Incidental Mutation 'IGL01951:Dgkd'
ID 181044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgkd
Ensembl Gene ENSMUSG00000070738
Gene Name diacylglycerol kinase, delta
Synonyms dgkd-2, DGKdelta
Accession Numbers
Essential gene? Probably essential (E-score: 0.845) question?
Stock # IGL01951
Quality Score
Status
Chromosome 1
Chromosomal Location 87781009-87872902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87844638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 268 (L268P)
Ref Sequence ENSEMBL: ENSMUSP00000027517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027517]
AlphaFold E9PUQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000027517
AA Change: L268P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: L268P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191589
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,092,865 (GRCm39) I152T probably damaging Het
A2m C T 6: 121,644,149 (GRCm39) T949I possibly damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lin7a G A 10: 107,247,886 (GRCm39) V186I possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Lrp10 C A 14: 54,706,119 (GRCm39) Y436* probably null Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Or6b3 T C 1: 92,438,853 (GRCm39) D299G probably null Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Tpx2 T G 2: 152,726,096 (GRCm39) L354V probably benign Het
Trafd1 G A 5: 121,512,094 (GRCm39) R399C possibly damaging Het
Trem3 C T 17: 48,556,903 (GRCm39) R125W probably damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zbtb6 T C 2: 37,319,343 (GRCm39) E195G probably benign Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G probably damaging Het
Other mutations in Dgkd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Dgkd APN 1 87,808,133 (GRCm39) missense probably damaging 1.00
IGL01531:Dgkd APN 1 87,808,133 (GRCm39) missense probably damaging 1.00
IGL01627:Dgkd APN 1 87,808,150 (GRCm39) missense probably damaging 1.00
IGL01720:Dgkd APN 1 87,864,487 (GRCm39) missense probably damaging 1.00
IGL01915:Dgkd APN 1 87,853,780 (GRCm39) missense possibly damaging 0.86
IGL01941:Dgkd APN 1 87,852,281 (GRCm39) missense probably damaging 0.99
IGL02244:Dgkd APN 1 87,842,863 (GRCm39) missense probably benign 0.27
IGL02581:Dgkd APN 1 87,845,724 (GRCm39) splice site probably benign
IGL02852:Dgkd APN 1 87,863,135 (GRCm39) missense probably damaging 1.00
IGL02893:Dgkd APN 1 87,842,930 (GRCm39) splice site probably benign
IGL03367:Dgkd APN 1 87,868,030 (GRCm39) critical splice donor site probably null
R0014:Dgkd UTSW 1 87,809,603 (GRCm39) missense probably damaging 1.00
R0016:Dgkd UTSW 1 87,845,674 (GRCm39) missense probably benign 0.02
R0219:Dgkd UTSW 1 87,865,996 (GRCm39) splice site probably benign
R0496:Dgkd UTSW 1 87,864,622 (GRCm39) missense probably null 0.83
R0559:Dgkd UTSW 1 87,842,826 (GRCm39) missense probably damaging 1.00
R0591:Dgkd UTSW 1 87,842,826 (GRCm39) missense probably damaging 1.00
R1270:Dgkd UTSW 1 87,861,847 (GRCm39) missense probably damaging 0.96
R1599:Dgkd UTSW 1 87,809,608 (GRCm39) missense possibly damaging 0.58
R1658:Dgkd UTSW 1 87,853,990 (GRCm39) missense probably damaging 1.00
R1745:Dgkd UTSW 1 87,859,766 (GRCm39) critical splice donor site probably null
R1959:Dgkd UTSW 1 87,857,549 (GRCm39) missense possibly damaging 0.47
R1960:Dgkd UTSW 1 87,857,549 (GRCm39) missense possibly damaging 0.47
R2044:Dgkd UTSW 1 87,855,413 (GRCm39) missense probably benign
R2148:Dgkd UTSW 1 87,809,643 (GRCm39) missense probably damaging 1.00
R2232:Dgkd UTSW 1 87,857,464 (GRCm39) missense probably benign 0.05
R2266:Dgkd UTSW 1 87,855,540 (GRCm39) unclassified probably benign
R3774:Dgkd UTSW 1 87,864,022 (GRCm39) missense probably damaging 1.00
R4004:Dgkd UTSW 1 87,863,145 (GRCm39) missense possibly damaging 0.56
R4005:Dgkd UTSW 1 87,863,145 (GRCm39) missense possibly damaging 0.56
R4133:Dgkd UTSW 1 87,869,223 (GRCm39) critical splice donor site probably null
R4235:Dgkd UTSW 1 87,859,704 (GRCm39) nonsense probably null
R4644:Dgkd UTSW 1 87,864,016 (GRCm39) missense probably damaging 1.00
R4747:Dgkd UTSW 1 87,861,889 (GRCm39) missense probably damaging 1.00
R4864:Dgkd UTSW 1 87,844,560 (GRCm39) missense possibly damaging 0.94
R5334:Dgkd UTSW 1 87,865,989 (GRCm39) critical splice donor site probably null
R5365:Dgkd UTSW 1 87,863,138 (GRCm39) missense probably damaging 1.00
R5495:Dgkd UTSW 1 87,854,594 (GRCm39) missense probably damaging 1.00
R5514:Dgkd UTSW 1 87,861,832 (GRCm39) missense probably damaging 1.00
R5729:Dgkd UTSW 1 87,864,054 (GRCm39) nonsense probably null
R5766:Dgkd UTSW 1 87,808,171 (GRCm39) nonsense probably null
R6133:Dgkd UTSW 1 87,865,962 (GRCm39) missense possibly damaging 0.93
R6137:Dgkd UTSW 1 87,864,103 (GRCm39) missense possibly damaging 0.48
R6198:Dgkd UTSW 1 87,851,930 (GRCm39) missense probably damaging 1.00
R6297:Dgkd UTSW 1 87,853,866 (GRCm39) missense possibly damaging 0.94
R6577:Dgkd UTSW 1 87,867,962 (GRCm39) missense probably damaging 1.00
R6846:Dgkd UTSW 1 87,853,413 (GRCm39) splice site probably null
R6905:Dgkd UTSW 1 87,863,097 (GRCm39) missense probably damaging 1.00
R7369:Dgkd UTSW 1 87,849,344 (GRCm39) missense probably damaging 1.00
R7763:Dgkd UTSW 1 87,854,671 (GRCm39) missense probably benign
R7921:Dgkd UTSW 1 87,851,806 (GRCm39) missense probably damaging 0.98
R8087:Dgkd UTSW 1 87,844,569 (GRCm39) missense probably damaging 1.00
R8119:Dgkd UTSW 1 87,845,689 (GRCm39) missense possibly damaging 0.78
R8731:Dgkd UTSW 1 87,844,535 (GRCm39) missense possibly damaging 0.81
R8813:Dgkd UTSW 1 87,843,266 (GRCm39) missense probably damaging 0.99
R8849:Dgkd UTSW 1 87,846,365 (GRCm39) missense probably damaging 0.99
R8906:Dgkd UTSW 1 87,869,157 (GRCm39) missense probably damaging 0.97
R9496:Dgkd UTSW 1 87,857,464 (GRCm39) missense probably benign 0.05
R9743:Dgkd UTSW 1 87,861,850 (GRCm39) missense
Z1176:Dgkd UTSW 1 87,855,532 (GRCm39) missense probably benign 0.05
Z1177:Dgkd UTSW 1 87,844,608 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07