Incidental Mutation 'IGL03198:Dgkb'
ID412892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgkb
Ensembl Gene ENSMUSG00000036095
Gene Namediacylglycerol kinase, beta
SynonymsC630029D13Rik, DGK-beta
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.192) question?
Stock #IGL03198
Quality Score
Status
Chromosome12
Chromosomal Location37817726-38634239 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38136616 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 262 (N262D)
Ref Sequence ENSEMBL: ENSMUSP00000152446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040500] [ENSMUST00000220990] [ENSMUST00000221176]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040500
AA Change: N255D

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: N255D

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 noncoding transcript
Transcript: ENSMUST00000220606
Predicted Effect possibly damaging
Transcript: ENSMUST00000220990
AA Change: N255D

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221098
Predicted Effect probably damaging
Transcript: ENSMUST00000221176
AA Change: N262D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221540
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,549,952 probably benign Het
Atp6v0a2 T C 5: 124,712,361 probably null Het
Brca1 G T 11: 101,512,711 probably benign Het
Cd55 A T 1: 130,440,371 C372S probably benign Het
Clip2 A T 5: 134,498,082 probably benign Het
Fam227b C T 2: 126,124,579 probably null Het
Foxj2 G A 6: 122,833,007 probably null Het
Gm4297 T A X: 24,552,571 probably benign Het
Grik3 A G 4: 125,659,762 D429G probably benign Het
Hcfc1 T C X: 73,951,329 I924V possibly damaging Het
Lrrk1 A G 7: 66,306,894 V411A probably damaging Het
Mdh1 A T 11: 21,564,168 V83E probably damaging Het
Pa2g4 A G 10: 128,565,778 V17A probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Polg A G 7: 79,451,722 V1079A probably damaging Het
Polr2a G T 11: 69,747,281 probably null Het
Ptk2 C T 15: 73,236,216 S722N probably damaging Het
Rock2 A G 12: 16,975,507 D1243G probably benign Het
Sirt4 T C 5: 115,483,002 D37G probably benign Het
Slc35d1 T C 4: 103,184,888 Y249C probably damaging Het
Snrnp27 A T 6: 86,682,986 probably null Het
Srek1 T C 13: 103,744,935 probably null Het
Sspo A T 6: 48,477,582 I2951F probably benign Het
Stxbp3 A G 3: 108,827,089 F40L probably damaging Het
Sympk T C 7: 19,044,996 V604A possibly damaging Het
Tbc1d2b T C 9: 90,222,457 Y544C probably damaging Het
Tnpo2 C T 8: 85,051,718 T592I possibly damaging Het
Txndc16 T C 14: 45,151,484 probably benign Het
Ubr5 A T 15: 38,045,720 L120Q probably damaging Het
Wdfy4 A T 14: 33,125,887 M836K probably damaging Het
Wdr48 A G 9: 119,912,413 N141S probably benign Het
Zc3h7a A T 16: 11,162,664 Y28* probably null Het
Zfp423 T C 8: 87,781,676 D659G possibly damaging Het
Other mutations in Dgkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Dgkb APN 12 38438568 missense probably benign 0.05
IGL00768:Dgkb APN 12 38427479 missense probably benign 0.00
IGL00792:Dgkb APN 12 38214389 critical splice donor site probably null
IGL00934:Dgkb APN 12 38427456 missense probably damaging 0.98
IGL00970:Dgkb APN 12 38190083 missense probably damaging 1.00
IGL01152:Dgkb APN 12 38084234 missense probably damaging 1.00
IGL01489:Dgkb APN 12 38127385 critical splice donor site probably null
IGL01993:Dgkb APN 12 37982010 missense probably benign 0.19
IGL02212:Dgkb APN 12 38139414 missense probably damaging 1.00
IGL02687:Dgkb APN 12 38630629 missense possibly damaging 0.94
IGL02986:Dgkb APN 12 38100400 missense possibly damaging 0.88
IGL03155:Dgkb APN 12 38139459 missense probably damaging 1.00
IGL03174:Dgkb APN 12 38216054 missense possibly damaging 0.93
R0063:Dgkb UTSW 12 38604113 missense probably benign
R0063:Dgkb UTSW 12 38604113 missense probably benign
R0078:Dgkb UTSW 12 38136541 missense probably benign 0.35
R0271:Dgkb UTSW 12 38228026 missense probably damaging 1.00
R0359:Dgkb UTSW 12 38216031 missense probably benign 0.17
R0396:Dgkb UTSW 12 38190135 critical splice donor site probably null
R0547:Dgkb UTSW 12 38604158 missense probably benign 0.39
R0554:Dgkb UTSW 12 38216031 missense probably benign 0.17
R1903:Dgkb UTSW 12 38166777 critical splice donor site probably null
R2004:Dgkb UTSW 12 38084229 missense probably damaging 1.00
R2265:Dgkb UTSW 12 38190108 missense possibly damaging 0.61
R2941:Dgkb UTSW 12 38604123 missense possibly damaging 0.96
R3177:Dgkb UTSW 12 38084217 missense probably damaging 0.98
R3277:Dgkb UTSW 12 38084217 missense probably damaging 0.98
R4319:Dgkb UTSW 12 38438599 missense probably damaging 1.00
R4446:Dgkb UTSW 12 38184953 missense probably damaging 0.99
R4578:Dgkb UTSW 12 38427493 missense possibly damaging 0.87
R4601:Dgkb UTSW 12 38602820 missense probably damaging 0.96
R4799:Dgkb UTSW 12 38114568 missense possibly damaging 0.89
R4937:Dgkb UTSW 12 38114658 nonsense probably null
R5380:Dgkb UTSW 12 38127300 missense possibly damaging 0.89
R5485:Dgkb UTSW 12 38127364 missense probably damaging 1.00
R5556:Dgkb UTSW 12 38127364 missense probably damaging 1.00
R6198:Dgkb UTSW 12 38173823 missense probably benign
R6467:Dgkb UTSW 12 38084224 missense possibly damaging 0.65
R6467:Dgkb UTSW 12 38604105 missense probably damaging 1.00
R6792:Dgkb UTSW 12 38100425 missense possibly damaging 0.48
R7056:Dgkb UTSW 12 38100493 missense probably benign
R7116:Dgkb UTSW 12 37981990 missense probably benign 0.00
R7251:Dgkb UTSW 12 37981986 missense possibly damaging 0.77
R7265:Dgkb UTSW 12 38184932 missense possibly damaging 0.91
R7268:Dgkb UTSW 12 38147555 nonsense probably null
R7342:Dgkb UTSW 12 38100433 missense probably benign 0.00
X0023:Dgkb UTSW 12 38227989 missense probably benign 0.00
X0027:Dgkb UTSW 12 38228125 critical splice donor site probably null
Posted On2016-08-02