Incidental Mutation 'IGL01303:Etnk1'
| ID |
73317 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Etnk1
|
| Ensembl Gene |
ENSMUSG00000030275 |
| Gene Name |
ethanolamine kinase 1 |
| Synonyms |
1110061E11Rik, D6Ertd3e, EKI1, 4930555L11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
143112592-143154272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 143126392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 79
(I79S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032413]
[ENSMUST00000204947]
[ENSMUST00000205256]
|
| AlphaFold |
Q9D4V0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032413
AA Change: I79S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032413
Gene: ENSMUSG00000030275
AA Change: I79S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APH
|
50 |
296 |
1.8e-16 |
PFAM |
|
Pfam:Choline_kinase
|
71 |
276 |
2.8e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203341
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204947
AA Change: I79S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145041
Gene: ENSMUSG00000030275
AA Change: I79S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APH
|
50 |
296 |
2.3e-14 |
PFAM |
|
Pfam:Choline_kinase
|
71 |
276 |
2.7e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205256
AA Change: I79S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144903
Gene: ENSMUSG00000030275
AA Change: I79S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APH
|
50 |
296 |
1.7e-14 |
PFAM |
|
Pfam:Choline_kinase
|
71 |
276 |
2.1e-61 |
PFAM |
|
Pfam:EcKinase
|
184 |
260 |
3e-4 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
C |
9: 90,053,787 (GRCm39) |
I111L |
possibly damaging |
Het |
| Ankrd13a |
A |
T |
5: 114,924,063 (GRCm39) |
H53L |
possibly damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,811 (GRCm39) |
D145G |
possibly damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,942 (GRCm39) |
V2124A |
probably benign |
Het |
| Cdcp3 |
A |
G |
7: 130,796,060 (GRCm39) |
T72A |
possibly damaging |
Het |
| Celsr1 |
C |
T |
15: 85,914,692 (GRCm39) |
A1094T |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,365,128 (GRCm39) |
Y459* |
probably null |
Het |
| Cnksr3 |
A |
G |
10: 7,104,281 (GRCm39) |
|
probably null |
Het |
| Cux2 |
A |
T |
5: 122,003,991 (GRCm39) |
F1048L |
probably benign |
Het |
| Cybrd1 |
A |
G |
2: 70,960,050 (GRCm39) |
K83E |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,962,294 (GRCm39) |
|
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,017,777 (GRCm39) |
V813E |
possibly damaging |
Het |
| Eef2 |
A |
T |
10: 81,017,816 (GRCm39) |
|
probably null |
Het |
| Fam151a |
A |
G |
4: 106,604,790 (GRCm39) |
N384S |
possibly damaging |
Het |
| Fam83c |
A |
G |
2: 155,676,362 (GRCm39) |
L136P |
probably damaging |
Het |
| Gfra2 |
G |
A |
14: 71,133,292 (GRCm39) |
V41I |
probably benign |
Het |
| Mroh9 |
A |
G |
1: 162,908,144 (GRCm39) |
I2T |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,306,132 (GRCm39) |
I274V |
probably benign |
Het |
| Nacad |
T |
G |
11: 6,548,279 (GRCm39) |
E1456A |
possibly damaging |
Het |
| Npy4r |
T |
A |
14: 33,868,614 (GRCm39) |
I225F |
possibly damaging |
Het |
| Or3a1b |
T |
G |
11: 74,012,160 (GRCm39) |
F15C |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,973,038 (GRCm39) |
D719G |
possibly damaging |
Het |
| Pparg |
G |
T |
6: 115,449,915 (GRCm39) |
V305L |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,738,119 (GRCm39) |
N19D |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,248,790 (GRCm39) |
T292A |
probably benign |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,935,774 (GRCm39) |
|
probably benign |
Het |
| Tal1 |
T |
C |
4: 114,925,489 (GRCm39) |
V186A |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,709,510 (GRCm39) |
T318A |
possibly damaging |
Het |
| Trpm1 |
T |
A |
7: 63,860,578 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
A |
T |
1: 57,427,712 (GRCm39) |
Y297* |
probably null |
Het |
| Unc79 |
C |
A |
12: 103,128,126 (GRCm39) |
Q2131K |
possibly damaging |
Het |
|
| Other mutations in Etnk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0415:Etnk1
|
UTSW |
6 |
143,126,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0928:Etnk1
|
UTSW |
6 |
143,130,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1542:Etnk1
|
UTSW |
6 |
143,126,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4648:Etnk1
|
UTSW |
6 |
143,141,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Etnk1
|
UTSW |
6 |
143,132,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Etnk1
|
UTSW |
6 |
143,113,364 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5039:Etnk1
|
UTSW |
6 |
143,141,043 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5909:Etnk1
|
UTSW |
6 |
143,143,164 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6207:Etnk1
|
UTSW |
6 |
143,126,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6743:Etnk1
|
UTSW |
6 |
143,126,343 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7009:Etnk1
|
UTSW |
6 |
143,148,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8985:Etnk1
|
UTSW |
6 |
143,140,953 (GRCm39) |
splice site |
probably benign |
|
|
R9486:Etnk1
|
UTSW |
6 |
143,130,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9518:Etnk1
|
UTSW |
6 |
143,149,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Etnk1
|
UTSW |
6 |
143,126,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation