Incidental Mutation 'R2007:Dgkh'
| ID |
222551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkh
|
| Ensembl Gene |
ENSMUSG00000034731 |
| Gene Name |
diacylglycerol kinase, eta |
| Synonyms |
5930402B05Rik |
| MMRRC Submission |
040016-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
78796789-78970169 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78840489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 530
(D530V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074729]
[ENSMUST00000226342]
[ENSMUST00000227537]
[ENSMUST00000227767]
[ENSMUST00000228362]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074729
AA Change: D663V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: D663V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
32 |
N/A |
INTRINSIC |
|
PH
|
63 |
157 |
1.91e-19 |
SMART |
|
C1
|
173 |
222 |
1.35e-16 |
SMART |
|
C1
|
245 |
295 |
1.66e-7 |
SMART |
|
DAGKc
|
329 |
454 |
3.11e-62 |
SMART |
|
low complexity region
|
654 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
730 |
N/A |
INTRINSIC |
|
DAGKa
|
762 |
919 |
1.74e-92 |
SMART |
|
low complexity region
|
1124 |
1134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226342
AA Change: D663V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227537
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227767
AA Change: D530V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228362
AA Change: D530V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Meta Mutation Damage Score |
0.0762 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
96% (66/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,519,855 (GRCm39) |
N1387K |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,141,987 (GRCm39) |
F8L |
probably benign |
Het |
| Abcg5 |
G |
T |
17: 84,977,348 (GRCm39) |
L270M |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,772,814 (GRCm39) |
L489S |
probably damaging |
Het |
| Acsf2 |
G |
A |
11: 94,462,466 (GRCm39) |
T183I |
possibly damaging |
Het |
| Adamts7 |
A |
T |
9: 90,059,909 (GRCm39) |
E282V |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 56,015,770 (GRCm39) |
G440R |
possibly damaging |
Het |
| AI429214 |
G |
A |
8: 37,460,923 (GRCm39) |
V24I |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,925,634 (GRCm39) |
I320T |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,665 (GRCm39) |
Q247L |
possibly damaging |
Het |
| Astn1 |
T |
G |
1: 158,436,875 (GRCm39) |
V811G |
probably damaging |
Het |
| Bard1 |
C |
T |
1: 71,070,562 (GRCm39) |
V641I |
probably benign |
Het |
| Calb2 |
T |
C |
8: 110,894,702 (GRCm39) |
E23G |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,863,730 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,154,171 (GRCm39) |
|
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,118,616 (GRCm39) |
I728V |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,951,268 (GRCm39) |
G281V |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,656,141 (GRCm39) |
G586E |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,553,833 (GRCm39) |
D66V |
probably damaging |
Het |
| Csde1 |
A |
T |
3: 102,952,107 (GRCm39) |
I204L |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,532 (GRCm39) |
V2670E |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,124,578 (GRCm39) |
V428A |
probably benign |
Het |
| Dis3l |
A |
T |
9: 64,215,558 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
G |
1: 34,265,093 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,798,814 (GRCm39) |
|
probably null |
Het |
| En1 |
A |
T |
1: 120,531,133 (GRCm39) |
E124D |
probably benign |
Het |
| Exo1 |
G |
A |
1: 175,736,096 (GRCm39) |
E827K |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,735,099 (GRCm39) |
F246L |
possibly damaging |
Het |
| Fndc1 |
G |
A |
17: 7,997,580 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
G |
A |
6: 15,396,818 (GRCm39) |
C381Y |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,595,047 (GRCm39) |
Y485N |
probably damaging |
Het |
| Gemin4 |
G |
A |
11: 76,103,444 (GRCm39) |
A439V |
possibly damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,391,657 (GRCm39) |
I155T |
unknown |
Het |
| Hmcn2 |
A |
G |
2: 31,328,267 (GRCm39) |
D4316G |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,046,824 (GRCm39) |
|
probably benign |
Het |
| Hpx |
G |
A |
7: 105,244,781 (GRCm39) |
R135C |
probably damaging |
Het |
| Khdrbs2 |
T |
G |
1: 32,559,629 (GRCm39) |
E151A |
probably benign |
Het |
| Krt6b |
A |
T |
15: 101,586,562 (GRCm39) |
L309H |
probably damaging |
Het |
| Lce1c |
G |
T |
3: 92,587,765 (GRCm39) |
C64F |
unknown |
Het |
| Marchf6 |
C |
T |
15: 31,462,087 (GRCm39) |
|
probably null |
Het |
| Myt1 |
C |
A |
2: 181,437,552 (GRCm39) |
R88S |
probably benign |
Het |
| Nemp1 |
A |
G |
10: 127,529,446 (GRCm39) |
S194G |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,639,111 (GRCm39) |
K914R |
probably damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,212 (GRCm39) |
T282S |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,951,265 (GRCm39) |
M270T |
probably benign |
Het |
| Parg |
T |
C |
14: 31,932,531 (GRCm39) |
M457T |
possibly damaging |
Het |
| Phf20 |
T |
C |
2: 156,129,874 (GRCm39) |
M482T |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,941,472 (GRCm39) |
T1598I |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,798,759 (GRCm39) |
M2689T |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,944,216 (GRCm39) |
V1091E |
probably damaging |
Het |
| Ptcd2 |
A |
T |
13: 99,456,744 (GRCm39) |
L360Q |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,821,110 (GRCm39) |
T65S |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,166,176 (GRCm39) |
T1486I |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,068,968 (GRCm39) |
L949P |
probably damaging |
Het |
| Ssc5d |
T |
G |
7: 4,931,628 (GRCm39) |
C278W |
probably damaging |
Het |
| Tbc1d14 |
T |
G |
5: 36,728,718 (GRCm39) |
H216P |
possibly damaging |
Het |
| Tmem183a |
A |
G |
1: 134,277,861 (GRCm39) |
F301S |
probably damaging |
Het |
| Tmem233 |
A |
C |
5: 116,189,496 (GRCm39) |
N94K |
possibly damaging |
Het |
| Tmprss13 |
A |
G |
9: 45,243,843 (GRCm39) |
D193G |
probably damaging |
Het |
| Tprkb |
T |
C |
6: 85,910,030 (GRCm39) |
|
probably benign |
Het |
| Tram1l1 |
A |
G |
3: 124,115,488 (GRCm39) |
H216R |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,564,484 (GRCm39) |
V28551A |
probably damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,547 (GRCm39) |
N25S |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,542,935 (GRCm39) |
N396K |
probably damaging |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,012 (GRCm39) |
L79P |
probably damaging |
Het |
| Vmn2r115 |
G |
T |
17: 23,566,927 (GRCm39) |
V480F |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,824,101 (GRCm39) |
I995V |
probably null |
Het |
|
| Other mutations in Dgkh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00654:Dgkh
|
APN |
14 |
78,847,033 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00767:Dgkh
|
APN |
14 |
78,824,701 (GRCm39) |
splice site |
probably benign |
|
|
IGL00787:Dgkh
|
APN |
14 |
78,855,954 (GRCm39) |
splice site |
probably benign |
|
|
IGL01503:Dgkh
|
APN |
14 |
78,853,710 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02308:Dgkh
|
APN |
14 |
78,825,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02707:Dgkh
|
APN |
14 |
78,823,091 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02987:Dgkh
|
APN |
14 |
78,827,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03058:Dgkh
|
APN |
14 |
78,865,237 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03341:Dgkh
|
APN |
14 |
78,832,931 (GRCm39) |
splice site |
probably benign |
|
|
PIT1430001:Dgkh
|
UTSW |
14 |
78,818,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Dgkh
|
UTSW |
14 |
78,813,382 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0153:Dgkh
|
UTSW |
14 |
78,807,569 (GRCm39) |
nonsense |
probably null |
|
|
R0730:Dgkh
|
UTSW |
14 |
78,821,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1136:Dgkh
|
UTSW |
14 |
78,862,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Dgkh
|
UTSW |
14 |
78,861,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Dgkh
|
UTSW |
14 |
78,855,984 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1771:Dgkh
|
UTSW |
14 |
78,846,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Dgkh
|
UTSW |
14 |
78,816,232 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1916:Dgkh
|
UTSW |
14 |
78,832,663 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1930:Dgkh
|
UTSW |
14 |
78,853,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Dgkh
|
UTSW |
14 |
78,853,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Dgkh
|
UTSW |
14 |
78,855,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Dgkh
|
UTSW |
14 |
78,821,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Dgkh
|
UTSW |
14 |
78,865,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4475:Dgkh
|
UTSW |
14 |
78,827,318 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4965:Dgkh
|
UTSW |
14 |
78,861,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Dgkh
|
UTSW |
14 |
78,856,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Dgkh
|
UTSW |
14 |
78,841,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Dgkh
|
UTSW |
14 |
78,865,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Dgkh
|
UTSW |
14 |
78,862,342 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5773:Dgkh
|
UTSW |
14 |
78,832,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5855:Dgkh
|
UTSW |
14 |
78,861,944 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6041:Dgkh
|
UTSW |
14 |
78,825,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Dgkh
|
UTSW |
14 |
78,865,504 (GRCm39) |
nonsense |
probably null |
|
|
R6868:Dgkh
|
UTSW |
14 |
78,862,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6981:Dgkh
|
UTSW |
14 |
78,865,182 (GRCm39) |
nonsense |
probably null |
|
|
R7095:Dgkh
|
UTSW |
14 |
78,865,224 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7473:Dgkh
|
UTSW |
14 |
78,836,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7495:Dgkh
|
UTSW |
14 |
78,816,239 (GRCm39) |
missense |
probably benign |
|
|
R7711:Dgkh
|
UTSW |
14 |
78,962,459 (GRCm39) |
missense |
probably benign |
|
|
R7727:Dgkh
|
UTSW |
14 |
78,832,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7823:Dgkh
|
UTSW |
14 |
78,841,921 (GRCm39) |
missense |
probably benign |
|
|
R7846:Dgkh
|
UTSW |
14 |
78,856,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7967:Dgkh
|
UTSW |
14 |
78,857,256 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8085:Dgkh
|
UTSW |
14 |
78,824,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8285:Dgkh
|
UTSW |
14 |
78,865,566 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8669:Dgkh
|
UTSW |
14 |
78,962,459 (GRCm39) |
missense |
probably benign |
|
|
R9069:Dgkh
|
UTSW |
14 |
78,853,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Dgkh
|
UTSW |
14 |
78,832,601 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9225:Dgkh
|
UTSW |
14 |
78,962,507 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9410:Dgkh
|
UTSW |
14 |
78,862,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9615:Dgkh
|
UTSW |
14 |
78,813,370 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9761:Dgkh
|
UTSW |
14 |
78,889,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Dgkh
|
UTSW |
14 |
78,832,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAACCTAACTCATACGTTGCC -3'
(R):5'- GACATCACTCCCAATTTGGTCAC -3'
Sequencing Primer
(F):5'- ACGTTGCCATTATTATTTTAGTGTTC -3'
(R):5'- ACTCCCAATTTGGTCACTAAATAATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation