Mutagenetix > Incidental Mutation

Incidental Mutation 'R0711:Dcaf13'

218651

Institutional Source

Beutler Lab

Gene Symbol

Dcaf13

Ensembl Gene

ENSMUSG00000022300

Gene Name

DDB1 and CUL4 associated factor 13

Synonyms

LOC223499, Wdsof1

MMRRC Submission

038894-MU

Accession Numbers

Genbank: NM_198606; MGI: 2684929

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0711 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

39112865-39146856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39138089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 264 (Y264C)

Ref Sequence

ENSEMBL: ENSMUSP00000022909 (fasta)

Gene Model

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

AlphaFold

Q6PAC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022909
AA Change: Y264C

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

SMART Domains

Protein: ENSMUSP00000022909
Gene: ENSMUSG00000022300
AA Change: Y264C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226224

Meta Mutation Damage Score

0.9681

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 91.4%

Validation Efficiency

100% (91/91)

Allele List at MGI

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

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,068,225	D1058E	probably damaging	Het
4933405L10Rik	A	T	8: 105,708,931		probably null	Het
Adamtsl3	T	A	7: 82,465,699		probably benign	Het
Afdn	C	T	17: 13,852,436	P874S	probably damaging	Het
Ankrd6	G	A	4: 32,815,326	A391V	probably damaging	Het
Arhgef28	T	G	13: 97,931,254	T1388P	probably damaging	Het
Asxl3	G	T	18: 22,524,451	M1839I	probably benign	Het
BC005537	T	C	13: 24,805,940	F129L	probably damaging	Het
Celf2	A	G	2: 6,721,415		probably null	Het
Chid1	C	T	7: 141,496,677	V325I	probably benign	Het
Cnn3	T	A	3: 121,449,984	D31E	probably benign	Het
Col12a1	G	A	9: 79,652,035	P1857L	probably damaging	Het
Cpeb1	T	A	7: 81,351,870	R430W	probably benign	Het
Daw1	T	C	1: 83,191,338		probably benign	Het
Dnah6	T	C	6: 73,087,602	I2666V	probably damaging	Het
Dnaic2	A	C	11: 114,754,332	D531A	probably benign	Het
Dock10	A	T	1: 80,523,975	F1833I	probably damaging	Het
Efhd2	C	T	4: 141,859,872	A200T	probably damaging	Het
Epb41l5	T	A	1: 119,623,911		probably benign	Het
Ermp1	A	G	19: 29,631,388	Y164H	possibly damaging	Het
Gkn2	T	C	6: 87,373,419		probably benign	Het
Golgb1	A	T	16: 36,918,790	Q2497L	probably damaging	Het
Gzme	A	T	14: 56,117,739	M245K	probably damaging	Het
Iars2	A	T	1: 185,322,388		probably benign	Het
Icosl	T	A	10: 78,073,941	V240D	probably damaging	Het
Igsf3	T	C	3: 101,427,393	M262T	probably benign	Het
Ing3	G	T	6: 21,971,237	E336*	probably null	Het
Kat2a	A	T	11: 100,706,471	V625E	probably damaging	Het
Ksr1	A	G	11: 79,038,247		probably benign	Het
Lypd8	A	T	11: 58,386,757	M122L	probably benign	Het
Mdfi	A	T	17: 47,832,930		probably benign	Het
Med13	A	G	11: 86,301,353		probably benign	Het
Msh6	C	T	17: 87,986,684	R956C	probably damaging	Het
Myo15b	A	G	11: 115,883,838	E670G	probably damaging	Het
Myo1d	A	G	11: 80,484,332	L972P	probably damaging	Het
Olfr1193	A	G	2: 88,678,674	D266G	probably damaging	Het
Olfr632	G	A	7: 103,937,817	A146T	probably benign	Het
Olfr834	T	A	9: 18,988,151	N54K	probably benign	Het
Pde8b	C	G	13: 95,107,817	S143T	possibly damaging	Het
Pias4	G	T	10: 81,157,530		probably benign	Het
Prkca	A	G	11: 107,981,654	Y427H	probably benign	Het
Psg25	G	A	7: 18,529,560	Q113*	probably null	Het
Rab3gap2	T	A	1: 185,249,926	S392T	probably damaging	Het
Scrib	A	G	15: 76,066,907		probably benign	Het
Sdk2	A	G	11: 113,903,144		probably benign	Het
Serpinb1c	T	A	13: 32,886,283		probably benign	Het
Serpinb9f	T	A	13: 33,327,921	W136R	probably damaging	Het
Skint10	C	A	4: 112,715,905		probably benign	Het
Slc25a13	T	C	6: 6,117,128	T196A	probably damaging	Het
Slc26a5	T	C	5: 21,847,232	H33R	probably damaging	Het
Slc27a6	T	C	18: 58,598,757		probably benign	Het
Slitrk6	A	T	14: 110,749,819	Y819N	probably damaging	Het
Spata46	C	T	1: 170,312,034	Q201*	probably null	Het
Sptbn1	A	T	11: 30,114,739	V1920E	probably damaging	Het
Taf6l	A	G	19: 8,778,517	F256L	probably benign	Het
Tmco3	T	A	8: 13,292,039	N104K	probably damaging	Het
Tmem200c	A	G	17: 68,842,254	T611A	probably damaging	Het
Tmem202	T	G	9: 59,525,372	Y24S	probably damaging	Het
Tpp1	A	G	7: 105,749,419	L230P	probably damaging	Het
Trim56	C	T	5: 137,112,992	E557K	probably benign	Het
Trrap	C	T	5: 144,853,499	L3590F	probably damaging	Het
Ttc37	C	T	13: 76,182,891	P1480L	probably damaging	Het
Tulp4	A	G	17: 6,139,112	T70A	possibly damaging	Het
Vcp	G	C	4: 42,986,201	A297G	probably benign	Het
Vwf	T	A	6: 125,626,271	H861Q	probably benign	Het
Wdr64	T	C	1: 175,772,185	I536T	probably benign	Het
Zfp72	G	A	13: 74,376,425		probably benign	Het
Zfp850	T	C	7: 27,990,273	N170S	probably benign	Het

Other mutations in Dcaf13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Dcaf13	APN	15	39143632	nonsense	probably null
IGL01081:Dcaf13	APN	15	39118806	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCTGTCCTCACAGAGCAAACCAG -3'
(R):5'- CGGCTCTTGTCCACAGGAAAGATTC -3'

Sequencing Primer
(F):5'- tgtttgtctctttgtttgcttattg -3'
(R):5'- CTAATAGACTTATCAAAGCTGGCAG -3'

Posted On

2014-08-18