Incidental Mutation 'IGL01529:Dgkd'
ID278557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgkd
Ensembl Gene ENSMUSG00000070738
Gene Namediacylglycerol kinase, delta
Synonymsdgkd-2, DGKdelta, AI841987, D330025K09
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.580) question?
Stock #IGL01529
Quality Score
Status
Chromosome1
Chromosomal Location87853287-87945180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87880411 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 67 (F67S)
Ref Sequence ENSEMBL: ENSMUSP00000027517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027517]
Predicted Effect probably damaging
Transcript: ENSMUST00000027517
AA Change: F67S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: F67S

DomainStartEndE-ValueType
low complexity region 2 36 N/A INTRINSIC
PH 54 148 1.7e-16 SMART
C1 164 213 2.48e-15 SMART
low complexity region 221 232 N/A INTRINSIC
C1 236 286 8.56e-10 SMART
DAGKc 321 446 9.44e-62 SMART
low complexity region 691 710 N/A INTRINSIC
DAGKa 765 922 1.25e-98 SMART
low complexity region 1128 1139 N/A INTRINSIC
SAM 1148 1214 2.16e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190243
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 cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are born with open eyelids and reduced body size, develop respiratory distress and die within 24 hrs of birth. Half of mice homozygous for a hypomorphic gene trap allele exhibit abnormal epileptic discharges and seizureswhile 9% of aging homozygotes develop tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 84,151,414 I144N possibly damaging Het
Adamts19 T A 18: 58,963,463 H588Q probably damaging Het
Ankrd2 A G 19: 42,039,910 K46E probably damaging Het
Arhgap10 A C 8: 77,346,291 L513V possibly damaging Het
Arhgef12 C A 9: 42,990,055 R817L probably damaging Het
Asxl3 T A 18: 22,517,655 N900K probably damaging Het
Atp9b A T 18: 80,844,611 probably benign Het
Cdc27 T C 11: 104,507,216 N773D probably damaging Het
Cep97 A G 16: 55,930,618 probably benign Het
Ddx58 G A 4: 40,225,685 H194Y probably benign Het
Dolk T C 2: 30,285,737 T99A probably benign Het
Egfr A T 11: 16,863,014 R165W probably benign Het
Fat2 T A 11: 55,282,156 D2577V probably damaging Het
Hsph1 T C 5: 149,636,034 I15V probably benign Het
Idh2 T C 7: 80,097,945 T276A probably benign Het
Jag1 T C 2: 137,084,977 Y954C probably damaging Het
Kat2a A T 11: 100,711,909 W118R probably damaging Het
Kcnh6 G T 11: 106,020,696 R636L probably benign Het
Klk1b16 G T 7: 44,140,739 K144N probably benign Het
Lrrk2 T A 15: 91,812,313 L2435I possibly damaging Het
Ltbp3 A G 19: 5,747,839 D502G probably benign Het
Ltn1 A T 16: 87,381,471 N1623K probably benign Het
Mcm10 C A 2: 5,008,628 E64D probably benign Het
Med13l A G 5: 118,742,335 N1164S probably damaging Het
Myo1a A G 10: 127,720,660 N1025D probably benign Het
Olfr164 A T 16: 19,286,700 D14E probably benign Het
Olfr944 C T 9: 39,218,131 T258I probably benign Het
Pdcd11 A G 19: 47,109,629 N785D probably benign Het
Psmd8 A T 7: 29,179,151 I81N probably damaging Het
Ryr1 C T 7: 29,075,227 G2330R probably damaging Het
Scrib T C 15: 76,049,235 T80A possibly damaging Het
Sergef A T 7: 46,443,518 W356R probably damaging Het
Slc22a19 T C 19: 7,682,935 N370S probably damaging Het
Syde1 A G 10: 78,590,181 S51P probably benign Het
Umodl1 A T 17: 30,996,259 D1019V possibly damaging Het
Vmn2r45 A G 7: 8,483,494 M265T probably benign Het
Other mutations in Dgkd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Dgkd APN 1 87880411 missense probably damaging 1.00
IGL01627:Dgkd APN 1 87880428 missense probably damaging 1.00
IGL01720:Dgkd APN 1 87936765 missense probably damaging 1.00
IGL01915:Dgkd APN 1 87926058 missense possibly damaging 0.86
IGL01941:Dgkd APN 1 87924559 missense probably damaging 0.99
IGL01951:Dgkd APN 1 87916916 missense probably damaging 1.00
IGL02244:Dgkd APN 1 87915141 missense probably benign 0.27
IGL02581:Dgkd APN 1 87918002 splice site probably benign
IGL02852:Dgkd APN 1 87935413 missense probably damaging 1.00
IGL02893:Dgkd APN 1 87915208 splice site probably benign
IGL03367:Dgkd APN 1 87940308 critical splice donor site probably null
R0014:Dgkd UTSW 1 87881881 missense probably damaging 1.00
R0016:Dgkd UTSW 1 87917952 missense probably benign 0.02
R0219:Dgkd UTSW 1 87938274 splice site probably benign
R0496:Dgkd UTSW 1 87936900 missense probably null 0.83
R0559:Dgkd UTSW 1 87915104 missense probably damaging 1.00
R0591:Dgkd UTSW 1 87915104 missense probably damaging 1.00
R1270:Dgkd UTSW 1 87934125 missense probably damaging 0.96
R1599:Dgkd UTSW 1 87881886 missense possibly damaging 0.58
R1658:Dgkd UTSW 1 87926268 missense probably damaging 1.00
R1745:Dgkd UTSW 1 87932044 critical splice donor site probably null
R1959:Dgkd UTSW 1 87929827 missense possibly damaging 0.47
R1960:Dgkd UTSW 1 87929827 missense possibly damaging 0.47
R2044:Dgkd UTSW 1 87927691 missense probably benign
R2148:Dgkd UTSW 1 87881921 missense probably damaging 1.00
R2232:Dgkd UTSW 1 87929742 missense probably benign 0.05
R2266:Dgkd UTSW 1 87927818 unclassified probably benign
R3774:Dgkd UTSW 1 87936300 missense probably damaging 1.00
R4004:Dgkd UTSW 1 87935423 missense possibly damaging 0.56
R4005:Dgkd UTSW 1 87935423 missense possibly damaging 0.56
R4133:Dgkd UTSW 1 87941501 critical splice donor site probably null
R4235:Dgkd UTSW 1 87931982 nonsense probably null
R4644:Dgkd UTSW 1 87936294 missense probably damaging 1.00
R4747:Dgkd UTSW 1 87934167 missense probably damaging 1.00
R4864:Dgkd UTSW 1 87916838 missense possibly damaging 0.94
R5334:Dgkd UTSW 1 87938267 critical splice donor site probably null
R5365:Dgkd UTSW 1 87935416 missense probably damaging 1.00
R5495:Dgkd UTSW 1 87926872 missense probably damaging 1.00
R5514:Dgkd UTSW 1 87934110 missense probably damaging 1.00
R5729:Dgkd UTSW 1 87936332 nonsense probably null
R5766:Dgkd UTSW 1 87880449 nonsense probably null
R6133:Dgkd UTSW 1 87938240 missense possibly damaging 0.93
R6137:Dgkd UTSW 1 87936381 missense possibly damaging 0.48
R6198:Dgkd UTSW 1 87924208 missense probably damaging 1.00
R6297:Dgkd UTSW 1 87926144 missense possibly damaging 0.94
R6577:Dgkd UTSW 1 87940240 missense probably damaging 1.00
R6846:Dgkd UTSW 1 87925691 splice site probably null
R6905:Dgkd UTSW 1 87935375 missense probably damaging 1.00
R7369:Dgkd UTSW 1 87921622 missense probably damaging 1.00
R7763:Dgkd UTSW 1 87926949 missense probably benign
Z1176:Dgkd UTSW 1 87927810 missense probably benign 0.05
Z1177:Dgkd UTSW 1 87916886 missense probably damaging 0.99
Posted On2015-04-16