Incidental Mutation 'IGL03233:Dgkk'
ID 413970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgkk
Ensembl Gene ENSMUSG00000062393
Gene Name diacylglycerol kinase kappa
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # IGL03233
Quality Score
Status
Chromosome X
Chromosomal Location 6691103-6814602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6770077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 352 (L352P)
Ref Sequence ENSEMBL: ENSMUSP00000067591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067410]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000067410
AA Change: L352P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067591
Gene: ENSMUSG00000062393
AA Change: L352P

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
PH 59 153 8.58e-13 SMART
C1 170 219 2.16e-6 SMART
C1 242 292 8.5e-5 SMART
DAGKc 334 459 1.4e-46 SMART
low complexity region 562 579 N/A INTRINSIC
low complexity region 647 658 N/A INTRINSIC
low complexity region 678 690 N/A INTRINSIC
DAGKa 703 860 2.44e-78 SMART
Predicted Effect unknown
Transcript: ENSMUST00000145302
AA Change: L295P
SMART Domains Protein: ENSMUSP00000123079
Gene: ENSMUSG00000062393
AA Change: L295P

DomainStartEndE-ValueType
PH 3 97 8.58e-13 SMART
C1 114 163 2.16e-6 SMART
C1 186 236 8.5e-5 SMART
DAGKc 278 403 1.4e-46 SMART
low complexity region 506 523 N/A INTRINSIC
low complexity region 591 602 N/A INTRINSIC
low complexity region 622 634 N/A INTRINSIC
DAGKa 647 804 2.44e-78 SMART
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 is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,260,357 (GRCm39) F856S probably damaging Het
Ak7 A G 12: 105,727,739 (GRCm39) D457G probably damaging Het
Ankrd26 G T 6: 118,512,107 (GRCm39) probably null Het
Ano5 C A 7: 51,220,116 (GRCm39) P405T probably damaging Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Atg4c A T 4: 99,117,740 (GRCm39) Y343F probably benign Het
Cab39 T A 1: 85,770,044 (GRCm39) M175K probably benign Het
Cadps2 T C 6: 23,263,600 (GRCm39) E1257G probably benign Het
Ces1d A G 8: 93,921,707 (GRCm39) Y19H probably benign Het
Cst6 T C 19: 5,399,289 (GRCm39) D25G probably damaging Het
Cyp4a30b A T 4: 115,316,167 (GRCm39) T298S probably benign Het
Dnai7 A T 6: 145,127,611 (GRCm39) Y433N probably damaging Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Esco1 A G 18: 10,574,877 (GRCm39) W208R probably damaging Het
Fbn2 T C 18: 58,235,449 (GRCm39) D676G probably benign Het
Foxp3 T C X: 7,453,662 (GRCm39) probably benign Het
Gpr108 T A 17: 57,552,042 (GRCm39) I123F probably benign Het
Gsdmc4 A T 15: 63,774,709 (GRCm39) V24E probably damaging Het
Jam3 C A 9: 27,013,217 (GRCm39) V118F probably damaging Het
Kif23 T A 9: 61,833,735 (GRCm39) I489F probably benign Het
Lama3 T A 18: 12,614,095 (GRCm39) V1288D probably damaging Het
Mark2 G T 19: 7,262,091 (GRCm39) H308N possibly damaging Het
Mms19 T C 19: 41,935,352 (GRCm39) probably null Het
Neb A T 2: 52,198,313 (GRCm39) I477N possibly damaging Het
Npm1 G T 11: 33,106,717 (GRCm39) Q204K probably benign Het
Nsun5 G A 5: 135,404,299 (GRCm39) V369M probably damaging Het
Or7a39 C A 10: 78,715,406 (GRCm39) Y133* probably null Het
Pcdhb13 T A 18: 37,577,318 (GRCm39) N565K probably damaging Het
Pla2r1 A G 2: 60,258,924 (GRCm39) F1155L possibly damaging Het
Pus10 T A 11: 23,662,241 (GRCm39) W304R probably damaging Het
Rab32 G A 10: 10,422,057 (GRCm39) Q221* probably null Het
Rlf A G 4: 121,039,797 (GRCm39) probably benign Het
Robo1 A T 16: 72,767,081 (GRCm39) I418F probably damaging Het
Slc44a2 T C 9: 21,259,918 (GRCm39) I642T possibly damaging Het
Ston2 T A 12: 91,614,627 (GRCm39) T594S probably damaging Het
Szt2 T C 4: 118,229,726 (GRCm39) T2802A unknown Het
Tshz3 T A 7: 36,469,504 (GRCm39) Y498N probably damaging Het
Zfp280b T A 10: 75,875,603 (GRCm39) I494N probably damaging Het
Zfp281 A G 1: 136,554,567 (GRCm39) Q515R possibly damaging Het
Other mutations in Dgkk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Dgkk APN X 6,772,697 (GRCm39) missense probably benign 0.08
R2224:Dgkk UTSW X 6,741,487 (GRCm39) missense probably damaging 1.00
R2226:Dgkk UTSW X 6,741,487 (GRCm39) missense probably damaging 1.00
R2227:Dgkk UTSW X 6,741,487 (GRCm39) missense probably damaging 1.00
R3687:Dgkk UTSW X 6,804,631 (GRCm39) splice site probably benign
R4664:Dgkk UTSW X 6,794,751 (GRCm39) missense probably benign 0.26
Posted On 2016-08-02