Incidental Mutation 'IGL02987:Dgkh'
ID406782
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? Non essential (E-score: 0.000) question?
Stock #IGL02987
Quality Score
Status
Chromosome14
Chromosomal Location78558750-78732776 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 78589872 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 null
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 null
Transcript: ENSMUST00000226342
Predicted Effect probably benign
Transcript: ENSMUST00000227537
Predicted Effect probably null
Transcript: ENSMUST00000227767
Predicted Effect probably null
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 T C 13: 4,593,592 D222G probably damaging Het
Apbb1ip T A 2: 22,867,637 Y422* probably null Het
Asf1a T C 10: 53,597,271 F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,562 M319K possibly damaging Het
Bsn A G 9: 108,126,304 S301P probably benign Het
Cds1 A G 5: 101,812,525 I281V possibly damaging Het
Col4a4 T C 1: 82,498,925 probably benign Het
Coq2 G A 5: 100,663,688 Q103* probably null Het
Dnah9 A G 11: 65,855,272 I4005T probably damaging Het
Dnah9 C A 11: 65,841,273 R4269L probably benign Het
F2rl1 T A 13: 95,514,233 Q47L probably benign Het
Fhod3 T C 18: 25,113,553 V1272A possibly damaging Het
Gdpd4 T C 7: 97,961,551 probably benign Het
Gfral A G 9: 76,197,301 V143A possibly damaging Het
Gltp A C 5: 114,674,182 F88V probably benign Het
Hectd1 T G 12: 51,744,767 K2565T probably damaging Het
Jade2 A G 11: 51,830,481 S207P probably damaging Het
Khdc3 A G 9: 73,102,666 I53V possibly damaging Het
Lce1a1 T C 3: 92,647,102 T22A unknown Het
Lgals9 A T 11: 78,967,477 H196Q possibly damaging Het
Lrrc37a A T 11: 103,500,413 N1395K probably benign Het
Mast1 C T 8: 84,925,719 V268I possibly damaging Het
Myh11 T G 16: 14,232,532 E523A probably damaging Het
Napb T C 2: 148,697,511 probably null Het
Nlrp4e G A 7: 23,301,433 R51H probably damaging Het
Ola1 T C 2: 73,156,898 D130G probably benign Het
Olfr891 A T 9: 38,180,623 S67T possibly damaging Het
Pard3 G A 8: 127,389,491 C687Y probably damaging Het
Rassf9 A G 10: 102,545,248 T164A possibly damaging Het
Sema3a A G 5: 13,565,896 Y429C probably damaging Het
Slc25a54 T C 3: 109,116,337 V416A probably benign Het
Slc30a5 T C 13: 100,803,915 T631A probably damaging Het
Sorl1 A T 9: 42,041,053 C736S probably damaging Het
Tet3 A T 6: 83,368,092 S1788T probably damaging Het
Trim42 A G 9: 97,365,815 V276A probably benign 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
IGL03058:Dgkh APN 14 78627797 missense probably benign 0.23
IGL03341:Dgkh APN 14 78595491 splice site probably benign
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
R7473:Dgkh UTSW 14 78599043 missense probably benign 0.00
R7495:Dgkh UTSW 14 78578799 missense probably benign
R7711:Dgkh UTSW 14 78725019 missense probably benign
R7727:Dgkh UTSW 14 78595145 critical splice donor site probably null
R7823:Dgkh UTSW 14 78604481 missense probably benign
R7846:Dgkh UTSW 14 78618586 missense probably damaging 0.99
R7967:Dgkh UTSW 14 78619816 missense probably benign 0.10
R8085:Dgkh UTSW 14 78587118 critical splice donor site probably null
R8285:Dgkh UTSW 14 78628126 missense probably benign 0.18
X0022:Dgkh UTSW 14 78595461 missense probably damaging 1.00
Posted On2016-08-02