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

Wdsof1, LOC223499

MMRRC Submission

038894-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R0711 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38976300-39010251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39001484 bp (GRCm39)

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: 137,773,986 (GRCm39)	D1058E	probably damaging	Het
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Afdn	C	T	17: 14,072,698 (GRCm39)	P874S	probably damaging	Het
Ankrd6	G	A	4: 32,815,326 (GRCm39)	A391V	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Asxl3	G	T	18: 22,657,508 (GRCm39)	M1839I	probably benign	Het
BC005537	T	C	13: 24,989,923 (GRCm39)	F129L	probably damaging	Het
Celf2	A	G	2: 6,726,226 (GRCm39)		probably null	Het
Chid1	C	T	7: 141,076,590 (GRCm39)	V325I	probably benign	Het
Cnn3	T	A	3: 121,243,633 (GRCm39)	D31E	probably benign	Het
Col12a1	G	A	9: 79,559,317 (GRCm39)	P1857L	probably damaging	Het
Cpeb1	T	A	7: 81,001,618 (GRCm39)	R430W	probably benign	Het
Daw1	T	C	1: 83,169,059 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,064,585 (GRCm39)	I2666V	probably damaging	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dock10	A	T	1: 80,501,692 (GRCm39)	F1833I	probably damaging	Het
Efhd2	C	T	4: 141,587,183 (GRCm39)	A200T	probably damaging	Het
Epb41l5	T	A	1: 119,551,641 (GRCm39)		probably benign	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Gkn2	T	C	6: 87,350,401 (GRCm39)		probably benign	Het
Golgb1	A	T	16: 36,739,152 (GRCm39)	Q2497L	probably damaging	Het
Gzme	A	T	14: 56,355,196 (GRCm39)	M245K	probably damaging	Het
Iars2	A	T	1: 185,054,585 (GRCm39)		probably benign	Het
Icosl	T	A	10: 77,909,775 (GRCm39)	V240D	probably damaging	Het
Igsf3	T	C	3: 101,334,709 (GRCm39)	M262T	probably benign	Het
Ing3	G	T	6: 21,971,236 (GRCm39)	E336*	probably null	Het
Kat2a	A	T	11: 100,597,297 (GRCm39)	V625E	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,583 (GRCm39)	M122L	probably benign	Het
Mdfi	A	T	17: 48,143,855 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,192,179 (GRCm39)		probably benign	Het
Msh6	C	T	17: 88,294,112 (GRCm39)	R956C	probably damaging	Het
Myo15b	A	G	11: 115,774,664 (GRCm39)	E670G	probably damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Or4s2b	A	G	2: 88,509,018 (GRCm39)	D266G	probably damaging	Het
Or51ai2	G	A	7: 103,587,024 (GRCm39)	A146T	probably benign	Het
Or7g12	T	A	9: 18,899,447 (GRCm39)	N54K	probably benign	Het
Pde8b	C	G	13: 95,244,325 (GRCm39)	S143T	possibly damaging	Het
Pias4	G	T	10: 80,993,364 (GRCm39)		probably benign	Het
Prkca	A	G	11: 107,872,480 (GRCm39)	Y427H	probably benign	Het
Psg25	G	A	7: 18,263,485 (GRCm39)	Q113*	probably null	Het
Rab3gap2	T	A	1: 184,982,123 (GRCm39)	S392T	probably damaging	Het
Scrib	A	G	15: 75,938,756 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,793,970 (GRCm39)		probably benign	Het
Serpinb1c	T	A	13: 33,070,266 (GRCm39)		probably benign	Het
Serpinb9f	T	A	13: 33,511,904 (GRCm39)	W136R	probably damaging	Het
Skic3	C	T	13: 76,331,010 (GRCm39)	P1480L	probably damaging	Het
Skint10	C	A	4: 112,573,102 (GRCm39)		probably benign	Het
Slc25a13	T	C	6: 6,117,128 (GRCm39)	T196A	probably damaging	Het
Slc26a5	T	C	5: 22,052,230 (GRCm39)	H33R	probably damaging	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,251 (GRCm39)	Y819N	probably damaging	Het
Spata46	C	T	1: 170,139,603 (GRCm39)	Q201*	probably null	Het
Sptbn1	A	T	11: 30,064,739 (GRCm39)	V1920E	probably damaging	Het
Taf6l	A	G	19: 8,755,881 (GRCm39)	F256L	probably benign	Het
Tmco3	T	A	8: 13,342,039 (GRCm39)	N104K	probably damaging	Het
Tmem200c	A	G	17: 69,149,249 (GRCm39)	T611A	probably damaging	Het
Tmem202	T	G	9: 59,432,655 (GRCm39)	Y24S	probably damaging	Het
Tpp1	A	G	7: 105,398,626 (GRCm39)	L230P	probably damaging	Het
Trim56	C	T	5: 137,141,846 (GRCm39)	E557K	probably benign	Het
Trrap	C	T	5: 144,790,309 (GRCm39)	L3590F	probably damaging	Het
Tulp4	A	G	17: 6,189,387 (GRCm39)	T70A	possibly damaging	Het
Vcp	G	C	4: 42,986,201 (GRCm39)	A297G	probably benign	Het
Vwf	T	A	6: 125,603,234 (GRCm39)	H861Q	probably benign	Het
Wdr64	T	C	1: 175,599,751 (GRCm39)	I536T	probably benign	Het
Zfp850	T	C	7: 27,689,698 (GRCm39)	N170S	probably benign	Het
Zfp87	G	A	13: 74,524,544 (GRCm39)		probably benign	Het

Other mutations in Dcaf13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Dcaf13	APN	15	39,007,027 (GRCm39)	nonsense	probably null
IGL01081:Dcaf13	APN	15	38,982,201 (GRCm39)	missense	probably damaging	1.00
IGL01766:Dcaf13	APN	15	38,982,145 (GRCm39)	missense	probably benign	0.00
IGL02174:Dcaf13	APN	15	39,001,544 (GRCm39)	missense	probably damaging	1.00
IGL02262:Dcaf13	APN	15	38,982,102 (GRCm39)	splice site	probably benign
IGL02740:Dcaf13	APN	15	39,008,495 (GRCm39)	nonsense	probably null
IGL03092:Dcaf13	APN	15	38,991,371 (GRCm39)	splice site	probably benign
IGL03374:Dcaf13	APN	15	39,008,543 (GRCm39)	nonsense	probably null
R0590:Dcaf13	UTSW	15	39,008,480 (GRCm39)	splice site	probably benign
R0594:Dcaf13	UTSW	15	38,986,663 (GRCm39)	missense	probably benign	0.00
R1036:Dcaf13	UTSW	15	39,007,113 (GRCm39)	missense	probably damaging	1.00
R1770:Dcaf13	UTSW	15	38,993,633 (GRCm39)	missense	probably damaging	1.00
R1826:Dcaf13	UTSW	15	38,982,294 (GRCm39)	missense	probably damaging	1.00
R1933:Dcaf13	UTSW	15	39,001,483 (GRCm39)	missense	probably damaging	0.99
R2508:Dcaf13	UTSW	15	39,008,547 (GRCm39)	missense	probably benign
R4113:Dcaf13	UTSW	15	38,993,615 (GRCm39)	missense	probably damaging	0.98
R4595:Dcaf13	UTSW	15	38,982,288 (GRCm39)	missense	probably damaging	1.00
R4649:Dcaf13	UTSW	15	39,001,637 (GRCm39)	missense	possibly damaging	0.54
R5431:Dcaf13	UTSW	15	38,986,619 (GRCm39)	missense	probably benign	0.16
R5454:Dcaf13	UTSW	15	38,987,759 (GRCm39)	missense	probably benign
R5834:Dcaf13	UTSW	15	39,007,037 (GRCm39)	nonsense	probably null
R5929:Dcaf13	UTSW	15	39,007,048 (GRCm39)	missense	possibly damaging	0.89
R5944:Dcaf13	UTSW	15	39,010,072 (GRCm39)	missense	probably benign
R6319:Dcaf13	UTSW	15	39,007,067 (GRCm39)	missense	probably benign	0.00
R6394:Dcaf13	UTSW	15	39,007,132 (GRCm39)	missense	probably benign	0.04
R6664:Dcaf13	UTSW	15	38,982,283 (GRCm39)	missense	probably damaging	1.00
R6884:Dcaf13	UTSW	15	38,986,635 (GRCm39)	missense	probably damaging	1.00
R7419:Dcaf13	UTSW	15	38,993,615 (GRCm39)	missense	probably damaging	0.98
R8750:Dcaf13	UTSW	15	38,982,836 (GRCm39)	missense	probably damaging	1.00
R8944:Dcaf13	UTSW	15	39,001,612 (GRCm39)	missense	possibly damaging	0.79
R9294:Dcaf13	UTSW	15	38,993,687 (GRCm39)	missense	possibly damaging	0.92
R9300:Dcaf13	UTSW	15	39,010,102 (GRCm39)	missense	probably damaging	1.00
R9663:Dcaf13	UTSW	15	38,982,178 (GRCm39)	missense	possibly damaging	0.88
R9696:Dcaf13	UTSW	15	39,001,496 (GRCm39)	missense	possibly damaging	0.80
R9778:Dcaf13	UTSW	15	39,008,586 (GRCm39)	missense	probably damaging	0.99
Z1088:Dcaf13	UTSW	15	39,008,642 (GRCm39)	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