Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01081:Dcaf13'

52777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcaf13

Ensembl Gene

ENSMUSG00000022300

Gene Name

DDB1 and CUL4 associated factor 13

Synonyms

LOC223499, Wdsof1

Accession Numbers

Genbank: NM_198606; MGI: 2684929

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL01081

Quality Score

Status

Chromosome

Chromosomal Location

39112865-39146856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39118806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 56 (K56E)

Ref Sequence

ENSEMBL: ENSMUSP00000022909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022909]

AlphaFold

Q6PAC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022909
AA Change: K56E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022909
Gene: ENSMUSG00000022300
AA Change: K56E

Domain	Start	End	E-Value	Type
WD40	55	95	5.77e-5	SMART
WD40	98	137	4.38e-5	SMART
WD40	185	225	5.97e-1	SMART
Blast:WD40	228	267	1e-18	BLAST
WD40	271	310	2.69e-5	SMART
WD40	312	353	2.96e-2	SMART
Pfam:Sof1	354	440	7.2e-38	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(9) : Targeted, other(2) Gene trapped(7)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,990,594	L158P	probably damaging	Het
Aco1	A	G	4: 40,197,576	Q860R	probably benign	Het
Actl11	A	T	9: 107,928,982	Q168L	possibly damaging	Het
Adam26b	T	C	8: 43,519,938	I676V	probably benign	Het
Aldoart2	A	C	12: 55,566,135	I282L	probably benign	Het
Capns1	G	T	7: 30,190,140	S211R	probably benign	Het
Cps1	T	C	1: 67,206,824	V1158A	probably damaging	Het
Cryl1	C	T	14: 57,286,364		probably null	Het
Cxcr5	A	G	9: 44,514,310		probably benign	Het
Dlx6	T	G	6: 6,867,068	S85A	probably damaging	Het
Dsg2	C	T	18: 20,589,942		probably benign	Het
Dync1li1	T	A	9: 114,720,597	S412T	possibly damaging	Het
Ebf3	C	A	7: 137,225,896		probably benign	Het
Fads3	T	C	19: 10,053,002	I168T	probably benign	Het
Gm10295	G	A	7: 71,350,548	P95S	unknown	Het
Gm43638	T	C	5: 87,486,596	T51A	probably damaging	Het
Gm5114	G	A	7: 39,410,647		probably benign	Het
Gucy2c	G	A	6: 136,702,739	T974M	probably damaging	Het
Ighv1-19-1	T	C	12: 114,708,638		probably benign	Het
Kri1	A	T	9: 21,280,427	L173Q	probably damaging	Het
Lztfl1	T	C	9: 123,702,273	D210G	probably benign	Het
Morc2a	T	A	11: 3,688,149	N958K	probably damaging	Het
Msl3l2	G	A	10: 56,115,925	A249T	probably benign	Het
Nlrp4a	A	G	7: 26,449,829	E287G	probably benign	Het
Nlrp9a	A	T	7: 26,558,094	N290I	possibly damaging	Het
Olfr1040	C	T	2: 86,146,611	G41D	probably benign	Het
Olfr1367	T	G	13: 21,347,015	L29R	probably damaging	Het
Olfr1509	A	G	14: 52,451,027	T205A	probably benign	Het
Pcsk7	A	G	9: 45,928,707	D731G	probably benign	Het
Plppr5	T	A	3: 117,686,649		probably benign	Het
Podxl	T	C	6: 31,528,704	T135A	possibly damaging	Het
Pole	T	G	5: 110,337,240	C407G	possibly damaging	Het
Prl	C	A	13: 27,065,041	N224K	possibly damaging	Het
Prnp	A	T	2: 131,936,420		probably benign	Het
Proser2	A	G	2: 6,100,338	*472R	probably null	Het
Rhag	T	C	17: 40,811,287	S38P	possibly damaging	Het
Rnf146	T	C	10: 29,347,860	D10G	probably damaging	Het
Rps3a1	T	C	3: 86,141,778	D29G	probably benign	Het
Sv2a	A	T	3: 96,189,696	I446F	probably benign	Het
Tbc1d30	C	A	10: 121,267,414	R571L	probably damaging	Het
Tfrc	T	A	16: 32,624,828		probably null	Het
Tnfaip1	G	A	11: 78,528,303	P156S	probably damaging	Het
Vmn1r226	T	C	17: 20,687,904	S133P	probably damaging	Het
Wnt9b	C	T	11: 103,732,010	R189K	probably damaging	Het
Ythdc2	A	G	18: 44,850,659	H564R	probably benign	Het
Zfp442	C	A	2: 150,409,347	E211*	probably null	Het

Other mutations in Dcaf13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Dcaf13	APN	15	39143632	nonsense	probably null
IGL01766:Dcaf13	APN	15	39118750	missense	probably benign	0.00
IGL02174:Dcaf13	APN	15	39138149	missense	probably damaging	1.00
IGL02262:Dcaf13	APN	15	39118707	splice site	probably benign
IGL02740:Dcaf13	APN	15	39145100	nonsense	probably null
IGL03092:Dcaf13	APN	15	39127976	splice site	probably benign
IGL03374:Dcaf13	APN	15	39145148	nonsense	probably null
R0590:Dcaf13	UTSW	15	39145085	splice site	probably benign
R0594:Dcaf13	UTSW	15	39123268	missense	probably benign	0.00
R0711:Dcaf13	UTSW	15	39138089	missense	probably damaging	1.00
R1036:Dcaf13	UTSW	15	39143718	missense	probably damaging	1.00
R1770:Dcaf13	UTSW	15	39130238	missense	probably damaging	1.00
R1826:Dcaf13	UTSW	15	39118899	missense	probably damaging	1.00
R1933:Dcaf13	UTSW	15	39138088	missense	probably damaging	0.99
R2508:Dcaf13	UTSW	15	39145152	missense	probably benign
R4113:Dcaf13	UTSW	15	39130220	missense	probably damaging	0.98
R4595:Dcaf13	UTSW	15	39118893	missense	probably damaging	1.00
R4649:Dcaf13	UTSW	15	39138242	missense	possibly damaging	0.54
R5431:Dcaf13	UTSW	15	39123224	missense	probably benign	0.16
R5454:Dcaf13	UTSW	15	39124364	missense	probably benign
R5834:Dcaf13	UTSW	15	39143642	nonsense	probably null
R5929:Dcaf13	UTSW	15	39143653	missense	possibly damaging	0.89
R5944:Dcaf13	UTSW	15	39146677	missense	probably benign
R6319:Dcaf13	UTSW	15	39143672	missense	probably benign	0.00
R6394:Dcaf13	UTSW	15	39143737	missense	probably benign	0.04
R6664:Dcaf13	UTSW	15	39118888	missense	probably damaging	1.00
R6884:Dcaf13	UTSW	15	39123240	missense	probably damaging	1.00
R7419:Dcaf13	UTSW	15	39130220	missense	probably damaging	0.98
R8750:Dcaf13	UTSW	15	39119441	missense	probably damaging	1.00
R8944:Dcaf13	UTSW	15	39138217	missense	possibly damaging	0.79
R9294:Dcaf13	UTSW	15	39130292	missense	possibly damaging	0.92
R9300:Dcaf13	UTSW	15	39146707	missense	probably damaging	1.00
R9663:Dcaf13	UTSW	15	39118783	missense	possibly damaging	0.88
R9696:Dcaf13	UTSW	15	39138101	missense	possibly damaging	0.80
R9778:Dcaf13	UTSW	15	39145191	missense	probably damaging	0.99
Z1088:Dcaf13	UTSW	15	39145247	missense	probably damaging	1.00

Posted On

2013-06-21