Mutagenetix > Incidental Mutation

Incidental Mutation 'R7372:Dek'

572182

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

045455-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

R7372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47238251-47259677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47259053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 51 (E51G)

Ref Sequence

ENSEMBL: ENSMUSP00000021807 (fasta)

Gene Model

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

AlphaFold

Q7TNV0

Predicted Effect

unknown
Transcript: ENSMUST00000021807
AA Change: E51G

SMART Domains

Protein: ENSMUSP00000021807
Gene: ENSMUSG00000021377
AA Change: E51G

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: E51G

SMART Domains

Protein: ENSMUSP00000114392
Gene: ENSMUSG00000021377
AA Change: E51G

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: E51G

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121663
Gene: ENSMUSG00000021377
AA Change: E51G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	G	A	1: 156,450,189 (GRCm39)	V119M	probably damaging	Het
Acss2	T	C	2: 155,399,100 (GRCm39)	V454A	probably damaging	Het
Adam6b	T	A	12: 113,453,784 (GRCm39)	D200E	probably benign	Het
Adarb1	T	A	10: 77,131,712 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Atrnl1	T	C	19: 57,924,078 (GRCm39)	V1281A	possibly damaging	Het
Brdt	A	G	5: 107,518,160 (GRCm39)	E761G	possibly damaging	Het
Bsn	A	T	9: 107,987,718 (GRCm39)	I2678N	unknown	Het
C2cd2	A	T	16: 97,676,580 (GRCm39)	C136S		Het
Camk4	A	G	18: 33,318,178 (GRCm39)	D445G	probably benign	Het
Cckar	T	C	5: 53,864,624 (GRCm39)	T26A	probably damaging	Het
Cd209a	T	A	8: 3,798,857 (GRCm39)		probably null	Het
Cept1	A	G	3: 106,411,056 (GRCm39)	F379S	probably benign	Het
Crhr1	A	G	11: 104,054,719 (GRCm39)		probably null	Het
Cryzl1	T	C	16: 91,509,085 (GRCm39)	E72G	probably benign	Het
Ctnnal1	T	A	4: 56,826,285 (GRCm39)	E526V	possibly damaging	Het
Cyp3a41a	T	C	5: 145,650,374 (GRCm39)	I90V	possibly damaging	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Evc2	T	A	5: 37,544,477 (GRCm39)	V742E	probably damaging	Het
Fat4	G	A	3: 38,944,358 (GRCm39)	V1084M	probably damaging	Het
Fscb	G	A	12: 64,518,598 (GRCm39)	T956I	unknown	Het
Glipr2	T	C	4: 43,968,184 (GRCm39)	L29P	probably damaging	Het
Gm19402	A	T	10: 77,526,261 (GRCm39)	S111T	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,738,843 (GRCm39)	K115E	probably benign	Het
Gpn1	T	A	5: 31,658,465 (GRCm39)	F147I	probably damaging	Het
Gsdmd	T	A	15: 75,737,618 (GRCm39)	L232H	probably benign	Het
Helz2	A	G	2: 180,880,216 (GRCm39)	V500A	possibly damaging	Het
Hemk1	T	C	9: 107,214,267 (GRCm39)	E55G	probably benign	Het
Hs2st1	A	T	3: 144,141,221 (GRCm39)		probably null	Het
Ighv1-63	A	G	12: 115,459,486 (GRCm39)	V37A	probably damaging	Het
Iqsec3	C	A	6: 121,360,991 (GRCm39)	E956*	probably null	Het
Kcnh8	T	A	17: 53,201,129 (GRCm39)	I521K	probably damaging	Het
Kif3c	T	A	12: 3,437,592 (GRCm39)	M531K	probably benign	Het
Kif5c	T	A	2: 49,648,671 (GRCm39)		probably null	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lcor	T	C	19: 41,573,945 (GRCm39)	L900P	probably damaging	Het
Lrrc32	A	G	7: 98,149,014 (GRCm39)	D598G	probably benign	Het
Mug2	T	C	6: 122,060,425 (GRCm39)	V1387A	possibly damaging	Het
Nin	T	A	12: 70,102,803 (GRCm39)	E275V		Het
Or5p68	A	G	7: 107,945,703 (GRCm39)	F162L	probably benign	Het
Papolg	A	G	11: 23,816,439 (GRCm39)	I698T	probably benign	Het
Pcdhb20	A	G	18: 37,639,840 (GRCm39)	N789D	probably benign	Het
Pik3cg	C	T	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnn	T	A	12: 59,115,765 (GRCm39)	D135E	probably damaging	Het
Pold1	C	A	7: 44,192,847 (GRCm39)	R5L	possibly damaging	Het
Prl8a1	A	T	13: 27,758,089 (GRCm39)	F207I	probably damaging	Het
Prr11	A	G	11: 86,989,600 (GRCm39)	V257A	probably benign	Het
Prtg	C	T	9: 72,758,848 (GRCm39)	R401*	probably null	Het
Rasgrp1	A	G	2: 117,115,635 (GRCm39)	M651T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Snx13	A	T	12: 35,128,950 (GRCm39)	I23L	probably benign	Het
Snx7	A	G	3: 117,576,000 (GRCm39)	L429P	probably damaging	Het
Spta1	C	T	1: 174,025,201 (GRCm39)	Q689*	probably null	Het
Spty2d1	T	C	7: 46,648,692 (GRCm39)	D79G	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,515 (GRCm39)		probably null	Het
Tnxb	T	C	17: 34,936,228 (GRCm39)	F2722L	possibly damaging	Het
Tppp2	C	T	14: 52,156,865 (GRCm39)	R81C	probably benign	Het
Trim6	G	T	7: 103,881,843 (GRCm39)	A391S	probably benign	Het
Trim69	A	C	2: 122,009,064 (GRCm39)	T375P	possibly damaging	Het
Trim72	A	G	7: 127,603,858 (GRCm39)	N68S	possibly damaging	Het
Trrap	G	A	5: 144,726,208 (GRCm39)	V386I	probably benign	Het
Ttn	T	C	2: 76,778,275 (GRCm39)	I1371V	unknown	Het
Usp17lb	A	T	7: 104,490,913 (GRCm39)		probably null	Het
Vmn2r20	A	T	6: 123,362,468 (GRCm39)	L772Q	probably damaging	Het
Ypel3	A	G	7: 126,379,200 (GRCm39)	E91G	probably benign	Het
Zbtb21	C	T	16: 97,751,569 (GRCm39)	E905K	possibly damaging	Het
Zfp189	T	A	4: 49,530,417 (GRCm39)	C507S	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
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'- CCACTGATTGTTAGCATTCGCG -3'
(R):5'- CCGCCATTTTGAAAATCTTGTTG -3'

Sequencing Primer
(F):5'- GTTAGCATTCGCGTGAAATCCAC -3'
(R):5'- TGACAGACCCAGGGTAGGC -3'

Posted On

2019-09-13