Incidental Mutation 'PIT4151001:Dgki'
ID 557020
Institutional Source Beutler Lab
Gene Symbol Dgki
Ensembl Gene ENSMUSG00000038665
Gene Name diacylglycerol kinase, iota
Synonyms C130010K08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4151001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 36822957-37277119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37040916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 298 (H298Q)
Ref Sequence ENSEMBL: ENSMUSP00000099071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042075] [ENSMUST00000090314] [ENSMUST00000101532] [ENSMUST00000138286] [ENSMUST00000150300]
AlphaFold D3YWQ0
Predicted Effect probably benign
Transcript: ENSMUST00000042075
AA Change: H147Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047858
Gene: ENSMUSG00000038665
AA Change: H147Q

DomainStartEndE-ValueType
C1 22 76 3.67e-1 SMART
C1 95 153 5.92e-4 SMART
DAGKc 220 344 6.73e-58 SMART
DAGKa 370 527 2.29e-92 SMART
ANK 792 822 5.53e-3 SMART
ANK 828 857 2.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090314
AA Change: H298Q

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000087788
Gene: ENSMUSG00000038665
AA Change: H298Q

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 3.67e-1 SMART
C1 246 304 5.92e-4 SMART
DAGKc 371 495 6.73e-58 SMART
DAGKa 521 678 2.29e-92 SMART
ANK 943 973 5.53e-3 SMART
ANK 979 1008 2.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101532
AA Change: H298Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000099071
Gene: ENSMUSG00000038665
AA Change: H298Q

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 3.67e-1 SMART
C1 246 304 5.92e-4 SMART
DAGKc 371 495 6.73e-58 SMART
DAGKa 521 678 2.29e-92 SMART
ANK 964 994 5.53e-3 SMART
ANK 1000 1029 2.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138286
AA Change: H298Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138628
Gene: ENSMUSG00000038665
AA Change: H298Q

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 1.8e-3 SMART
C1 246 304 2.9e-6 SMART
DAGKc 371 495 3.2e-60 SMART
DAGKa 521 678 1.1e-94 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150300
AA Change: H298Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000138457
Gene: ENSMUSG00000038665
AA Change: H298Q

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 3.67e-1 SMART
C1 246 304 5.92e-4 SMART
DAGKc 371 495 6.73e-58 SMART
DAGKa 521 591 1.43e-6 SMART
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.4%
  • 10x: 84.6%
  • 20x: 72.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are grossly normal and do not develop tumors when wounded or when exposed to phorbol ester. [provided by MGI curators]
Allele List at MGI

All alleles(8) : Targeted, knock-out(1) Gene trapped(7)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,930,670 (GRCm39) L1389P probably damaging Het
Acot10 C T 15: 20,666,684 (GRCm39) G19D probably damaging Het
Adam20 G A 8: 41,248,081 (GRCm39) V64I possibly damaging Het
Ak6 T A 13: 100,791,603 (GRCm39) D15E probably damaging Het
Atp1a2 A G 1: 172,118,288 (GRCm39) Y129H probably damaging Het
Caskin1 C T 17: 24,721,193 (GRCm39) T511I probably damaging Het
Casp9 C T 4: 141,521,259 (GRCm39) R32* probably null Het
Ccdc40 A G 11: 119,133,277 (GRCm39) E445G probably damaging Het
Cct8 T C 16: 87,284,545 (GRCm39) E273G probably damaging Het
Chd5 G A 4: 152,462,986 (GRCm39) V1380I probably damaging Het
Coro2b C T 9: 62,336,286 (GRCm39) G272D probably damaging Het
Cyp4a10 C A 4: 115,382,072 (GRCm39) H251Q probably damaging Het
Dnmt3b T G 2: 153,526,399 (GRCm39) probably null Het
Dzip1 A G 14: 119,160,200 (GRCm39) F3L probably damaging Het
Egf A G 3: 129,496,198 (GRCm39) S807P probably benign Het
Emc10 C T 7: 44,142,627 (GRCm39) R105H Het
Enthd1 T C 15: 80,336,937 (GRCm39) E499G probably damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Fer1l5 T A 1: 36,450,728 (GRCm39) M1242K probably benign Het
Gm3415 A G 5: 146,493,079 (GRCm39) R36G probably benign Het
Gm5797 C A 14: 7,330,318 (GRCm38) M114I possibly damaging Het
Gmppa A T 1: 75,418,468 (GRCm39) R284* probably null Het
Homer1 G C 13: 93,485,724 (GRCm39) K118N probably damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kcnc4 G A 3: 107,366,019 (GRCm39) A63V probably damaging Het
Kif11 T A 19: 37,373,045 (GRCm39) I88N probably damaging Het
Krba1 T C 6: 48,379,831 (GRCm39) F9S probably damaging Het
Nckap1 A G 2: 80,350,714 (GRCm39) probably null Het
Nox4 A T 7: 86,954,097 (GRCm39) Y134F probably benign Het
Or4a79 T A 2: 89,552,237 (GRCm39) T73S probably benign Het
Or51f23c-ps1 T C 7: 102,431,465 (GRCm39) S261P probably benign Het
Or52e15 A G 7: 104,645,424 (GRCm39) L229P probably damaging Het
Or5m13b T A 2: 85,754,386 (GRCm39) M258K probably damaging Het
Or5m8 T C 2: 85,822,538 (GRCm39) C126R probably damaging Het
Or8k22 G T 2: 86,163,173 (GRCm39) H176N possibly damaging Het
Pcdh17 G T 14: 84,684,798 (GRCm39) V422L probably benign Het
Pcx T A 19: 4,653,157 (GRCm39) V275E probably damaging Het
Pde6h A T 6: 136,938,185 (GRCm39) M53L possibly damaging Het
Phactr3 A T 2: 177,975,861 (GRCm39) E535D probably damaging Het
Pkn3 C A 2: 29,980,539 (GRCm39) T810N probably damaging Het
Pnpla5 T C 15: 84,002,827 (GRCm39) E252G probably damaging Het
Pramel21 T A 4: 143,342,722 (GRCm39) C276* probably null Het
Psg17 A G 7: 18,548,530 (GRCm39) S414P probably benign Het
Pzp T A 6: 128,502,259 (GRCm39) Q30L probably benign Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Ret T C 6: 118,141,702 (GRCm39) D975G probably benign Het
Sarnp A G 10: 128,713,235 (GRCm39) I209V probably benign Het
Sorl1 A T 9: 41,879,918 (GRCm39) V2210D probably damaging Het
Stard9 C T 2: 120,533,237 (GRCm39) Q3165* probably null Het
Tmem64 A T 4: 15,283,159 (GRCm39) I319F probably damaging Het
Vmn1r176 A T 7: 23,534,808 (GRCm39) V115D probably damaging Het
Vmn1r2 A G 4: 3,172,623 (GRCm39) T181A probably benign Het
Vmn2r2 T C 3: 64,024,334 (GRCm39) E749G possibly damaging Het
Vps35 G A 8: 86,010,677 (GRCm39) T222I possibly damaging Het
Zfp532 A G 18: 65,757,485 (GRCm39) T473A probably damaging Het
Zfyve16 A G 13: 92,657,712 (GRCm39) V733A probably damaging Het
Zranb1 T A 7: 132,551,723 (GRCm39) S125T probably benign Het
Other mutations in Dgki
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Dgki APN 6 36,839,391 (GRCm39) missense probably benign 0.00
IGL00951:Dgki APN 6 36,977,094 (GRCm39) missense probably damaging 0.97
IGL01087:Dgki APN 6 36,989,846 (GRCm39) missense probably damaging 1.00
IGL01396:Dgki APN 6 36,977,025 (GRCm39) missense probably damaging 1.00
IGL02113:Dgki APN 6 36,890,560 (GRCm39) splice site probably benign
IGL02174:Dgki APN 6 37,009,856 (GRCm39) missense probably damaging 1.00
IGL02215:Dgki APN 6 36,993,610 (GRCm39) missense probably damaging 1.00
IGL02353:Dgki APN 6 36,824,324 (GRCm39) missense probably damaging 1.00
IGL02360:Dgki APN 6 36,824,324 (GRCm39) missense probably damaging 1.00
IGL02662:Dgki APN 6 36,839,421 (GRCm39) splice site probably benign
IGL02891:Dgki APN 6 36,890,676 (GRCm39) missense probably benign 0.15
IGL03040:Dgki APN 6 37,126,599 (GRCm39) splice site probably benign
IGL03064:Dgki APN 6 37,126,599 (GRCm39) splice site probably benign
IGL03283:Dgki APN 6 36,914,246 (GRCm39) splice site probably benign
IGL03349:Dgki APN 6 37,074,562 (GRCm39) critical splice acceptor site probably null
H8477:Dgki UTSW 6 37,006,786 (GRCm39) splice site probably benign
R0392:Dgki UTSW 6 36,977,113 (GRCm39) missense probably damaging 1.00
R0630:Dgki UTSW 6 36,977,133 (GRCm39) missense probably damaging 1.00
R0718:Dgki UTSW 6 36,989,831 (GRCm39) missense probably damaging 1.00
R1420:Dgki UTSW 6 37,027,204 (GRCm39) splice site probably null
R1546:Dgki UTSW 6 37,027,138 (GRCm39) missense probably damaging 1.00
R1634:Dgki UTSW 6 36,892,425 (GRCm39) missense probably benign
R1639:Dgki UTSW 6 36,914,299 (GRCm39) missense probably damaging 1.00
R1738:Dgki UTSW 6 37,034,367 (GRCm39) missense possibly damaging 0.93
R1750:Dgki UTSW 6 36,893,369 (GRCm39) missense probably damaging 0.96
R1808:Dgki UTSW 6 37,126,509 (GRCm39) missense possibly damaging 0.84
R1834:Dgki UTSW 6 37,011,636 (GRCm39) splice site probably benign
R2001:Dgki UTSW 6 36,842,736 (GRCm39) missense possibly damaging 0.94
R2047:Dgki UTSW 6 36,890,581 (GRCm39) missense possibly damaging 0.69
R2413:Dgki UTSW 6 36,824,408 (GRCm39) missense possibly damaging 0.49
R3034:Dgki UTSW 6 37,064,605 (GRCm39) missense probably damaging 1.00
R4493:Dgki UTSW 6 36,951,796 (GRCm39) intron probably benign
R4684:Dgki UTSW 6 37,276,781 (GRCm39) unclassified probably benign
R4727:Dgki UTSW 6 37,276,748 (GRCm39) unclassified probably benign
R5104:Dgki UTSW 6 37,126,509 (GRCm39) missense possibly damaging 0.84
R5756:Dgki UTSW 6 36,913,993 (GRCm39) intron probably benign
R6946:Dgki UTSW 6 37,276,571 (GRCm39) nonsense probably null
R8357:Dgki UTSW 6 36,827,891 (GRCm39) missense possibly damaging 0.94
R8363:Dgki UTSW 6 36,993,613 (GRCm39) missense probably damaging 1.00
R8424:Dgki UTSW 6 36,827,850 (GRCm39) missense probably benign 0.27
R8457:Dgki UTSW 6 36,827,891 (GRCm39) missense possibly damaging 0.94
R8791:Dgki UTSW 6 36,996,875 (GRCm39) missense probably damaging 1.00
R8880:Dgki UTSW 6 37,011,652 (GRCm39) intron probably benign
R8883:Dgki UTSW 6 36,993,608 (GRCm39) missense probably damaging 1.00
R9000:Dgki UTSW 6 37,074,643 (GRCm39) intron probably benign
R9221:Dgki UTSW 6 37,273,615 (GRCm39) missense probably benign 0.01
R9290:Dgki UTSW 6 37,276,780 (GRCm39) missense unknown
R9320:Dgki UTSW 6 36,892,422 (GRCm39) missense probably damaging 1.00
R9641:Dgki UTSW 6 37,126,489 (GRCm39) missense probably damaging 0.98
R9674:Dgki UTSW 6 37,027,157 (GRCm39) missense probably damaging 0.97
R9726:Dgki UTSW 6 37,276,858 (GRCm39) missense unknown
X0066:Dgki UTSW 6 37,040,932 (GRCm39) missense probably damaging 1.00
Z1177:Dgki UTSW 6 36,952,160 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATAGGACGCCAAAGACTACTG -3'
(R):5'- TCCTGGGCTGGTTAAATGC -3'

Sequencing Primer
(F):5'- TACTGAGGGAGAAGAGCAAATCTATC -3'
(R):5'- AAATGCTGATGAGATGTATGTGTTC -3'
Posted On 2019-06-07