Mutagenetix > Incidental Mutation

Incidental Mutation 'R5847:Dek'

453692

Institutional Source

Beutler Lab

Gene Symbol

Dek

Ensembl Gene

ENSMUSG00000021377

Gene Name

DEK proto-oncogene

Synonyms

DEK proto-oncogene (DNA binding), D13H6S231E, 1810019E15Rik

MMRRC Submission

044065-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

R5847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47238251-47259677 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 47255077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021807] [ENSMUST00000129352] [ENSMUST00000135278] [ENSMUST00000224150]

AlphaFold

Q7TNV0

Predicted Effect

probably benign
Transcript: ENSMUST00000021807

SMART Domains

Protein: ENSMUSP00000021807
Gene: ENSMUSG00000021377

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
low complexity region	31	55	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
SAP	153	187	2.97e-8	SMART
low complexity region	190	210	N/A	INTRINSIC
low complexity region	231	315	N/A	INTRINSIC
Pfam:DEK_C	327	379	3.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129352

SMART Domains

Protein: ENSMUSP00000114392
Gene: ENSMUSG00000021377

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
low complexity region	31	55	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
SAP	153	187	2.97e-8	SMART
low complexity region	190	210	N/A	INTRINSIC
low complexity region	231	258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135278

SMART Domains

Protein: ENSMUSP00000121663
Gene: ENSMUSG00000021377

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
low complexity region	31	55	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
SAP	153	187	2.97e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150652

Predicted Effect

probably benign
Transcript: ENSMUST00000224150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224610

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit delayed development of DMBA- and TPA-induced papillomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	A	10: 14,302,521 (GRCm39)	Y964F	probably damaging	Het
Akap3	T	A	6: 126,842,521 (GRCm39)	L380Q	probably damaging	Het
Alpk1	A	G	3: 127,473,723 (GRCm39)	I760T	probably benign	Het
Aoc1l2	T	A	6: 48,910,412 (GRCm39)	F701L	probably damaging	Het
Arhgap20	G	A	9: 51,736,276 (GRCm39)		probably benign	Het
Cacng3	T	C	7: 122,361,532 (GRCm39)	F113S	possibly damaging	Het
Ccdc158	G	T	5: 92,775,339 (GRCm39)	N955K	probably benign	Het
Ccdc63	T	A	5: 122,254,908 (GRCm39)	M368L	possibly damaging	Het
Cnot2	T	C	10: 116,363,851 (GRCm39)	T18A	probably damaging	Het
Ctnna2	A	T	6: 76,950,820 (GRCm39)	D550E	possibly damaging	Het
Cyp2c37	C	T	19: 40,000,176 (GRCm39)	R433W	probably damaging	Het
Dact2	A	G	17: 14,419,450 (GRCm39)	S103P	probably damaging	Het
Dnah9	CAGTTGCTTAAA	CA	11: 65,986,066 (GRCm39)		probably null	Het
Dock4	A	G	12: 40,671,250 (GRCm39)	Y23C	probably damaging	Het
Edar	T	A	10: 58,439,001 (GRCm39)	S344C	probably damaging	Het
Epg5	T	C	18: 78,073,270 (GRCm39)	V2431A	probably benign	Het
Evc2	C	T	5: 37,562,068 (GRCm39)		probably benign	Het
Idh3b	A	T	2: 130,125,948 (GRCm39)	D41E	probably benign	Het
Igkv8-24	A	T	6: 70,193,956 (GRCm39)	V84D	probably damaging	Het
Iqca1l	A	T	5: 24,749,164 (GRCm39)	L778Q	probably benign	Het
Mgam	T	C	6: 40,660,989 (GRCm39)	I1118T	probably benign	Het
Mtmr3	A	G	11: 4,432,925 (GRCm39)	V1116A	probably damaging	Het
Myoc	A	G	1: 162,466,936 (GRCm39)	Y35C	probably damaging	Het
Ncr1	A	T	7: 4,347,573 (GRCm39)	D246V	probably benign	Het
Nphp3	A	G	9: 103,880,236 (GRCm39)	E86G	probably damaging	Het
Or2l13b	A	T	16: 19,349,076 (GRCm39)	V198E	probably damaging	Het
Or52e5	A	T	7: 104,719,064 (GRCm39)	Y130F	probably benign	Het
Or8h7	A	C	2: 86,720,676 (GRCm39)	V281G	probably damaging	Het
Pbld1	A	T	10: 62,912,193 (GRCm39)	I275L	probably benign	Het
Pde12	A	G	14: 26,386,786 (GRCm39)	V574A	possibly damaging	Het
Pdxk	G	T	10: 78,280,872 (GRCm39)	D189E	probably benign	Het
Pkhd1	C	A	1: 20,444,960 (GRCm39)	E2276*	probably null	Het
Ppp1r10	A	G	17: 36,237,739 (GRCm39)	N237S	possibly damaging	Het
Rheb	T	A	5: 25,012,067 (GRCm39)	Y131F	probably benign	Het
Rpgrip1l	T	C	8: 92,031,613 (GRCm39)	D88G	probably damaging	Het
Scgb2b33	T	C	7: 32,812,239 (GRCm39)		noncoding transcript	Het
Snx9	C	A	17: 5,974,896 (GRCm39)	N461K	possibly damaging	Het
Tbc1d2b	C	A	9: 90,091,777 (GRCm39)	V842F	probably damaging	Het
Tgfbi	G	A	13: 56,784,418 (GRCm39)	E615K	possibly damaging	Het
Tmem51	A	G	4: 141,759,346 (GRCm39)	M134T	probably damaging	Het
Tox4	A	G	14: 52,524,241 (GRCm39)	D125G	probably damaging	Het
Trappc3	A	T	4: 126,167,771 (GRCm39)	N110I	probably damaging	Het
Trim11	T	A	11: 58,881,419 (GRCm39)	D437E	probably damaging	Het
Ttc23l	T	C	15: 10,537,682 (GRCm39)	N196S	probably benign	Het
Wnk1	C	A	6: 119,969,369 (GRCm39)	G362V	probably damaging	Het
Wwc1	A	G	11: 35,758,153 (GRCm39)	F731S	probably damaging	Het
Wwp1	A	T	4: 19,662,174 (GRCm39)	D140E	possibly damaging	Het
Zfp24	G	A	18: 24,151,095 (GRCm39)	P17L	possibly damaging	Het
Zfp354b	T	C	11: 50,814,043 (GRCm39)	E294G	probably damaging	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zfp868	T	C	8: 70,064,303 (GRCm39)	H344R	probably damaging	Het

Other mutations in Dek

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01930:Dek	APN	13	47,241,611 (GRCm39)	missense	probably benign	0.37
R1438:Dek	UTSW	13	47,241,647 (GRCm39)	missense	probably benign	0.23
R4118:Dek	UTSW	13	47,242,076 (GRCm39)	missense	probably benign	0.01
R5235:Dek	UTSW	13	47,239,955 (GRCm39)	splice site	probably null
R6285:Dek	UTSW	13	47,252,856 (GRCm39)	missense	probably damaging	1.00
R6736:Dek	UTSW	13	47,252,866 (GRCm39)	missense	probably damaging	1.00
R6903:Dek	UTSW	13	47,251,663 (GRCm39)	missense	possibly damaging	0.83
R7120:Dek	UTSW	13	47,253,659 (GRCm39)	missense	unknown
R7359:Dek	UTSW	13	47,259,065 (GRCm39)	missense	unknown
R7372:Dek	UTSW	13	47,259,053 (GRCm39)	missense	unknown
R7504:Dek	UTSW	13	47,241,511 (GRCm39)	missense	probably damaging	1.00
R8805:Dek	UTSW	13	47,252,930 (GRCm39)	missense	unknown
RF016:Dek	UTSW	13	47,251,662 (GRCm39)	nonsense	probably null
Z1177:Dek	UTSW	13	47,259,102 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTCTAGACCCAGTTAGGAGG -3'
(R):5'- CCCTGTTAGCACAAAGTTATCC -3'

Sequencing Primer
(F):5'- CCAGCTATGTTTACCATGGTATG -3'
(R):5'- AAAGTTATCCAAATTATGTGGTGGGG -3'

Posted On

2017-02-10