Incidental Mutation 'IGL02076:Dapk3'
ID185984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dapk3
Ensembl Gene ENSMUSG00000034974
Gene Namedeath-associated protein kinase 3
SynonymsZIP kinase
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02076
Quality Score
Status
Chromosome10
Chromosomal Location81183005-81193197 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81190297 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 141 (K141E)
Ref Sequence ENSEMBL: ENSMUSP00000151297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047665] [ENSMUST00000178422] [ENSMUST00000218157] [ENSMUST00000219133] [ENSMUST00000219850]
Predicted Effect probably damaging
Transcript: ENSMUST00000047665
AA Change: K141E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035962
Gene: ENSMUSG00000034974
AA Change: K141E

DomainStartEndE-ValueType
S_TKc 13 275 1.93e-98 SMART
low complexity region 288 299 N/A INTRINSIC
low complexity region 331 347 N/A INTRINSIC
low complexity region 349 411 N/A INTRINSIC
coiled coil region 419 444 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150782
Predicted Effect probably damaging
Transcript: ENSMUST00000178422
AA Change: K141E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137333
Gene: ENSMUSG00000034974
AA Change: K141E

DomainStartEndE-ValueType
S_TKc 13 275 1.93e-98 SMART
low complexity region 288 299 N/A INTRINSIC
low complexity region 331 347 N/A INTRINSIC
low complexity region 349 411 N/A INTRINSIC
coiled coil region 419 444 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217936
Predicted Effect probably damaging
Transcript: ENSMUST00000218157
AA Change: K141E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218698
Predicted Effect probably damaging
Transcript: ENSMUST00000219133
AA Change: K141E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219329
Predicted Effect probably damaging
Transcript: ENSMUST00000219850
AA Change: K141E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220076
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit embryonic lethality after blastocyst implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,136,900 Y407C probably damaging Het
Capn5 T A 7: 98,131,743 K276* probably null Het
Cct4 T C 11: 23,002,394 V495A probably damaging Het
Diexf T C 1: 193,130,059 H31R probably damaging Het
Dnah2 T C 11: 69,422,559 N4264S probably damaging Het
Dok1 A G 6: 83,032,831 L99P probably damaging Het
Ebf3 A G 7: 137,231,301 V215A possibly damaging Het
Efnb2 A G 8: 8,660,488 S43P probably benign Het
Jhy G A 9: 40,917,378 Q411* probably null Het
Krt73 G A 15: 101,799,935 T229I probably damaging Het
Mroh8 A G 2: 157,271,962 probably null Het
Olfm1 A G 2: 28,222,625 T223A probably damaging Het
Olfr32 T A 2: 90,138,815 E108V probably damaging Het
Olfr937 A G 9: 39,060,585 L27P probably damaging Het
Oprk1 T A 1: 5,602,289 D216E probably damaging Het
Pim1 T A 17: 29,493,803 I230N probably damaging Het
Ppm1f A C 16: 16,914,171 T162P possibly damaging Het
Rbbp8 T C 18: 11,705,819 Y186H probably damaging Het
Sema4a C T 3: 88,450,522 R225H probably damaging Het
Slc15a2 A C 16: 36,762,381 F215C probably damaging Het
Slc25a1 A G 16: 17,927,626 C41R possibly damaging Het
Stil C A 4: 115,023,637 H459Q probably benign Het
Tbc1d32 A G 10: 56,088,403 I900T possibly damaging Het
Tmem33 T C 5: 67,286,103 F208L probably damaging Het
Vmn2r72 A G 7: 85,738,367 V663A probably damaging Het
Other mutations in Dapk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Dapk3 APN 10 81184076 critical splice donor site probably null
IGL02329:Dapk3 APN 10 81190165 missense probably benign 0.42
IGL02515:Dapk3 APN 10 81189929 splice site probably benign
IGL03002:Dapk3 APN 10 81190603 nonsense probably null
R0131:Dapk3 UTSW 10 81192307 missense probably benign 0.05
R0727:Dapk3 UTSW 10 81190262 missense probably damaging 1.00
R1628:Dapk3 UTSW 10 81191809 missense possibly damaging 0.79
R5084:Dapk3 UTSW 10 81190318 intron probably null
R5222:Dapk3 UTSW 10 81192460 missense probably damaging 0.98
R6112:Dapk3 UTSW 10 81184030 missense probably benign 0.43
R6799:Dapk3 UTSW 10 81190262 missense probably damaging 1.00
R6884:Dapk3 UTSW 10 81191754 splice site probably null
Z1177:Dapk3 UTSW 10 81191769 frame shift probably null
Posted On2014-05-07