Incidental Mutation 'R5485:Dgkb'
ID 432534
Institutional Source Beutler Lab
Gene Symbol Dgkb
Ensembl Gene ENSMUSG00000036095
Gene Name diacylglycerol kinase, beta
Synonyms C630029D13Rik, DGK-beta
MMRRC Submission 043046-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R5485 (G1)
Quality Score 175
Status Validated
Chromosome 12
Chromosomal Location 37930169-38684238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38177363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 230 (V230A)
Ref Sequence ENSEMBL: ENSMUSP00000152446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040500] [ENSMUST00000220990] [ENSMUST00000221176]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040500
AA Change: V223A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: V223A

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 probably damaging
Transcript: ENSMUST00000220990
AA Change: V223A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221098
Predicted Effect probably damaging
Transcript: ENSMUST00000221176
AA Change: V230A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221540
Meta Mutation Damage Score 0.2900 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.6%
Validation Efficiency 98% (59/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,378 (GRCm39) V85D probably benign Het
Abcb8 A G 5: 24,605,159 (GRCm39) N115S probably benign Het
Appl1 C A 14: 26,684,823 (GRCm39) L75F probably damaging Het
Atp13a5 A G 16: 29,100,760 (GRCm39) probably null Het
Atp2c2 T A 8: 120,479,801 (GRCm39) probably null Het
Cfap54 T A 10: 92,864,979 (GRCm39) I94F probably damaging Het
Clasp1 A G 1: 118,395,643 (GRCm39) I194V possibly damaging Het
Crebbp A C 16: 3,932,777 (GRCm39) D1000E probably benign Het
Ctdnep1 C T 11: 69,872,316 (GRCm39) R3W possibly damaging Het
Duoxa2 T C 2: 122,129,633 (GRCm39) F38L possibly damaging Het
Ecd T C 14: 20,388,273 (GRCm39) S172G probably benign Het
Endog G T 2: 30,061,663 (GRCm39) probably benign Het
Eqtn G A 4: 94,813,193 (GRCm39) P131L possibly damaging Het
Gabbr1 T A 17: 37,367,767 (GRCm39) S290T possibly damaging Het
Glt8d2 T A 10: 82,487,282 (GRCm39) R319S possibly damaging Het
Gm16686 A G 4: 88,673,641 (GRCm39) probably benign Het
Gm5709 A T 3: 59,542,983 (GRCm39) noncoding transcript Het
Gm7381 T C 8: 3,892,161 (GRCm39) noncoding transcript Het
Gorab T G 1: 163,213,871 (GRCm39) D353A possibly damaging Het
Gstm1 A G 3: 107,924,720 (GRCm39) L20P probably damaging Het
Hexim2 A G 11: 103,029,884 (GRCm39) D312G probably benign Het
Hfm1 A G 5: 106,995,528 (GRCm39) probably null Het
Mbd4 C A 6: 115,827,679 (GRCm39) A66S probably benign Het
Mmp27 T A 9: 7,573,363 (GRCm39) W152R probably damaging Het
Mogat1 A G 1: 78,500,307 (GRCm39) T124A probably benign Het
Mrps18b A T 17: 36,225,236 (GRCm39) V102D probably damaging Het
Or10g3b A T 14: 52,586,776 (GRCm39) C242* probably null Het
Peg10 T A 6: 4,755,565 (GRCm39) M47K probably benign Het
Plxnc1 T G 10: 94,758,604 (GRCm39) Q364P probably benign Het
Psd A T 19: 46,304,528 (GRCm39) probably null Het
Rims1 T G 1: 22,522,289 (GRCm39) I470L possibly damaging Het
Sbsn T C 7: 30,452,542 (GRCm39) V519A possibly damaging Het
Senp1 A G 15: 97,964,377 (GRCm39) V279A probably benign Het
Sfxn5 T A 6: 85,309,582 (GRCm39) probably benign Het
Slc6a13 T A 6: 121,313,032 (GRCm39) M483K probably damaging Het
Slc6a21 G A 7: 44,931,966 (GRCm39) probably null Het
Slco6c1 T C 1: 97,053,481 (GRCm39) Y140C probably damaging Het
Spata32 A G 11: 103,100,122 (GRCm39) S128P probably damaging Het
Spty2d1 G T 7: 46,647,633 (GRCm39) T432K possibly damaging Het
Stx8 A G 11: 67,911,792 (GRCm39) Q170R probably benign Het
Sytl3 G A 17: 6,982,879 (GRCm39) V112I probably benign Het
Tdrkh A G 3: 94,336,019 (GRCm39) I420V probably benign Het
Tmem117 T C 15: 94,992,711 (GRCm39) V457A probably benign Het
Tpk1 T C 6: 43,642,746 (GRCm39) probably benign Het
Trpc2 GTGTCCTA GTGTCCTATGTCCTA 7: 101,744,420 (GRCm39) probably null Het
Tsen54 A G 11: 115,706,048 (GRCm39) E90G probably benign Het
Ugt1a2 A T 1: 88,128,968 (GRCm39) M204L probably damaging Het
Vmn2r17 A T 5: 109,567,972 (GRCm39) I32F probably benign Het
Xkr6 T C 14: 64,056,833 (GRCm39) V248A unknown Het
Zfhx4 C A 3: 5,308,067 (GRCm39) S431Y probably damaging Het
Zfp318 T A 17: 46,723,180 (GRCm39) S1728T possibly damaging Het
Zfp563 T C 17: 33,308,540 (GRCm39) probably benign 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
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
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'- TTAAGGACAGGTTTCTCCACTCTC -3'
(R):5'- TCACACAATTGCGCCATGG -3'

Sequencing Primer
(F):5'- CACCAGCTAGAGAAAGTGTTTTG -3'
(R):5'- CAATTGCGCCATGGGATTAC -3'
Posted On 2016-10-05