Incidental Mutation 'IGL01941:Dgkd'
ID181146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgkd
Ensembl Gene ENSMUSG00000070738
Gene Namediacylglycerol kinase, delta
Synonymsdgkd-2, DGKdelta, AI841987, D330025K09
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.755) question?
Stock #IGL01941
Quality Score
Status
Chromosome1
Chromosomal Location87853287-87945180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87924559 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 472 (S472P)
Ref Sequence ENSEMBL: ENSMUSP00000027517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027517]
Predicted Effect probably damaging
Transcript: ENSMUST00000027517
AA Change: S472P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: S472P

DomainStartEndE-ValueType
low complexity region 2 36 N/A INTRINSIC
PH 54 148 1.7e-16 SMART
C1 164 213 2.48e-15 SMART
low complexity region 221 232 N/A INTRINSIC
C1 236 286 8.56e-10 SMART
DAGKc 321 446 9.44e-62 SMART
low complexity region 691 710 N/A INTRINSIC
DAGKa 765 922 1.25e-98 SMART
low complexity region 1128 1139 N/A INTRINSIC
SAM 1148 1214 2.16e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191589
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 cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are born with open eyelids and reduced body size, develop respiratory distress and die within 24 hrs of birth. Half of mice homozygous for a hypomorphic gene trap allele exhibit abnormal epileptic discharges and seizureswhile 9% of aging homozygotes develop tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,044,801 L123Q probably benign Het
Abca2 C T 2: 25,443,095 S1602F probably benign Het
Abcc9 C A 6: 142,605,904 C1191F probably damaging Het
Adam3 G T 8: 24,681,446 probably benign Het
Aldh1l1 G T 6: 90,562,695 G202V probably damaging Het
Ankrd46 T C 15: 36,485,937 N57D possibly damaging Het
Asic1 A T 15: 99,699,101 H548L possibly damaging Het
Atpaf2 A G 11: 60,403,898 I233T probably benign Het
Ccdc129 A G 6: 55,968,045 R584G probably benign Het
Ccdc185 G T 1: 182,748,204 Q307K probably benign Het
Cep120 T C 18: 53,723,148 D399G probably benign Het
Cnn2 G A 10: 79,992,554 V122M probably benign Het
Dock5 A C 14: 67,812,232 I701S probably damaging Het
Efl1 A G 7: 82,697,976 E570G probably benign Het
Eln G A 5: 134,718,170 probably benign Het
Fat2 A G 11: 55,312,005 V81A probably benign Het
Fbxw21 T G 9: 109,148,156 I162L probably benign Het
Fhl2 G A 1: 43,131,672 Q161* probably null Het
Gabrg2 A G 11: 41,971,721 Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm7714 A G 5: 88,282,442 S66G probably benign Het
Grik5 A T 7: 25,065,182 I152N probably damaging Het
H2-Ab1 A T 17: 34,267,434 K156* probably null Het
Hecw1 T C 13: 14,316,310 Y699C probably benign Het
Ipo9 A C 1: 135,408,073 V202G possibly damaging Het
Jmjd6 A T 11: 116,841,358 probably null Het
Lama5 A G 2: 180,192,392 I1416T possibly damaging Het
Matn1 T C 4: 130,952,261 probably benign Het
Mavs T C 2: 131,246,605 V443A probably damaging Het
Mpdz A T 4: 81,286,387 S1798R possibly damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Olfr1251 A T 2: 89,667,468 C139* probably null Het
Otud7b G T 3: 96,155,459 G672C probably benign Het
Palld T A 8: 61,535,700 T572S probably benign Het
Pde6b T A 5: 108,423,036 V379E probably benign Het
Peak1 A G 9: 56,258,775 V623A probably damaging Het
Prr12 C T 7: 45,048,659 probably benign Het
Rxra T C 2: 27,754,241 I315T probably damaging Het
Slc11a1 C T 1: 74,377,179 A55V probably damaging Het
Slitrk3 T C 3: 73,051,071 N123D possibly damaging Het
Spcs1 A G 14: 31,000,872 M82T probably damaging Het
Sspo A G 6: 48,495,182 E113G probably benign Het
Syne2 A G 12: 75,967,220 K3062E probably benign Het
Traf3ip2 T C 10: 39,634,660 S310P probably benign Het
Ubp1 T C 9: 113,956,758 L167S probably damaging Het
Vmn1r196 T A 13: 22,293,699 C169* probably null Het
Vmn1r223 T A 13: 23,250,237 F334I possibly damaging Het
Vmn2r10 A T 5: 108,995,954 I710N probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr26 A G 1: 181,211,070 probably benign Het
Wnt7a A G 6: 91,394,663 F106L probably benign Het
Zfp940 C T 7: 29,846,870 V34M probably damaging Het
Other mutations in Dgkd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Dgkd APN 1 87880411 missense probably damaging 1.00
IGL01531:Dgkd APN 1 87880411 missense probably damaging 1.00
IGL01627:Dgkd APN 1 87880428 missense probably damaging 1.00
IGL01720:Dgkd APN 1 87936765 missense probably damaging 1.00
IGL01915:Dgkd APN 1 87926058 missense possibly damaging 0.86
IGL01951:Dgkd APN 1 87916916 missense probably damaging 1.00
IGL02244:Dgkd APN 1 87915141 missense probably benign 0.27
IGL02581:Dgkd APN 1 87918002 splice site probably benign
IGL02852:Dgkd APN 1 87935413 missense probably damaging 1.00
IGL02893:Dgkd APN 1 87915208 splice site probably benign
IGL03367:Dgkd APN 1 87940308 critical splice donor site probably null
R0014:Dgkd UTSW 1 87881881 missense probably damaging 1.00
R0016:Dgkd UTSW 1 87917952 missense probably benign 0.02
R0219:Dgkd UTSW 1 87938274 splice site probably benign
R0496:Dgkd UTSW 1 87936900 missense probably null 0.83
R0559:Dgkd UTSW 1 87915104 missense probably damaging 1.00
R0591:Dgkd UTSW 1 87915104 missense probably damaging 1.00
R1270:Dgkd UTSW 1 87934125 missense probably damaging 0.96
R1599:Dgkd UTSW 1 87881886 missense possibly damaging 0.58
R1658:Dgkd UTSW 1 87926268 missense probably damaging 1.00
R1745:Dgkd UTSW 1 87932044 critical splice donor site probably null
R1959:Dgkd UTSW 1 87929827 missense possibly damaging 0.47
R1960:Dgkd UTSW 1 87929827 missense possibly damaging 0.47
R2044:Dgkd UTSW 1 87927691 missense probably benign
R2148:Dgkd UTSW 1 87881921 missense probably damaging 1.00
R2232:Dgkd UTSW 1 87929742 missense probably benign 0.05
R2266:Dgkd UTSW 1 87927818 unclassified probably benign
R3774:Dgkd UTSW 1 87936300 missense probably damaging 1.00
R4004:Dgkd UTSW 1 87935423 missense possibly damaging 0.56
R4005:Dgkd UTSW 1 87935423 missense possibly damaging 0.56
R4133:Dgkd UTSW 1 87941501 critical splice donor site probably null
R4235:Dgkd UTSW 1 87931982 nonsense probably null
R4644:Dgkd UTSW 1 87936294 missense probably damaging 1.00
R4747:Dgkd UTSW 1 87934167 missense probably damaging 1.00
R4864:Dgkd UTSW 1 87916838 missense possibly damaging 0.94
R5334:Dgkd UTSW 1 87938267 critical splice donor site probably null
R5365:Dgkd UTSW 1 87935416 missense probably damaging 1.00
R5495:Dgkd UTSW 1 87926872 missense probably damaging 1.00
R5514:Dgkd UTSW 1 87934110 missense probably damaging 1.00
R5729:Dgkd UTSW 1 87936332 nonsense probably null
R5766:Dgkd UTSW 1 87880449 nonsense probably null
R6133:Dgkd UTSW 1 87938240 missense possibly damaging 0.93
R6137:Dgkd UTSW 1 87936381 missense possibly damaging 0.48
R6198:Dgkd UTSW 1 87924208 missense probably damaging 1.00
R6297:Dgkd UTSW 1 87926144 missense possibly damaging 0.94
R6577:Dgkd UTSW 1 87940240 missense probably damaging 1.00
R6846:Dgkd UTSW 1 87925691 splice site probably null
R6905:Dgkd UTSW 1 87935375 missense probably damaging 1.00
R7369:Dgkd UTSW 1 87921622 missense probably damaging 1.00
R7763:Dgkd UTSW 1 87926949 missense probably benign
Z1176:Dgkd UTSW 1 87927810 missense probably benign 0.05
Z1177:Dgkd UTSW 1 87916886 missense probably damaging 0.99
Posted On2014-05-07