Incidental Mutation 'IGL01303:Etnk1'
ID73317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etnk1
Ensembl Gene ENSMUSG00000030275
Gene Nameethanolamine kinase 1
SynonymsEKI1, D6Ertd3e, 4930555L11Rik, 1110061E11Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01303
Quality Score
Status
Chromosome6
Chromosomal Location143167221-143232307 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 143180666 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,194,331 T72A possibly damaging Het
Adamts7 A C 9: 90,171,734 I111L possibly damaging Het
Ankrd13a A T 5: 114,786,002 H53L possibly damaging Het
Becn1 T C 11: 101,294,985 D145G possibly damaging Het
Bod1l A G 5: 41,817,599 V2124A probably benign Het
Celsr1 C T 15: 86,030,491 A1094T probably damaging Het
Clstn2 A T 9: 97,483,075 Y459* probably null Het
Cnksr3 A G 10: 7,154,281 probably null Het
Cux2 A T 5: 121,865,928 F1048L probably benign Het
Cybrd1 A G 2: 71,129,706 K83E probably damaging Het
Dpp8 A T 9: 65,055,012 probably benign Het
Eef2 T A 10: 81,181,943 V813E possibly damaging Het
Eef2 A T 10: 81,181,982 probably null Het
Fam151a A G 4: 106,747,593 N384S possibly damaging Het
Fam83c A G 2: 155,834,442 L136P probably damaging Het
Gfra2 G A 14: 70,895,852 V41I probably benign Het
Gm960 T C 19: 4,659,482 T318A possibly damaging Het
Mroh9 A G 1: 163,080,575 I2T probably benign Het
Muc2 A G 7: 141,752,395 I274V probably benign Het
Nacad T G 11: 6,598,279 E1456A possibly damaging Het
Npy4r T A 14: 34,146,657 I225F possibly damaging Het
Olfr401 T G 11: 74,121,334 F15C probably damaging Het
Pik3c2a T C 7: 116,373,803 D719G possibly damaging Het
Pparg G T 6: 115,472,954 V305L possibly damaging Het
Rictor A G 15: 6,708,638 N19D probably benign Het
Slc4a1 T C 11: 102,357,964 T292A probably benign Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Sorl1 A G 9: 42,024,478 probably benign Het
Tal1 T C 4: 115,068,292 V186A probably benign Het
Trpm1 T A 7: 64,210,830 probably benign Het
Tyw5 A T 1: 57,388,553 Y297* probably null Het
Unc79 C A 12: 103,161,867 Q2131K possibly damaging Het
Other mutations in Etnk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0415:Etnk1 UTSW 6 143180774 missense probably damaging 1.00
R0928:Etnk1 UTSW 6 143184703 missense probably benign 0.00
R1542:Etnk1 UTSW 6 143180641 missense probably benign 0.00
R4648:Etnk1 UTSW 6 143195274 missense probably damaging 1.00
R4744:Etnk1 UTSW 6 143186593 missense probably damaging 1.00
R4823:Etnk1 UTSW 6 143167638 critical splice donor site probably null
R5039:Etnk1 UTSW 6 143195317 critical splice donor site probably null
R5909:Etnk1 UTSW 6 143197438 missense probably benign 0.02
R6207:Etnk1 UTSW 6 143180798 missense probably damaging 0.99
R6743:Etnk1 UTSW 6 143180617 missense possibly damaging 0.68
R7009:Etnk1 UTSW 6 143203154 critical splice donor site probably null
X0026:Etnk1 UTSW 6 143180726 missense probably damaging 1.00
Posted On2013-10-07