRCm39)	N299K	probably benign	Het
B3gnt2	C	T	11: 22,786,151 (GRCm39)	V346I	probably benign	Het
Ceacam14	G	A	7: 17,548,062 (GRCm39)	V51I	probably damaging	Het
Cfap69	T	C	5: 5,634,682 (GRCm39)	D812G	probably damaging	Het
Cfap97d1	A	G	11: 101,881,646 (GRCm39)	E114G	possibly damaging	Het
Chrna9	T	C	5: 66,126,600 (GRCm39)	V118A	probably benign	Het
Cpsf7	A	G	19: 10,517,151 (GRCm39)	R418G	probably damaging	Het
Csnk1g3	T	C	18: 54,052,075 (GRCm39)	Y215H	probably damaging	Het
Dld	A	T	12: 31,385,576 (GRCm39)	M255K	probably benign	Het
Esr2	A	T	12: 76,180,670 (GRCm39)	L417H	probably damaging	Het
Fsip2	T	A	2: 82,820,730 (GRCm39)	S5488T	probably benign	Het
Gatb	A	T	3: 85,509,227 (GRCm39)	I130L	possibly damaging	Het
Gbp9	T	C	5: 105,229,130 (GRCm39)	K506E	probably benign	Het
Hkdc1	T	C	10: 62,229,568 (GRCm39)	N703S	probably damaging	Het
Itgb3	T	A	11: 104,524,410 (GRCm39)	V182E	probably damaging	Het
Itih4	A	T	14: 30,617,426 (GRCm39)	Y582F	probably damaging	Het
Lancl2	T	A	6: 57,701,522 (GRCm39)		probably benign	Het
Lgals3	A	G	14: 47,622,175 (GRCm39)	K197R	probably benign	Het
Lipe	T	C	7: 25,082,977 (GRCm39)	T767A	probably damaging	Het
Lrp2	T	A	2: 69,338,123 (GRCm39)	D1219V	probably damaging	Het
Lrriq3	T	A	3: 154,806,698 (GRCm39)	C116S	probably benign	Het
Mcm5	T	G	8: 75,851,573 (GRCm39)		probably null	Het
Mtpn	G	T	6: 35,499,711 (GRCm39)	T31K	probably damaging	Het
Mycbp2	A	T	14: 103,460,486 (GRCm39)	Y1494N	probably damaging	Het
Nbeal1	G	T	1: 60,274,350 (GRCm39)	E498*	probably null	Het
Nos1	T	G	5: 118,048,165 (GRCm39)	S657A	probably damaging	Het
Nr3c1	A	T	18: 39,561,661 (GRCm39)		probably null	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or13a17	A	T	7: 140,271,349 (GRCm39)	H177L	probably damaging	Het
Or4c127	T	A	2: 89,833,365 (GRCm39)	I205N	possibly damaging	Het
Or7g32	T	A	9: 19,408,155 (GRCm39)	I37N	probably damaging	Het
Or8g20	T	C	9: 39,395,944 (GRCm39)	I202V	probably benign	Het
Or8s8	T	G	15: 98,354,299 (GRCm39)	V36G	possibly damaging	Het
Or9i1	A	T	19: 13,839,150 (GRCm39)		probably benign	Het
Osbp2	T	G	11: 3,661,848 (GRCm39)	S735R	probably benign	Het
Otop3	A	T	11: 115,235,279 (GRCm39)	T304S	probably benign	Het
Pcdhac2	A	T	18: 37,278,128 (GRCm39)	L369F	probably damaging	Het
Pick1	T	C	15: 79,131,457 (GRCm39)		probably benign	Het
Prlhr	A	T	19: 60,456,119 (GRCm39)	V149E	probably damaging	Het
Prss12	G	A	3: 123,280,598 (GRCm39)		probably benign	Het
Rab19	A	T	6: 39,365,132 (GRCm39)		probably benign	Het
Ralgapb	T	C	2: 158,262,776 (GRCm39)	W5R	probably damaging	Het
Rfx4	T	A	10: 84,676,063 (GRCm39)	L44Q	probably damaging	Het
Scube2	T	C	7: 109,407,661 (GRCm39)	T760A	probably damaging	Het
Shcbp1	A	C	8: 4,804,258 (GRCm39)	Y145*	probably null	Het
Snx31	T	A	15: 36,545,761 (GRCm39)		probably null	Het
Spopl	A	T	2: 23,427,643 (GRCm39)	V163E	possibly damaging	Het
Sqor	T	C	2: 122,629,463 (GRCm39)	I107T	probably damaging	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Tnfrsf11b	T	A	15: 54,123,238 (GRCm39)	H121L	probably damaging	Het
Tnip1	G	T	11: 54,831,643 (GRCm39)	Y10*	probably null	Het
Tnxb	G	T	17: 34,904,603 (GRCm39)	G1123C	probably damaging	Het
Wdr62	T	C	7: 29,942,948 (GRCm39)	E515G	probably benign	Het
Zfand1	A	T	3: 10,413,590 (GRCm39)	D32E	probably null	Het
Zfp112	A	C	7: 23,821,668 (GRCm39)	T3P	probably damaging	Het

Other mutations in Dcaf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-07-12