Incidental Mutation 'IGL03297:Dgkq'
ID416123
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgkq
Ensembl Gene ENSMUSG00000004815
Gene Namediacylglycerol kinase, theta
Synonyms110kDa, DAGK7, Dagk4, Dgkd, Dgk theta
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.268) question?
Stock #IGL03297
Quality Score
Status
Chromosome5
Chromosomal Location108646693-108669672 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 108650274 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 706 (R706L)
Ref Sequence ENSEMBL: ENSMUSP00000057859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053913] [ENSMUST00000063272] [ENSMUST00000078323] [ENSMUST00000120327] [ENSMUST00000132179] [ENSMUST00000132708] [ENSMUST00000153238]
Predicted Effect probably damaging
Transcript: ENSMUST00000053913
AA Change: R706L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: R706L

DomainStartEndE-ValueType
C1 55 102 3.22e-14 SMART
C1 114 162 1.73e-2 SMART
C1 178 228 1.58e-13 SMART
low complexity region 267 275 N/A INTRINSIC
RA 387 486 2.08e-20 SMART
DAGKc 580 707 4.79e-63 SMART
DAGKa 733 885 7e-88 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063272
SMART Domains Protein: ENSMUSP00000068607
Gene: ENSMUSG00000013495

DomainStartEndE-ValueType
Pfam:DUF1211 31 121 7.3e-28 PFAM
transmembrane domain 135 157 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
Pfam:DUF1211 256 353 4.4e-36 PFAM
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078323
SMART Domains Protein: ENSMUSP00000077437
Gene: ENSMUSG00000013495

DomainStartEndE-ValueType
Pfam:DUF1211 31 121 7.3e-28 PFAM
transmembrane domain 135 157 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
Pfam:DUF1211 256 353 4.4e-36 PFAM
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120327
SMART Domains Protein: ENSMUSP00000112780
Gene: ENSMUSG00000013495

DomainStartEndE-ValueType
Pfam:DUF1211 32 121 1.5e-22 PFAM
transmembrane domain 135 157 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
Pfam:DUF1211 257 353 9.5e-27 PFAM
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123669
Predicted Effect probably benign
Transcript: ENSMUST00000132179
SMART Domains Protein: ENSMUSP00000118466
Gene: ENSMUSG00000004815

DomainStartEndE-ValueType
C1 55 102 3.22e-14 SMART
Blast:C1 114 144 1e-12 BLAST
low complexity region 156 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132708
SMART Domains Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815

DomainStartEndE-ValueType
Blast:C1 26 56 2e-13 BLAST
low complexity region 68 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145917
Predicted Effect probably benign
Transcript: ENSMUST00000153238
SMART Domains Protein: ENSMUSP00000118065
Gene: ENSMUSG00000004815

DomainStartEndE-ValueType
C1 55 102 3.22e-14 SMART
Blast:C1 114 144 1e-12 BLAST
low complexity region 156 169 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156964
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,423,426 G1624S probably damaging Het
Adhfe1 A G 1: 9,549,948 probably benign Het
Ano6 C A 15: 95,962,277 T760N probably damaging Het
Camsap2 T C 1: 136,297,801 M196V probably benign Het
Cd209d T C 8: 3,878,476 D3G possibly damaging Het
Cdh5 T A 8: 104,128,199 F253Y probably damaging Het
Cnot10 T C 9: 114,598,716 E610G possibly damaging Het
Cnot4 T C 6: 35,024,223 N579S probably benign Het
Csmd1 G T 8: 16,009,432 S2101* probably null Het
Gm5422 T C 10: 31,249,731 noncoding transcript Het
Gpr34 A G X: 13,639,442 Y70C probably damaging Het
Herc6 T A 6: 57,662,389 L914Q probably benign Het
Ifitm6 T C 7: 141,016,035 Y115C probably damaging Het
Iqcg G T 16: 33,035,632 probably benign Het
Myo15 A G 11: 60,479,141 D909G probably damaging Het
Nefl A G 14: 68,084,224 T88A possibly damaging Het
Nfatc2 T A 2: 168,536,218 N509I probably damaging Het
Nkd1 T C 8: 88,574,274 probably benign Het
Npas2 T C 1: 39,292,690 V62A possibly damaging Het
Oas2 T G 5: 120,735,085 D635A possibly damaging Het
Obscn C T 11: 59,060,886 V4014M possibly damaging Het
Ogfr C A 2: 180,594,407 H262N possibly damaging Het
Olfr433 T G 1: 174,042,117 S56A probably benign Het
Olfr913 A T 9: 38,594,525 L101F probably benign Het
Pa2g4 T C 10: 128,563,236 D104G probably damaging Het
Parp11 T C 6: 127,490,082 probably benign Het
Ppp2r5a C T 1: 191,354,762 V360I probably benign Het
Ptpn13 A T 5: 103,541,077 K912I probably benign Het
Sec16a A G 2: 26,439,190 S938P probably benign Het
Slc15a1 A C 14: 121,486,684 I170S probably damaging Het
Smchd1 T C 17: 71,349,700 N1924S probably benign Het
Sprr4 G A 3: 92,500,424 P24S unknown Het
Trim30b A T 7: 104,365,895 N95K probably benign Het
Tyw1 C T 5: 130,340,734 A687V probably damaging Het
Vmn2r14 T A 5: 109,216,107 I648F probably damaging Het
Vmn2r78 T A 7: 86,920,761 C162* probably null Het
Other mutations in Dgkq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Dgkq APN 5 108654582 missense possibly damaging 0.72
IGL02364:Dgkq APN 5 108656444 missense probably benign 0.05
IGL02966:Dgkq APN 5 108656421 splice site probably null
R0179:Dgkq UTSW 5 108658200 splice site probably benign
R0194:Dgkq UTSW 5 108654644 intron probably benign
R0332:Dgkq UTSW 5 108655099 splice site probably benign
R0513:Dgkq UTSW 5 108656495 missense probably benign 0.02
R0525:Dgkq UTSW 5 108654615 missense probably damaging 1.00
R0673:Dgkq UTSW 5 108655589 missense probably damaging 0.97
R0801:Dgkq UTSW 5 108660720 utr 5 prime probably null
R0850:Dgkq UTSW 5 108654578 missense possibly damaging 0.82
R0944:Dgkq UTSW 5 108656465 missense probably damaging 1.00
R1069:Dgkq UTSW 5 108656037 splice site probably benign
R1411:Dgkq UTSW 5 108650362 missense probably damaging 1.00
R1488:Dgkq UTSW 5 108650877 missense probably damaging 1.00
R1858:Dgkq UTSW 5 108653731 missense probably benign 0.00
R1874:Dgkq UTSW 5 108660595 missense probably benign 0.07
R2210:Dgkq UTSW 5 108660523 missense probably damaging 1.00
R4499:Dgkq UTSW 5 108649661 missense possibly damaging 0.54
R5061:Dgkq UTSW 5 108654123 missense probably benign 0.02
R5474:Dgkq UTSW 5 108649143 critical splice donor site probably null
R5481:Dgkq UTSW 5 108648810 unclassified probably null
R5951:Dgkq UTSW 5 108654370 missense probably damaging 1.00
R6193:Dgkq UTSW 5 108655500 nonsense probably null
R6429:Dgkq UTSW 5 108653708 missense probably damaging 1.00
R6458:Dgkq UTSW 5 108654376 missense possibly damaging 0.93
Posted On2016-08-02