Incidental Mutation 'R8290:Etnk2'
| ID |
638612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etnk2
|
| Ensembl Gene |
ENSMUSG00000070644 |
| Gene Name |
ethanolamine kinase 2 |
| Synonyms |
Eki2, 4933417N20Rik |
| MMRRC Submission |
067712-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
R8290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
133291310-133308074 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to C
at 133307127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Cysteine
at position 386
(*386C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094551]
[ENSMUST00000129213]
[ENSMUST00000135222]
[ENSMUST00000144386]
[ENSMUST00000153799]
|
| AlphaFold |
A7MCT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094551
|
| SMART Domains |
Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
171 |
217 |
N/A |
INTRINSIC |
|
HMG
|
415 |
485 |
3.09e-27 |
SMART |
|
low complexity region
|
593 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129213
AA Change: *283C
|
| SMART Domains |
Protein: ENSMUSP00000122244
Gene: ENSMUSG00000070644
AA Change: *283C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Choline_kinase
|
1 |
200 |
4.7e-64 |
PFAM |
|
Pfam:APH
|
2 |
227 |
2.2e-21 |
PFAM |
|
Pfam:EcKinase
|
58 |
211 |
1.8e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135222
AA Change: *386C
|
| SMART Domains |
Protein: ENSMUSP00000114272
Gene: ENSMUSG00000070644
AA Change: *386C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:APH
|
84 |
331 |
1e-19 |
PFAM |
|
Pfam:Choline_kinase
|
104 |
303 |
2.7e-64 |
PFAM |
|
Pfam:EcKinase
|
163 |
313 |
2.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144386
|
| SMART Domains |
Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
153 |
197 |
N/A |
INTRINSIC |
|
HMG
|
396 |
466 |
3.09e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153799
|
| SMART Domains |
Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
153 |
199 |
N/A |
INTRINSIC |
|
HMG
|
397 |
467 |
3.09e-27 |
SMART |
|
low complexity region
|
575 |
589 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous mutation of this gene results in maternal-specific intrauterine growth retardation resulting in reduced litter size and perinatal lethality due to extensive placental thrombosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,238,911 (GRCm39) |
Y1100N |
probably damaging |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,630,002 (GRCm39) |
T3576A |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,185,948 (GRCm39) |
N8K |
probably damaging |
Het |
| Aftph |
A |
T |
11: 20,675,712 (GRCm39) |
H632Q |
probably benign |
Het |
| Arhgef11 |
A |
T |
3: 87,633,275 (GRCm39) |
I710F |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,338,153 (GRCm39) |
N341S |
possibly damaging |
Het |
| Ccsap |
T |
G |
8: 124,585,986 (GRCm39) |
D55A |
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,817,037 (GRCm39) |
N816S |
probably benign |
Het |
| Celf3 |
A |
G |
3: 94,386,489 (GRCm39) |
I26V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chek2 |
A |
G |
5: 111,008,766 (GRCm39) |
E299G |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,793,719 (GRCm39) |
V312A |
possibly damaging |
Het |
| Cnn1 |
A |
G |
9: 22,012,447 (GRCm39) |
K25R |
probably benign |
Het |
| Cry1 |
A |
T |
10: 84,978,977 (GRCm39) |
Y516* |
probably null |
Het |
| Dcaf4 |
T |
C |
12: 83,588,333 (GRCm39) |
S498P |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,843,244 (GRCm39) |
V360A |
probably benign |
Het |
| Dnajc18 |
G |
A |
18: 35,816,324 (GRCm39) |
R205* |
probably null |
Het |
| Eif4a2 |
G |
T |
16: 22,927,372 (GRCm39) |
G22C |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,150,923 (GRCm39) |
I196T |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,472,859 (GRCm39) |
I342T |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etf1 |
G |
A |
18: 35,064,891 (GRCm39) |
P35L |
unknown |
Het |
| Fgg |
A |
T |
3: 82,920,141 (GRCm39) |
I307F |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,069 (GRCm39) |
Q699R |
unknown |
Het |
| Foxp4 |
T |
A |
17: 48,191,778 (GRCm39) |
T120S |
unknown |
Het |
| Fzd1 |
A |
G |
5: 4,807,060 (GRCm39) |
V174A |
possibly damaging |
Het |
| Gad1 |
A |
C |
2: 70,404,610 (GRCm39) |
I167L |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,282,171 (GRCm39) |
D55E |
probably benign |
Het |
| Grb14 |
G |
T |
2: 64,805,929 (GRCm39) |
A12E |
probably benign |
Het |
| Hnmt |
A |
C |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
| Kit |
A |
G |
5: 75,801,829 (GRCm39) |
I615V |
probably benign |
Het |
| Kpna6 |
A |
G |
4: 129,555,097 (GRCm39) |
|
probably null |
Het |
| Lpxn |
C |
T |
19: 12,810,052 (GRCm39) |
R275C |
probably damaging |
Het |
| Magi1 |
C |
T |
6: 94,260,066 (GRCm39) |
G80S |
probably damaging |
Het |
| Men1 |
A |
G |
19: 6,388,316 (GRCm39) |
I312V |
probably benign |
Het |
| Msx2 |
A |
G |
13: 53,622,528 (GRCm39) |
F161L |
probably damaging |
Het |
| Mtr |
T |
C |
13: 12,205,139 (GRCm39) |
D1107G |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,575,434 (GRCm39) |
M1397L |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,951,473 (GRCm39) |
N259S |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,196,178 (GRCm39) |
K1242R |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,476,601 (GRCm39) |
V435A |
possibly damaging |
Het |
| Nbea |
G |
A |
3: 55,966,056 (GRCm39) |
Q469* |
probably null |
Het |
| Ndufa10 |
A |
C |
1: 92,390,869 (GRCm39) |
M227R |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,953,536 (GRCm39) |
D3831N |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,015,400 (GRCm39) |
E1024G |
probably damaging |
Het |
| Oma1 |
T |
C |
4: 103,176,671 (GRCm39) |
L145P |
probably damaging |
Het |
| Phf11 |
T |
C |
14: 59,485,418 (GRCm39) |
Y114C |
probably damaging |
Het |
| Phf12 |
C |
A |
11: 77,920,465 (GRCm39) |
N1000K |
probably benign |
Het |
| Plxnb1 |
G |
T |
9: 108,938,687 (GRCm39) |
A1350S |
probably benign |
Het |
| Prkd1 |
C |
T |
12: 50,388,799 (GRCm39) |
V915I |
probably damaging |
Het |
| Prkra |
T |
A |
2: 76,463,982 (GRCm39) |
N227Y |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,798,077 (GRCm39) |
H681L |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,193 (GRCm39) |
K251R |
probably benign |
Het |
| Sema6b |
A |
T |
17: 56,431,803 (GRCm39) |
V620E |
possibly damaging |
Het |
| Senp7 |
T |
A |
16: 55,974,000 (GRCm39) |
L407* |
probably null |
Het |
| Sh3pxd2a |
A |
T |
19: 47,302,575 (GRCm39) |
L168Q |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 58,988,326 (GRCm39) |
L453P |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,733,230 (GRCm39) |
R43H |
probably benign |
Het |
| Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
| Taf2 |
A |
G |
15: 54,926,416 (GRCm39) |
F178S |
probably damaging |
Het |
| Tcp10a |
G |
A |
17: 7,601,716 (GRCm39) |
E239K |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,442,333 (GRCm39) |
V118A |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,958,973 (GRCm39) |
L729F |
probably damaging |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,724 (GRCm39) |
T265A |
probably benign |
Het |
| Vmn2r100 |
G |
A |
17: 19,751,612 (GRCm39) |
V615I |
probably damaging |
Het |
| Vmn2r60 |
T |
G |
7: 41,791,690 (GRCm39) |
C538G |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,291 (GRCm39) |
N95I |
probably damaging |
Het |
| Vsig2 |
A |
G |
9: 37,451,264 (GRCm39) |
N55S |
probably benign |
Het |
| Zfp472 |
A |
G |
17: 33,197,088 (GRCm39) |
T388A |
probably benign |
Het |
| Zfp853 |
G |
A |
5: 143,274,826 (GRCm39) |
Q214* |
probably null |
Het |
| Zfp949 |
A |
G |
9: 88,451,293 (GRCm39) |
R288G |
probably damaging |
Het |
|
| Other mutations in Etnk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1123:Etnk2
|
UTSW |
1 |
133,301,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1551:Etnk2
|
UTSW |
1 |
133,300,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Etnk2
|
UTSW |
1 |
133,300,917 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1728:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1728:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1728:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1728:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1729:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1729:Etnk2
|
UTSW |
1 |
133,291,661 (GRCm39) |
missense |
probably benign |
|
|
R1729:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1729:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1729:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1729:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1730:Etnk2
|
UTSW |
1 |
133,291,661 (GRCm39) |
missense |
probably benign |
|
|
R1730:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1730:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1730:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1730:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1739:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1739:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1739:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1739:Etnk2
|
UTSW |
1 |
133,291,661 (GRCm39) |
missense |
probably benign |
|
|
R1762:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1762:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1762:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1762:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1762:Etnk2
|
UTSW |
1 |
133,304,784 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1783:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1783:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1783:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1783:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1783:Etnk2
|
UTSW |
1 |
133,304,784 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1783:Etnk2
|
UTSW |
1 |
133,291,661 (GRCm39) |
missense |
probably benign |
|
|
R1784:Etnk2
|
UTSW |
1 |
133,291,628 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1784:Etnk2
|
UTSW |
1 |
133,304,784 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1784:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1784:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1784:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1784:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1785:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1785:Etnk2
|
UTSW |
1 |
133,291,661 (GRCm39) |
missense |
probably benign |
|
|
R1785:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1785:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1785:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1785:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2089:Etnk2
|
UTSW |
1 |
133,304,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2091:Etnk2
|
UTSW |
1 |
133,304,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2091:Etnk2
|
UTSW |
1 |
133,304,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5141:Etnk2
|
UTSW |
1 |
133,296,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5418:Etnk2
|
UTSW |
1 |
133,300,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Etnk2
|
UTSW |
1 |
133,307,043 (GRCm39) |
splice site |
probably null |
|
|
R5922:Etnk2
|
UTSW |
1 |
133,291,623 (GRCm39) |
splice site |
probably null |
|
|
R7884:Etnk2
|
UTSW |
1 |
133,293,438 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8673:Etnk2
|
UTSW |
1 |
133,302,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Etnk2
|
UTSW |
1 |
133,306,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0025:Etnk2
|
UTSW |
1 |
133,300,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Etnk2
|
UTSW |
1 |
133,293,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGATAGAAAGCTGCCC -3'
(R):5'- TAGCAGGATGAAGGGTTTTCC -3'
Sequencing Primer
(F):5'- TCTGCAGTTAGTTCAAAGGCAGC -3'
(R):5'- GGTTTTCCCCACGCCCAATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation