Incidental Mutation 'R0312:Dgkz'
ID 25250
Institutional Source Beutler Lab
Gene Symbol Dgkz
Ensembl Gene ENSMUSG00000040479
Gene Name diacylglycerol kinase zeta
Synonyms mDGK[z], E130307B02Rik
MMRRC Submission 038522-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0312 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 91763169-91806209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91768684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 699 (I699N)
Ref Sequence ENSEMBL: ENSMUSP00000106934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000128152] [ENSMUST00000142231] [ENSMUST00000142090]
AlphaFold Q80UP3
Predicted Effect probably damaging
Transcript: ENSMUST00000028667
AA Change: I505N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: I505N

DomainStartEndE-ValueType
low complexity region 3 30 N/A INTRINSIC
low complexity region 66 75 N/A INTRINSIC
C1 96 153 2.67e-1 SMART
C1 173 231 8.18e-7 SMART
low complexity region 257 274 N/A INTRINSIC
DAGKc 296 420 4.61e-65 SMART
DAGKa 447 604 2.75e-95 SMART
low complexity region 762 780 N/A INTRINSIC
ANK 823 853 8.52e-4 SMART
ANK 858 887 2.18e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099709
AA Change: I522N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: I522N

DomainStartEndE-ValueType
low complexity region 2 38 N/A INTRINSIC
low complexity region 83 92 N/A INTRINSIC
C1 113 170 2.67e-1 SMART
C1 190 248 8.18e-7 SMART
low complexity region 274 291 N/A INTRINSIC
DAGKc 313 437 4.61e-65 SMART
DAGKa 464 621 2.75e-95 SMART
low complexity region 779 797 N/A INTRINSIC
ANK 840 870 8.52e-4 SMART
ANK 875 904 2.18e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111303
AA Change: I699N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: I699N

DomainStartEndE-ValueType
low complexity region 39 58 N/A INTRINSIC
low complexity region 66 81 N/A INTRINSIC
low complexity region 100 113 N/A INTRINSIC
low complexity region 118 133 N/A INTRINSIC
low complexity region 200 214 N/A INTRINSIC
low complexity region 260 269 N/A INTRINSIC
C1 290 347 2.67e-1 SMART
C1 367 425 8.18e-7 SMART
low complexity region 451 468 N/A INTRINSIC
DAGKc 490 614 4.61e-65 SMART
DAGKa 641 798 2.75e-95 SMART
low complexity region 956 974 N/A INTRINSIC
ANK 1017 1047 8.52e-4 SMART
ANK 1052 1081 2.18e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126473
Predicted Effect probably benign
Transcript: ENSMUST00000128152
SMART Domains Protein: ENSMUSP00000118684
Gene: ENSMUSG00000040479

DomainStartEndE-ValueType
low complexity region 32 41 N/A INTRINSIC
Blast:C1 62 114 9e-33 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128902
Predicted Effect probably benign
Transcript: ENSMUST00000142231
SMART Domains Protein: ENSMUSP00000114740
Gene: ENSMUSG00000040479

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142090
Meta Mutation Damage Score 0.8839 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 90.3%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]
PHENOTYPE: The T cell response is enhanced in homozygous mutant mice, which showed a robust response to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G T 12: 118,836,572 (GRCm39) A1113D probably damaging Het
Adcy1 G T 11: 7,099,538 (GRCm39) A673S probably benign Het
Apob T A 12: 8,059,034 (GRCm39) H2505Q probably benign Het
Arhgap12 A G 18: 6,061,982 (GRCm39) probably benign Het
Bcl9 C T 3: 97,116,727 (GRCm39) E656K probably benign Het
Bnc1 C T 7: 81,627,072 (GRCm39) R106H possibly damaging Het
Ccdc54 T C 16: 50,411,165 (GRCm39) K34E possibly damaging Het
Cfap65 G A 1: 74,943,226 (GRCm39) R1600W probably damaging Het
Csmd1 A T 8: 16,034,760 (GRCm39) N2470K probably damaging Het
Cspp1 T C 1: 10,129,054 (GRCm39) probably benign Het
Dhx40 G A 11: 86,662,775 (GRCm39) T639I probably damaging Het
Dlg1 A G 16: 31,609,085 (GRCm39) T227A probably benign Het
Dnah10 G A 5: 124,873,433 (GRCm39) probably benign Het
Dnah3 T A 7: 119,644,882 (GRCm39) K1133M probably damaging Het
Dock5 G C 14: 68,033,440 (GRCm39) F976L possibly damaging Het
Evc C T 5: 37,485,885 (GRCm39) C97Y possibly damaging Het
Fbxw7 T C 3: 84,874,876 (GRCm39) probably benign Het
Fggy A C 4: 95,732,422 (GRCm39) D112A probably damaging Het
Fpgs A G 2: 32,574,813 (GRCm39) Y435H probably damaging Het
Fryl T A 5: 73,230,231 (GRCm39) H1642L probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gda T A 19: 21,394,369 (GRCm39) I237F probably damaging Het
Glt1d1 A G 5: 127,768,134 (GRCm39) N247S probably damaging Het
Gm7647 T C 5: 95,110,839 (GRCm39) S7P probably benign Het
Gpr31b C T 17: 13,270,498 (GRCm39) V224I probably damaging Het
Hlf G A 11: 90,278,701 (GRCm39) P121L possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ism1 G T 2: 139,520,592 (GRCm39) M1I probably null Het
Kansl1l T C 1: 66,817,265 (GRCm39) N365S probably null Het
Lama1 T C 17: 68,082,846 (GRCm39) L1368P possibly damaging Het
Lima1 A G 15: 99,678,968 (GRCm39) V491A possibly damaging Het
Lrch1 G T 14: 75,185,034 (GRCm39) H23N possibly damaging Het
Lrp1b A G 2: 41,172,183 (GRCm39) V1488A probably damaging Het
Lrp8 T C 4: 107,664,052 (GRCm39) probably benign Het
Lrrc8e A G 8: 4,285,733 (GRCm39) S653G probably benign Het
Mnat1 A G 12: 73,228,558 (GRCm39) T141A possibly damaging Het
Mpeg1 C A 19: 12,439,767 (GRCm39) N408K probably damaging Het
Myo7b T C 18: 32,147,390 (GRCm39) E51G possibly damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naa35 A G 13: 59,757,395 (GRCm39) T257A probably benign Het
Obox5 T A 7: 15,491,485 (GRCm39) H8Q probably damaging Het
Or1j4 A T 2: 36,740,372 (GRCm39) I105L probably benign Het
Or51q1c T C 7: 103,653,232 (GRCm39) V250A probably damaging Het
Or5h26 A T 16: 58,988,202 (GRCm39) F101L probably benign Het
Phldb2 G T 16: 45,609,410 (GRCm39) T732N probably damaging Het
Phyhip G T 14: 70,704,410 (GRCm39) A210S possibly damaging Het
Pik3r4 A G 9: 105,563,409 (GRCm39) D1262G probably damaging Het
Pip G A 6: 41,826,798 (GRCm39) E48K possibly damaging Het
Plk4 C T 3: 40,767,982 (GRCm39) L74F probably damaging Het
Prdm14 G A 1: 13,189,031 (GRCm39) R438W probably damaging Het
Rab19 G A 6: 39,361,023 (GRCm39) R57H probably benign Het
Rtl1 G T 12: 109,556,661 (GRCm39) P1726Q probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Skint6 A T 4: 112,666,297 (GRCm39) V1176D possibly damaging Het
Slc12a1 A G 2: 125,067,948 (GRCm39) I1012V probably damaging Het
Slc1a3 C T 15: 8,665,721 (GRCm39) M509I probably benign Het
Spata18 G A 5: 73,824,224 (GRCm39) G35E probably benign Het
Spata31h1 A T 10: 82,120,203 (GRCm39) I4269N probably damaging Het
Sspo C T 6: 48,432,335 (GRCm39) P801L possibly damaging Het
Ugt2b37 C T 5: 87,398,524 (GRCm39) G304D probably damaging Het
Vmn2r25 A T 6: 123,805,539 (GRCm39) probably benign Het
Xrcc6 C A 15: 81,911,423 (GRCm39) probably null Het
Other mutations in Dgkz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Dgkz APN 2 91,766,210 (GRCm39) missense probably benign 0.00
IGL01995:Dgkz APN 2 91,764,395 (GRCm39) splice site probably benign
IGL02247:Dgkz APN 2 91,767,805 (GRCm39) missense probably benign 0.00
IGL02573:Dgkz APN 2 91,764,542 (GRCm39) missense probably damaging 0.98
IGL02627:Dgkz APN 2 91,769,055 (GRCm39) splice site probably benign
IGL02903:Dgkz APN 2 91,770,307 (GRCm39) missense possibly damaging 0.45
IGL03106:Dgkz APN 2 91,771,204 (GRCm39) missense probably damaging 0.99
R0103:Dgkz UTSW 2 91,764,550 (GRCm39) missense probably benign
R0761:Dgkz UTSW 2 91,775,696 (GRCm39) missense probably benign 0.00
R0839:Dgkz UTSW 2 91,765,456 (GRCm39) missense probably benign 0.00
R1162:Dgkz UTSW 2 91,774,789 (GRCm39) missense probably damaging 1.00
R1223:Dgkz UTSW 2 91,769,660 (GRCm39) splice site probably benign
R1539:Dgkz UTSW 2 91,768,405 (GRCm39) missense probably damaging 1.00
R1934:Dgkz UTSW 2 91,767,449 (GRCm39) missense possibly damaging 0.92
R1936:Dgkz UTSW 2 91,768,323 (GRCm39) missense possibly damaging 0.94
R3438:Dgkz UTSW 2 91,764,395 (GRCm39) splice site probably benign
R3804:Dgkz UTSW 2 91,769,975 (GRCm39) missense probably benign 0.06
R4675:Dgkz UTSW 2 91,768,691 (GRCm39) nonsense probably null
R4731:Dgkz UTSW 2 91,768,684 (GRCm39) missense probably damaging 1.00
R4732:Dgkz UTSW 2 91,768,684 (GRCm39) missense probably damaging 1.00
R4733:Dgkz UTSW 2 91,768,684 (GRCm39) missense probably damaging 1.00
R4901:Dgkz UTSW 2 91,767,076 (GRCm39) missense probably benign
R4972:Dgkz UTSW 2 91,776,047 (GRCm39) missense probably benign 0.00
R5027:Dgkz UTSW 2 91,775,888 (GRCm39) missense probably benign 0.02
R5128:Dgkz UTSW 2 91,773,028 (GRCm39) missense probably damaging 1.00
R5408:Dgkz UTSW 2 91,766,168 (GRCm39) missense possibly damaging 0.91
R5494:Dgkz UTSW 2 91,771,394 (GRCm39) splice site probably null
R5728:Dgkz UTSW 2 91,776,132 (GRCm39) missense possibly damaging 0.93
R5813:Dgkz UTSW 2 91,769,733 (GRCm39) missense possibly damaging 0.50
R6025:Dgkz UTSW 2 91,776,255 (GRCm39) missense possibly damaging 0.75
R6043:Dgkz UTSW 2 91,766,234 (GRCm39) missense probably benign 0.03
R6328:Dgkz UTSW 2 91,772,980 (GRCm39) missense probably benign 0.04
R6335:Dgkz UTSW 2 91,774,724 (GRCm39) missense probably benign 0.16
R7381:Dgkz UTSW 2 91,775,180 (GRCm39) missense probably benign 0.02
R7541:Dgkz UTSW 2 91,773,020 (GRCm39) missense probably damaging 1.00
R7560:Dgkz UTSW 2 91,773,160 (GRCm39) unclassified probably benign
R7608:Dgkz UTSW 2 91,764,399 (GRCm39) critical splice donor site probably null
R7624:Dgkz UTSW 2 91,773,019 (GRCm39) missense probably damaging 1.00
R7709:Dgkz UTSW 2 91,767,404 (GRCm39) missense probably benign 0.02
R7938:Dgkz UTSW 2 91,795,817 (GRCm39) missense probably damaging 0.96
R8183:Dgkz UTSW 2 91,769,937 (GRCm39) missense probably damaging 1.00
R8233:Dgkz UTSW 2 91,769,994 (GRCm39) missense probably damaging 1.00
R8415:Dgkz UTSW 2 91,770,649 (GRCm39) missense possibly damaging 0.80
R8416:Dgkz UTSW 2 91,770,649 (GRCm39) missense possibly damaging 0.80
R8757:Dgkz UTSW 2 91,775,922 (GRCm39) missense probably benign
R8759:Dgkz UTSW 2 91,775,922 (GRCm39) missense probably benign
R8930:Dgkz UTSW 2 91,769,915 (GRCm39) missense probably damaging 0.99
R8932:Dgkz UTSW 2 91,769,915 (GRCm39) missense probably damaging 0.99
R9005:Dgkz UTSW 2 91,769,090 (GRCm39) missense probably benign 0.34
R9120:Dgkz UTSW 2 91,768,545 (GRCm39) missense probably benign 0.00
R9205:Dgkz UTSW 2 91,764,144 (GRCm39) missense probably benign 0.31
R9719:Dgkz UTSW 2 91,768,911 (GRCm39) critical splice acceptor site probably null
RF001:Dgkz UTSW 2 91,770,286 (GRCm39) missense possibly damaging 0.83
X0002:Dgkz UTSW 2 91,766,907 (GRCm39) missense probably damaging 0.97
X0021:Dgkz UTSW 2 91,767,464 (GRCm39) missense possibly damaging 0.91
Z1177:Dgkz UTSW 2 91,772,679 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAGGTAGCCATCATCATGCCTC -3'
(R):5'- CCAGCCTCCTTTATGCAAGTCACAG -3'

Sequencing Primer
(F):5'- GTGCCTGCACAGTACCTAAG -3'
(R):5'- TTTATGCAAGTCACAGGAGCC -3'
Posted On 2013-04-16