Incidental Mutation 'IGL03341:Dgkh'
ID417240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgkh
Ensembl Gene ENSMUSG00000034731
Gene Namediacylglycerol kinase, eta
Synonyms5930402B05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.161) question?
Stock #IGL03341
Quality Score
Status
Chromosome14
Chromosomal Location78558750-78732776 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 78595491 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074729] [ENSMUST00000226342] [ENSMUST00000227537] [ENSMUST00000227767] [ENSMUST00000228362]
Predicted Effect probably benign
Transcript: ENSMUST00000074729
SMART Domains Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731

DomainStartEndE-ValueType
low complexity region 12 32 N/A INTRINSIC
PH 63 157 1.91e-19 SMART
C1 173 222 1.35e-16 SMART
C1 245 295 1.66e-7 SMART
DAGKc 329 454 3.11e-62 SMART
low complexity region 654 667 N/A INTRINSIC
low complexity region 715 730 N/A INTRINSIC
DAGKa 762 919 1.74e-92 SMART
low complexity region 1124 1134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226342
Predicted Effect probably benign
Transcript: ENSMUST00000227537
Predicted Effect probably benign
Transcript: ENSMUST00000227767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228170
Predicted Effect probably benign
Transcript: ENSMUST00000228362
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 encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C T 2: 35,375,894 V255I possibly damaging Het
Acvrl1 T A 15: 101,137,596 N334K probably damaging Het
Arhgef5 T A 6: 43,280,651 I1284N probably damaging Het
Asns C A 6: 7,682,002 R236L probably damaging Het
Barx2 T C 9: 31,858,794 E146G probably damaging Het
Ccl7 A G 11: 82,045,835 S18G probably benign Het
Cilp A T 9: 65,278,002 T460S probably benign Het
Cpa5 A G 6: 30,626,291 Y217C possibly damaging Het
Dmc1 T C 15: 79,562,545 T276A probably benign Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Gstm2 T C 3: 107,984,205 Y93C possibly damaging Het
Hc A T 2: 35,003,377 I1274N probably damaging Het
Htra1 A G 7: 130,981,714 I355V probably benign Het
Ifi214 G T 1: 173,526,516 T196K possibly damaging Het
Ms4a5 T C 19: 11,279,378 T52A probably benign Het
Mtx3 T C 13: 92,847,883 F191L probably damaging Het
Padi2 A G 4: 140,927,113 M192V probably benign Het
Pdcl3 C A 1: 38,995,895 Q178K probably benign Het
Rap1gap2 G A 11: 74,435,714 R176W probably damaging Het
Ska2 A G 11: 87,116,164 T32A probably benign Het
Slc6a18 G T 13: 73,677,923 Q3K probably benign Het
Slc7a14 T C 3: 31,238,770 Y122C probably damaging Het
Svep1 T A 4: 58,070,308 K2493* probably null Het
Trpm6 T A 19: 18,813,486 N628K probably benign Het
Ttc17 T A 2: 94,375,221 N260I probably damaging Het
Ttc7b T C 12: 100,325,735 I193V possibly damaging Het
Ttn T A 2: 76,712,239 T25141S possibly damaging Het
Zfhx4 A C 3: 5,411,850 Q3150P probably damaging Het
Other mutations in Dgkh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Dgkh APN 14 78609593 missense possibly damaging 0.92
IGL00767:Dgkh APN 14 78587261 splice site probably benign
IGL00787:Dgkh APN 14 78618514 splice site probably benign
IGL01503:Dgkh APN 14 78616270 missense possibly damaging 0.96
IGL02308:Dgkh APN 14 78587576 missense probably benign 0.01
IGL02707:Dgkh APN 14 78585651 missense possibly damaging 0.75
IGL02987:Dgkh APN 14 78589872 critical splice donor site probably null
IGL03058:Dgkh APN 14 78627797 missense probably benign 0.23
PIT1430001:Dgkh UTSW 14 78581513 missense probably damaging 1.00
PIT4445001:Dgkh UTSW 14 78575942 missense possibly damaging 0.91
R0153:Dgkh UTSW 14 78570129 nonsense probably null
R0730:Dgkh UTSW 14 78584479 missense probably damaging 0.99
R1136:Dgkh UTSW 14 78624889 missense probably damaging 1.00
R1162:Dgkh UTSW 14 78624451 missense probably damaging 1.00
R1689:Dgkh UTSW 14 78618544 missense possibly damaging 0.86
R1771:Dgkh UTSW 14 78609527 missense probably damaging 1.00
R1861:Dgkh UTSW 14 78578792 missense probably benign 0.04
R1916:Dgkh UTSW 14 78595223 missense probably damaging 0.97
R1930:Dgkh UTSW 14 78616505 missense probably damaging 1.00
R1931:Dgkh UTSW 14 78616505 missense probably damaging 1.00
R1956:Dgkh UTSW 14 78618541 missense probably damaging 1.00
R2007:Dgkh UTSW 14 78603049 missense probably benign 0.09
R3747:Dgkh UTSW 14 78584445 missense probably damaging 1.00
R4446:Dgkh UTSW 14 78628083 missense probably damaging 1.00
R4475:Dgkh UTSW 14 78589878 missense possibly damaging 0.80
R4965:Dgkh UTSW 14 78624421 missense probably damaging 1.00
R4970:Dgkh UTSW 14 78618637 missense probably damaging 1.00
R5071:Dgkh UTSW 14 78604532 missense probably damaging 1.00
R5652:Dgkh UTSW 14 78627761 missense probably damaging 1.00
R5726:Dgkh UTSW 14 78624902 missense probably benign 0.16
R5773:Dgkh UTSW 14 78595455 missense probably damaging 1.00
R5855:Dgkh UTSW 14 78624504 critical splice acceptor site probably null
R6041:Dgkh UTSW 14 78587627 missense probably damaging 1.00
R6192:Dgkh UTSW 14 78628064 nonsense probably null
R6868:Dgkh UTSW 14 78624853 missense probably damaging 0.99
R6981:Dgkh UTSW 14 78627742 nonsense probably null
R7095:Dgkh UTSW 14 78627784 missense probably benign 0.07
X0022:Dgkh UTSW 14 78595461 missense probably damaging 1.00
Posted On2016-08-02