Incidental Mutation 'R8673:Etnk2'
| ID |
661237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etnk2
|
| Ensembl Gene |
ENSMUSG00000070644 |
| Gene Name |
ethanolamine kinase 2 |
| Synonyms |
Eki2, 4933417N20Rik |
| MMRRC Submission |
068528-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
R8673 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133291310-133308074 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133302300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 273
(Y273H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129213]
[ENSMUST00000135222]
|
| AlphaFold |
A7MCT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129213
AA Change: Y170H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122244
Gene: ENSMUSG00000070644
AA Change: Y170H
| 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 damaging
Transcript: ENSMUST00000135222
AA Change: Y273H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114272
Gene: ENSMUSG00000070644
AA Change: Y273H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Anxa9 |
C |
T |
3: 95,207,657 (GRCm39) |
R250Q |
probably benign |
Het |
| Apaf1 |
A |
G |
10: 90,831,530 (GRCm39) |
S1195P |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,212,852 (GRCm39) |
|
probably benign |
Het |
| Bpifb6 |
G |
T |
2: 153,747,212 (GRCm39) |
C172F |
probably damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,018,286 (GRCm39) |
D7E |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,844,846 (GRCm39) |
I580F |
probably damaging |
Het |
| Chchd6 |
T |
A |
6: 89,546,380 (GRCm39) |
S109C |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,648,201 (GRCm39) |
|
probably benign |
Het |
| Col4a6 |
G |
A |
X: 140,017,173 (GRCm39) |
P60L |
probably damaging |
Het |
| Cxxc1 |
C |
T |
18: 74,351,915 (GRCm39) |
T264I |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,830,151 (GRCm39) |
S58P |
probably benign |
Het |
| Dlgap1 |
T |
A |
17: 71,122,293 (GRCm39) |
H907Q |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,405,523 (GRCm39) |
M663K |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,160,867 (GRCm39) |
M1791I |
probably damaging |
Het |
| Esd |
T |
C |
14: 74,969,952 (GRCm39) |
F8S |
probably benign |
Het |
| Fry |
C |
A |
5: 150,318,576 (GRCm39) |
H935Q |
possibly damaging |
Het |
| Gabrr3 |
T |
G |
16: 59,235,633 (GRCm39) |
M45R |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,478,258 (GRCm39) |
T114A |
probably benign |
Het |
| Gcnt4 |
G |
A |
13: 97,082,997 (GRCm39) |
D98N |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igkv1-99 |
C |
T |
6: 68,519,387 (GRCm39) |
Q115* |
probably null |
Het |
| Irak3 |
G |
T |
10: 119,982,493 (GRCm39) |
T323K |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,302,804 (GRCm39) |
D2975G |
probably damaging |
Het |
| Mybph |
T |
A |
1: 134,126,142 (GRCm39) |
W319R |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,869,343 (GRCm39) |
D206G |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,114,658 (GRCm39) |
D8V |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,590 (GRCm39) |
V25A |
probably benign |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,581 (GRCm39) |
I85T |
probably benign |
Het |
| Pex1 |
A |
C |
5: 3,685,886 (GRCm39) |
D1209A |
possibly damaging |
Het |
| Phf10 |
T |
C |
17: 15,170,868 (GRCm39) |
D355G |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,475,638 (GRCm39) |
S413P |
probably damaging |
Het |
| Ptgir |
G |
T |
7: 16,641,287 (GRCm39) |
C193F |
probably damaging |
Het |
| Rad21l |
A |
G |
2: 151,502,718 (GRCm39) |
I164T |
possibly damaging |
Het |
| Ralgapb |
G |
A |
2: 158,292,133 (GRCm39) |
R773H |
probably damaging |
Het |
| Rasgef1b |
G |
T |
5: 99,370,844 (GRCm39) |
N385K |
probably damaging |
Het |
| Shank3 |
C |
T |
15: 89,433,979 (GRCm39) |
R1575C |
probably damaging |
Het |
| Slc7a2 |
G |
T |
8: 41,365,446 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,253,561 (GRCm39) |
H1396R |
probably benign |
Het |
| Spire2 |
A |
G |
8: 124,086,867 (GRCm39) |
E446G |
probably damaging |
Het |
| Tdpoz2 |
A |
T |
3: 93,558,918 (GRCm39) |
C351* |
probably null |
Het |
| Thoc5 |
G |
A |
11: 4,876,061 (GRCm39) |
V605I |
possibly damaging |
Het |
| Ttll2 |
C |
T |
17: 7,619,340 (GRCm39) |
V196I |
possibly damaging |
Het |
| Uba6 |
A |
G |
5: 86,284,178 (GRCm39) |
Y576H |
probably damaging |
Het |
| Vegfb |
G |
A |
19: 6,962,812 (GRCm39) |
P188L |
unknown |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,277 (GRCm39) |
|
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,521,902 (GRCm39) |
T146S |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,633,584 (GRCm39) |
Y945C |
probably damaging |
Het |
| Zfp870 |
C |
T |
17: 33,101,904 (GRCm39) |
C475Y |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,678,268 (GRCm39) |
T98S |
possibly 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 |
|
R8290:Etnk2
|
UTSW |
1 |
133,307,127 (GRCm39) |
makesense |
probably null |
|
|
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'- CTGTGGACAGGTGCCATTAG -3'
(R):5'- GCTCTTTAAAAGCAGGCTGTG -3'
Sequencing Primer
(F):5'- AACCTGAGGACCCAGTTGAGC -3'
(R):5'- GTGCCCAACTCTCATCAAGTCTAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation