Mutagenetix > Incidental Mutations

Incidental Mutation 'R5277:Dcaf6'

403985

Institutional Source

Beutler Lab

Gene Symbol

Dcaf6

Ensembl Gene

ENSMUSG00000026571

Gene Name

DDB1 and CUL4 associated factor 6

Synonyms

PC326, 1200006M05Rik, Iqwd1

MMRRC Submission

042864-MU

Accession Numbers

Genbank: NM_028759; MGI: 1921356

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165328698-165460475 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165424346 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 70 (S70P)

Ref Sequence

ENSEMBL: ENSMUSP00000027856 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027856
AA Change: S70P

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: S70P

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: ENSMUST00000195686

Meta Mutation Damage Score

0.8674

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,994,648	T54A	probably damaging	Het
Ablim1	T	C	19: 57,155,261	R89G	probably damaging	Het
Bco1	T	A	8: 117,117,389		probably null	Het
Bhmt	A	T	13: 93,624,885	M185K	possibly damaging	Het
Camk2d	T	C	3: 126,684,741		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Dclre1a	C	T	19: 56,544,732	V477I	possibly damaging	Het
Dnah10	C	T	5: 124,828,137	P4021L	probably damaging	Het
Dusp10	A	G	1: 184,037,007	N57D	possibly damaging	Het
Fam13b	G	A	18: 34,462,190	R374C	probably benign	Het
Fyb2	G	A	4: 105,015,679	D686N	probably damaging	Het
Glra3	G	A	8: 55,991,207	M67I	possibly damaging	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm6180	A	G	8: 42,247,140		noncoding transcript	Het
Grin2c	A	G	11: 115,253,813	V629A	probably damaging	Het
Kif4-ps	A	T	12: 101,145,927		noncoding transcript	Het
Mc3r	T	C	2: 172,249,787	F310L	probably damaging	Het
Myh4	A	G	11: 67,252,354	D1036G	probably damaging	Het
Myh6	A	G	14: 54,956,562	I790T	probably benign	Het
Myo15	C	A	11: 60,477,114	Y233*	probably null	Het
Nckap5	A	T	1: 126,026,540	C758*	probably null	Het
Neurog3	T	A	10: 62,133,853	Y36N	probably damaging	Het
Nlrp4e	T	C	7: 23,321,438	L450P	probably benign	Het
Olfr607	A	T	7: 103,460,941	L84H	probably damaging	Het
Otog	A	G	7: 46,246,621	E170G	possibly damaging	Het
Ppp2r2b	G	T	18: 42,741,142	T41K	probably damaging	Het
Prmt5	A	T	14: 54,509,942	D459E	probably benign	Het
Ric8b	G	A	10: 84,947,652	V125M	probably damaging	Het
Rptor	A	G	11: 119,822,956	S4G	probably damaging	Het
Rslcan18	T	G	13: 67,098,434	E371D	probably benign	Het
Scaf11	A	T	15: 96,419,226	F819Y	probably damaging	Het
Sema6a	A	T	18: 47,276,544		probably benign	Het
Snx29	C	T	16: 11,399,824	T163I	possibly damaging	Het
Sphkap	T	C	1: 83,276,164	N1288S	probably benign	Het
Tmbim7	G	A	5: 3,673,192		probably null	Het
Tmem63c	T	A	12: 87,057,757		probably null	Het
Tmem69	A	G	4: 116,553,261	F171L	probably benign	Het
Urod	A	T	4: 116,990,285		probably benign	Het
Vmn1r37	A	T	6: 66,731,476	I29L	probably benign	Het
Vmn2r102	A	G	17: 19,694,131	T653A	possibly damaging	Het
Vmn2r75	A	C	7: 86,166,292	S121R	probably benign	Het
Vwde	T	C	6: 13,186,996	T831A	probably benign	Het
Wdr70	C	T	15: 7,976,984	W362*	probably null	Het
Zfat	A	G	15: 68,165,909	C906R	probably damaging	Het
Zfp7	T	C	15: 76,881,203	V32A	probably damaging	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
IGL03119:Dcaf6	APN	1	165339976	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
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

Predicted Primers

PCR Primer
(F):5'- AAGGAAACTGTGGTACCTACATGTG -3'
(R):5'- TGAGAACTGAAGTCTGGTTTCAAC -3'

Sequencing Primer
(F):5'- CTGTGGTACCTACATGTGACAATGTC -3'
(R):5'- AGTGAAAGACGGCTTACT -3'

Posted On

2016-07-22