Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Dek'

672024

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

068642-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47238251-47259677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47252930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 158 (N158K)

Ref Sequence

ENSEMBL: ENSMUSP00000021807 (fasta)

Gene Model

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

AlphaFold

Q7TNV0

Predicted Effect

unknown
Transcript: ENSMUST00000021807
AA Change: N158K

SMART Domains

Protein: ENSMUSP00000021807
Gene: ENSMUSG00000021377
AA Change: N158K

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

unknown
Transcript: ENSMUST00000129352
AA Change: N158K

SMART Domains

Protein: ENSMUSP00000114392
Gene: ENSMUSG00000021377
AA Change: N158K

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
AA Change: N158K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121663
Gene: ENSMUSG00000021377
AA Change: N158K

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

probably benign
Transcript: ENSMUST00000224150

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (70/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,226,737 (GRCm39)	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,313,285 (GRCm39)		probably benign	Het
Actl6b	G	A	5: 137,552,918 (GRCm39)	M82I	probably benign	Het
Bmp2	T	A	2: 133,403,254 (GRCm39)	D268E	probably damaging	Het
Cacng7	T	A	7: 3,415,298 (GRCm39)	L221H	probably damaging	Het
Ccser2	A	G	14: 36,601,712 (GRCm39)	V224A	probably damaging	Het
Cdc40	A	G	10: 40,733,576 (GRCm39)	F125L	probably damaging	Het
Cfap46	C	T	7: 139,211,979 (GRCm39)	A1669T	unknown	Het
Cfap58	A	T	19: 47,941,535 (GRCm39)	E301V	probably damaging	Het
Clcn2	C	A	16: 20,532,168 (GRCm39)	G96C	probably damaging	Het
Cotl1	T	A	8: 120,536,944 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,216,110 (GRCm39)	A812T	probably damaging	Het
Cracd	T	C	5: 77,006,489 (GRCm39)	V950A	unknown	Het
Crnkl1	T	C	2: 145,773,350 (GRCm39)		probably null	Het
Cry1	A	G	10: 84,992,969 (GRCm39)	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,540,530 (GRCm39)	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,327,462 (GRCm39)	F425L	probably damaging	Het
Dgcr8	T	A	16: 18,076,161 (GRCm39)	Q674L	probably damaging	Het
Dlec1	C	A	9: 118,941,650 (GRCm39)	S345R	probably benign	Het
Dnah7b	T	A	1: 46,273,305 (GRCm39)	C2478S	possibly damaging	Het
Dstyk	T	A	1: 132,361,963 (GRCm39)	L131Q	probably damaging	Het
Fbxw7	T	A	3: 84,862,227 (GRCm39)	L186M		Het
Fn1	T	C	1: 71,644,239 (GRCm39)	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,813,453 (GRCm39)	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,681,042 (GRCm39)	V238A	probably damaging	Het
Gm9611	T	C	14: 42,116,657 (GRCm39)	D131G		Het
Gpatch8	T	C	11: 102,371,018 (GRCm39)	E840G	unknown	Het
Grm5	G	A	7: 87,453,176 (GRCm39)	R271Q	probably damaging	Het
Has3	A	T	8: 107,601,135 (GRCm39)	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Il2	T	A	3: 37,177,282 (GRCm39)	T85S	possibly damaging	Het
Kank4	T	C	4: 98,668,273 (GRCm39)	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,905,379 (GRCm39)	I154F	probably damaging	Het
Krt1c	T	C	15: 101,724,379 (GRCm39)	K295R	possibly damaging	Het
Lipm	A	T	19: 34,090,308 (GRCm39)	D163V	probably damaging	Het
Lpl	A	G	8: 69,340,215 (GRCm39)	N70S	probably damaging	Het
Mgme1	A	G	2: 144,114,451 (GRCm39)		probably benign	Het
Mnd1	T	A	3: 83,995,432 (GRCm39)	E187D	probably benign	Het
Morn5	A	G	2: 35,969,533 (GRCm39)	D149G	probably benign	Het
Mrrf	G	A	2: 36,037,965 (GRCm39)	V79I	probably damaging	Het
Msh4	T	A	3: 153,563,270 (GRCm39)	Q896L	probably benign	Het
Mtus2	A	C	5: 148,015,303 (GRCm39)	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,803,880 (GRCm39)	C130S	unknown	Het
Ntn5	A	T	7: 45,333,899 (GRCm39)	Y4F	probably benign	Het
Or7e174	T	C	9: 20,012,580 (GRCm39)	V175A	probably benign	Het
Osm	A	G	11: 4,189,839 (GRCm39)	S208G	probably benign	Het
Pcsk6	T	A	7: 65,578,891 (GRCm39)	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,390,104 (GRCm39)	E486G	probably benign	Het
Pdzk1	T	A	3: 96,758,910 (GRCm39)	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,435,155 (GRCm39)	S524T	probably benign	Het
Prkd1	T	A	12: 50,435,156 (GRCm39)	S524C	probably damaging	Het
Rab4b	T	C	7: 26,874,148 (GRCm39)	I90V		Het
Rc3h1	T	C	1: 160,795,222 (GRCm39)	V1083A	probably benign	Het
Rfx7	C	T	9: 72,524,316 (GRCm39)	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,702,558 (GRCm39)	Y332C	probably damaging	Het
Senp2	A	G	16: 21,846,789 (GRCm39)	T265A	probably benign	Het
Slc38a3	T	C	9: 107,532,345 (GRCm39)	M396V	probably benign	Het
Sord	G	A	2: 122,094,607 (GRCm39)	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,344,653 (GRCm39)		probably benign	Het
Star	G	A	8: 26,299,577 (GRCm39)	R53H	probably benign	Het
Stard4	T	G	18: 33,336,749 (GRCm39)	I189L	possibly damaging	Het
Stk38	G	T	17: 29,219,094 (GRCm39)	T7K	probably benign	Het
Stxbp5	T	A	10: 9,713,859 (GRCm39)	K227*	probably null	Het
Taf4b	C	T	18: 14,946,485 (GRCm39)	P436L	possibly damaging	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Tmem158	A	G	9: 123,089,309 (GRCm39)	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281 (GRCm39)	S77P	probably benign	Het
Ttn	A	T	2: 76,720,307 (GRCm39)	L6973*	probably null	Het
Tubal3	T	C	13: 3,983,293 (GRCm39)	F358L	probably damaging	Het
Tut4	T	C	4: 108,406,575 (GRCm39)	V1381A	possibly damaging	Het
Vmn1r214	C	T	13: 23,219,273 (GRCm39)	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,282,396 (GRCm39)	V740A	probably benign	Het
Yipf1	A	T	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zdhhc2	G	T	8: 40,898,846 (GRCm39)		probably null	Het
Zfp655	C	T	5: 145,181,290 (GRCm39)	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,622,410 (GRCm39)	T445I	possibly 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
R5847:Dek	UTSW	13	47,255,077 (GRCm39)	unclassified	probably benign
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
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'- GCAGTTCTGTCAATGGAAGAC -3'
(R):5'- TGCTAGCAAGGTGACAGACTC -3'

Sequencing Primer
(F):5'- ATGTTGTCATTGGTGAGAGAAAG -3'
(R):5'- CTAGCAAGGTGACAGACTCTTAGAAC -3'

Posted On

2021-04-30