Incidental Mutation 'IGL02212:Dgkb'
ID 285531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgkb
Ensembl Gene ENSMUSG00000036095
Gene Name diacylglycerol kinase, beta
Synonyms C630029D13Rik, DGK-beta
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL02212
Quality Score
Status
Chromosome 12
Chromosomal Location 37930169-38684238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38189413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 272 (Y272C)
Ref Sequence ENSEMBL: ENSMUSP00000152378 (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: Y272C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: Y272C

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: Y272C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221098
Predicted Effect probably benign
Transcript: ENSMUST00000221176
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,079,233 (GRCm39) D1079V probably damaging Het
Adam18 T C 8: 25,127,195 (GRCm39) H467R probably benign Het
Ambra1 T G 2: 91,747,706 (GRCm39) D1056E probably damaging Het
Aoah A C 13: 21,187,071 (GRCm39) N456T probably benign Het
Batf2 T A 19: 6,221,991 (GRCm39) F267Y probably damaging Het
Bbs7 C T 3: 36,648,558 (GRCm39) V397I probably benign Het
Bbs9 T A 9: 22,723,808 (GRCm39) D824E probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Brip1 A T 11: 86,029,841 (GRCm39) V601E possibly damaging Het
Bub1 A G 2: 127,647,271 (GRCm39) F773L probably damaging Het
Cadps A T 14: 12,522,345 (GRCm38) D606E possibly damaging Het
Cenps T G 4: 149,213,303 (GRCm39) D54A probably damaging Het
Cep170 T A 1: 176,563,502 (GRCm39) N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,748 (GRCm39) V1340A possibly damaging Het
D630003M21Rik A T 2: 158,052,091 (GRCm39) S667T probably benign Het
Defa38 C T 8: 21,585,276 (GRCm39) probably benign Het
Dlx3 A G 11: 95,011,467 (GRCm39) D107G probably benign Het
Drd3 A T 16: 43,582,675 (GRCm39) N56I probably benign Het
Elavl4 T A 4: 110,063,609 (GRCm39) I331F probably damaging Het
Fam167a T G 14: 63,700,078 (GRCm39) S213A probably damaging Het
Fasn A T 11: 120,698,729 (GRCm39) I2489N probably damaging Het
Fbxo43 T C 15: 36,151,957 (GRCm39) K587E probably damaging Het
Fscn2 A G 11: 120,252,881 (GRCm39) D116G probably damaging Het
Galm T C 17: 80,457,546 (GRCm39) V194A probably benign Het
Gpr180 T A 14: 118,397,588 (GRCm39) F361I probably damaging Het
Gpx2 A T 12: 76,839,682 (GRCm39) C105* probably null Het
Gsdmc2 A T 15: 63,699,911 (GRCm39) probably benign Het
Hes2 T G 4: 152,244,982 (GRCm39) S150R probably damaging Het
Ighv1-56 C T 12: 115,206,417 (GRCm39) probably benign Het
Inhbb A T 1: 119,345,713 (GRCm39) V192D probably benign Het
Itgal A T 7: 126,900,152 (GRCm39) M137L probably benign Het
Jak2 A G 19: 29,265,382 (GRCm39) N470D probably benign Het
Jph1 T C 1: 17,161,981 (GRCm39) E227G probably damaging Het
Kcnj6 A T 16: 94,633,346 (GRCm39) I237N probably damaging Het
Kctd8 G T 5: 69,498,031 (GRCm39) P205Q probably benign Het
Klhdc1 A T 12: 69,297,540 (GRCm39) N37I probably damaging Het
Lrp2 T A 2: 69,281,608 (GRCm39) H3921L probably benign Het
Lrp8os2 T C 4: 107,664,245 (GRCm39) probably benign Het
Man2a2 A C 7: 80,012,056 (GRCm39) D700E probably benign Het
Mast1 A T 8: 85,648,026 (GRCm39) L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Mptx2 T A 1: 173,102,248 (GRCm39) D147V possibly damaging Het
Mrpl9 T A 3: 94,351,124 (GRCm39) probably null Het
Mup21 T G 4: 62,066,829 (GRCm39) E137A probably damaging Het
Mutyh T A 4: 116,672,803 (GRCm39) V52D probably damaging Het
Nalcn T A 14: 123,752,742 (GRCm39) S340C probably damaging Het
Neb A G 2: 52,198,323 (GRCm39) Y474H probably damaging Het
Nol8 A G 13: 49,815,626 (GRCm39) E560G possibly damaging Het
Ntn4 A G 10: 93,480,711 (GRCm39) D145G possibly damaging Het
Nup93 G A 8: 95,038,290 (GRCm39) probably null Het
Or1j17 A G 2: 36,578,194 (GRCm39) Y60C probably damaging Het
Or2n1b C A 17: 38,459,746 (GRCm39) T89K probably benign Het
Or2y14 A T 11: 49,404,737 (GRCm39) I91F probably damaging Het
Or52b2 C T 7: 104,986,350 (GRCm39) C191Y probably damaging Het
Pcdhb8 T A 18: 37,489,465 (GRCm39) V40E possibly damaging Het
Peg3 C T 7: 6,714,415 (GRCm39) R269H probably benign Het
Piwil1 T A 5: 128,827,334 (GRCm39) F648I possibly damaging Het
Psd4 A T 2: 24,295,326 (GRCm39) K827* probably null Het
Retsat T A 6: 72,578,693 (GRCm39) L135* probably null Het
Rtp3 A G 9: 110,816,389 (GRCm39) probably benign Het
Samd14 A G 11: 94,914,176 (GRCm39) Y305C probably damaging Het
Satb1 T A 17: 52,082,319 (GRCm39) Q445L possibly damaging Het
Shbg A G 11: 69,508,035 (GRCm39) L110P probably damaging Het
Slc17a6 T A 7: 51,317,218 (GRCm39) I413N possibly damaging Het
Slu7 A T 11: 43,331,469 (GRCm39) Q201L probably benign Het
Spg11 T C 2: 121,938,638 (GRCm39) T439A probably benign Het
Sstr5 A T 17: 25,710,647 (GRCm39) L194Q possibly damaging Het
Tjp2 A T 19: 24,116,150 (GRCm39) L13Q probably damaging Het
Tnk2 G A 16: 32,498,960 (GRCm39) V758I probably damaging Het
Ttll8 C A 15: 88,801,450 (GRCm39) V413L probably benign Het
Wiz T C 17: 32,587,109 (GRCm39) D67G probably damaging 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
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
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
Posted On 2015-04-16