Incidental Mutation 'R5408:Dgkz'
ID 475498
Institutional Source Beutler Lab
Gene Symbol Dgkz
Ensembl Gene ENSMUSG00000040479
Gene Name diacylglycerol kinase zeta
Synonyms mDGK[z], E130307B02Rik
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5408 (G1)
Quality Score 94
Status Validated
Chromosome 2
Chromosomal Location 91763169-91806209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91766168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 798 (G798W)
Ref Sequence ENSEMBL: ENSMUSP00000106937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000028672] [ENSMUST00000069423] [ENSMUST00000090602] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000142231] [ENSMUST00000128152] [ENSMUST00000142090] [ENSMUST00000111309]
AlphaFold Q80UP3
Predicted Effect possibly damaging
Transcript: ENSMUST00000028667
AA Change: G781W

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: G781W

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 benign
Transcript: ENSMUST00000028672
SMART Domains Protein: ENSMUSP00000028672
Gene: ENSMUSG00000027239

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
PTN 34 113 4.2e-53 SMART
low complexity region 120 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069423
SMART Domains Protein: ENSMUSP00000068413
Gene: ENSMUSG00000027239

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
PTN 34 113 4.2e-53 SMART
low complexity region 120 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090602
SMART Domains Protein: ENSMUSP00000088090
Gene: ENSMUSG00000027239

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
PTN 34 113 4.2e-53 SMART
low complexity region 120 139 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000099709
AA Change: G798W

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: G798W

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 possibly damaging
Transcript: ENSMUST00000111303
AA Change: G975W

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: G975W

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 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: 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: ENSMUST00000130023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128902
Predicted Effect probably benign
Transcript: ENSMUST00000142090
Predicted Effect probably benign
Transcript: ENSMUST00000111309
SMART Domains Protein: ENSMUSP00000106941
Gene: ENSMUSG00000027239

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
PTN 34 113 4.2e-53 SMART
low complexity region 120 139 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly damaging 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
R0312:Dgkz UTSW 2 91,768,684 (GRCm39) missense probably damaging 1.00
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
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'- ACTTGCACTTTCAGGCCTG -3'
(R):5'- ACTGGAAACTAAGGGCCGTG -3'

Sequencing Primer
(F):5'- TGCACTTTCAGGCCTGGAGAC -3'
(R):5'- AGCACGGACGGACGGAC -3'
Posted On 2017-05-02