Incidental Mutation 'R7116:Dgkb'
ID 551789
Institutional Source Beutler Lab
Gene Symbol Dgkb
Ensembl Gene ENSMUSG00000036095
Gene Name diacylglycerol kinase, beta
Synonyms C630029D13Rik, DGK-beta
MMRRC Submission 045207-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R7116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 37930169-38684238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38031989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 17 (Q17R)
Ref Sequence ENSEMBL: ENSMUSP00000037900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040500] [ENSMUST00000220990] [ENSMUST00000221176] [ENSMUST00000222337]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040500
AA Change: Q17R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: Q17R

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 benign
Transcript: ENSMUST00000220990
AA Change: Q17R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000221176
AA Change: Q17R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000222337
AA Change: Q17R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,251,751 (GRCm39) S109P probably damaging Het
Afg3l1 T G 8: 124,216,601 (GRCm39) L280R probably damaging Het
Akap13 T A 7: 75,369,943 (GRCm39) S129T probably benign Het
Ankrd11 A G 8: 123,622,869 (GRCm39) S328P probably damaging Het
Aox3 A T 1: 58,192,689 (GRCm39) E554D probably benign Het
Bcl11a T C 11: 24,113,839 (GRCm39) V394A probably damaging Het
Cass4 A G 2: 172,269,889 (GRCm39) Y657C unknown Het
Ccdc88a C T 11: 29,454,051 (GRCm39) A1738V probably benign Het
Cfap74 T C 4: 155,539,518 (GRCm39) F948L unknown Het
Chgb A T 2: 132,623,237 (GRCm39) probably benign Het
Coro1c C T 5: 113,990,267 (GRCm39) W138* probably null Het
Esco2 A G 14: 66,064,006 (GRCm39) Y393H probably damaging Het
Eya3 T A 4: 132,422,110 (GRCm39) D228E probably benign Het
Fat2 T C 11: 55,173,162 (GRCm39) D2517G probably damaging Het
Fry T A 5: 150,319,334 (GRCm39) probably null Het
Gal3st2b A T 1: 93,868,498 (GRCm39) Q243L possibly damaging Het
Gimap9 C T 6: 48,654,989 (GRCm39) A192V probably benign Het
Glg1 T A 8: 111,905,589 (GRCm39) Q564L probably benign Het
H2-Aa A T 17: 34,502,601 (GRCm39) Y188* probably null Het
Hira T C 16: 18,730,864 (GRCm39) Y188H probably damaging Het
Ighv8-8 C T 12: 115,257,814 (GRCm39) D76N probably benign Het
Irf6 T C 1: 192,849,905 (GRCm39) F276L probably damaging Het
Itpr1 T C 6: 108,458,229 (GRCm39) C2000R probably damaging Het
Jakmip3 T C 7: 138,621,979 (GRCm39) V293A possibly damaging Het
Kcnh7 A G 2: 62,707,614 (GRCm39) V132A probably benign Het
Kcnj1 A G 9: 32,308,277 (GRCm39) T234A possibly damaging Het
Kpna3 T A 14: 61,605,635 (GRCm39) N470I probably benign Het
Lamb2 T C 9: 108,364,522 (GRCm39) F1121L probably damaging Het
Lingo1 T C 9: 56,527,911 (GRCm39) D232G probably benign Het
Lpxn T A 19: 12,788,622 (GRCm39) N70K probably benign Het
Ltbp4 T A 7: 27,004,852 (GRCm39) H1657L probably damaging Het
Luzp2 C A 7: 54,915,078 (GRCm39) F334L possibly damaging Het
Mgat5b A T 11: 116,835,785 (GRCm39) S142C possibly damaging Het
Mroh7 G A 4: 106,568,517 (GRCm39) T396I probably benign Het
Muc5b T C 7: 141,417,487 (GRCm39) S3478P probably benign Het
Nfatc2 A T 2: 168,349,269 (GRCm39) M626K probably benign Het
Nlrp14 A G 7: 106,782,255 (GRCm39) D484G possibly damaging Het
Npc1 T C 18: 12,344,601 (GRCm39) Y423C probably damaging Het
Nrsn1 A G 13: 25,437,388 (GRCm39) I180T probably damaging Het
Or11g25 A T 14: 50,723,025 (GRCm39) I37F probably benign Het
Or51a8 T A 7: 102,549,842 (GRCm39) N89K probably benign Het
Osbpl6 A T 2: 76,426,225 (GRCm39) I935F probably benign Het
Otog T C 7: 45,947,689 (GRCm39) F96L probably damaging Het
Pde1b T C 15: 103,436,745 (GRCm39) L534P possibly damaging Het
Pdzd8 C T 19: 59,288,125 (GRCm39) E1092K probably damaging Het
Pfkl T C 10: 77,837,249 (GRCm39) H108R probably benign Het
Pkhd1l1 G A 15: 44,421,372 (GRCm39) V3047I probably benign Het
Plag1 A T 4: 3,904,812 (GRCm39) C126* probably null Het
Pphln1 T A 15: 93,353,406 (GRCm39) S229T probably benign Het
Pramel5 C T 4: 144,000,451 (GRCm39) D42N possibly damaging Het
Psd3 A G 8: 68,166,390 (GRCm39) V915A probably benign Het
Ptdss1 T A 13: 67,093,391 (GRCm39) I77N probably benign Het
Rsbn1 T A 3: 103,821,892 (GRCm39) C3* probably null Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sv2c A T 13: 96,113,152 (GRCm39) V599E probably damaging Het
Vmn2r37 T C 7: 9,220,898 (GRCm39) T322A probably benign Het
Vmn2r60 T A 7: 41,786,487 (GRCm39) M430K probably benign Het
Wipf3 T A 6: 54,458,904 (GRCm39) 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
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
R8943:Dgkb UTSW 12 38,652,777 (GRCm39) missense probably damaging 0.97
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'- AAAGAGTGTGTATTCTGGAAGCC -3'
(R):5'- CAGCAATGTTTACCAGGCTTAG -3'

Sequencing Primer
(F):5'- GCCAGAGCTATTTCATCATGAAAC -3'
(R):5'- ATGCTAAAAGGCAATCTTAAAATGAC -3'
Posted On 2019-05-15