Incidental Mutation 'IGL02244:Dgkd'
ID 286089
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 # IGL02244
Quality Score
Status
Chromosome 1
Chromosomal Location 87781009-87872902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87842863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 130 (N130K)
Ref Sequence ENSEMBL: ENSMUSP00000027517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027517]
AlphaFold E9PUQ8
Predicted Effect probably benign
Transcript: ENSMUST00000027517
AA Change: N130K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: N130K

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly 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
IGL01951:Dgkd APN 1 87,844,638 (GRCm39) missense probably damaging 1.00
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 2015-04-16