Incidental Mutation 'R9120:Dgkz'
ID 692710
Institutional Source Beutler Lab
Gene Symbol Dgkz
Ensembl Gene ENSMUSG00000040479
Gene Name diacylglycerol kinase zeta
Synonyms mDGK[z], E130307B02Rik
MMRRC Submission 068923-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9120 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 91763169-91806209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 91768545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 714 (D714E)
Ref Sequence ENSEMBL: ENSMUSP00000106934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000128152] [ENSMUST00000142090] [ENSMUST00000142231]
AlphaFold Q80UP3
Predicted Effect probably benign
Transcript: ENSMUST00000028667
AA Change: D520E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: D520E

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: ENSMUST00000099709
AA Change: D537E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: D537E

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: D714E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: D714E

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: 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: ENSMUST00000142090
Predicted Effect probably benign
Transcript: ENSMUST00000142231
SMART Domains Protein: ENSMUSP00000114740
Gene: ENSMUSG00000040479

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (54/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,209,141 (GRCm39) probably benign Het
Adgrb2 A G 4: 129,906,302 (GRCm39) N910S possibly damaging Het
Arhgap24 A T 5: 103,040,016 (GRCm39) I411F probably benign Het
BC030500 T A 8: 59,365,911 (GRCm39) L15Q unknown Het
BC051665 A G 13: 60,932,916 (GRCm39) V15A probably benign Het
Bicc1 T C 10: 70,776,862 (GRCm39) D732G probably damaging Het
Bpifb1 A G 2: 154,046,692 (GRCm39) I71V probably benign Het
Btnl1 A T 17: 34,598,681 (GRCm39) Q99L possibly damaging Het
Castor1 T A 11: 4,170,767 (GRCm39) V196D possibly damaging Het
Col9a2 G T 4: 120,900,951 (GRCm39) probably benign Het
D7Ertd443e T A 7: 133,871,986 (GRCm39) D625V probably damaging Het
Dchs2 A T 3: 83,187,535 (GRCm39) D1327V probably damaging Het
Ddx1 A G 12: 13,275,458 (GRCm39) V543A possibly damaging Het
Dlk1 A G 12: 109,424,051 (GRCm39) D105G probably benign Het
Fndc3a A G 14: 72,802,133 (GRCm39) F557L probably benign Het
Gm28042 C T 2: 119,869,462 (GRCm39) L609F probably damaging Het
Gsap A G 5: 21,458,434 (GRCm39) I473V probably damaging Het
Jag1 A T 2: 136,930,354 (GRCm39) M730K probably benign Het
Kazald1 A T 19: 45,065,211 (GRCm39) T31S probably benign Het
Ldhb A G 6: 142,439,935 (GRCm39) W202R probably damaging Het
Lrrcc1 C T 3: 14,615,489 (GRCm39) Q528* probably null Het
Magi2 A T 5: 20,733,305 (GRCm39) K525I possibly damaging Het
Map2 A G 1: 66,453,218 (GRCm39) I703V probably damaging Het
Mdn1 A T 4: 32,701,814 (GRCm39) M1516L probably damaging Het
Mpzl2 T A 9: 44,958,583 (GRCm39) S186R probably benign Het
Mtif2 T C 11: 29,483,951 (GRCm39) M208T probably benign Het
Myo3a T C 2: 22,436,464 (GRCm39) V873A probably benign Het
Or10ac1 A C 6: 42,515,583 (GRCm39) Y124* probably null Het
Or1j4 T A 2: 36,740,143 (GRCm39) Y28* probably null Het
Or5d38 A G 2: 87,955,123 (GRCm39) S69P probably damaging Het
Or5p6 T C 7: 107,630,887 (GRCm39) Y221C probably damaging Het
Or8g51 A G 9: 38,608,735 (GRCm39) F309S probably benign Het
Pgap4 A G 4: 49,587,093 (GRCm39) V25A probably benign Het
Plod2 G T 9: 92,424,380 (GRCm39) probably benign Het
Rgs14 A C 13: 55,528,792 (GRCm39) D311A probably damaging Het
Rin1 C A 19: 5,103,048 (GRCm39) P446T probably damaging Het
Ripor3 T C 2: 167,822,835 (GRCm39) K909E possibly damaging Het
Rnf139 T C 15: 58,771,685 (GRCm39) L570P probably damaging Het
Snx17 A G 5: 31,355,026 (GRCm39) E347G probably damaging Het
Spaca1 A G 4: 34,029,168 (GRCm39) S220P probably damaging Het
Spen G T 4: 141,200,233 (GRCm39) T2798K Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trim63 G A 4: 134,055,003 (GRCm39) probably benign Het
Trmt2a C A 16: 18,067,722 (GRCm39) R132S probably damaging Het
Ttn T C 2: 76,768,716 (GRCm39) E2952G unknown Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn1r211 A T 13: 23,035,936 (GRCm39) F244I probably damaging Het
Vmn2r86 T G 10: 130,289,677 (GRCm39) S73R probably benign Het
Wdr27 A G 17: 15,152,846 (GRCm39) L87P probably damaging Het
Zfp148 A G 16: 33,317,596 (GRCm39) N756S probably benign Het
Zfp57 G A 17: 37,320,650 (GRCm39) R168H probably benign 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
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
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'- CCTCCAGGTAGCCATCATCATG -3'
(R):5'- AGACGGCCTTCTCTGACTTC -3'

Sequencing Primer
(F):5'- AGGTAGCCATCATCATGCCTCTG -3'
(R):5'- CTCTGACTTCCTGATGGGCAG -3'
Posted On 2021-12-30