Incidental Mutation 'R5141:Etnk2'
ID |
396435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Etnk2
|
Ensembl Gene |
ENSMUSG00000070644 |
Gene Name |
ethanolamine kinase 2 |
Synonyms |
Eki2, 4933417N20Rik |
MMRRC Submission |
042727-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.453)
|
Stock # |
R5141 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133291310-133308074 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133296600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 210
(I210V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114272
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129213]
[ENSMUST00000135222]
|
AlphaFold |
A7MCT6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000129213
AA Change: I107V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122244 Gene: ENSMUSG00000070644 AA Change: I107V
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 |
noncoding transcript
Transcript: ENSMUST00000131450
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135222
AA Change: I210V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000114272 Gene: ENSMUSG00000070644 AA Change: I210V
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 |
noncoding transcript
Transcript: ENSMUST00000147909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156832
|
Meta Mutation Damage Score |
0.0764 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (76/79) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
A |
G |
14: 68,810,577 (GRCm39) |
V193A |
probably benign |
Het |
Adamts18 |
T |
A |
8: 114,501,902 (GRCm39) |
T320S |
probably damaging |
Het |
Adamtsl1 |
G |
T |
4: 86,075,087 (GRCm39) |
M151I |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,419,037 (GRCm39) |
V5986E |
probably damaging |
Het |
Aifm3 |
A |
G |
16: 17,317,586 (GRCm39) |
E69G |
probably damaging |
Het |
Akap13 |
C |
A |
7: 75,259,362 (GRCm39) |
T662K |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,598,414 (GRCm39) |
D1080G |
probably benign |
Het |
Als2 |
T |
C |
1: 59,209,611 (GRCm39) |
E1457G |
possibly damaging |
Het |
Apobec4 |
A |
G |
1: 152,631,964 (GRCm39) |
|
probably benign |
Het |
Apoo-ps |
C |
T |
13: 107,550,895 (GRCm39) |
|
noncoding transcript |
Het |
Aspscr1 |
G |
A |
11: 120,580,003 (GRCm39) |
V181I |
probably benign |
Het |
Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
C3 |
T |
A |
17: 57,526,570 (GRCm39) |
I804F |
probably damaging |
Het |
Cbfa2t3 |
C |
T |
8: 123,361,760 (GRCm39) |
G421R |
probably benign |
Het |
Chmp4c |
A |
G |
3: 10,432,213 (GRCm39) |
E41G |
probably damaging |
Het |
Clk4 |
T |
A |
11: 51,166,598 (GRCm39) |
F96L |
possibly damaging |
Het |
Ctsg |
G |
A |
14: 56,339,184 (GRCm39) |
R25* |
probably null |
Het |
Cul1 |
A |
G |
6: 47,497,773 (GRCm39) |
D618G |
probably benign |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dip2a |
G |
A |
10: 76,106,287 (GRCm39) |
T1326I |
probably damaging |
Het |
Gm5773 |
T |
A |
3: 93,681,034 (GRCm39) |
D235E |
probably benign |
Het |
Gm7353 |
T |
C |
7: 3,161,001 (GRCm39) |
|
noncoding transcript |
Het |
Gpi1 |
G |
A |
7: 33,926,521 (GRCm39) |
|
probably benign |
Het |
Ing4 |
T |
C |
6: 125,016,837 (GRCm39) |
M5T |
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,419,168 (GRCm39) |
I583V |
probably benign |
Het |
Isyna1 |
T |
C |
8: 71,047,543 (GRCm39) |
V64A |
probably damaging |
Het |
Katnal2 |
T |
A |
18: 77,085,337 (GRCm39) |
D310V |
probably damaging |
Het |
Kbtbd8 |
A |
G |
6: 95,098,820 (GRCm39) |
T126A |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,906,197 (GRCm39) |
D582G |
probably benign |
Het |
Lmf2 |
G |
A |
15: 89,235,810 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,382,693 (GRCm39) |
|
probably null |
Het |
Lrp4 |
T |
C |
2: 91,309,023 (GRCm39) |
|
probably benign |
Het |
Lyzl1 |
A |
C |
18: 4,169,209 (GRCm39) |
D71A |
possibly damaging |
Het |
Mak |
C |
T |
13: 41,186,039 (GRCm39) |
C543Y |
possibly damaging |
Het |
Mapk8ip1 |
T |
C |
2: 92,217,110 (GRCm39) |
D404G |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,071,467 (GRCm39) |
E385K |
probably benign |
Het |
Mst1r |
T |
A |
9: 107,789,440 (GRCm39) |
I573N |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,368,479 (GRCm39) |
N2365K |
possibly damaging |
Het |
Ncan |
T |
C |
8: 70,565,487 (GRCm39) |
E179G |
probably damaging |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or10d5 |
T |
G |
9: 39,861,170 (GRCm39) |
K299T |
probably benign |
Het |
Or4c122 |
A |
C |
2: 89,079,473 (GRCm39) |
Y176* |
probably null |
Het |
Or8g20 |
A |
G |
9: 39,395,827 (GRCm39) |
F238L |
probably damaging |
Het |
Pcolce |
G |
T |
5: 137,604,012 (GRCm39) |
Q352K |
probably benign |
Het |
Peg3 |
G |
T |
7: 6,712,381 (GRCm39) |
T947N |
probably benign |
Het |
Pld3 |
C |
T |
7: 27,233,220 (GRCm39) |
D344N |
probably damaging |
Het |
Plec |
A |
C |
15: 76,074,733 (GRCm39) |
D411E |
probably damaging |
Het |
Pmp2 |
C |
T |
3: 10,247,474 (GRCm39) |
D72N |
probably benign |
Het |
Ptpn9 |
T |
C |
9: 56,943,960 (GRCm39) |
V278A |
possibly damaging |
Het |
Rbm33 |
A |
G |
5: 28,557,687 (GRCm39) |
H300R |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,987,546 (GRCm39) |
Q837R |
probably benign |
Het |
Rwdd4a |
T |
C |
8: 48,003,709 (GRCm39) |
|
probably benign |
Het |
Sema6a |
T |
C |
18: 47,381,455 (GRCm39) |
T1048A |
probably damaging |
Het |
Senp1 |
G |
A |
15: 97,974,488 (GRCm39) |
A108V |
probably benign |
Het |
Serpine2 |
G |
T |
1: 79,780,580 (GRCm39) |
Q290K |
possibly damaging |
Het |
Sesn1 |
A |
G |
10: 41,687,097 (GRCm39) |
N27S |
probably benign |
Het |
Shroom1 |
T |
A |
11: 53,354,809 (GRCm39) |
L243* |
probably null |
Het |
Slc17a5 |
A |
G |
9: 78,448,270 (GRCm39) |
Y395H |
probably damaging |
Het |
Slc5a8 |
T |
C |
10: 88,755,422 (GRCm39) |
|
probably null |
Het |
Sptbn5 |
G |
A |
2: 119,892,212 (GRCm39) |
S1083F |
probably benign |
Het |
Stx4a |
T |
A |
7: 127,445,787 (GRCm39) |
V231E |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,287,145 (GRCm39) |
S116T |
probably benign |
Het |
Syt9 |
C |
T |
7: 107,103,426 (GRCm39) |
T408I |
probably damaging |
Het |
Tgm7 |
T |
C |
2: 120,931,480 (GRCm39) |
T228A |
probably benign |
Het |
Tmem115 |
A |
G |
9: 107,415,141 (GRCm39) |
D310G |
probably benign |
Het |
Trcg1 |
G |
A |
9: 57,148,587 (GRCm39) |
G53D |
probably damaging |
Het |
Tsfm |
T |
C |
10: 126,865,482 (GRCm39) |
K100E |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,822,446 (GRCm39) |
T587A |
probably damaging |
Het |
Vcpip1 |
G |
T |
1: 9,818,302 (GRCm39) |
A27E |
unknown |
Het |
Vmn2r49 |
T |
C |
7: 9,720,300 (GRCm39) |
N397S |
probably benign |
Het |
Vmn2r8 |
A |
G |
5: 108,956,572 (GRCm39) |
S17P |
probably damaging |
Het |
Vwa3b |
A |
G |
1: 37,226,102 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,998,114 (GRCm39) |
S1094T |
probably benign |
Het |
Zbtb22 |
C |
G |
17: 34,137,610 (GRCm39) |
S585C |
possibly damaging |
Het |
Zhx2 |
A |
G |
15: 57,685,182 (GRCm39) |
T184A |
probably benign |
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 |
|
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 |
R8290:Etnk2
|
UTSW |
1 |
133,307,127 (GRCm39) |
makesense |
probably null |
|
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'- AGAAGAACCTTCCAGACCTTTTC -3'
(R):5'- TGATCCCTGTTGCTGAGATG -3'
Sequencing Primer
(F):5'- ACCTTTTCTGGTCAGGAGGG -3'
(R):5'- ACAGGCAACTGCATCTC -3'
|
Posted On |
2016-06-21 |