Incidental Mutation 'IGL03040:Dgki'
ID 408870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgki
Ensembl Gene ENSMUSG00000038665
Gene Name diacylglycerol kinase, iota
Synonyms C130010K08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03040
Quality Score
Status
Chromosome 6
Chromosomal Location 36822957-37277119 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 37126599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042075] [ENSMUST00000090314] [ENSMUST00000101532] [ENSMUST00000138286] [ENSMUST00000150300]
AlphaFold D3YWQ0
Predicted Effect probably benign
Transcript: ENSMUST00000042075
SMART Domains Protein: ENSMUSP00000047858
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
C1 22 76 3.67e-1 SMART
C1 95 153 5.92e-4 SMART
DAGKc 220 344 6.73e-58 SMART
DAGKa 370 527 2.29e-92 SMART
ANK 792 822 5.53e-3 SMART
ANK 828 857 2.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090314
SMART Domains Protein: ENSMUSP00000087788
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 3.67e-1 SMART
C1 246 304 5.92e-4 SMART
DAGKc 371 495 6.73e-58 SMART
DAGKa 521 678 2.29e-92 SMART
ANK 943 973 5.53e-3 SMART
ANK 979 1008 2.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101532
SMART Domains Protein: ENSMUSP00000099071
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 3.67e-1 SMART
C1 246 304 5.92e-4 SMART
DAGKc 371 495 6.73e-58 SMART
DAGKa 521 678 2.29e-92 SMART
ANK 964 994 5.53e-3 SMART
ANK 1000 1029 2.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138286
SMART Domains Protein: ENSMUSP00000138628
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 1.8e-3 SMART
C1 246 304 2.9e-6 SMART
DAGKc 371 495 3.2e-60 SMART
DAGKa 521 678 1.1e-94 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150300
SMART Domains Protein: ENSMUSP00000138457
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 3.67e-1 SMART
C1 246 304 5.92e-4 SMART
DAGKc 371 495 6.73e-58 SMART
DAGKa 521 591 1.43e-6 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are grossly normal and do not develop tumors when wounded or when exposed to phorbol ester. [provided by MGI curators]
Allele List at MGI

All alleles(8) : Targeted, knock-out(1) Gene trapped(7)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C A 6: 142,598,323 (GRCm39) G672* probably null Het
Adamts19 T A 18: 59,036,080 (GRCm39) S422T probably benign Het
Anapc7 T A 5: 122,571,450 (GRCm39) L175* probably null Het
Atp13a2 T C 4: 140,733,484 (GRCm39) L986P probably damaging Het
Atp6v1d C A 12: 78,904,122 (GRCm39) probably benign Het
Bnip5 A G 17: 29,134,176 (GRCm39) M11T probably benign Het
Cldn5 A G 16: 18,596,380 (GRCm39) Y212C probably damaging Het
Evi5 A G 5: 107,969,672 (GRCm39) S80P probably damaging Het
Extl1 A T 4: 134,087,940 (GRCm39) probably benign Het
Fam237b C A 5: 5,625,566 (GRCm39) Y87* probably null Het
Fbxo38 T C 18: 62,660,323 (GRCm39) H296R probably damaging Het
Fras1 A G 5: 96,857,960 (GRCm39) I2085V probably benign Het
Gpd2 A T 2: 57,245,805 (GRCm39) E445V probably benign Het
Grm8 C T 6: 28,126,122 (GRCm39) M1I probably null Het
Hnf4g T A 3: 3,699,271 (GRCm39) probably benign Het
Hspg2 G A 4: 137,289,136 (GRCm39) probably null Het
Kmt2c T C 5: 25,515,350 (GRCm39) Q2831R probably benign Het
Nat10 C A 2: 103,587,610 (GRCm39) probably benign Het
Pbx1 C A 1: 168,255,515 (GRCm39) probably benign Het
Prkg2 C T 5: 99,120,966 (GRCm39) probably null Het
Scn10a T A 9: 119,452,051 (GRCm39) I1291F probably damaging Het
Sh3tc2 G A 18: 62,122,481 (GRCm39) G414D probably benign Het
Syn2 C T 6: 115,240,926 (GRCm39) T432I possibly damaging Het
Tnpo1 T C 13: 98,996,463 (GRCm39) E446G probably damaging Het
Topbp1 C T 9: 103,205,866 (GRCm39) L835F possibly damaging Het
Ubald1 G T 16: 4,693,626 (GRCm39) S96R possibly damaging Het
Utp6 C A 11: 79,826,939 (GRCm39) probably benign Het
Vmn1r19 C A 6: 57,382,347 (GRCm39) P300Q unknown Het
Vmn1r220 T C 13: 23,367,952 (GRCm39) D248G possibly damaging Het
Zglp1 T A 9: 20,974,622 (GRCm39) S189C probably damaging Het
Other mutations in Dgki
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Dgki APN 6 36,839,391 (GRCm39) missense probably benign 0.00
IGL00951:Dgki APN 6 36,977,094 (GRCm39) missense probably damaging 0.97
IGL01087:Dgki APN 6 36,989,846 (GRCm39) missense probably damaging 1.00
IGL01396:Dgki APN 6 36,977,025 (GRCm39) missense probably damaging 1.00
IGL02113:Dgki APN 6 36,890,560 (GRCm39) splice site probably benign
IGL02174:Dgki APN 6 37,009,856 (GRCm39) missense probably damaging 1.00
IGL02215:Dgki APN 6 36,993,610 (GRCm39) missense probably damaging 1.00
IGL02353:Dgki APN 6 36,824,324 (GRCm39) missense probably damaging 1.00
IGL02360:Dgki APN 6 36,824,324 (GRCm39) missense probably damaging 1.00
IGL02662:Dgki APN 6 36,839,421 (GRCm39) splice site probably benign
IGL02891:Dgki APN 6 36,890,676 (GRCm39) missense probably benign 0.15
IGL03064:Dgki APN 6 37,126,599 (GRCm39) splice site probably benign
IGL03283:Dgki APN 6 36,914,246 (GRCm39) splice site probably benign
IGL03349:Dgki APN 6 37,074,562 (GRCm39) critical splice acceptor site probably null
H8477:Dgki UTSW 6 37,006,786 (GRCm39) splice site probably benign
PIT4151001:Dgki UTSW 6 37,040,916 (GRCm39) missense probably benign 0.00
R0392:Dgki UTSW 6 36,977,113 (GRCm39) missense probably damaging 1.00
R0630:Dgki UTSW 6 36,977,133 (GRCm39) missense probably damaging 1.00
R0718:Dgki UTSW 6 36,989,831 (GRCm39) missense probably damaging 1.00
R1420:Dgki UTSW 6 37,027,204 (GRCm39) splice site probably null
R1546:Dgki UTSW 6 37,027,138 (GRCm39) missense probably damaging 1.00
R1634:Dgki UTSW 6 36,892,425 (GRCm39) missense probably benign
R1639:Dgki UTSW 6 36,914,299 (GRCm39) missense probably damaging 1.00
R1738:Dgki UTSW 6 37,034,367 (GRCm39) missense possibly damaging 0.93
R1750:Dgki UTSW 6 36,893,369 (GRCm39) missense probably damaging 0.96
R1808:Dgki UTSW 6 37,126,509 (GRCm39) missense possibly damaging 0.84
R1834:Dgki UTSW 6 37,011,636 (GRCm39) splice site probably benign
R2001:Dgki UTSW 6 36,842,736 (GRCm39) missense possibly damaging 0.94
R2047:Dgki UTSW 6 36,890,581 (GRCm39) missense possibly damaging 0.69
R2413:Dgki UTSW 6 36,824,408 (GRCm39) missense possibly damaging 0.49
R3034:Dgki UTSW 6 37,064,605 (GRCm39) missense probably damaging 1.00
R4493:Dgki UTSW 6 36,951,796 (GRCm39) intron probably benign
R4684:Dgki UTSW 6 37,276,781 (GRCm39) unclassified probably benign
R4727:Dgki UTSW 6 37,276,748 (GRCm39) unclassified probably benign
R5104:Dgki UTSW 6 37,126,509 (GRCm39) missense possibly damaging 0.84
R5756:Dgki UTSW 6 36,913,993 (GRCm39) intron probably benign
R6946:Dgki UTSW 6 37,276,571 (GRCm39) nonsense probably null
R8357:Dgki UTSW 6 36,827,891 (GRCm39) missense possibly damaging 0.94
R8363:Dgki UTSW 6 36,993,613 (GRCm39) missense probably damaging 1.00
R8424:Dgki UTSW 6 36,827,850 (GRCm39) missense probably benign 0.27
R8457:Dgki UTSW 6 36,827,891 (GRCm39) missense possibly damaging 0.94
R8791:Dgki UTSW 6 36,996,875 (GRCm39) missense probably damaging 1.00
R8880:Dgki UTSW 6 37,011,652 (GRCm39) intron probably benign
R8883:Dgki UTSW 6 36,993,608 (GRCm39) missense probably damaging 1.00
R9000:Dgki UTSW 6 37,074,643 (GRCm39) intron probably benign
R9221:Dgki UTSW 6 37,273,615 (GRCm39) missense probably benign 0.01
R9290:Dgki UTSW 6 37,276,780 (GRCm39) missense unknown
R9320:Dgki UTSW 6 36,892,422 (GRCm39) missense probably damaging 1.00
R9641:Dgki UTSW 6 37,126,489 (GRCm39) missense probably damaging 0.98
R9674:Dgki UTSW 6 37,027,157 (GRCm39) missense probably damaging 0.97
R9726:Dgki UTSW 6 37,276,858 (GRCm39) missense unknown
X0066:Dgki UTSW 6 37,040,932 (GRCm39) missense probably damaging 1.00
Z1177:Dgki UTSW 6 36,952,160 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02