Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03119:Dcaf6'

409917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcaf6

Ensembl Gene

ENSMUSG00000026571

Gene Name

DDB1 and CUL4 associated factor 6

Synonyms

PC326, 1200006M05Rik, Iqwd1

Accession Numbers

Genbank: NM_028759; MGI: 1921356

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

165328698-165460475 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 165339976 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 708 (E708G)

Ref Sequence

ENSEMBL: ENSMUSP00000027856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027856]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027856
AA Change: E708G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: E708G

Domain	Start	End	E-Value	Type
WD40	40	79	5.77e-5	SMART
WD40	82	124	1.2e-2	SMART
WD40	130	170	2.15e-1	SMART
WD40	184	220	3.33e-1	SMART
WD40	238	281	6.66e-1	SMART
low complexity region	364	374	N/A	INTRINSIC
low complexity region	499	510	N/A	INTRINSIC
low complexity region	669	676	N/A	INTRINSIC
IQ	691	713	1.25e1	SMART
WD40	722	763	3.84e0	SMART
WD40	766	805	1.22e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193353

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,714,887	T626A	probably benign	Het
Adcy1	C	T	11: 7,109,051	T319I	probably damaging	Het
Adgrv1	A	G	13: 81,382,373	S5861P	probably damaging	Het
Adgrv1	A	C	13: 81,433,700	C4742G	probably benign	Het
Arid5b	A	T	10: 68,243,227	D93E	probably damaging	Het
Atp6v1h	A	G	1: 5,095,669	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734	L807F	probably damaging	Het
Cep104	A	C	4: 153,981,724	K126N	probably damaging	Het
Dst	A	G	1: 34,161,062	Y107C	probably damaging	Het
E2f3	A	G	13: 29,985,365	S102P	probably benign	Het
Eif3e	A	C	15: 43,265,604	S207A	probably benign	Het
Etl4	A	G	2: 20,713,387	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,900,695	V121A	probably benign	Het
Gstk1	T	C	6: 42,249,899	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,212,334	F244L	probably null	Het
Ints7	T	C	1: 191,610,365	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,509	E71*	probably null	Het
Ltbp3	A	T	19: 5,757,443	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Naa25	T	A	5: 121,434,978	V720E	probably null	Het
Olfr1480	T	C	19: 13,530,435	I298T	probably benign	Het
Olfr599	A	G	7: 103,338,722	I223V	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Peli1	T	C	11: 21,140,560		probably benign	Het
Ptbp1	T	C	10: 79,859,624	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,452,003	Y31C	probably damaging	Het
Smg1	G	A	7: 118,195,113		probably benign	Het
Stat2	A	G	10: 128,283,517	M457V	probably benign	Het
Trpm6	G	T	19: 18,838,017	E1156*	probably null	Het
Usp53	T	A	3: 122,961,415	R130S	possibly damaging	Het
Vwa5b1	A	G	4: 138,606,541	S193P	probably benign	Het
Xrn2	A	G	2: 147,042,872	I626V	probably damaging	Het
Zfp574	G	A	7: 25,080,473	A307T	probably benign	Het

Other mutations in Dcaf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00828:Dcaf6	APN	1	165338347	splice site	probably benign
IGL01377:Dcaf6	APN	1	165388724	missense	probably benign	0.01
IGL02027:Dcaf6	APN	1	165424341	missense	probably damaging	1.00
IGL02390:Dcaf6	APN	1	165422921	missense	possibly damaging	0.50
IGL02754:Dcaf6	APN	1	165338346	critical splice acceptor site	probably null
IGL02900:Dcaf6	APN	1	165399775	missense	probably damaging	1.00
IGL03211:Dcaf6	APN	1	165422933	missense	possibly damaging	0.55
R0588:Dcaf6	UTSW	1	165420223	missense	possibly damaging	0.89
R1494:Dcaf6	UTSW	1	165333373	missense	probably damaging	0.99
R1512:Dcaf6	UTSW	1	165352020	missense	probably benign	0.22
R1840:Dcaf6	UTSW	1	165399748	missense	probably damaging	0.96
R2191:Dcaf6	UTSW	1	165422864	missense	probably benign	0.07
R2297:Dcaf6	UTSW	1	165399862	missense	probably damaging	1.00
R3082:Dcaf6	UTSW	1	165422852	splice site	probably benign
R3861:Dcaf6	UTSW	1	165429269	missense	probably damaging	1.00
R3907:Dcaf6	UTSW	1	165424380	nonsense	probably null
R4521:Dcaf6	UTSW	1	165390490	missense	probably damaging	0.98
R4531:Dcaf6	UTSW	1	165411467	missense	probably damaging	1.00
R4906:Dcaf6	UTSW	1	165411463	critical splice donor site	probably null
R4916:Dcaf6	UTSW	1	165420205	missense	probably damaging	1.00
R4956:Dcaf6	UTSW	1	165388785	missense	probably benign	0.00
R5080:Dcaf6	UTSW	1	165420121	missense	probably damaging	1.00
R5091:Dcaf6	UTSW	1	165330003	missense	possibly damaging	0.76
R5277:Dcaf6	UTSW	1	165424346	missense	probably benign	0.09
R5512:Dcaf6	UTSW	1	165399835	missense	possibly damaging	0.84
R5914:Dcaf6	UTSW	1	165351155	missense	probably benign
R6004:Dcaf6	UTSW	1	165388685	missense	probably benign	0.00
R6239:Dcaf6	UTSW	1	165351270	missense	possibly damaging	0.47
R6736:Dcaf6	UTSW	1	165399785	missense	possibly damaging	0.77
R7051:Dcaf6	UTSW	1	165424317	missense	possibly damaging	0.82
R7110:Dcaf6	UTSW	1	165351968	missense	probably benign	0.22
R7583:Dcaf6	UTSW	1	165333310	missense	probably damaging	1.00
R7776:Dcaf6	UTSW	1	165352054	nonsense	probably null
R7790:Dcaf6	UTSW	1	165399715	missense	probably damaging	1.00
R8369:Dcaf6	UTSW	1	165357474	missense	probably damaging	1.00

Posted On

2016-08-02