Mutagenetix > Incidental Mutation

Incidental Mutation 'R9061:Dcaf6'

688957

Institutional Source

Beutler Lab

Gene Symbol

Dcaf6

Ensembl Gene

ENSMUSG00000026571

Gene Name

DDB1 and CUL4 associated factor 6

Synonyms

NRIP, Iqwd1, 1200006M05Rik, PC326

MMRRC Submission

068887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165157069-165288475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165164332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 814 (N814K)

Ref Sequence

ENSEMBL: ENSMUSP00000027856 (fasta)

Gene Model

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

AlphaFold

Q9DC22

Predicted Effect

probably damaging
Transcript: ENSMUST00000027856
AA Change: N814K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: N814K

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,133 (GRCm39)	M1T	probably null	Het
Abca13	A	G	11: 9,227,847 (GRCm39)	E630G	probably benign	Het
Abcf2	T	A	5: 24,778,504 (GRCm39)	H218L	possibly damaging	Het
Abo	A	T	2: 26,733,395 (GRCm39)	M268K	probably benign	Het
Ankrd33	G	T	15: 101,014,029 (GRCm39)		probably benign	Het
Apc	G	C	18: 34,446,251 (GRCm39)	R1049T	probably damaging	Het
Atg16l2	T	C	7: 100,941,338 (GRCm39)	K412E	probably damaging	Het
Cachd1	G	A	4: 100,809,202 (GRCm39)		probably null	Het
Ccdc152	T	G	15: 3,330,643 (GRCm39)	K11Q	probably damaging	Het
Ccdc38	T	A	10: 93,401,735 (GRCm39)	W232R	probably damaging	Het
Cluh	C	T	11: 74,551,192 (GRCm39)	P347L	possibly damaging	Het
Cntn3	A	G	6: 102,314,288 (GRCm39)	L142P	probably damaging	Het
Ctnnd2	T	A	15: 30,806,884 (GRCm39)	M601K	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,734 (GRCm39)	D209N	unknown	Het
Dhx8	A	T	11: 101,632,406 (GRCm39)	D455V	possibly damaging	Het
Fcna	A	C	2: 25,514,956 (GRCm39)	L301W	possibly damaging	Het
Garin1b	C	T	6: 29,323,902 (GRCm39)	T209I	probably benign	Het
Gdf9	T	G	11: 53,324,269 (GRCm39)	C13G	probably damaging	Het
Hells	T	A	19: 38,933,858 (GRCm39)	N226K	probably damaging	Het
Hes6	A	G	1: 91,340,061 (GRCm39)	S132P	probably damaging	Het
Ifi207	A	T	1: 173,564,153 (GRCm39)		probably benign	Het
Ighv16-1	A	T	12: 114,032,504 (GRCm39)	Y99*	probably null	Het
Kirrel2	T	C	7: 30,150,305 (GRCm39)	I508V	probably benign	Het
Klhl38	T	A	15: 58,186,022 (GRCm39)	I236F	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lamc1	A	T	1: 153,126,870 (GRCm39)	C425*	probably null	Het
Letm1	A	G	5: 33,918,213 (GRCm39)	F311L	probably damaging	Het
Lypd11	A	T	7: 24,422,173 (GRCm39)	I192N	possibly damaging	Het
Mapk8ip2	T	C	15: 89,342,016 (GRCm39)	V409A	possibly damaging	Het
Mybpc1	C	T	10: 88,391,501 (GRCm39)	C318Y	probably damaging	Het
Myo15a	A	G	11: 60,393,692 (GRCm39)	Y1141C		Het
Ndufv2	T	A	17: 66,390,475 (GRCm39)	D165V	probably damaging	Het
Nrde2	T	C	12: 100,110,123 (GRCm39)	K303E	probably benign	Het
Nup205	T	A	6: 35,196,808 (GRCm39)		probably benign	Het
Or1j12	A	G	2: 36,342,897 (GRCm39)	Q100R	probably damaging	Het
Or2f2	A	T	6: 42,767,141 (GRCm39)	H56L	probably damaging	Het
Or5b118	A	G	19: 13,448,523 (GRCm39)	N21S	probably damaging	Het
Otof	C	T	5: 30,546,001 (GRCm39)	V451I	possibly damaging	Het
Pask	G	A	1: 93,253,191 (GRCm39)	Q399*	probably null	Het
Pbk	T	A	14: 66,049,439 (GRCm39)	F39I	probably benign	Het
Pdzd2	T	C	15: 12,374,753 (GRCm39)	K1794R	possibly damaging	Het
Pibf1	T	C	14: 99,424,069 (GRCm39)		probably null	Het
Ppip5k2	G	A	1: 97,645,187 (GRCm39)	T1089I	probably damaging	Het
Ppp1cb	T	A	5: 32,635,492 (GRCm39)	F45L	possibly damaging	Het
Pramel21	T	G	4: 143,342,741 (GRCm39)	S283A	possibly damaging	Het
Samd4	T	C	14: 47,301,728 (GRCm39)	F344S	probably damaging	Het
Slc2a13	C	T	15: 91,234,333 (GRCm39)	M334I	possibly damaging	Het
Slc37a1	C	T	17: 31,556,365 (GRCm39)	A363V	probably damaging	Het
Slc8a3	T	A	12: 81,263,540 (GRCm39)	I616F	probably damaging	Het
Srcin1	A	G	11: 97,427,206 (GRCm39)	L257P	probably damaging	Het
Tarbp1	A	G	8: 127,173,880 (GRCm39)	F945L	probably damaging	Het
Thbs4	A	T	13: 92,911,187 (GRCm39)		probably null	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim62	G	A	4: 128,802,963 (GRCm39)	V338M	probably damaging	Het
Ttll9	C	T	2: 152,818,113 (GRCm39)	H20Y	possibly damaging	Het
Uevld	A	T	7: 46,587,806 (GRCm39)	I298N	probably damaging	Het
Zan	T	C	5: 137,462,653 (GRCm39)	E842G	probably damaging	Het
Zdbf2	T	G	1: 63,346,296 (GRCm39)	S1558R		Het

Other mutations in Dcaf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00828:Dcaf6	APN	1	165,165,916 (GRCm39)	splice site	probably benign
IGL01377:Dcaf6	APN	1	165,216,293 (GRCm39)	missense	probably benign	0.01
IGL02027:Dcaf6	APN	1	165,251,910 (GRCm39)	missense	probably damaging	1.00
IGL02390:Dcaf6	APN	1	165,250,490 (GRCm39)	missense	possibly damaging	0.50
IGL02754:Dcaf6	APN	1	165,165,915 (GRCm39)	critical splice acceptor site	probably null
IGL02900:Dcaf6	APN	1	165,227,344 (GRCm39)	missense	probably damaging	1.00
IGL03119:Dcaf6	APN	1	165,167,545 (GRCm39)	missense	probably damaging	1.00
IGL03211:Dcaf6	APN	1	165,250,502 (GRCm39)	missense	possibly damaging	0.55
R0588:Dcaf6	UTSW	1	165,247,792 (GRCm39)	missense	possibly damaging	0.89
R1494:Dcaf6	UTSW	1	165,160,942 (GRCm39)	missense	probably damaging	0.99
R1512:Dcaf6	UTSW	1	165,179,589 (GRCm39)	missense	probably benign	0.22
R1840:Dcaf6	UTSW	1	165,227,317 (GRCm39)	missense	probably damaging	0.96
R2191:Dcaf6	UTSW	1	165,250,433 (GRCm39)	missense	probably benign	0.07
R2297:Dcaf6	UTSW	1	165,227,431 (GRCm39)	missense	probably damaging	1.00
R3082:Dcaf6	UTSW	1	165,250,421 (GRCm39)	splice site	probably benign
R3861:Dcaf6	UTSW	1	165,256,838 (GRCm39)	missense	probably damaging	1.00
R3907:Dcaf6	UTSW	1	165,251,949 (GRCm39)	nonsense	probably null
R4521:Dcaf6	UTSW	1	165,218,059 (GRCm39)	missense	probably damaging	0.98
R4531:Dcaf6	UTSW	1	165,239,036 (GRCm39)	missense	probably damaging	1.00
R4906:Dcaf6	UTSW	1	165,239,032 (GRCm39)	critical splice donor site	probably null
R4916:Dcaf6	UTSW	1	165,247,774 (GRCm39)	missense	probably damaging	1.00
R4956:Dcaf6	UTSW	1	165,216,354 (GRCm39)	missense	probably benign	0.00
R5080:Dcaf6	UTSW	1	165,247,690 (GRCm39)	missense	probably damaging	1.00
R5091:Dcaf6	UTSW	1	165,157,572 (GRCm39)	missense	possibly damaging	0.76
R5277:Dcaf6	UTSW	1	165,251,915 (GRCm39)	missense	probably benign	0.09
R5512:Dcaf6	UTSW	1	165,227,404 (GRCm39)	missense	possibly damaging	0.84
R5914:Dcaf6	UTSW	1	165,178,724 (GRCm39)	missense	probably benign
R6004:Dcaf6	UTSW	1	165,216,254 (GRCm39)	missense	probably benign	0.00
R6239:Dcaf6	UTSW	1	165,178,839 (GRCm39)	missense	possibly damaging	0.47
R6736:Dcaf6	UTSW	1	165,227,354 (GRCm39)	missense	possibly damaging	0.77
R7051:Dcaf6	UTSW	1	165,251,886 (GRCm39)	missense	possibly damaging	0.82
R7110:Dcaf6	UTSW	1	165,179,537 (GRCm39)	missense	probably benign	0.22
R7583:Dcaf6	UTSW	1	165,160,879 (GRCm39)	missense	probably damaging	1.00
R7776:Dcaf6	UTSW	1	165,179,623 (GRCm39)	nonsense	probably null
R7790:Dcaf6	UTSW	1	165,227,284 (GRCm39)	missense	probably damaging	1.00
R8369:Dcaf6	UTSW	1	165,185,043 (GRCm39)	missense	probably damaging	1.00
R8411:Dcaf6	UTSW	1	165,216,244 (GRCm39)	missense	probably benign	0.03
R9307:Dcaf6	UTSW	1	165,227,236 (GRCm39)	missense	possibly damaging	0.90
R9375:Dcaf6	UTSW	1	165,185,052 (GRCm39)	missense	probably damaging	1.00
R9626:Dcaf6	UTSW	1	165,227,264 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAAAAGATTTGATCTCTTTTCCCTC -3'
(R):5'- ACAGTTGGTTACTTTTAGGAAACAT -3'

Sequencing Primer
(F):5'- AGACATGGTCTCATATGTAGCCCTG -3'
(R):5'- ATTGTGAGTTCCAGGACACC -3'

Posted On

2021-11-19