Incidental Mutation 'IGL02076:Dapk3'
ID 185984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dapk3
Ensembl Gene ENSMUSG00000034974
Gene Name death-associated protein kinase 3
Synonyms ZIP kinase
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02076
Quality Score
Status
Chromosome 10
Chromosomal Location 81018839-81029031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81026131 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O54784
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 damaging
Transcript: ENSMUST00000219133
AA Change: K141E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220076
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: ENSMUST00000219329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219944
Predicted Effect probably benign
Transcript: ENSMUST00000218227
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: 8,186,900 (GRCm39) Y407C probably damaging Het
Capn5 T A 7: 97,780,950 (GRCm39) K276* probably null Het
Cct4 T C 11: 22,952,394 (GRCm39) V495A probably damaging Het
Dnah2 T C 11: 69,313,385 (GRCm39) N4264S probably damaging Het
Dok1 A G 6: 83,009,812 (GRCm39) L99P probably damaging Het
Ebf3 A G 7: 136,833,030 (GRCm39) V215A possibly damaging Het
Efnb2 A G 8: 8,710,488 (GRCm39) S43P probably benign Het
Jhy G A 9: 40,828,674 (GRCm39) Q411* probably null Het
Krt73 G A 15: 101,708,370 (GRCm39) T229I probably damaging Het
Mroh8 A G 2: 157,113,882 (GRCm39) probably null Het
Olfm1 A G 2: 28,112,637 (GRCm39) T223A probably damaging Het
Oprk1 T A 1: 5,672,512 (GRCm39) D216E probably damaging Het
Or4b1d T A 2: 89,969,159 (GRCm39) E108V probably damaging Het
Or8g23 A G 9: 38,971,881 (GRCm39) L27P probably damaging Het
Pim1 T A 17: 29,712,777 (GRCm39) I230N probably damaging Het
Ppm1f A C 16: 16,732,035 (GRCm39) T162P possibly damaging Het
Rbbp8 T C 18: 11,838,876 (GRCm39) Y186H probably damaging Het
Sema4a C T 3: 88,357,829 (GRCm39) R225H probably damaging Het
Slc15a2 A C 16: 36,582,743 (GRCm39) F215C probably damaging Het
Slc25a1 A G 16: 17,745,490 (GRCm39) C41R possibly damaging Het
Stil C A 4: 114,880,834 (GRCm39) H459Q probably benign Het
Tbc1d32 A G 10: 55,964,499 (GRCm39) I900T possibly damaging Het
Tmem33 T C 5: 67,443,446 (GRCm39) F208L probably damaging Het
Utp25 T C 1: 192,812,367 (GRCm39) H31R probably damaging Het
Vmn2r72 A G 7: 85,387,575 (GRCm39) V663A probably damaging Het
Other mutations in Dapk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Dapk3 APN 10 81,019,910 (GRCm39) critical splice donor site probably null
IGL02329:Dapk3 APN 10 81,025,999 (GRCm39) missense probably benign 0.42
IGL02515:Dapk3 APN 10 81,025,763 (GRCm39) splice site probably benign
IGL03002:Dapk3 APN 10 81,026,437 (GRCm39) nonsense probably null
R0131:Dapk3 UTSW 10 81,028,141 (GRCm39) missense probably benign 0.05
R0727:Dapk3 UTSW 10 81,026,096 (GRCm39) missense probably damaging 1.00
R1628:Dapk3 UTSW 10 81,027,643 (GRCm39) missense possibly damaging 0.79
R5084:Dapk3 UTSW 10 81,026,152 (GRCm39) splice site probably null
R5222:Dapk3 UTSW 10 81,028,294 (GRCm39) missense probably damaging 0.98
R6112:Dapk3 UTSW 10 81,019,864 (GRCm39) missense probably benign 0.43
R6799:Dapk3 UTSW 10 81,026,096 (GRCm39) missense probably damaging 1.00
R6884:Dapk3 UTSW 10 81,027,588 (GRCm39) splice site probably null
R8683:Dapk3 UTSW 10 81,026,069 (GRCm39) missense probably damaging 1.00
R9016:Dapk3 UTSW 10 81,028,266 (GRCm39) missense probably damaging 0.96
R9453:Dapk3 UTSW 10 81,025,825 (GRCm39) missense probably damaging 1.00
R9745:Dapk3 UTSW 10 81,028,594 (GRCm39) missense unknown
Z1177:Dapk3 UTSW 10 81,027,603 (GRCm39) frame shift probably null
Posted On 2014-05-07