Incidental Mutation 'R5334:Dgkd'
ID 457857
Institutional Source Beutler Lab
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 # R5334 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 87781009-87872902 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 87865989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027517] [ENSMUST00000189448] [ENSMUST00000190061]
AlphaFold E9PUQ8
Predicted Effect probably null
Transcript: ENSMUST00000027517
SMART Domains Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738

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 probably benign
Transcript: ENSMUST00000185260
Predicted Effect probably benign
Transcript: ENSMUST00000189448
SMART Domains Protein: ENSMUSP00000139626
Gene: ENSMUSG00000070738

DomainStartEndE-ValueType
low complexity region 82 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189726
Predicted Effect probably null
Transcript: ENSMUST00000190061
SMART Domains Protein: ENSMUSP00000139658
Gene: ENSMUSG00000070738

DomainStartEndE-ValueType
DAGKa 1 95 7.6e-26 SMART
Blast:DAGKa 119 188 1e-23 BLAST
low complexity region 301 312 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ap4s1 C T 12: 51,785,454 (GRCm39) S142L probably benign Het
Apol11a A G 15: 77,400,953 (GRCm39) T147A probably benign Het
Aqp9 T C 9: 71,030,292 (GRCm39) probably null Het
Arhgap25 T A 6: 87,440,243 (GRCm39) N468I possibly damaging Het
Arhgef2 T A 3: 88,553,636 (GRCm39) S924R probably damaging Het
Atad3a A T 4: 155,840,146 (GRCm39) L144Q probably damaging Het
Ccbe1 T C 18: 66,216,316 (GRCm39) I136V probably damaging Het
Col24a1 C A 3: 145,167,280 (GRCm39) P1119Q possibly damaging Het
Dnah7a A G 1: 53,542,805 (GRCm39) I2455T probably benign Het
Dock2 T C 11: 34,178,643 (GRCm39) T1795A probably benign Het
Dpp6 A T 5: 27,914,538 (GRCm39) E541V probably benign Het
Edem1 T C 6: 108,825,793 (GRCm39) probably null Het
Fbxo41 A G 6: 85,455,465 (GRCm39) V573A probably damaging Het
Fech A C 18: 64,597,191 (GRCm39) V256G probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gal3st4 T G 5: 138,263,983 (GRCm39) K339Q probably benign Het
Gpr158 T A 2: 21,832,316 (GRCm39) S1139T probably benign Het
Gpr180 A T 14: 118,397,468 (GRCm39) S321C probably damaging Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
Grin2c T G 11: 115,146,881 (GRCm39) N438T possibly damaging Het
Hcn2 T C 10: 79,562,125 (GRCm39) S374P probably damaging Het
Hmcn1 T A 1: 150,631,123 (GRCm39) I892F probably damaging Het
Ifi207 C T 1: 173,555,097 (GRCm39) V869I probably benign Het
Itgad T C 7: 127,788,458 (GRCm39) Y390H probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj15 A G 16: 95,097,508 (GRCm39) K377E probably damaging Het
Kcnq3 A G 15: 65,897,073 (GRCm39) S276P probably damaging Het
Klhl26 T C 8: 70,904,968 (GRCm39) D280G probably damaging Het
Lmnb2 C T 10: 80,739,791 (GRCm39) V376I probably benign Het
Lrrc37 T C 11: 103,504,699 (GRCm39) Q2423R probably benign Het
Mepce T A 5: 137,784,889 (GRCm39) R29S probably benign Het
Mlh3 A G 12: 85,292,535 (GRCm39) probably null Het
Mlip T A 9: 77,150,958 (GRCm39) T33S probably damaging Het
Msantd5f6 T A 4: 73,321,754 (GRCm39) M94L probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ncapg2 T C 12: 116,390,257 (GRCm39) I402T probably damaging Het
Or2aj6 C G 16: 19,443,241 (GRCm39) G203A probably benign Het
Or5m13b T C 2: 85,754,058 (GRCm39) Y149H probably damaging Het
Pcsk5 T C 19: 17,439,215 (GRCm39) D1301G probably benign Het
Pilrb1 T C 5: 137,853,165 (GRCm39) M213V probably benign Het
Plxdc1 T C 11: 97,846,931 (GRCm39) T163A possibly damaging Het
Pnpla2 T C 7: 141,039,406 (GRCm39) L373P probably damaging Het
Prickle2 A G 6: 92,402,665 (GRCm39) Y52H probably damaging Het
Rnf220 A G 4: 117,129,548 (GRCm39) C294R probably damaging Het
Slc12a1 A G 2: 125,059,809 (GRCm39) D903G probably damaging Het
Slc34a1 T C 13: 24,003,034 (GRCm39) F228S probably damaging Het
Sptbn1 T C 11: 30,087,364 (GRCm39) E1025G possibly damaging Het
Sult1c2 T G 17: 54,271,758 (GRCm39) D143A probably damaging Het
Taar1 T G 10: 23,796,443 (GRCm39) I47R probably damaging Het
Tctn3 G T 19: 40,591,266 (GRCm39) Q514K probably benign Het
Tg T C 15: 66,549,904 (GRCm39) F222S probably damaging Het
Tmem236 C A 2: 14,223,871 (GRCm39) T220K possibly damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Vmn1r237 T C 17: 21,534,942 (GRCm39) F222L probably benign Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zfp85 T C 13: 67,899,803 (GRCm39) Y52C 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
IGL01951:Dgkd APN 1 87,844,638 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTGGCAAAGCTACTATCTCCAC -3'
(R):5'- AACTCACCAGGGCCATCTTC -3'

Sequencing Primer
(F):5'- AAAGCTACTATCTCCACTGGTGTG -3'
(R):5'- AGGGCCATCTTCCCAGC -3'
Posted On 2017-02-16