Incidental Mutation 'R8943:Dgkb'
ID 681114
Institutional Source Beutler Lab
Gene Symbol Dgkb
Ensembl Gene ENSMUSG00000036095
Gene Name diacylglycerol kinase, beta
Synonyms C630029D13Rik, DGK-beta
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 37930169-38684238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38652777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 721 (Y721N)
Ref Sequence ENSEMBL: ENSMUSP00000152378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040500] [ENSMUST00000220990]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040500
AA Change: Y721N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: Y721N

DomainStartEndE-ValueType
Pfam:DAG_kinase_N 6 141 1.4e-49 PFAM
EFh 145 173 1.82e-4 SMART
EFh 190 218 1.18e-3 SMART
C1 235 286 7.11e-16 SMART
C1 302 350 9.25e-6 SMART
DAGKc 429 553 2.58e-68 SMART
DAGKa 573 753 8.02e-106 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220990
AA Change: Y721N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transposon distruption have defects in long term potentiation, synapase morphology, and in spatial reference and working memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Cadm1 T C 9: 47,701,136 (GRCm39) I141T probably damaging Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Cldn18 T C 9: 99,578,162 (GRCm39) M194V probably benign Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Eif2b3 G A 4: 116,901,778 (GRCm39) G147E probably damaging Het
Fam193a A G 5: 34,597,796 (GRCm39) D531G probably benign Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpcat1 A G 13: 73,662,029 (GRCm39) T409A probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mc4r A C 18: 66,993,110 (GRCm39) M1R probably null Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Ppfibp1 T A 6: 146,920,681 (GRCm39) probably null Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Ryr3 T C 2: 112,465,669 (GRCm39) N4781S probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sfswap A G 5: 129,581,168 (GRCm39) R114G probably damaging Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null Het
Other mutations in Dgkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Dgkb APN 12 38,488,567 (GRCm39) missense probably benign 0.05
IGL00768:Dgkb APN 12 38,477,478 (GRCm39) missense probably benign 0.00
IGL00792:Dgkb APN 12 38,264,388 (GRCm39) critical splice donor site probably null
IGL00934:Dgkb APN 12 38,477,455 (GRCm39) missense probably damaging 0.98
IGL00970:Dgkb APN 12 38,240,082 (GRCm39) missense probably damaging 1.00
IGL01152:Dgkb APN 12 38,134,233 (GRCm39) missense probably damaging 1.00
IGL01489:Dgkb APN 12 38,177,384 (GRCm39) critical splice donor site probably null
IGL01993:Dgkb APN 12 38,032,009 (GRCm39) missense probably benign 0.19
IGL02212:Dgkb APN 12 38,189,413 (GRCm39) missense probably damaging 1.00
IGL02687:Dgkb APN 12 38,680,628 (GRCm39) missense possibly damaging 0.94
IGL02986:Dgkb APN 12 38,150,399 (GRCm39) missense possibly damaging 0.88
IGL03155:Dgkb APN 12 38,189,458 (GRCm39) missense probably damaging 1.00
IGL03174:Dgkb APN 12 38,266,053 (GRCm39) missense possibly damaging 0.93
IGL03198:Dgkb APN 12 38,186,615 (GRCm39) missense probably damaging 0.97
R0063:Dgkb UTSW 12 38,654,112 (GRCm39) missense probably benign
R0063:Dgkb UTSW 12 38,654,112 (GRCm39) missense probably benign
R0078:Dgkb UTSW 12 38,186,540 (GRCm39) missense probably benign 0.35
R0271:Dgkb UTSW 12 38,278,025 (GRCm39) missense probably damaging 1.00
R0359:Dgkb UTSW 12 38,266,030 (GRCm39) missense probably benign 0.17
R0396:Dgkb UTSW 12 38,240,134 (GRCm39) critical splice donor site probably null
R0547:Dgkb UTSW 12 38,654,157 (GRCm39) missense probably benign 0.39
R0554:Dgkb UTSW 12 38,266,030 (GRCm39) missense probably benign 0.17
R1903:Dgkb UTSW 12 38,216,776 (GRCm39) critical splice donor site probably null
R2004:Dgkb UTSW 12 38,134,228 (GRCm39) missense probably damaging 1.00
R2265:Dgkb UTSW 12 38,240,107 (GRCm39) missense possibly damaging 0.61
R2941:Dgkb UTSW 12 38,654,122 (GRCm39) missense possibly damaging 0.96
R3177:Dgkb UTSW 12 38,134,216 (GRCm39) missense probably damaging 0.98
R3277:Dgkb UTSW 12 38,134,216 (GRCm39) missense probably damaging 0.98
R4319:Dgkb UTSW 12 38,488,598 (GRCm39) missense probably damaging 1.00
R4446:Dgkb UTSW 12 38,234,952 (GRCm39) missense probably damaging 0.99
R4578:Dgkb UTSW 12 38,477,492 (GRCm39) missense possibly damaging 0.87
R4601:Dgkb UTSW 12 38,652,819 (GRCm39) missense probably damaging 0.96
R4799:Dgkb UTSW 12 38,164,567 (GRCm39) missense possibly damaging 0.89
R4937:Dgkb UTSW 12 38,164,657 (GRCm39) nonsense probably null
R5380:Dgkb UTSW 12 38,177,299 (GRCm39) missense possibly damaging 0.89
R5485:Dgkb UTSW 12 38,177,363 (GRCm39) missense probably damaging 1.00
R5556:Dgkb UTSW 12 38,177,363 (GRCm39) missense probably damaging 1.00
R6198:Dgkb UTSW 12 38,223,822 (GRCm39) missense probably benign
R6467:Dgkb UTSW 12 38,654,104 (GRCm39) missense probably damaging 1.00
R6467:Dgkb UTSW 12 38,134,223 (GRCm39) missense possibly damaging 0.65
R6792:Dgkb UTSW 12 38,150,424 (GRCm39) missense possibly damaging 0.48
R7056:Dgkb UTSW 12 38,150,492 (GRCm39) missense probably benign
R7116:Dgkb UTSW 12 38,031,989 (GRCm39) missense probably benign 0.00
R7251:Dgkb UTSW 12 38,031,985 (GRCm39) missense possibly damaging 0.77
R7265:Dgkb UTSW 12 38,234,931 (GRCm39) missense possibly damaging 0.91
R7268:Dgkb UTSW 12 38,197,554 (GRCm39) nonsense probably null
R7342:Dgkb UTSW 12 38,150,432 (GRCm39) missense probably benign 0.00
R7535:Dgkb UTSW 12 38,186,646 (GRCm39) missense probably damaging 1.00
R7540:Dgkb UTSW 12 38,031,789 (GRCm39) start gained probably benign
R7584:Dgkb UTSW 12 38,189,391 (GRCm39) splice site probably null
R7714:Dgkb UTSW 12 38,680,592 (GRCm39) missense probably damaging 0.99
R7885:Dgkb UTSW 12 38,189,425 (GRCm39) missense probably damaging 1.00
R8012:Dgkb UTSW 12 38,189,485 (GRCm39) missense probably benign 0.31
R8050:Dgkb UTSW 12 38,174,216 (GRCm39) missense probably benign 0.38
R8089:Dgkb UTSW 12 38,234,949 (GRCm39) missense probably damaging 1.00
R8103:Dgkb UTSW 12 38,186,580 (GRCm39) missense probably damaging 1.00
R8400:Dgkb UTSW 12 38,652,837 (GRCm39) critical splice donor site probably null
R8418:Dgkb UTSW 12 38,380,016 (GRCm39) missense probably damaging 1.00
R8473:Dgkb UTSW 12 38,234,939 (GRCm39) missense probably damaging 0.99
R8739:Dgkb UTSW 12 38,278,323 (GRCm39) intron probably benign
R8744:Dgkb UTSW 12 38,488,611 (GRCm39) missense probably damaging 0.98
R8962:Dgkb UTSW 12 38,189,494 (GRCm39) critical splice donor site probably null
R9182:Dgkb UTSW 12 38,216,776 (GRCm39) critical splice donor site probably null
R9398:Dgkb UTSW 12 38,189,657 (GRCm39) missense probably damaging 1.00
X0023:Dgkb UTSW 12 38,277,988 (GRCm39) missense probably benign 0.00
X0027:Dgkb UTSW 12 38,278,124 (GRCm39) critical splice donor site probably null
Z1176:Dgkb UTSW 12 38,186,612 (GRCm39) missense probably damaging 0.99
Z1176:Dgkb UTSW 12 38,031,995 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- GTTCCATAGAGCCCCAGAGATTAG -3'
(R):5'- TGATAGGAAGTAGCTGTTAAGACTG -3'

Sequencing Primer
(F):5'- GCCCCAGAGATTAGTTATACTAACTC -3'
(R):5'- GTCATGTCAAAGCACACT -3'
Posted On 2021-08-31