Incidental Mutation 'R0103:Dgkz'
ID 34448
Institutional Source Beutler Lab
Gene Symbol Dgkz
Ensembl Gene ENSMUSG00000040479
Gene Name diacylglycerol kinase zeta
Synonyms mDGK[z], E130307B02Rik
MMRRC Submission 038389-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0103 (G1)
Quality Score 195
Status Validated (trace)
Chromosome 2
Chromosomal Location 91763169-91806209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91764550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1028 (T1028A)
Ref Sequence ENSEMBL: ENSMUSP00000106934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000028672] [ENSMUST00000069423] [ENSMUST00000090602] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000142231] [ENSMUST00000128152] [ENSMUST00000111309]
AlphaFold Q80UP3
Predicted Effect probably benign
Transcript: ENSMUST00000028667
AA Change: T834A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: T834A

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 probably benign
Transcript: ENSMUST00000099709
AA Change: T851A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: T851A

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 benign
Transcript: ENSMUST00000111303
AA Change: T1028A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: T1028A

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: ENSMUST00000148297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138894
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 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 0.0723 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 99% (84/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,223,951 (GRCm39) R443S probably damaging Het
Anapc1 T C 2: 128,522,372 (GRCm39) probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arfgap3 A T 15: 83,206,922 (GRCm39) probably benign Het
Asah2 G T 19: 31,996,377 (GRCm39) H374N probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Ccdc106 C A 7: 5,060,544 (GRCm39) Q35K probably benign Het
Ccm2l G T 2: 152,909,839 (GRCm39) E64* probably null Het
Cep85l A T 10: 53,154,270 (GRCm39) D776E possibly damaging Het
Cfap52 T A 11: 67,815,951 (GRCm39) I611F possibly damaging Het
Cldn22 C T 8: 48,277,589 (GRCm39) T9M probably benign Het
Coa7 T C 4: 108,195,338 (GRCm39) L89P possibly damaging Het
Cox7a2l A T 17: 83,821,701 (GRCm39) Y2N probably damaging Het
Ctns A C 11: 73,076,137 (GRCm39) I299M probably damaging Het
Cyp27a1 A C 1: 74,775,074 (GRCm39) E301A probably benign Het
Cyp2b13 A T 7: 25,788,135 (GRCm39) K421M probably damaging Het
Cyp4f40 G T 17: 32,895,282 (GRCm39) C468F probably damaging Het
Cyp4f40 C A 17: 32,895,283 (GRCm39) C468* probably null Het
Dcun1d5 G A 9: 7,188,788 (GRCm39) C74Y probably damaging Het
Dennd4c A G 4: 86,730,683 (GRCm39) Y860C probably benign Het
Dhx58 T C 11: 100,586,096 (GRCm39) T642A probably damaging Het
Dlg4 A G 11: 69,922,019 (GRCm39) Y87C probably damaging Het
Dnah6 C T 6: 73,069,155 (GRCm39) E2511K probably damaging Het
Entpd5 C A 12: 84,443,717 (GRCm39) E9* probably null Het
Fbln2 A C 6: 91,248,532 (GRCm39) I1066L probably benign Het
Fhl2 C T 1: 43,192,381 (GRCm39) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm39) I17K probably damaging Het
Galnt2l A G 8: 122,996,472 (GRCm39) probably benign Het
Gbp7 T A 3: 142,252,299 (GRCm39) N627K probably benign Het
Gnptab A G 10: 88,265,381 (GRCm39) Y331C probably damaging Het
Hdac4 T C 1: 91,903,366 (GRCm39) E521G possibly damaging Het
Hibadh T A 6: 52,534,862 (GRCm39) M173L probably benign Het
Iba57 C T 11: 59,054,439 (GRCm39) A27T probably benign Het
Itga1 T C 13: 115,152,790 (GRCm39) I211V probably benign Het
Keg1 A T 19: 12,696,280 (GRCm39) I155F possibly damaging Het
Krt84 T C 15: 101,438,671 (GRCm39) E272G probably damaging Het
Lrp2 C A 2: 69,307,384 (GRCm39) V2892L probably benign Het
Ltb A G 17: 35,414,016 (GRCm39) probably benign Het
Masp1 G A 16: 23,276,768 (GRCm39) P579L probably damaging Het
Mtor T A 4: 148,618,359 (GRCm39) M1724K probably benign Het
Myo3a T G 2: 22,436,360 (GRCm39) probably benign Het
Myo9b C T 8: 71,776,493 (GRCm39) probably benign Het
Ncor1 G T 11: 62,233,871 (GRCm39) Q444K possibly damaging Het
Nek7 A T 1: 138,471,980 (GRCm39) C53* probably null Het
Obscn G T 11: 58,953,522 (GRCm39) Y4044* probably null Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh15 A T 10: 74,046,257 (GRCm39) D178V probably damaging Het
Pcsk6 T C 7: 65,578,845 (GRCm39) probably benign Het
Phxr4 T C 9: 13,343,087 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,593,583 (GRCm39) D1510V probably benign Het
Pkhd1l1 T C 15: 44,460,537 (GRCm39) C4249R probably benign Het
Plxnb2 A G 15: 89,045,972 (GRCm39) Y968H possibly damaging Het
Prpf39 T C 12: 65,102,057 (GRCm39) V378A possibly damaging Het
Psd2 A G 18: 36,137,770 (GRCm39) N455S probably damaging Het
Ptch2 C A 4: 116,966,622 (GRCm39) probably benign Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rad9b A T 5: 122,469,590 (GRCm39) V348E probably damaging Het
Rcor1 T C 12: 111,076,212 (GRCm39) probably benign Het
Rhoc A T 3: 104,699,307 (GRCm39) E32V possibly damaging Het
Rnf40 T G 7: 127,199,743 (GRCm39) V925G probably damaging Het
Rptor G T 11: 119,775,793 (GRCm39) R988L probably benign Het
Slc25a32 A T 15: 38,963,292 (GRCm39) Y176* probably null Het
Slc7a1 T A 5: 148,289,236 (GRCm39) K4* probably null Het
Ss18 A C 18: 14,812,478 (GRCm39) Y38D probably damaging Het
Syt4 T A 18: 31,580,273 (GRCm39) probably benign Het
Taar4 A T 10: 23,837,304 (GRCm39) N305Y probably damaging Het
Taar7b A T 10: 23,876,192 (GRCm39) Y119F probably benign Het
Tcaf1 G T 6: 42,663,324 (GRCm39) D185E probably benign Het
Tmem138 T C 19: 10,552,316 (GRCm39) N62S possibly damaging Het
Tnfaip2 C T 12: 111,412,244 (GRCm39) T215M probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnfrsf25 C T 4: 152,201,405 (GRCm39) P65S possibly damaging Het
Trp53bp1 A T 2: 121,067,240 (GRCm39) S495R possibly damaging Het
Trpv3 T C 11: 73,184,805 (GRCm39) F597S probably damaging Het
Tsc22d4 A C 5: 137,745,378 (GRCm39) M1L possibly damaging Het
Ttc39a A G 4: 109,278,650 (GRCm39) probably null Het
Ttn T G 2: 76,591,570 (GRCm39) H21033P probably damaging Het
Ugt2a3 A G 5: 87,484,577 (GRCm39) V149A possibly damaging Het
Ush2a T G 1: 188,051,267 (GRCm39) I251R possibly damaging Het
Vamp4 T C 1: 162,417,108 (GRCm39) C114R possibly damaging Het
Wdr33 T C 18: 31,966,388 (GRCm39) V135A probably damaging Het
Zc3h13 T A 14: 75,567,908 (GRCm39) V1067E probably damaging Het
Zcwpw1 G A 5: 137,808,375 (GRCm39) W274* probably null Het
Zfp219 T A 14: 52,244,163 (GRCm39) H627L probably 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
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
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'- TCTCCTCCACAGCATCAAGGATCTC -3'
(R):5'- TCAAAGCTTGGCCTTGCCTCTG -3'

Sequencing Primer
(F):5'- AGCAACGCAGCTTACCATGA -3'
(R):5'- aagactacagaaaaagaccaaaaaac -3'
Posted On 2013-05-09