Incidental Mutation 'R9205:Dgkz'
ID 698422
Institutional Source Beutler Lab
Gene Symbol Dgkz
Ensembl Gene ENSMUSG00000040479
Gene Name diacylglycerol kinase zeta
Synonyms mDGK[z], E130307B02Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9205 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 91763169-91806209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91764144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1067 (T1067S)
Ref Sequence ENSEMBL: ENSMUSP00000106934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000028672] [ENSMUST00000069423] [ENSMUST00000090602] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000111309] [ENSMUST00000128152] [ENSMUST00000142231]
AlphaFold Q80UP3
Predicted Effect probably benign
Transcript: ENSMUST00000028667
AA Change: T873S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: T873S

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: T890S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: T890S

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: T1067S

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: T1067S

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: 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
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: ENSMUST00000142231
SMART Domains Protein: ENSMUSP00000114740
Gene: ENSMUSG00000040479

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.3%
Validation Efficiency 95% (76/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 T A 6: 140,587,954 (GRCm39) H341Q probably damaging Het
Apob G A 12: 8,030,635 (GRCm39) A125T probably damaging Het
Bace2 G T 16: 97,158,059 (GRCm39) A20S unknown Het
Bcar1 T C 8: 112,442,341 (GRCm39) Y238C probably damaging Het
Brinp3 A T 1: 146,777,827 (GRCm39) D758V possibly damaging Het
Btnl10 T C 11: 58,811,345 (GRCm39) S223P probably damaging Het
Cckar C T 5: 53,864,587 (GRCm39) probably null Het
Cdhr2 A G 13: 54,861,801 (GRCm39) N66S probably benign Het
Chd9 A G 8: 91,757,270 (GRCm39) M1890V probably benign Het
Col6a5 C T 9: 105,755,837 (GRCm39) G2196R probably damaging Het
Col9a1 T G 1: 24,224,175 (GRCm39) M119R unknown Het
Cryaa A G 17: 31,898,642 (GRCm39) H123R probably damaging Het
Cux1 A T 5: 136,398,989 (GRCm39) D171E probably damaging Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnah5 T C 15: 28,448,480 (GRCm39) M4181T possibly damaging Het
Dnajb14 A G 3: 137,614,145 (GRCm39) E352G possibly damaging Het
Dnmt3l T A 10: 77,892,586 (GRCm39) probably null Het
Dph6 T C 2: 114,399,995 (GRCm39) I117V probably damaging Het
Dsg1a A G 18: 20,473,228 (GRCm39) D767G probably damaging Het
Edn3 C T 2: 174,603,482 (GRCm39) P77S possibly damaging Het
Fbln7 A C 2: 128,737,168 (GRCm39) S328R probably null Het
Fbn2 T C 18: 58,192,428 (GRCm39) R1518G probably damaging Het
Foxi2 A T 7: 135,013,525 (GRCm39) T252S probably benign Het
Foxred2 A G 15: 77,836,206 (GRCm39) S384P probably damaging Het
Gdpd1 G A 11: 86,936,009 (GRCm39) H174Y probably benign Het
Gm10542 A C 18: 44,337,705 (GRCm39) D61A possibly damaging Het
Gm10563 TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC 4: 155,720,307 (GRCm39) probably benign Het
H2-Ab1 A G 17: 34,483,981 (GRCm39) E114G probably damaging Het
Htt C T 5: 34,976,367 (GRCm39) T723M probably benign Het
Igfn1 C T 1: 135,903,695 (GRCm39) V348I probably damaging Het
Itpr1 T A 6: 108,466,810 (GRCm39) L2173Q probably damaging Het
Lamp5 A G 2: 135,901,521 (GRCm39) Y115C probably damaging Het
Lrp1 T A 10: 127,430,850 (GRCm39) K400* probably null Het
Man2a2 C T 7: 80,010,868 (GRCm39) V708I probably benign Het
Matr3 T C 18: 35,720,774 (GRCm39) S746P probably benign Het
Me1 C T 9: 86,480,847 (GRCm39) V353M probably benign Het
Mideas A C 12: 84,199,661 (GRCm39) F1020V probably benign Het
Nbeal1 T A 1: 60,317,839 (GRCm39) D1925E probably damaging Het
Oca2 T A 7: 55,966,168 (GRCm39) F387I probably damaging Het
Opn3 G T 1: 175,490,655 (GRCm39) N335K probably benign Het
Or5d36 T A 2: 87,900,778 (GRCm39) H316L probably benign Het
Or5k17 T G 16: 58,746,485 (GRCm39) I150L probably benign Het
Or5k17 G T 16: 58,746,486 (GRCm39) F149L probably benign Het
Or6d12 T A 6: 116,493,315 (GRCm39) N192K probably benign Het
Or6k2 T C 1: 173,986,456 (GRCm39) I39T probably benign Het
Or8b48 T A 9: 38,493,373 (GRCm39) S267T probably benign Het
Osm A G 11: 4,188,504 (GRCm39) N44D possibly damaging Het
Otop2 T C 11: 115,219,912 (GRCm39) Y251H probably damaging Het
Pappa T C 4: 65,074,612 (GRCm39) S389P possibly damaging Het
Polr1d C T 5: 147,038,068 (GRCm39) A19V probably damaging Het
Ptchd4 G A 17: 42,814,276 (GRCm39) V726M probably benign Het
Pzp T A 6: 128,473,626 (GRCm39) D731V probably benign Het
Rgl2 A T 17: 34,155,002 (GRCm39) I669F probably damaging Het
Rpl38 T C 11: 114,563,114 (GRCm39) *71R probably null Het
Rufy1 G A 11: 50,289,301 (GRCm39) R514W probably damaging Het
Ruvbl2 G A 7: 45,083,741 (GRCm39) probably benign Het
Scn9a T G 2: 66,363,657 (GRCm39) I874L probably damaging Het
Slc14a2 A G 18: 78,238,951 (GRCm39) S85P probably benign Het
Slc17a1 A G 13: 24,062,794 (GRCm39) I287V probably benign Het
Slc35f3 T A 8: 127,115,928 (GRCm39) I285N probably damaging Het
Slx4 A G 16: 3,805,927 (GRCm39) S542P possibly damaging Het
Sox30 A T 11: 45,908,180 (GRCm39) L782F probably damaging Het
Sspo A G 6: 48,432,806 (GRCm39) N894S probably benign Het
Syne1 G A 10: 5,152,013 (GRCm39) Q5765* probably null Het
Taar7e T C 10: 23,913,972 (GRCm39) I154T probably benign Het
Tars1 A G 15: 11,397,265 (GRCm39) probably null Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmem198b A T 10: 128,639,057 (GRCm39) C29S probably damaging Het
Tnr A C 1: 159,722,617 (GRCm39) M1021L probably benign Het
Tom1l1 G A 11: 90,548,644 (GRCm39) P309L probably damaging Het
Traf4 A G 11: 78,051,927 (GRCm39) S186P probably benign Het
Trpm1 T G 7: 63,890,319 (GRCm39) V974G possibly damaging Het
Tsga10 T A 1: 37,880,359 (GRCm39) probably benign Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r93 A T 17: 18,524,281 (GRCm39) I92F probably damaging Het
Zfp457 A T 13: 67,441,965 (GRCm39) D203E probably benign Het
Zfp518b G A 5: 38,831,501 (GRCm39) S168F probably damaging Het
Zfp7 TGCGGGAAAGGTTTCCACCTGAGCG TGCG 15: 76,774,800 (GRCm39) probably benign Het
Zfp777 G A 6: 48,002,521 (GRCm39) T523M 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
R9120:Dgkz UTSW 2 91,768,545 (GRCm39) missense probably benign 0.00
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'- TTCTTCTACGGAGCCAGAGG -3'
(R):5'- AAGAACCCTTTGTGGCTAGCAC -3'

Sequencing Primer
(F):5'- GGTATCCTCAGAGGTCACAAGC -3'
(R):5'- CCTTTGTGGCTAGCACTGAGC -3'
Posted On 2022-02-07