Incidental Mutation 'R8813:Dgkd'
| ID |
672534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkd
|
| Ensembl Gene |
ENSMUSG00000070738 |
| Gene Name |
diacylglycerol kinase, delta |
| Synonyms |
dgkd-2, DGKdelta |
| MMRRC Submission |
068648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.886)
|
| Stock # |
R8813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87781009-87872902 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87843266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 169
(C169Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027517]
|
| AlphaFold |
E9PUQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027517
AA Change: C169Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: C169Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
36 |
N/A |
INTRINSIC |
|
PH
|
54 |
148 |
1.7e-16 |
SMART |
|
C1
|
164 |
213 |
2.48e-15 |
SMART |
|
low complexity region
|
221 |
232 |
N/A |
INTRINSIC |
|
C1
|
236 |
286 |
8.56e-10 |
SMART |
|
DAGKc
|
321 |
446 |
9.44e-62 |
SMART |
|
low complexity region
|
691 |
710 |
N/A |
INTRINSIC |
|
DAGKa
|
765 |
922 |
1.25e-98 |
SMART |
|
low complexity region
|
1128 |
1139 |
N/A |
INTRINSIC |
|
SAM
|
1148 |
1214 |
2.16e-22 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are born with open eyelids and reduced body size, develop respiratory distress and die within 24 hrs of birth. Half of mice homozygous for a hypomorphic gene trap allele exhibit abnormal epileptic discharges and seizureswhile 9% of aging homozygotes develop tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
T |
C |
2: 122,482,622 (GRCm39) |
L62P |
probably damaging |
Het |
| Amotl2 |
T |
G |
9: 102,607,291 (GRCm39) |
S700A |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,549,942 (GRCm39) |
S1259P |
possibly damaging |
Het |
| Cenpj |
C |
T |
14: 56,790,355 (GRCm39) |
E565K |
probably damaging |
Het |
| Clmp |
C |
T |
9: 40,692,549 (GRCm39) |
R273* |
probably null |
Het |
| Cops7b |
A |
T |
1: 86,528,846 (GRCm39) |
Q191L |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,002,054 (GRCm39) |
F312L |
probably benign |
Het |
| Dlec1 |
A |
T |
9: 118,956,498 (GRCm39) |
N724I |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,090,406 (GRCm39) |
V2831A |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,229,719 (GRCm39) |
G118W |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,104,937 (GRCm39) |
T1884K |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,947,697 (GRCm39) |
E193G |
possibly damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,731 (GRCm39) |
S290C |
probably damaging |
Het |
| Eif1ad6 |
A |
G |
12: 87,668,593 (GRCm39) |
D75G |
probably damaging |
Het |
| Eif2ak4 |
C |
A |
2: 118,278,806 (GRCm39) |
T990K |
probably damaging |
Het |
| Erich3 |
A |
G |
3: 154,468,827 (GRCm39) |
D1093G |
unknown |
Het |
| H2-DMa |
T |
C |
17: 34,354,734 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,295,216 (GRCm39) |
D36N |
probably benign |
Het |
| Kcnk13 |
G |
T |
12: 100,027,647 (GRCm39) |
G241W |
probably damaging |
Het |
| Kdm6b |
GGGTGGTGGTGGTGGTGG |
GGGTGGTGGTGGTGGTGGTGG |
11: 69,297,655 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
TGG |
TGGGGG |
11: 69,297,658 (GRCm39) |
|
probably benign |
Het |
| Klk1b5 |
G |
T |
7: 43,496,549 (GRCm39) |
M160I |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,358,073 (GRCm39) |
Y98C |
probably damaging |
Het |
| Marcksl1 |
C |
T |
4: 129,408,999 (GRCm39) |
P193S |
probably benign |
Het |
| Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
| Nxf7 |
G |
A |
X: 134,484,515 (GRCm39) |
R513C |
possibly damaging |
Het |
| Or13a19 |
C |
A |
7: 139,902,793 (GRCm39) |
Y60* |
probably null |
Het |
| Or4a73 |
A |
T |
2: 89,420,730 (GRCm39) |
M243K |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,518 (GRCm39) |
Y281* |
probably null |
Het |
| Or7g32 |
T |
G |
9: 19,389,477 (GRCm39) |
D23A |
possibly damaging |
Het |
| Or7g34 |
A |
T |
9: 19,477,895 (GRCm39) |
Y262N |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,540,242 (GRCm39) |
M965L |
probably benign |
Het |
| Parp12 |
A |
G |
6: 39,073,508 (GRCm39) |
F439S |
probably damaging |
Het |
| Pde1a |
G |
A |
2: 79,959,261 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,913 (GRCm39) |
N370I |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,532,812 (GRCm39) |
N1268D |
unknown |
Het |
| Pter |
T |
C |
2: 12,985,114 (GRCm39) |
V148A |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,500,027 (GRCm39) |
M540T |
probably damaging |
Het |
| Rnasel |
T |
A |
1: 153,629,641 (GRCm39) |
N52K |
probably damaging |
Het |
| Rragd |
A |
T |
4: 33,012,953 (GRCm39) |
I317F |
possibly damaging |
Het |
| Sla |
G |
T |
15: 66,664,127 (GRCm39) |
S81R |
probably benign |
Het |
| T |
A |
G |
17: 8,653,532 (GRCm39) |
E57G |
probably benign |
Het |
| Tanc1 |
T |
A |
2: 59,630,265 (GRCm39) |
F748L |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,938,136 (GRCm39) |
W3073R |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,254,052 (GRCm39) |
T967A |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Trpm1 |
T |
A |
7: 63,851,756 (GRCm39) |
M158K |
possibly damaging |
Het |
| Vmn1r205 |
A |
G |
13: 22,776,424 (GRCm39) |
L226P |
probably benign |
Het |
| Vmn1r56 |
C |
T |
7: 5,198,733 (GRCm39) |
V295M |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,778,566 (GRCm39) |
D208G |
probably damaging |
Het |
| Zfp11 |
T |
C |
5: 129,735,278 (GRCm39) |
D61G |
probably benign |
Het |
| Zscan4e |
C |
A |
7: 11,041,540 (GRCm39) |
E139* |
probably null |
Het |
|
| Other mutations in Dgkd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01529:Dgkd
|
APN |
1 |
87,808,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01531:Dgkd
|
APN |
1 |
87,808,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01627:Dgkd
|
APN |
1 |
87,808,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01720:Dgkd
|
APN |
1 |
87,864,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01915:Dgkd
|
APN |
1 |
87,853,780 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01941:Dgkd
|
APN |
1 |
87,852,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01951:Dgkd
|
APN |
1 |
87,844,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Dgkd
|
APN |
1 |
87,842,863 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02581:Dgkd
|
APN |
1 |
87,845,724 (GRCm39) |
splice site |
probably benign |
|
|
IGL02852:Dgkd
|
APN |
1 |
87,863,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02893:Dgkd
|
APN |
1 |
87,842,930 (GRCm39) |
splice site |
probably benign |
|
|
IGL03367:Dgkd
|
APN |
1 |
87,868,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0014:Dgkd
|
UTSW |
1 |
87,809,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Dgkd
|
UTSW |
1 |
87,845,674 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0219:Dgkd
|
UTSW |
1 |
87,865,996 (GRCm39) |
splice site |
probably benign |
|
|
R0496:Dgkd
|
UTSW |
1 |
87,864,622 (GRCm39) |
missense |
probably null |
0.83 |
|
R0559:Dgkd
|
UTSW |
1 |
87,842,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Dgkd
|
UTSW |
1 |
87,842,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Dgkd
|
UTSW |
1 |
87,861,847 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1599:Dgkd
|
UTSW |
1 |
87,809,608 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1658:Dgkd
|
UTSW |
1 |
87,853,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1745:Dgkd
|
UTSW |
1 |
87,859,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1959:Dgkd
|
UTSW |
1 |
87,857,549 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1960:Dgkd
|
UTSW |
1 |
87,857,549 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2044:Dgkd
|
UTSW |
1 |
87,855,413 (GRCm39) |
missense |
probably benign |
|
|
R2148:Dgkd
|
UTSW |
1 |
87,809,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Dgkd
|
UTSW |
1 |
87,857,464 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2266:Dgkd
|
UTSW |
1 |
87,855,540 (GRCm39) |
unclassified |
probably benign |
|
|
R3774:Dgkd
|
UTSW |
1 |
87,864,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4004:Dgkd
|
UTSW |
1 |
87,863,145 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4005:Dgkd
|
UTSW |
1 |
87,863,145 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4133:Dgkd
|
UTSW |
1 |
87,869,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4235:Dgkd
|
UTSW |
1 |
87,859,704 (GRCm39) |
nonsense |
probably null |
|
|
R4644:Dgkd
|
UTSW |
1 |
87,864,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Dgkd
|
UTSW |
1 |
87,861,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Dgkd
|
UTSW |
1 |
87,844,560 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5334:Dgkd
|
UTSW |
1 |
87,865,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5365:Dgkd
|
UTSW |
1 |
87,863,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5495:Dgkd
|
UTSW |
1 |
87,854,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Dgkd
|
UTSW |
1 |
87,861,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Dgkd
|
UTSW |
1 |
87,864,054 (GRCm39) |
nonsense |
probably null |
|
|
R5766:Dgkd
|
UTSW |
1 |
87,808,171 (GRCm39) |
nonsense |
probably null |
|
|
R6133:Dgkd
|
UTSW |
1 |
87,865,962 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6137:Dgkd
|
UTSW |
1 |
87,864,103 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6198:Dgkd
|
UTSW |
1 |
87,851,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6297:Dgkd
|
UTSW |
1 |
87,853,866 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6577:Dgkd
|
UTSW |
1 |
87,867,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6846:Dgkd
|
UTSW |
1 |
87,853,413 (GRCm39) |
splice site |
probably null |
|
|
R6905:Dgkd
|
UTSW |
1 |
87,863,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7369:Dgkd
|
UTSW |
1 |
87,849,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Dgkd
|
UTSW |
1 |
87,854,671 (GRCm39) |
missense |
probably benign |
|
|
R7921:Dgkd
|
UTSW |
1 |
87,851,806 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8087:Dgkd
|
UTSW |
1 |
87,844,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8119:Dgkd
|
UTSW |
1 |
87,845,689 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8731:Dgkd
|
UTSW |
1 |
87,844,535 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8849:Dgkd
|
UTSW |
1 |
87,846,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8906:Dgkd
|
UTSW |
1 |
87,869,157 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9496:Dgkd
|
UTSW |
1 |
87,857,464 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9743:Dgkd
|
UTSW |
1 |
87,861,850 (GRCm39) |
missense |
|
|
|
Z1176:Dgkd
|
UTSW |
1 |
87,855,532 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Dgkd
|
UTSW |
1 |
87,844,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCCCAGCATTTGTCTTG -3'
(R):5'- AAGGTCTGAGTCCTCTGTGG -3'
Sequencing Primer
(F):5'- CTTGTAAAATTGAGGCCCATGG -3'
(R):5'- TTGACTACCCTCAGGCAGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation