Incidental Mutation 'R8956:Dgkq'
ID 682006
Institutional Source Beutler Lab
Gene Symbol Dgkq
Ensembl Gene ENSMUSG00000004815
Gene Name diacylglycerol kinase, theta
Synonyms Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd
MMRRC Submission 068792-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8956 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 108794910-108808696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108798095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 721 (N721S)
Ref Sequence ENSEMBL: ENSMUSP00000057859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053913] [ENSMUST00000063272] [ENSMUST00000078323] [ENSMUST00000120327] [ENSMUST00000132179] [ENSMUST00000132708] [ENSMUST00000153238]
AlphaFold Q6P5E8
Predicted Effect probably benign
Transcript: ENSMUST00000053913
AA Change: N721S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: N721S

DomainStartEndE-ValueType
C1 55 102 3.22e-14 SMART
C1 114 162 1.73e-2 SMART
C1 178 228 1.58e-13 SMART
low complexity region 267 275 N/A INTRINSIC
RA 387 486 2.08e-20 SMART
DAGKc 580 707 4.79e-63 SMART
DAGKa 733 885 7e-88 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063272
SMART Domains Protein: ENSMUSP00000068607
Gene: ENSMUSG00000013495

DomainStartEndE-ValueType
Pfam:DUF1211 31 121 7.3e-28 PFAM
transmembrane domain 135 157 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
Pfam:DUF1211 256 353 4.4e-36 PFAM
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078323
SMART Domains Protein: ENSMUSP00000077437
Gene: ENSMUSG00000013495

DomainStartEndE-ValueType
Pfam:DUF1211 31 121 7.3e-28 PFAM
transmembrane domain 135 157 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
Pfam:DUF1211 256 353 4.4e-36 PFAM
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120327
SMART Domains Protein: ENSMUSP00000112780
Gene: ENSMUSG00000013495

DomainStartEndE-ValueType
Pfam:DUF1211 32 121 1.5e-22 PFAM
transmembrane domain 135 157 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
Pfam:DUF1211 257 353 9.5e-27 PFAM
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132179
SMART Domains Protein: ENSMUSP00000118466
Gene: ENSMUSG00000004815

DomainStartEndE-ValueType
C1 55 102 3.22e-14 SMART
Blast:C1 114 144 1e-12 BLAST
low complexity region 156 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132708
SMART Domains Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815

DomainStartEndE-ValueType
Blast:C1 26 56 2e-13 BLAST
low complexity region 68 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153238
SMART Domains Protein: ENSMUSP00000118065
Gene: ENSMUSG00000004815

DomainStartEndE-ValueType
C1 55 102 3.22e-14 SMART
Blast:C1 114 144 1e-12 BLAST
low complexity region 156 169 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (87/89)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan C T 7: 78,750,713 (GRCm39) T1828I probably benign Het
Acsf2 A G 11: 94,461,211 (GRCm39) S322P probably benign Het
Acss2 T A 2: 155,391,438 (GRCm39) I170N probably damaging Het
Adam22 G A 5: 8,142,343 (GRCm39) T814I probably damaging Het
Agrn G T 4: 156,250,995 (GRCm39) D1914E probably damaging Het
Akap6 T C 12: 53,187,127 (GRCm39) S1514P probably benign Het
Akap9 T C 5: 3,998,805 (GRCm39) L58P possibly damaging Het
Apof A G 10: 128,105,712 (GRCm39) I289V probably benign Het
Arhgap35 G A 7: 16,348,404 (GRCm39) probably benign Het
Atad3a A C 4: 155,838,054 (GRCm39) F239L probably damaging Het
Atf6 T C 1: 170,621,576 (GRCm39) T482A probably damaging Het
Atg9b T C 5: 24,591,850 (GRCm39) probably benign Het
Atp8b4 T A 2: 126,167,327 (GRCm39) probably null Het
B4galt5 T C 2: 167,143,260 (GRCm39) Y388C probably damaging Het
Bahd1 T C 2: 118,749,689 (GRCm39) L495P probably damaging Het
Bcl6 T C 16: 23,793,716 (GRCm39) E77G probably damaging Het
Bst1 C A 5: 43,982,716 (GRCm39) S187* probably null Het
Car4 A G 11: 84,855,377 (GRCm39) N170S probably null Het
Cdk14 A T 5: 5,277,182 (GRCm39) V131E probably damaging Het
Cdk4 T A 10: 126,900,546 (GRCm39) probably benign Het
Cebpe T C 14: 54,949,121 (GRCm39) R99G probably damaging Het
Col9a1 G A 1: 24,276,300 (GRCm39) G736D probably damaging Het
Copa T A 1: 171,937,480 (GRCm39) V477D possibly damaging Het
Coq9 G A 8: 95,576,886 (GRCm39) G166D probably benign Het
Cttnbp2 A T 6: 18,434,165 (GRCm39) N564K possibly damaging Het
Dnhd1 A T 7: 105,341,852 (GRCm39) Y1217F probably damaging Het
Eef1akmt4 G T 16: 20,437,398 (GRCm39) E247* probably null Het
Elovl7 A T 13: 108,393,320 (GRCm39) I18F probably benign Het
Eml5 T C 12: 98,818,952 (GRCm39) K785E possibly damaging Het
Faap100 C A 11: 120,268,185 (GRCm39) C196F probably damaging Het
Fat2 G A 11: 55,173,729 (GRCm39) T2328M probably damaging Het
Gcnt2 T A 13: 41,041,204 (GRCm39) I121N probably benign Het
Gm12253 A G 11: 58,327,605 (GRCm39) K152E probably benign Het
Gm16440 T A 14: 17,574,527 (GRCm39) R167* probably null Het
Gm43302 T A 5: 105,425,602 (GRCm39) I276F possibly damaging Het
Gys2 A G 6: 142,374,267 (GRCm39) S593P probably damaging Het
H2-M10.4 T A 17: 36,772,245 (GRCm39) N168Y probably benign Het
Hpca C A 4: 129,012,287 (GRCm39) R83L probably damaging Het
Igkv8-28 A G 6: 70,121,109 (GRCm39) F13L probably benign Het
Il17ra A T 6: 120,458,465 (GRCm39) I539F probably damaging Het
Kdm4a A G 4: 118,019,013 (GRCm39) V401A possibly damaging Het
Krt86 A T 15: 101,375,157 (GRCm39) T351S probably benign Het
Lig4 A G 8: 10,021,378 (GRCm39) C801R probably benign Het
Lrrn4 G A 2: 132,714,011 (GRCm39) P312S probably damaging Het
Macf1 T A 4: 123,368,641 (GRCm39) H2040L probably benign Het
Madcam1 A G 10: 79,502,466 (GRCm39) K317E possibly damaging Het
Maip1 T C 1: 57,450,961 (GRCm39) I201T probably damaging Het
Map4k4 C A 1: 40,039,840 (GRCm39) D513E probably benign Het
Mideas T A 12: 84,209,102 (GRCm39) I667L probably benign Het
Mpped1 G A 15: 83,740,469 (GRCm39) G137R probably damaging Het
Mrgprd T G 7: 144,875,923 (GRCm39) F265V probably benign Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Mylk A G 16: 34,791,779 (GRCm39) T1484A probably benign Het
Nbas C T 12: 13,482,923 (GRCm39) S1400L possibly damaging Het
Nedd4 T A 9: 72,633,708 (GRCm39) S405T probably benign Het
Neil2 A G 14: 63,429,227 (GRCm39) V22A probably damaging Het
Nrip1 G C 16: 76,089,193 (GRCm39) A788G probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or10ab4 A G 7: 107,655,160 (GRCm39) T324A probably benign Het
Or10d4c C T 9: 39,558,496 (GRCm39) T158I probably damaging Het
Or2b7 T C 13: 21,740,169 (GRCm39) I8V probably benign Het
Or2bd2 G A 7: 6,442,020 (GRCm39) probably benign Het
Or2r2 T A 6: 42,463,830 (GRCm39) Q99L probably damaging Het
Or6c215 C T 10: 129,638,222 (GRCm39) M57I possibly damaging Het
Orc2 T C 1: 58,505,221 (GRCm39) N478S probably damaging Het
Oxct1 A G 15: 4,064,806 (GRCm39) E48G possibly damaging Het
Pcca A G 14: 122,975,324 (GRCm39) I28V probably benign Het
Pcdha8 T C 18: 37,126,241 (GRCm39) V241A probably benign Het
Pgap6 T A 17: 26,339,374 (GRCm39) S563T possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkd2 T A 5: 104,631,090 (GRCm39) W505R probably damaging Het
Plxnc1 C T 10: 94,746,448 (GRCm39) V430I probably benign Het
Prkd3 A G 17: 79,278,883 (GRCm39) M401T probably damaging Het
Rgmb A G 17: 16,027,748 (GRCm39) C324R probably benign Het
Rsph6a A T 7: 18,799,364 (GRCm39) probably benign Het
Sclt1 A T 3: 41,636,209 (GRCm39) M264K probably benign Het
Serhl T A 15: 82,985,899 (GRCm39) V30D possibly damaging Het
Sfrp1 T C 8: 23,902,159 (GRCm39) V120A probably damaging Het
Slc22a8 C T 19: 8,587,030 (GRCm39) Q408* probably null Het
Slc35b2 A G 17: 45,877,673 (GRCm39) T218A probably damaging Het
Slco4c1 A T 1: 96,765,242 (GRCm39) F403I probably damaging Het
Sorbs1 T A 19: 40,351,660 (GRCm39) H250L probably damaging Het
Sorcs3 T A 19: 48,737,810 (GRCm39) C742* probably null Het
Tnc T C 4: 63,918,970 (GRCm39) Y1151C probably damaging Het
Tor1aip1 T A 1: 155,909,582 (GRCm39) probably benign Het
Trim9 T C 12: 70,393,665 (GRCm39) Q93R probably damaging Het
Tsnaxip1 A G 8: 106,570,813 (GRCm39) Y613C probably damaging Het
Ttc6 C T 12: 57,775,196 (GRCm39) Q1631* probably null Het
Ubr5 A G 15: 38,015,367 (GRCm39) L881P probably damaging Het
Upp2 C T 2: 58,457,454 (GRCm39) probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn2r116 A T 17: 23,605,736 (GRCm39) D216V probably damaging Het
Vps52 A G 17: 34,177,049 (GRCm39) Q96R probably benign Het
Other mutations in Dgkq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Dgkq APN 5 108,802,448 (GRCm39) missense possibly damaging 0.72
IGL02364:Dgkq APN 5 108,804,310 (GRCm39) missense probably benign 0.05
IGL02966:Dgkq APN 5 108,804,287 (GRCm39) splice site probably null
IGL03297:Dgkq APN 5 108,798,140 (GRCm39) missense probably damaging 1.00
R0179:Dgkq UTSW 5 108,806,066 (GRCm39) splice site probably benign
R0194:Dgkq UTSW 5 108,802,510 (GRCm39) intron probably benign
R0332:Dgkq UTSW 5 108,802,965 (GRCm39) splice site probably benign
R0513:Dgkq UTSW 5 108,804,361 (GRCm39) missense probably benign 0.02
R0525:Dgkq UTSW 5 108,802,481 (GRCm39) missense probably damaging 1.00
R0673:Dgkq UTSW 5 108,803,455 (GRCm39) missense probably damaging 0.97
R0801:Dgkq UTSW 5 108,808,586 (GRCm39) splice site probably null
R0850:Dgkq UTSW 5 108,802,444 (GRCm39) missense possibly damaging 0.82
R0944:Dgkq UTSW 5 108,804,331 (GRCm39) missense probably damaging 1.00
R1069:Dgkq UTSW 5 108,803,903 (GRCm39) splice site probably benign
R1411:Dgkq UTSW 5 108,798,228 (GRCm39) missense probably damaging 1.00
R1488:Dgkq UTSW 5 108,798,743 (GRCm39) missense probably damaging 1.00
R1858:Dgkq UTSW 5 108,801,597 (GRCm39) missense probably benign 0.00
R1874:Dgkq UTSW 5 108,808,461 (GRCm39) missense probably benign 0.07
R2210:Dgkq UTSW 5 108,808,389 (GRCm39) missense probably damaging 1.00
R4499:Dgkq UTSW 5 108,797,527 (GRCm39) missense possibly damaging 0.54
R5061:Dgkq UTSW 5 108,801,989 (GRCm39) missense probably benign 0.02
R5474:Dgkq UTSW 5 108,797,009 (GRCm39) critical splice donor site probably null
R5481:Dgkq UTSW 5 108,796,676 (GRCm39) splice site probably null
R5951:Dgkq UTSW 5 108,802,236 (GRCm39) missense probably damaging 1.00
R6193:Dgkq UTSW 5 108,803,366 (GRCm39) nonsense probably null
R6429:Dgkq UTSW 5 108,801,574 (GRCm39) missense probably damaging 1.00
R6458:Dgkq UTSW 5 108,802,242 (GRCm39) missense possibly damaging 0.93
R7388:Dgkq UTSW 5 108,806,112 (GRCm39) missense probably damaging 0.99
R7398:Dgkq UTSW 5 108,803,056 (GRCm39) missense possibly damaging 0.90
R8098:Dgkq UTSW 5 108,800,334 (GRCm39) missense probably damaging 1.00
R8244:Dgkq UTSW 5 108,796,578 (GRCm39) makesense probably null
R9043:Dgkq UTSW 5 108,801,061 (GRCm39) missense probably damaging 1.00
R9360:Dgkq UTSW 5 108,798,469 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTGCTTAAATGCCACAGC -3'
(R):5'- ACAGGTGGGCTTAGTCATCG -3'

Sequencing Primer
(F):5'- CAGCATGCCCACAGAAGG -3'
(R):5'- GCTTAGTCATCGACTTGAAGGATG -3'
Posted On 2021-08-31