Mutagenetix > Incidental Mutations

Incidental Mutation 'R5944:Dcaf13'

460496

Institutional Source

Beutler Lab

Gene Symbol

Dcaf13

Ensembl Gene

ENSMUSG00000022300

Gene Name

DDB1 and CUL4 associated factor 13

Synonyms

LOC223499, Wdsof1

MMRRC Submission

044136-MU

Accession Numbers

Genbank: NM_198606; MGI: 2684929

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R5944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39112865-39146856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39146677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 419 (M419L)

Ref Sequence

ENSEMBL: ENSMUSP00000022909 (fasta)

Gene Model

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

AlphaFold

Q6PAC3

Predicted Effect

probably benign
Transcript: ENSMUST00000022909
AA Change: M419L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022909
Gene: ENSMUSG00000022300
AA Change: M419L

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: ENSMUST00000122613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227219

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

86% (51/59)

Allele List at MGI

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

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	T	5: 114,245,980	R2190L	probably damaging	Het
Ankrd17	C	T	5: 90,285,843	R689H	probably damaging	Het
Apol7b	A	T	15: 77,423,767	V176E	probably damaging	Het
Arsg	T	C	11: 109,535,311	F319S	probably damaging	Het
Bcar3	T	A	3: 122,523,283	D634E	probably benign	Het
Bend7	T	C	2: 4,744,356	W95R	probably damaging	Het
Cenpj	A	G	14: 56,553,658		probably null	Het
Clasrp	A	T	7: 19,594,506	Y116N	probably damaging	Het
Cldn17	T	C	16: 88,506,709	E44G	probably damaging	Het
Cyfip1	G	A	7: 55,872,130	E61K	probably damaging	Het
Eml4	A	G	17: 83,446,043	D269G	possibly damaging	Het
Fap	T	C	2: 62,542,261	Y258C	probably damaging	Het
Fdxr	T	A	11: 115,269,846	T288S	probably benign	Het
Frs3	T	C	17: 47,692,308		probably benign	Het
Gm5581	T	A	6: 131,168,400		noncoding transcript	Het
Gm7964	A	G	7: 83,756,535	D187G	probably benign	Het
Gpc5	T	C	14: 115,369,838	V284A	probably benign	Het
Hspa9	T	C	18: 34,949,023	T177A	possibly damaging	Het
Ifi202b	T	A	1: 173,963,799	M438L	probably benign	Het
Ighv1-3	T	C	12: 114,481,619		probably benign	Het
Krt36	G	T	11: 100,105,313	A95E	probably benign	Het
Krt9	C	T	11: 100,188,439	S709N	unknown	Het
Lmntd1	A	T	6: 145,427,316	S164T	probably damaging	Het
Maats1	G	T	16: 38,328,310	T252N	probably damaging	Het
Olfr1442	C	T	19: 12,674,919	T238I	probably damaging	Het
Olfr295	T	A	7: 86,585,278	M1K	probably null	Het
Olfr503	G	A	7: 108,545,277	A249T	possibly damaging	Het
Olfr57	A	T	10: 79,035,389	M198L	probably benign	Het
Olfr694	A	T	7: 106,689,646	C28*	probably null	Het
Papola	T	A	12: 105,812,385	F341I	possibly damaging	Het
Phf3	A	G	1: 30,820,704	L914P	probably damaging	Het
Sec24d	T	C	3: 123,293,581	V132A	probably benign	Het
Serpini1	G	A	3: 75,640,299	D373N	probably damaging	Het
Sigirr	T	C	7: 141,091,387	Y394C	probably damaging	Het
Slc29a4	G	A	5: 142,718,818	E372K	probably damaging	Het
Slc7a4	C	T	16: 17,574,356	V405I	possibly damaging	Het
Spatc1	T	C	15: 76,283,938	L199P	probably damaging	Het
Srgap3	T	C	6: 112,795,814	M149V	possibly damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Stat3	C	T	11: 100,895,105	A449T	probably damaging	Het
Stat4	A	G	1: 52,074,739	N203D	probably damaging	Het
Tanc1	T	C	2: 59,837,220		probably null	Het
Trav3-1	T	C	14: 52,580,992	I41T	probably benign	Het
Usp34	T	A	11: 23,363,089	D525E	probably damaging	Het
Vars	T	C	17: 35,013,644	V848A	probably damaging	Het
Vmn2r101	A	T	17: 19,589,507	D185V	probably benign	Het
Wiz	A	G	17: 32,357,697	S628P	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	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
R0711:Dcaf13	UTSW	15	39138089	missense	probably damaging	1.00
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
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
Z1088:Dcaf13	UTSW	15	39145247	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTAAACTTAGTAAGGGATGCTGGG -3'
(R):5'- AGCTGGCTCTTAGATCAGTGC -3'

Sequencing Primer
(F):5'- GCATGCAGCACTAAGGTGTATTCC -3'
(R):5'- CTGGCTCTTAGATCAGTGCAAGTAG -3'

Posted On

2017-02-28