Incidental Mutation 'R5365:Dgkd'
ID 423062
Institutional Source Beutler Lab
Gene Symbol Dgkd
Ensembl Gene ENSMUSG00000070738
Gene Name diacylglycerol kinase, delta
Synonyms dgkd-2, DGKdelta
MMRRC Submission 042943-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.845) question?
Stock # R5365 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 87781009-87872902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87863138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 62 (R62C)
Ref Sequence ENSEMBL: ENSMUSP00000139658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027517] [ENSMUST00000189448] [ENSMUST00000190061]
AlphaFold E9PUQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000027517
AA Change: R889C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: R889C

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 damaging
Transcript: ENSMUST00000190061
AA Change: R62C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139658
Gene: ENSMUSG00000070738
AA Change: R62C

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: 98.6%
  • 10x: 97.2%
  • 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,578,629 (GRCm39) E4877G probably damaging Het
Acss3 C T 10: 106,840,589 (GRCm39) A391T probably damaging Het
Bcan T C 3: 87,896,542 (GRCm39) Y718C probably damaging Het
Bnc2 T C 4: 84,329,666 (GRCm39) probably benign Het
Bpnt2 G A 4: 4,776,385 (GRCm39) T190I probably damaging Het
Card6 A G 15: 5,134,888 (GRCm39) V105A possibly damaging Het
Ceacam5 A G 7: 17,493,473 (GRCm39) Y832C probably damaging Het
Ces2e T C 8: 105,653,846 (GRCm39) probably null Het
Cpt1b A T 15: 89,304,310 (GRCm39) I480N possibly damaging Het
Csmd3 T C 15: 47,868,145 (GRCm39) T792A possibly damaging Het
Ctsq T A 13: 61,185,632 (GRCm39) I170F possibly damaging Het
Cyfip2 A G 11: 46,138,457 (GRCm39) S772P probably damaging Het
Cyp3a16 A C 5: 145,389,597 (GRCm39) M256R probably damaging Het
Ephx3 A G 17: 32,408,223 (GRCm39) L67P probably damaging Het
Gpc2 A G 5: 138,273,885 (GRCm39) Y438H probably damaging Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Igkv9-120 T C 6: 68,027,433 (GRCm39) S116P probably benign Het
Itgal A G 7: 126,904,522 (GRCm39) I332V probably damaging Het
Lrit1 A G 14: 36,784,099 (GRCm39) T476A probably benign Het
Lrp1b T C 2: 40,537,137 (GRCm39) H50R possibly damaging Het
Marchf7 T C 2: 60,064,258 (GRCm39) V178A possibly damaging Het
Mbtps2 G A X: 156,351,295 (GRCm39) T157M possibly damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mill2 T C 7: 18,592,339 (GRCm39) V320A probably benign Het
Mtor G A 4: 148,634,587 (GRCm39) V2403M probably damaging Het
Nectin3 T A 16: 46,284,469 (GRCm39) K71* probably null Het
Or2g25 T A 17: 37,970,586 (GRCm39) I213F probably damaging Het
Otof T C 5: 30,539,144 (GRCm39) Y1090C probably damaging Het
Pigf A T 17: 87,331,136 (GRCm39) V62E possibly damaging Het
Pla1a A G 16: 38,237,569 (GRCm39) L43P probably benign Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Sbno1 TCCC TCC 5: 124,519,929 (GRCm39) probably null Het
Tgm4 A C 9: 122,895,866 (GRCm39) K223N probably damaging Het
Ttn G T 2: 76,744,990 (GRCm39) A5353E probably damaging Het
Ywhaq T C 12: 21,446,389 (GRCm39) E159G possibly damaging Het
Zdhhc12 A G 2: 29,983,521 (GRCm39) V27A 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
R5334:Dgkd UTSW 1 87,865,989 (GRCm39) critical splice donor site probably null
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'- TGTCTGTCTCACCAGAACCC -3'
(R):5'- TCTACCTCAGCAAGACTCAGAG -3'

Sequencing Primer
(F):5'- CCCCAGAACAGGAAGCAGAG -3'
(R):5'- ACTCAGAGCACTCAGTGGG -3'
Posted On 2016-08-04