Incidental Mutation 'R1595:Etnk2'
| ID |
175701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etnk2
|
| Ensembl Gene |
ENSMUSG00000070644 |
| Gene Name |
ethanolamine kinase 2 |
| Synonyms |
Eki2, 4933417N20Rik |
| MMRRC Submission |
039632-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
R1595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133291310-133308074 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 133300917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 228
(L228R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129213]
[ENSMUST00000135222]
|
| AlphaFold |
A7MCT6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129213
AA Change: L125R
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122244
Gene: ENSMUSG00000070644
AA Change: L125R
| 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 |
possibly damaging
Transcript: ENSMUST00000135222
AA Change: L228R
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114272
Gene: ENSMUSG00000070644
AA Change: L228R
| 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 |
0.4384 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
97% (77/79) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
C |
T |
1: 75,153,944 (GRCm39) |
|
probably null |
Het |
| Abcc10 |
G |
T |
17: 46,633,164 (GRCm39) |
P556H |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,578,821 (GRCm39) |
D914E |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,978,764 (GRCm39) |
V193A |
probably benign |
Het |
| Adm |
A |
T |
7: 110,228,298 (GRCm39) |
T160S |
probably damaging |
Het |
| Ammecr1l |
T |
C |
18: 31,905,173 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,748,129 (GRCm39) |
D377G |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,313,593 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
T |
G |
1: 171,235,909 (GRCm39) |
M761R |
probably benign |
Het |
| Asb4 |
T |
G |
6: 5,390,692 (GRCm39) |
N28K |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,444,389 (GRCm39) |
D696E |
probably benign |
Het |
| Cd200 |
G |
A |
16: 45,215,214 (GRCm39) |
T123I |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,497,604 (GRCm39) |
V50A |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,701,987 (GRCm39) |
|
probably null |
Het |
| Chgb |
A |
C |
2: 132,635,657 (GRCm39) |
D533A |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,509,536 (GRCm39) |
Y3041H |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,024,186 (GRCm39) |
N337D |
probably benign |
Het |
| Csad |
G |
A |
15: 102,086,217 (GRCm39) |
A51V |
probably damaging |
Het |
| Cstdc7 |
T |
C |
18: 42,306,454 (GRCm39) |
M7T |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,332 (GRCm39) |
Y380C |
possibly damaging |
Het |
| Dpysl2 |
G |
T |
14: 67,052,952 (GRCm39) |
A299E |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,708,440 (GRCm39) |
E189G |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,856,847 (GRCm39) |
I940T |
probably damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,610 (GRCm39) |
I201T |
probably benign |
Het |
| Foxo1 |
A |
T |
3: 52,253,375 (GRCm39) |
M513L |
probably benign |
Het |
| Galnt16 |
A |
T |
12: 80,637,410 (GRCm39) |
K379I |
probably damaging |
Het |
| Gm57858 |
C |
T |
3: 36,073,146 (GRCm39) |
A379T |
probably damaging |
Het |
| Gtf2a1 |
T |
A |
12: 91,556,323 (GRCm39) |
N6Y |
probably damaging |
Het |
| Kcnc1 |
G |
A |
7: 46,077,010 (GRCm39) |
V271M |
probably benign |
Het |
| Klhdc8b |
T |
A |
9: 108,328,362 (GRCm39) |
D30V |
probably damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,882,914 (GRCm39) |
Q448* |
probably null |
Het |
| Med29 |
T |
C |
7: 28,091,928 (GRCm39) |
D54G |
probably damaging |
Het |
| Mfn2 |
T |
C |
4: 147,979,153 (GRCm39) |
T60A |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,317,730 (GRCm39) |
|
probably benign |
Het |
| Mxd1 |
A |
T |
6: 86,628,453 (GRCm39) |
V149E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,602 (GRCm39) |
Y974N |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,402,096 (GRCm39) |
K1107N |
probably damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,783,166 (GRCm39) |
E81G |
probably benign |
Het |
| Or10al3 |
G |
T |
17: 38,012,004 (GRCm39) |
A148S |
probably benign |
Het |
| Or9e1 |
G |
T |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
| Osbpl5 |
C |
T |
7: 143,256,955 (GRCm39) |
V392M |
possibly damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,506 (GRCm39) |
V401E |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,762,672 (GRCm39) |
H1444Q |
probably damaging |
Het |
| Pdlim2 |
A |
G |
14: 70,402,193 (GRCm39) |
Y308H |
probably damaging |
Het |
| Phf14 |
T |
G |
6: 11,988,752 (GRCm39) |
L664R |
possibly damaging |
Het |
| Phkb |
T |
C |
8: 86,753,182 (GRCm39) |
|
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,721,420 (GRCm39) |
F98I |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,652,469 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
A |
T |
14: 33,678,155 (GRCm39) |
H701L |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,550,774 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,089,729 (GRCm39) |
S373T |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,329,323 (GRCm39) |
Y769F |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,005,131 (GRCm39) |
I922V |
probably damaging |
Het |
| Serpina3g |
A |
G |
12: 104,205,531 (GRCm39) |
E90G |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,353 (GRCm39) |
T273I |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,831,675 (GRCm39) |
T350A |
probably benign |
Het |
| Socs5 |
T |
C |
17: 87,441,623 (GRCm39) |
C188R |
probably damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,723 (GRCm39) |
T45A |
probably benign |
Het |
| Th |
A |
G |
7: 142,450,745 (GRCm39) |
V117A |
probably benign |
Het |
| Thpo |
C |
A |
16: 20,547,206 (GRCm39) |
D81Y |
probably damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,385 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc4 |
A |
G |
3: 54,223,236 (GRCm39) |
E724G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,977 (GRCm39) |
T24639A |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 120,873,904 (GRCm39) |
S1176P |
probably damaging |
Het |
| Urgcp |
T |
C |
11: 5,667,447 (GRCm39) |
D297G |
probably damaging |
Het |
| Vmn1r168 |
G |
A |
7: 23,240,620 (GRCm39) |
G159D |
probably damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,597 (GRCm39) |
N226I |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,208,574 (GRCm39) |
E57G |
probably benign |
Het |
| Zdhhc14 |
G |
T |
17: 5,543,831 (GRCm39) |
R37L |
probably benign |
Het |
| Zfp512b |
G |
A |
2: 181,230,229 (GRCm39) |
T499I |
probably damaging |
Het |
| Zmym2 |
A |
T |
14: 57,158,187 (GRCm39) |
K575N |
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 |
|
R1728:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1728:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1728:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1728:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1728:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1729:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1729:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1729:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1729:Etnk2
|
UTSW |
1 |
133,291,661 (GRCm39) |
missense |
probably benign |
|
|
R1730:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1730:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1730:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1730:Etnk2
|
UTSW |
1 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1730:Etnk2
|
UTSW |
1 |
133,291,661 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
R1739:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1762:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1762:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1762:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1762:Etnk2
|
UTSW |
1 |
133,304,784 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1762: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 |
133,304,653 (GRCm39) |
missense |
probably benign |
|
|
R1783:Etnk2
|
UTSW |
1 |
133,293,555 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1783:Etnk2
|
UTSW |
1 |
133,293,554 (GRCm39) |
nonsense |
probably null |
|
|
R1783:Etnk2
|
UTSW |
1 |
133,293,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Etnk2
|
UTSW |
1 |
133,293,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1783:Etnk2
|
UTSW |
1 |
133,291,661 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
R1784:Etnk2
|
UTSW |
1 |
133,291,628 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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'- GCAGGGGTGCCATTTAGTCAGTAAC -3'
(R):5'- ACCCTTCTCTCCTAGAAATCGGCAG -3'
Sequencing Primer
(F):5'- ACAGGACACACTTATGTGTGAC -3'
(R):5'- GACCAACCAACTGCTTATGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation