Incidental Mutation 'R6313:Dgkg'
| ID |
510550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkg
|
| Ensembl Gene |
ENSMUSG00000022861 |
| Gene Name |
diacylglycerol kinase, gamma |
| Synonyms |
2900055E17Rik, E430001K23Rik, Dagk3 |
| MMRRC Submission |
044470-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R6313 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
22287211-22475971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 22338311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 592
(D592A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023578]
[ENSMUST00000089925]
|
| AlphaFold |
Q91WG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023578
AA Change: D592A
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023578
Gene: ENSMUSG00000022861
AA Change: D592A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAG_kinase_N
|
2 |
172 |
9.3e-66 |
PFAM |
|
EFh
|
176 |
204 |
8.13e-2 |
SMART |
|
EFh
|
221 |
249 |
1.07e-1 |
SMART |
|
C1
|
269 |
318 |
1.23e-10 |
SMART |
|
DAGKc
|
392 |
516 |
5.29e-65 |
SMART |
|
DAGKa
|
536 |
710 |
1.25e-116 |
SMART |
|
low complexity region
|
735 |
748 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089925
AA Change: D631A
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000087371
Gene: ENSMUSG00000022861
AA Change: D631A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAG_kinase_N
|
5 |
172 |
3.9e-54 |
PFAM |
|
EFh
|
176 |
204 |
8.13e-2 |
SMART |
|
EFh
|
221 |
249 |
1.07e-1 |
SMART |
|
C1
|
269 |
318 |
1.23e-10 |
SMART |
|
C1
|
334 |
380 |
3.35e-3 |
SMART |
|
DAGKc
|
431 |
555 |
5.29e-65 |
SMART |
|
DAGKa
|
575 |
749 |
1.25e-116 |
SMART |
|
low complexity region
|
774 |
787 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159309
|
| Meta Mutation Damage Score |
0.2031 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,126,344 (GRCm39) |
F1167L |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| Acaca |
C |
T |
11: 84,183,755 (GRCm39) |
T32I |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,508,670 (GRCm39) |
N348Y |
possibly damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,940,469 (GRCm39) |
D39G |
possibly damaging |
Het |
| Arid5b |
T |
C |
10: 67,933,412 (GRCm39) |
D587G |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,809,141 (GRCm39) |
V1963A |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,410,204 (GRCm39) |
L34Q |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,907,579 (GRCm39) |
Q53R |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,308,530 (GRCm39) |
S1799L |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,935,936 (GRCm39) |
E457G |
probably benign |
Het |
| Cmtm1 |
A |
T |
8: 105,031,795 (GRCm39) |
M283K |
possibly damaging |
Het |
| Dcdc5 |
T |
C |
2: 106,198,516 (GRCm39) |
|
noncoding transcript |
Het |
| Decr1 |
T |
A |
4: 15,924,261 (GRCm39) |
M220L |
probably benign |
Het |
| Dkkl1 |
T |
C |
7: 44,860,862 (GRCm39) |
Q39R |
probably benign |
Het |
| Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
| Efcab2 |
A |
T |
1: 178,308,936 (GRCm39) |
E146D |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,049,652 (GRCm39) |
V504A |
possibly damaging |
Het |
| Ermard |
T |
G |
17: 15,273,467 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
C |
15: 102,224,247 (GRCm39) |
V1266A |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,232,465 (GRCm39) |
V40G |
probably damaging |
Het |
| Gm3629 |
A |
T |
14: 17,834,409 (GRCm39) |
I194N |
possibly damaging |
Het |
| Gnai2 |
C |
T |
9: 107,497,296 (GRCm39) |
V33M |
possibly damaging |
Het |
| H2-DMb1 |
T |
C |
17: 34,376,506 (GRCm39) |
|
probably null |
Het |
| Hc |
T |
C |
2: 34,879,851 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
C |
13: 49,861,921 (GRCm39) |
S491P |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,899,799 (GRCm39) |
L500H |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,319,146 (GRCm39) |
T102S |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,373 (GRCm39) |
S1123P |
probably damaging |
Het |
| Mettl5 |
C |
A |
2: 69,702,071 (GRCm39) |
|
probably null |
Het |
| Mmp11 |
A |
G |
10: 75,759,818 (GRCm39) |
*4R |
probably null |
Het |
| Myom1 |
A |
T |
17: 71,389,483 (GRCm39) |
D911V |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,638,367 (GRCm39) |
T96A |
probably benign |
Het |
| Nlrp4e |
G |
T |
7: 23,052,597 (GRCm39) |
V839L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,370,128 (GRCm39) |
|
probably null |
Het |
| Or8k35 |
T |
C |
2: 86,424,411 (GRCm39) |
T254A |
possibly damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,005,091 (GRCm39) |
H978R |
probably benign |
Het |
| Pde8b |
A |
T |
13: 95,178,508 (GRCm39) |
C537* |
probably null |
Het |
| Polr1b |
T |
C |
2: 128,967,366 (GRCm39) |
F920L |
probably damaging |
Het |
| Polr2f |
A |
G |
15: 79,035,573 (GRCm39) |
T87A |
probably damaging |
Het |
| Pon2 |
T |
A |
6: 5,272,421 (GRCm39) |
H133L |
probably damaging |
Het |
| Pou2af2 |
C |
T |
9: 51,201,481 (GRCm39) |
D192N |
probably damaging |
Het |
| Ptk2b |
T |
A |
14: 66,416,280 (GRCm39) |
E205V |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,314,357 (GRCm39) |
M343K |
probably benign |
Het |
| Rlf |
G |
A |
4: 121,005,807 (GRCm39) |
R1058W |
probably damaging |
Het |
| S100z |
T |
A |
13: 95,615,082 (GRCm39) |
K28* |
probably null |
Het |
| Scarf1 |
T |
A |
11: 75,411,141 (GRCm39) |
N273K |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,385,434 (GRCm39) |
I136M |
unknown |
Het |
| Sfrp2 |
A |
G |
3: 83,674,291 (GRCm39) |
D148G |
probably benign |
Het |
| Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
| Slc2a9 |
T |
G |
5: 38,610,464 (GRCm39) |
I112L |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,186,312 (GRCm39) |
Y972* |
probably null |
Het |
| Sntg1 |
T |
C |
1: 8,515,248 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,129,470 (GRCm39) |
N1180S |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,639,786 (GRCm39) |
D114G |
probably damaging |
Het |
| Suclg1 |
T |
C |
6: 73,233,192 (GRCm39) |
S46P |
probably damaging |
Het |
| Synj1 |
C |
T |
16: 90,743,703 (GRCm39) |
A1186T |
probably benign |
Het |
| Tas2r124 |
A |
G |
6: 132,732,410 (GRCm39) |
T240A |
probably benign |
Het |
| Tax1bp1 |
T |
C |
6: 52,721,341 (GRCm39) |
|
probably null |
Het |
| Tchh |
C |
A |
3: 93,355,158 (GRCm39) |
Q1533K |
unknown |
Het |
| Tmprss15 |
T |
C |
16: 78,759,058 (GRCm39) |
T887A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,536,937 (GRCm39) |
I34963V |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,078,878 (GRCm39) |
G1485D |
probably damaging |
Het |
| Usp9y |
G |
T |
Y: 1,385,355 (GRCm39) |
H633N |
probably benign |
Homo |
| Vmn2r99 |
A |
T |
17: 19,602,867 (GRCm39) |
N541Y |
probably damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,810,854 (GRCm39) |
N337K |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,267 (GRCm39) |
C56S |
possibly damaging |
Het |
| Zfp457 |
C |
T |
13: 67,440,746 (GRCm39) |
E610K |
probably damaging |
Het |
|
| Other mutations in Dgkg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Dgkg
|
APN |
16 |
22,298,112 (GRCm39) |
splice site |
probably benign |
|
|
IGL01347:Dgkg
|
APN |
16 |
22,419,340 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02313:Dgkg
|
APN |
16 |
22,388,980 (GRCm39) |
splice site |
probably benign |
|
|
IGL02498:Dgkg
|
APN |
16 |
22,367,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02954:Dgkg
|
APN |
16 |
22,441,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03103:Dgkg
|
APN |
16 |
22,399,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Dgkg
|
UTSW |
16 |
22,384,114 (GRCm39) |
splice site |
probably null |
|
|
R0636:Dgkg
|
UTSW |
16 |
22,398,479 (GRCm39) |
splice site |
probably benign |
|
|
R0666:Dgkg
|
UTSW |
16 |
22,381,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Dgkg
|
UTSW |
16 |
22,419,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1495:Dgkg
|
UTSW |
16 |
22,319,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1603:Dgkg
|
UTSW |
16 |
22,388,909 (GRCm39) |
splice site |
probably benign |
|
|
R1993:Dgkg
|
UTSW |
16 |
22,419,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Dgkg
|
UTSW |
16 |
22,384,067 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2192:Dgkg
|
UTSW |
16 |
22,407,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2251:Dgkg
|
UTSW |
16 |
22,441,010 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R2252:Dgkg
|
UTSW |
16 |
22,441,010 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R3104:Dgkg
|
UTSW |
16 |
22,394,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3105:Dgkg
|
UTSW |
16 |
22,394,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Dgkg
|
UTSW |
16 |
22,394,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Dgkg
|
UTSW |
16 |
22,393,943 (GRCm39) |
intron |
probably benign |
|
|
R5272:Dgkg
|
UTSW |
16 |
22,407,044 (GRCm39) |
splice site |
probably null |
|
|
R5364:Dgkg
|
UTSW |
16 |
22,419,211 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5417:Dgkg
|
UTSW |
16 |
22,407,081 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5677:Dgkg
|
UTSW |
16 |
22,388,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5839:Dgkg
|
UTSW |
16 |
22,385,244 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5931:Dgkg
|
UTSW |
16 |
22,376,788 (GRCm39) |
nonsense |
probably null |
|
|
R7017:Dgkg
|
UTSW |
16 |
22,391,463 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7135:Dgkg
|
UTSW |
16 |
22,319,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Dgkg
|
UTSW |
16 |
22,367,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Dgkg
|
UTSW |
16 |
22,441,054 (GRCm39) |
start gained |
probably benign |
|
|
R7812:Dgkg
|
UTSW |
16 |
22,385,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7971:Dgkg
|
UTSW |
16 |
22,388,966 (GRCm39) |
nonsense |
probably null |
|
|
R8064:Dgkg
|
UTSW |
16 |
22,399,344 (GRCm39) |
frame shift |
probably null |
|
|
R8122:Dgkg
|
UTSW |
16 |
22,385,295 (GRCm39) |
splice site |
probably null |
|
|
R8825:Dgkg
|
UTSW |
16 |
22,381,519 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9049:Dgkg
|
UTSW |
16 |
22,419,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9308:Dgkg
|
UTSW |
16 |
22,429,528 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9352:Dgkg
|
UTSW |
16 |
22,398,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9433:Dgkg
|
UTSW |
16 |
22,384,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Dgkg
|
UTSW |
16 |
22,385,168 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9606:Dgkg
|
UTSW |
16 |
22,441,011 (GRCm39) |
start codon destroyed |
probably null |
0.51 |
|
R9623:Dgkg
|
UTSW |
16 |
22,385,194 (GRCm39) |
missense |
|
|
|
R9634:Dgkg
|
UTSW |
16 |
22,338,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9765:Dgkg
|
UTSW |
16 |
22,298,157 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1088:Dgkg
|
UTSW |
16 |
22,391,436 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1088:Dgkg
|
UTSW |
16 |
22,288,078 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Dgkg
|
UTSW |
16 |
22,407,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Dgkg
|
UTSW |
16 |
22,376,834 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGAAGCCATCAGAGTGACG -3'
(R):5'- CTGACAAGCACTGCACAATG -3'
Sequencing Primer
(F):5'- AGCCATCAGAGTGACGTTGTG -3'
(R):5'- CTGCACAATGTAAGAACAGGGACTTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation