Incidental Mutation 'R3687:Dgkk'
ID 269597
Institutional Source Beutler Lab
Gene Symbol Dgkk
Ensembl Gene ENSMUSG00000062393
Gene Name diacylglycerol kinase kappa
Synonyms
MMRRC Submission 040683-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R3687 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 6691103-6814602 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 6804631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000067410]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000067410
SMART Domains Protein: ENSMUSP00000067591
Gene: ENSMUSG00000062393

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 probably benign
Transcript: ENSMUST00000145302
SMART Domains Protein: ENSMUSP00000123079
Gene: ENSMUSG00000062393

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 97% (38/39)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,432,506 (GRCm39) V115M probably damaging Het
Atp11c T C X: 59,327,004 (GRCm39) Y431C probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
B230307C23Rik T A 16: 97,810,199 (GRCm39) N62K probably benign Het
Bnip2 T A 9: 69,906,432 (GRCm39) Y118N probably damaging Het
Bptf C A 11: 106,965,024 (GRCm39) R1275L probably benign Het
C2cd3 C T 7: 100,085,040 (GRCm39) P1544L probably benign Het
Cd44 G A 2: 102,731,695 (GRCm39) probably null Het
Col10a1 A G 10: 34,271,494 (GRCm39) T489A probably benign Het
Efcab6 G A 15: 83,755,479 (GRCm39) Q1323* probably null Het
Eftud2 T C 11: 102,735,027 (GRCm39) E624G probably damaging Het
Elmo3 G A 8: 106,035,468 (GRCm39) probably null Het
Galnt13 A T 2: 54,770,074 (GRCm39) T289S probably benign Het
Gm16485 T C 9: 8,972,382 (GRCm39) probably benign Het
Gm43302 A T 5: 105,428,132 (GRCm39) V143D probably damaging Het
Gpr18 T C 14: 122,149,873 (GRCm39) T51A probably damaging Het
Hr T A 14: 70,795,236 (GRCm39) N289K probably damaging Het
Ighv1-24 T A 12: 114,736,700 (GRCm39) I67F probably damaging Het
Ksr2 A G 5: 117,693,044 (GRCm39) Q164R probably damaging Het
Myo3b A G 2: 70,075,658 (GRCm39) E554G probably benign Het
Or10u4 A T 10: 129,802,581 (GRCm39) probably null Het
Or5b99 G A 19: 12,976,466 (GRCm39) G39R probably damaging Het
Or8b101 A G 9: 38,020,177 (GRCm39) Y60C probably damaging Het
Pclo A G 5: 14,719,009 (GRCm39) T1049A unknown Het
Pkhd1l1 T C 15: 44,409,983 (GRCm39) S2497P probably benign Het
Ppm1f T C 16: 16,741,747 (GRCm39) V407A probably damaging Het
Ppox A G 1: 171,105,066 (GRCm39) L374S probably damaging Het
Prkdc T C 16: 15,617,831 (GRCm39) Y3221H probably benign Het
Ptprk A T 10: 28,349,039 (GRCm39) I520F probably damaging Het
Pus10 T C 11: 23,617,334 (GRCm39) F16L probably benign Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rab3d A T 9: 21,826,204 (GRCm39) M101K probably damaging Het
Rangap1 A T 15: 81,602,963 (GRCm39) M154K possibly damaging Het
Slc25a17 A G 15: 81,211,485 (GRCm39) F177S probably benign Het
Tas2r114 T C 6: 131,666,231 (GRCm39) T266A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trem3 T A 17: 48,564,955 (GRCm39) V152D probably damaging Het
Vmn2r4 T A 3: 64,296,896 (GRCm39) I630F possibly damaging Het
Vwa5b2 C A 16: 20,410,308 (GRCm39) probably benign Het
Zfp518b A T 5: 38,831,455 (GRCm39) H183Q probably damaging Het
Other mutations in Dgkk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Dgkk APN X 6,772,697 (GRCm39) missense probably benign 0.08
IGL03233:Dgkk APN X 6,770,077 (GRCm39) missense probably damaging 1.00
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
R4664:Dgkk UTSW X 6,794,751 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- CTTTTGCACCTACAGCCATG -3'
(R):5'- TGGAGTAGCATAGCACATACAGTAG -3'

Sequencing Primer
(F):5'- ACAGTTCCTACCTTCCTATGGAGAAG -3'
(R):5'- GCACATACAGTAGCATATTCAGGTG -3'
Posted On 2015-02-19