Incidental Mutation 'IGL01930:Dek'
ID180408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dek
Ensembl Gene ENSMUSG00000021377
Gene NameDEK oncogene (DNA binding)
SynonymsD13H6S231E, 1810019E15Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.684) question?
Stock #IGL01930
Quality Score
Status
Chromosome13
Chromosomal Location47084775-47106201 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47088135 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 318 (I318V)
Ref Sequence ENSEMBL: ENSMUSP00000021807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021807] [ENSMUST00000037025] [ENSMUST00000135278] [ENSMUST00000224150]
Predicted Effect probably benign
Transcript: ENSMUST00000021807
AA Change: I318V

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021807
Gene: ENSMUSG00000021377
AA Change: I318V

DomainStartEndE-ValueType
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: ENSMUST00000037025
SMART Domains Protein: ENSMUSP00000038373
Gene: ENSMUSG00000038080

DomainStartEndE-ValueType
Pfam:zf-CW 138 191 2.6e-13 PFAM
low complexity region 235 253 N/A INTRINSIC
Pfam:SWIRM 286 369 6e-12 PFAM
Pfam:Pyr_redox_2 368 490 3.1e-8 PFAM
Pfam:Thi4 375 446 2.2e-10 PFAM
Pfam:FAD_binding_3 388 423 4.1e-7 PFAM
Pfam:HI0933_like 389 428 1.6e-7 PFAM
Pfam:FAD_binding_2 390 428 1.6e-6 PFAM
Pfam:Pyr_redox 390 438 8e-8 PFAM
Pfam:NAD_binding_8 393 460 1.6e-13 PFAM
Pfam:Amino_oxidase 398 824 3.7e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128977
Predicted Effect probably benign
Transcript: ENSMUST00000135278
SMART Domains Protein: ENSMUSP00000121663
Gene: ENSMUSG00000021377

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000143518
SMART Domains Protein: ENSMUSP00000114999
Gene: ENSMUSG00000038080

DomainStartEndE-ValueType
Pfam:SWIRM 3 86 1.1e-12 PFAM
Pfam:Thi4 91 163 3.5e-10 PFAM
Pfam:FAD_binding_3 105 140 3.5e-7 PFAM
Pfam:HI0933_like 106 145 1.7e-7 PFAM
Pfam:Pyr_redox_2 106 251 1.5e-10 PFAM
Pfam:FAD_binding_2 107 150 5.7e-7 PFAM
Pfam:Pyr_redox 107 158 6.4e-8 PFAM
Pfam:Pyr_redox_3 109 288 1.2e-13 PFAM
Pfam:NAD_binding_8 110 177 2.3e-13 PFAM
Pfam:Amino_oxidase 115 181 8.6e-19 PFAM
Pfam:Amino_oxidase 178 441 4.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224150
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810011H11Rik G A 14: 32,816,857 E92K probably benign Het
4930433N12Rik C T 9: 3,134,875 noncoding transcript Het
Acsf3 A G 8: 122,780,346 Y126C probably benign Het
Akr1c20 T A 13: 4,507,648 probably benign Het
Cdan1 T C 2: 120,726,582 probably benign Het
Cdc42bpg C T 19: 6,311,368 A308V probably damaging Het
Dvl1 A G 4: 155,856,188 M422V possibly damaging Het
Erbin G A 13: 103,841,172 L626F probably damaging Het
Fa2h A T 8: 111,349,304 V229E possibly damaging Het
Gfpt1 T A 6: 87,059,415 H193Q possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gpr162 A G 6: 124,861,612 L25P possibly damaging Het
Hsd3b5 T C 3: 98,622,159 T52A probably benign Het
Megf8 T A 7: 25,334,861 V668D probably damaging Het
Olfr418 T C 1: 173,270,610 V145A probably benign Het
Prkdc A G 16: 15,698,887 T1042A probably damaging Het
Rasgrf2 A G 13: 91,982,738 S735P probably damaging Het
Serpina3n T A 12: 104,408,972 L101H probably damaging Het
Sipa1l2 T C 8: 125,419,239 D1674G probably damaging Het
Sval3 A G 6: 41,972,521 N98D probably benign Het
Tbc1d16 G A 11: 119,156,075 R449C possibly damaging Het
Tm7sf3 A C 6: 146,610,933 I321S possibly damaging Het
Trappc13 A G 13: 104,148,078 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr60 A G 12: 116,225,963 probably null Het
Wdr76 A G 2: 121,510,822 D116G possibly damaging Het
Zscan18 T C 7: 12,775,348 probably benign Het
Other mutations in Dek
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1438:Dek UTSW 13 47088171 missense probably benign 0.23
R4118:Dek UTSW 13 47088600 missense probably benign 0.01
R5235:Dek UTSW 13 47086479 unclassified probably null
R5847:Dek UTSW 13 47101601 unclassified probably benign
R6285:Dek UTSW 13 47099380 missense probably damaging 1.00
R6736:Dek UTSW 13 47099390 missense probably damaging 1.00
R6903:Dek UTSW 13 47098187 missense possibly damaging 0.83
R7120:Dek UTSW 13 47100183 missense unknown
R7359:Dek UTSW 13 47105589 missense unknown
R7372:Dek UTSW 13 47105577 missense unknown
R7504:Dek UTSW 13 47088035 missense probably damaging 1.00
RF016:Dek UTSW 13 47098186 nonsense probably null
Z1177:Dek UTSW 13 47105626 nonsense probably null
Posted On2014-05-07