Incidental Mutation 'R4133:Dgkd'
ID 314721
Institutional Source Beutler Lab
Gene Symbol Dgkd
Ensembl Gene ENSMUSG00000070738
Gene Name diacylglycerol kinase, delta
Synonyms dgkd-2, DGKdelta, AI841987, D330025K09
MMRRC Submission 041637-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.798) question?
Stock # R4133 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 87853287-87945180 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 87941501 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027517] [ENSMUST00000040783] [ENSMUST00000187758] [ENSMUST00000188332] [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: ENSMUST00000040783
SMART Domains Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501

DomainStartEndE-ValueType
Pfam:UCH 40 344 1.1e-31 PFAM
Pfam:UCH_1 41 320 1.2e-20 PFAM
low complexity region 641 650 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185260
Predicted Effect probably benign
Transcript: ENSMUST00000187758
SMART Domains Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501

DomainStartEndE-ValueType
Pfam:UCH 40 346 8.7e-41 PFAM
Pfam:UCH_1 41 319 2.4e-22 PFAM
low complexity region 641 650 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188332
SMART Domains Protein: ENSMUSP00000140574
Gene: ENSMUSG00000005501

DomainStartEndE-ValueType
Pfam:UCH 40 70 5.9e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189409
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 benign
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
Meta Mutation Damage Score 0.9504 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (77/79)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700036A12Rik T A 9: 60,769,998 (GRCm38) noncoding transcript Het
Aldh3b1 A G 19: 3,920,808 (GRCm38) I184T probably damaging Het
Arhgap42 C T 9: 9,011,299 (GRCm38) probably benign Het
Arhgef4 A G 1: 34,806,104 (GRCm38) D1463G probably damaging Het
Arpc5 A G 1: 152,768,871 (GRCm38) T52A probably benign Het
Asb6 A G 2: 30,828,235 (GRCm38) probably benign Het
Ash1l T C 3: 88,982,260 (GRCm38) V482A probably benign Het
Bop1 T C 15: 76,454,335 (GRCm38) N469S probably benign Het
Btaf1 T A 19: 36,961,738 (GRCm38) N266K probably benign Het
Btla T C 16: 45,239,298 (GRCm38) Y122H probably damaging Het
Cacna1g A G 11: 94,432,544 (GRCm38) M1278T probably damaging Het
Cdc42bpb A G 12: 111,321,542 (GRCm38) S524P probably benign Het
Cep78 A G 19: 15,969,155 (GRCm38) S438P probably damaging Het
Clca4a T G 3: 144,969,352 (GRCm38) E171D probably benign Het
Cldn6 A T 17: 23,681,493 (GRCm38) I144F probably damaging Het
Cpd G A 11: 76,814,818 (GRCm38) Q363* probably null Het
Cpn1 G A 19: 43,986,284 (GRCm38) P2L possibly damaging Het
Ddx31 A G 2: 28,858,852 (GRCm38) D264G probably damaging Het
Ddx39b C T 17: 35,253,089 (GRCm38) S368L probably damaging Het
Ddx60 A G 8: 61,972,220 (GRCm38) K681E probably damaging Het
Dennd1c A C 17: 57,076,980 (GRCm38) W15G possibly damaging Het
Dnah7c G T 1: 46,665,990 (GRCm38) A2388S probably benign Het
Etv4 C A 11: 101,770,498 (GRCm38) K442N probably damaging Het
Fam234a T C 17: 26,213,558 (GRCm38) D539G probably damaging Het
Fam71a A T 1: 191,163,008 (GRCm38) N479K probably benign Het
Fancm A G 12: 65,120,530 (GRCm38) T1538A probably benign Het
Fbn2 A T 18: 58,095,962 (GRCm38) N725K possibly damaging Het
Fcer2a T A 8: 3,691,130 (GRCm38) N4I possibly damaging Het
Fgd5 T C 6: 92,069,437 (GRCm38) V1229A probably damaging Het
Gm5471 A T 15: 44,971,901 (GRCm38) noncoding transcript Het
Gm5478 T A 15: 101,644,645 (GRCm38) I331F probably damaging Het
Gm6729 C A 10: 86,541,166 (GRCm38) noncoding transcript Het
Hectd4 G T 5: 121,277,834 (GRCm38) probably null Het
Hspb3 A C 13: 113,663,491 (GRCm38) M1R probably null Het
Igkv10-95 T C 6: 68,680,617 (GRCm38) V19A probably damaging Het
Il1rap A G 16: 26,722,886 (GRCm38) S626G probably benign Het
Ints9 A G 14: 64,990,554 (GRCm38) H103R probably benign Het
Itga4 T A 2: 79,322,652 (GRCm38) D894E probably damaging Het
Khsrp T C 17: 57,025,605 (GRCm38) H225R probably benign Het
Lama1 A T 17: 67,812,486 (GRCm38) I2653F probably damaging Het
Lama1 T C 17: 67,750,655 (GRCm38) Y575H probably damaging Het
Map4k5 A T 12: 69,845,723 (GRCm38) L144Q probably damaging Het
Mcm5 A G 8: 75,115,854 (GRCm38) Y252C probably damaging Het
Mmgt2 A G 11: 62,665,051 (GRCm38) E75G probably damaging Het
Mroh2a A T 1: 88,254,965 (GRCm38) N1205I possibly damaging Het
Nckap5 A G 1: 126,222,706 (GRCm38) V162A probably benign Het
Nr3c2 T C 8: 76,909,749 (GRCm38) I493T probably damaging Het
Olfr1411 T C 1: 92,596,743 (GRCm38) F75L probably benign Het
Olfr325 A T 11: 58,581,075 (GRCm38) Y77F probably damaging Het
Olfr698 A C 7: 106,753,079 (GRCm38) L103R probably damaging Het
Papola A G 12: 105,799,658 (GRCm38) T6A possibly damaging Het
Ppp1cc G A 5: 122,168,226 (GRCm38) R36Q probably benign Het
Ptpro G T 6: 137,420,372 (GRCm38) W81C probably damaging Het
Rasgrf2 A G 13: 91,982,654 (GRCm38) S162P possibly damaging Het
Rpusd2 T C 2: 119,038,715 (GRCm38) S540P probably damaging Het
Scn5a T A 9: 119,486,372 (GRCm38) T1757S probably damaging Het
Setbp1 T C 18: 78,856,991 (GRCm38) I1154V probably benign Het
Sirt1 T C 10: 63,335,659 (GRCm38) I209V probably null Het
Slco6c1 T A 1: 97,081,493 (GRCm38) I406L probably benign Het
Smc2 A G 4: 52,450,947 (GRCm38) E255G probably damaging Het
Snap91 C A 9: 86,777,049 (GRCm38) G477V probably damaging Het
Speg A G 1: 75,427,904 (GRCm38) Q2780R probably benign Het
Ssh2 A G 11: 77,421,269 (GRCm38) Y196C probably damaging Het
Ssxb9 A T X: 8,369,606 (GRCm38) T18S probably damaging Het
Stxbp5l T C 16: 37,208,119 (GRCm38) I527M possibly damaging Het
Tex10 T C 4: 48,468,968 (GRCm38) Y69C probably damaging Het
Theg T C 10: 79,580,050 (GRCm38) T236A probably damaging Het
Thoc3 T C 13: 54,468,548 (GRCm38) D87G probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trps1 T C 15: 50,831,387 (GRCm38) K213R probably damaging Het
Uggt1 A T 1: 36,158,159 (GRCm38) L1221Q probably damaging Het
Vmn2r3 T A 3: 64,275,717 (GRCm38) Y187F probably damaging Het
Washc2 G A 6: 116,258,930 (GRCm38) E1121K probably damaging Het
Zfx T C X: 94,080,858 (GRCm38) N360D probably damaging Het
Znhit3 A G 11: 84,916,313 (GRCm38) V10A probably benign Het
Other mutations in Dgkd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Dgkd APN 1 87,880,411 (GRCm38) missense probably damaging 1.00
IGL01531:Dgkd APN 1 87,880,411 (GRCm38) missense probably damaging 1.00
IGL01627:Dgkd APN 1 87,880,428 (GRCm38) missense probably damaging 1.00
IGL01720:Dgkd APN 1 87,936,765 (GRCm38) missense probably damaging 1.00
IGL01915:Dgkd APN 1 87,926,058 (GRCm38) missense possibly damaging 0.86
IGL01941:Dgkd APN 1 87,924,559 (GRCm38) missense probably damaging 0.99
IGL01951:Dgkd APN 1 87,916,916 (GRCm38) missense probably damaging 1.00
IGL02244:Dgkd APN 1 87,915,141 (GRCm38) missense probably benign 0.27
IGL02581:Dgkd APN 1 87,918,002 (GRCm38) splice site probably benign
IGL02852:Dgkd APN 1 87,935,413 (GRCm38) missense probably damaging 1.00
IGL02893:Dgkd APN 1 87,915,208 (GRCm38) splice site probably benign
IGL03367:Dgkd APN 1 87,940,308 (GRCm38) critical splice donor site probably null
R0014:Dgkd UTSW 1 87,881,881 (GRCm38) missense probably damaging 1.00
R0016:Dgkd UTSW 1 87,917,952 (GRCm38) missense probably benign 0.02
R0219:Dgkd UTSW 1 87,938,274 (GRCm38) splice site probably benign
R0496:Dgkd UTSW 1 87,936,900 (GRCm38) missense probably null 0.83
R0559:Dgkd UTSW 1 87,915,104 (GRCm38) missense probably damaging 1.00
R0591:Dgkd UTSW 1 87,915,104 (GRCm38) missense probably damaging 1.00
R1270:Dgkd UTSW 1 87,934,125 (GRCm38) missense probably damaging 0.96
R1599:Dgkd UTSW 1 87,881,886 (GRCm38) missense possibly damaging 0.58
R1658:Dgkd UTSW 1 87,926,268 (GRCm38) missense probably damaging 1.00
R1745:Dgkd UTSW 1 87,932,044 (GRCm38) critical splice donor site probably null
R1959:Dgkd UTSW 1 87,929,827 (GRCm38) missense possibly damaging 0.47
R1960:Dgkd UTSW 1 87,929,827 (GRCm38) missense possibly damaging 0.47
R2044:Dgkd UTSW 1 87,927,691 (GRCm38) missense probably benign
R2148:Dgkd UTSW 1 87,881,921 (GRCm38) missense probably damaging 1.00
R2232:Dgkd UTSW 1 87,929,742 (GRCm38) missense probably benign 0.05
R2266:Dgkd UTSW 1 87,927,818 (GRCm38) unclassified probably benign
R3774:Dgkd UTSW 1 87,936,300 (GRCm38) missense probably damaging 1.00
R4004:Dgkd UTSW 1 87,935,423 (GRCm38) missense possibly damaging 0.56
R4005:Dgkd UTSW 1 87,935,423 (GRCm38) missense possibly damaging 0.56
R4235:Dgkd UTSW 1 87,931,982 (GRCm38) nonsense probably null
R4644:Dgkd UTSW 1 87,936,294 (GRCm38) missense probably damaging 1.00
R4747:Dgkd UTSW 1 87,934,167 (GRCm38) missense probably damaging 1.00
R4864:Dgkd UTSW 1 87,916,838 (GRCm38) missense possibly damaging 0.94
R5334:Dgkd UTSW 1 87,938,267 (GRCm38) critical splice donor site probably null
R5365:Dgkd UTSW 1 87,935,416 (GRCm38) missense probably damaging 1.00
R5495:Dgkd UTSW 1 87,926,872 (GRCm38) missense probably damaging 1.00
R5514:Dgkd UTSW 1 87,934,110 (GRCm38) missense probably damaging 1.00
R5729:Dgkd UTSW 1 87,936,332 (GRCm38) nonsense probably null
R5766:Dgkd UTSW 1 87,880,449 (GRCm38) nonsense probably null
R6133:Dgkd UTSW 1 87,938,240 (GRCm38) missense possibly damaging 0.93
R6137:Dgkd UTSW 1 87,936,381 (GRCm38) missense possibly damaging 0.48
R6198:Dgkd UTSW 1 87,924,208 (GRCm38) missense probably damaging 1.00
R6297:Dgkd UTSW 1 87,926,144 (GRCm38) missense possibly damaging 0.94
R6577:Dgkd UTSW 1 87,940,240 (GRCm38) missense probably damaging 1.00
R6846:Dgkd UTSW 1 87,925,691 (GRCm38) splice site probably null
R6905:Dgkd UTSW 1 87,935,375 (GRCm38) missense probably damaging 1.00
R7369:Dgkd UTSW 1 87,921,622 (GRCm38) missense probably damaging 1.00
R7763:Dgkd UTSW 1 87,926,949 (GRCm38) missense probably benign
R7921:Dgkd UTSW 1 87,924,084 (GRCm38) missense probably damaging 0.98
R8087:Dgkd UTSW 1 87,916,847 (GRCm38) missense probably damaging 1.00
R8119:Dgkd UTSW 1 87,917,967 (GRCm38) missense possibly damaging 0.78
R8731:Dgkd UTSW 1 87,916,813 (GRCm38) missense possibly damaging 0.81
R8813:Dgkd UTSW 1 87,915,544 (GRCm38) missense probably damaging 0.99
R8849:Dgkd UTSW 1 87,918,643 (GRCm38) missense probably damaging 0.99
R8906:Dgkd UTSW 1 87,941,435 (GRCm38) missense probably damaging 0.97
R9496:Dgkd UTSW 1 87,929,742 (GRCm38) missense probably benign 0.05
R9743:Dgkd UTSW 1 87,934,128 (GRCm38) missense
Z1176:Dgkd UTSW 1 87,927,810 (GRCm38) missense probably benign 0.05
Z1177:Dgkd UTSW 1 87,916,886 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGGCTATGGGCATTCACTG -3'
(R):5'- CCCCTAGTTTCTAAGGTTAGGACAG -3'

Sequencing Primer
(F):5'- GTCTCTGACAGTTCACCTC -3'
(R):5'- GTGGCTAAGAAAATCAAGGCTTCTCC -3'
Posted On 2015-05-14