Mutagenetix > Incidental Mutations

Incidental Mutation 'R6319:Dcaf13'

509354

Institutional Source

Beutler Lab

Gene Symbol

Dcaf13

Ensembl Gene

ENSMUSG00000022300

Gene Name

DDB1 and CUL4 associated factor 13

Synonyms

LOC223499, Wdsof1

MMRRC Submission

Accession Numbers

Genbank: NM_198606; MGI: 2684929

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R6319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39112865-39146856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39143672 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 334 (T334A)

Ref Sequence

ENSEMBL: ENSMUSP00000022909 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022909
AA Change: T334A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022909
Gene: ENSMUSG00000022300
AA Change: T334A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,685,401	R233C	probably benign	Het
Abcg2	T	C	6: 58,674,738	S372P	probably benign	Het
Adam34	A	G	8: 43,651,915	I231T	probably benign	Het
Adgrg6	T	A	10: 14,431,622	H840L	probably damaging	Het
Akap11	T	C	14: 78,513,538	T470A	probably benign	Het
Atp1a2	C	G	1: 172,289,336	R238P	probably damaging	Het
B430306N03Rik	A	T	17: 48,316,743	Q24L	probably damaging	Het
Bmp6	A	T	13: 38,346,414	H161L	probably benign	Het
Cdca8	C	A	4: 124,921,294	D177Y	possibly damaging	Het
Col14a1	A	G	15: 55,516,169	T1693A	probably damaging	Het
Cpsf1	A	G	15: 76,596,967	S1230P	probably damaging	Het
Dhx32	A	C	7: 133,737,226	V360G	probably damaging	Het
Dmxl1	A	G	18: 49,852,300	T205A	probably benign	Het
Dxo	A	G	17: 34,838,391	E253G	probably damaging	Het
Enpp1	T	C	10: 24,648,031	Y747C	probably damaging	Het
Gga2	T	C	7: 122,002,166	E238G	possibly damaging	Het
Gpn3	C	T	5: 122,372,575		probably benign	Het
Grik4	A	T	9: 42,566,336	M518K	probably damaging	Het
Igf2r	T	A	17: 12,714,113	S841C	probably damaging	Het
Itfg1	G	T	8: 85,840,629	T37K	probably damaging	Het
Kcnn4	T	A	7: 24,381,740	M301K	possibly damaging	Het
Kel	C	A	6: 41,702,447	E127D	probably benign	Het
Lrp4	A	G	2: 91,480,321	Y569C	probably damaging	Het
Lrp6	A	T	6: 134,541,835	V89D	possibly damaging	Het
Mical2	A	G	7: 112,328,677	D674G	possibly damaging	Het
Mnd1	A	G	3: 84,141,764	S2P	possibly damaging	Het
Neb	T	A	2: 52,163,011		probably null	Het
Olfr146	A	G	9: 39,019,514	V9A	probably damaging	Het
Olfr191	A	G	16: 59,086,021	I154T	probably benign	Het
Olfr609	T	C	7: 103,492,725	E51G	possibly damaging	Het
Pcca	G	A	14: 122,582,623	V60M	probably damaging	Het
Plekhm3	A	T	1: 64,921,934	Y388N	probably benign	Het
Prr18	G	T	17: 8,341,311	V100F	probably damaging	Het
Rnf25	T	C	1: 74,595,731	Y44C	probably damaging	Het
Smg6	T	C	11: 75,156,222	L1247P	probably damaging	Het
Tdh	T	C	14: 63,495,737	T137A	probably benign	Het
Tmem200a	A	G	10: 25,993,495	V292A	probably damaging	Het
Ubr3	T	C	2: 69,973,414	V1116A	probably benign	Het
Ubr4	G	A	4: 139,408,889	E942K	possibly damaging	Het
Unc5b	G	A	10: 60,778,801	A239V	probably damaging	Het
Vill	G	C	9: 119,063,648	Q376H	probably benign	Het
Vmn2r115	A	G	17: 23,347,903	E463G	possibly 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
R5944:Dcaf13	UTSW	15	39146677	missense	probably benign
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
Z1088:Dcaf13	UTSW	15	39145247	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATTCTGTTAGGCCATCTGTCTG -3'
(R):5'- CCATCACAATGGTGTTACCCTG -3'

Sequencing Primer
(F):5'- TTCCCAAGCACTTAGACTAGAAC -3'
(R):5'- CACAATGGTGTTACCCTGATTAAG -3'

Posted On

2018-04-02