Incidental Mutation 'R2227:Dgkk'
ID 239818
Institutional Source Beutler Lab
Gene Symbol Dgkk
Ensembl Gene ENSMUSG00000062393
Gene Name diacylglycerol kinase kappa
Synonyms
MMRRC Submission 040228-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R2227 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 6691103-6814602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6741487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 102 (D102E)
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: D102E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067591
Gene: ENSMUSG00000062393
AA Change: D102E

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: D45E
SMART Domains Protein: ENSMUSP00000123079
Gene: ENSMUSG00000062393
AA Change: D45E

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: 94.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563I02Rik T A 14: 60,325,668 (GRCm39) probably benign Het
Abtb1 A C 6: 88,813,349 (GRCm39) L439R probably damaging Het
Adcy10 A G 1: 165,345,829 (GRCm39) T293A probably damaging Het
Agl A T 3: 116,581,961 (GRCm39) V306D possibly damaging Het
Alpk2 T A 18: 65,511,147 (GRCm39) T17S probably damaging Het
Ar T A X: 97,194,937 (GRCm39) M517K probably benign Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
BB014433 C A 8: 15,091,717 (GRCm39) A379S probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Ccl2 G T 11: 81,927,427 (GRCm39) probably null Het
Cct2 T C 10: 116,888,922 (GRCm39) R526G probably null Het
Cep55 T C 19: 38,051,082 (GRCm39) M164T probably benign Het
Clec2d G A 6: 129,161,214 (GRCm39) A104T probably benign Het
Cyp3a11 A G 5: 145,805,357 (GRCm39) L220P possibly damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Exoc2 T A 13: 31,048,867 (GRCm39) I729L probably benign Het
Fbxl20 T C 11: 97,981,675 (GRCm39) I338V probably benign Het
Gucy2c G A 6: 136,679,758 (GRCm39) T943I probably damaging Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Il17rb A T 14: 29,728,038 (GRCm39) S56R probably benign Het
Knl1 A G 2: 118,902,481 (GRCm39) D1394G probably damaging Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Krt6b A G 15: 101,587,557 (GRCm39) V179A probably damaging Het
Lpar5 A T 6: 125,058,098 (GRCm39) probably null Het
Marchf7 A G 2: 60,060,190 (GRCm39) R106G probably benign Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Myl1 T C 1: 66,983,974 (GRCm39) K31E possibly damaging Het
Myt1l T A 12: 29,876,969 (GRCm39) L207I unknown Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Pkhd1l1 T C 15: 44,376,188 (GRCm39) I950T possibly damaging Het
Ppp1r9a G T 6: 5,154,074 (GRCm39) R1081L probably benign Het
Rc3h1 T C 1: 160,791,112 (GRCm39) I932T probably benign Het
Rubcnl G A 14: 75,279,832 (GRCm39) R405Q probably benign Het
Saxo5 A G 8: 3,529,249 (GRCm39) T245A probably benign Het
Sgsm3 A G 15: 80,888,069 (GRCm39) E53G probably damaging Het
Slco1a8 T G 6: 141,938,087 (GRCm39) E277D possibly damaging Het
Spin2g A T X: 33,656,599 (GRCm39) I171N possibly damaging Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Thoc2l T A 5: 104,667,286 (GRCm39) Y603N probably damaging Het
Tnn A T 1: 159,975,035 (GRCm39) C131S probably damaging Het
Tnnt2 A G 1: 135,771,529 (GRCm39) probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn1r86 T C 7: 12,836,847 (GRCm39) I10V probably benign Het
Xpot T C 10: 121,458,765 (GRCm39) R20G probably damaging Het
Zfp735 T A 11: 73,602,222 (GRCm39) L389I possibly damaging Het
Zfp735 T G 11: 73,602,223 (GRCm39) L389* probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGCCCTTAAGACAAATACTGGTTG -3'
(R):5'- CTGTCCTGTCTATCACTAGGCTAG -3'

Sequencing Primer
(F):5'- CAAATACTGGTTGGATCATAACTGC -3'
(R):5'- CATTTTGCAATCAAAGAAGACTCC -3'
Posted On 2014-10-15