Incidental Mutation 'R4744:Etnk1'
ID 356576
Institutional Source Beutler Lab
Gene Symbol Etnk1
Ensembl Gene ENSMUSG00000030275
Gene Name ethanolamine kinase 1
Synonyms 1110061E11Rik, D6Ertd3e, EKI1, 4930555L11Rik
MMRRC Submission 042027-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4744 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 143112592-143154272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 143132319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 220 (N220T)
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: N220T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032413
Gene: ENSMUSG00000030275
AA Change: N220T

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: N220T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145041
Gene: ENSMUSG00000030275
AA Change: N220T

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: N220T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144903
Gene: ENSMUSG00000030275
AA Change: N220T

Pfam:APH 50 296 1.7e-14 PFAM
Pfam:Choline_kinase 71 276 2.1e-61 PFAM
Pfam:EcKinase 184 260 3e-4 PFAM
Meta Mutation Damage Score 0.9005 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (82/83)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,017,617 (GRCm39) S143P possibly damaging Het
4933427D14Rik T C 11: 72,066,365 (GRCm39) K614E probably damaging Het
Aatk A G 11: 119,906,948 (GRCm39) M155T possibly damaging Het
Acvr2b T C 9: 119,260,328 (GRCm39) L333P probably damaging Het
Adam22 T C 5: 8,128,699 (GRCm39) E865G probably damaging Het
Add2 A G 6: 86,087,870 (GRCm39) S358G probably damaging Het
Agap2 T C 10: 126,926,072 (GRCm39) probably null Het
Alkbh8 G A 9: 3,344,604 (GRCm39) W49* probably null Het
AU015228 A T 2: 129,942,549 (GRCm39) noncoding transcript Het
Bank1 G T 3: 135,953,450 (GRCm39) R102S probably benign Het
Brap T A 5: 121,800,193 (GRCm39) D27E probably damaging Het
Cyb5r2 G T 7: 107,349,484 (GRCm39) H276N possibly damaging Het
Dhh A G 15: 98,792,139 (GRCm39) F290L possibly damaging Het
Dhrs7 T A 12: 72,699,025 (GRCm39) N319I possibly damaging Het
Ebpl A G 14: 61,597,682 (GRCm39) V53A probably damaging Het
F11r T A 1: 171,288,166 (GRCm39) V64D probably benign Het
Fam171a1 T C 2: 3,225,946 (GRCm39) S360P probably damaging Het
Fignl1 A G 11: 11,751,585 (GRCm39) M490T probably damaging Het
Fpr-rs7 A T 17: 20,334,265 (GRCm39) M75K probably benign Het
Fzd7 T A 1: 59,523,595 (GRCm39) F493I possibly damaging Het
Galnt14 G T 17: 73,814,828 (GRCm39) P412T probably damaging Het
Gcg T A 2: 62,308,975 (GRCm39) S60C probably damaging Het
Ggt1 A G 10: 75,421,733 (GRCm39) K527E probably benign Het
Gm16551 T A 9: 74,758,153 (GRCm39) noncoding transcript Het
Gm9972 A G 11: 42,927,517 (GRCm39) K55E unknown Het
Gpr141 T A 13: 19,935,884 (GRCm39) D297V probably benign Het
Grin2b G A 6: 135,755,697 (GRCm39) S539L probably damaging Het
Hhipl1 A T 12: 108,286,238 (GRCm39) N515I possibly damaging Het
Hmcn1 T G 1: 150,453,363 (GRCm39) E5317D probably damaging Het
Hsf5 T A 11: 87,513,617 (GRCm39) N227K probably benign Het
Igfn1 A T 1: 135,910,196 (GRCm39) D129E probably benign Het
Invs T C 4: 48,397,609 (GRCm39) F339L probably damaging Het
Jak2 T A 19: 29,239,656 (GRCm39) S17T probably benign Het
Mdga2 T A 12: 66,844,501 (GRCm39) I166F probably benign Het
Nck1 T C 9: 100,388,797 (GRCm39) I6V probably benign Het
Neb T C 2: 52,040,589 (GRCm39) D6624G probably benign Het
Nmur2 A G 11: 55,931,661 (GRCm39) Y17H probably benign Het
Nwd2 T C 5: 63,964,310 (GRCm39) L1298P probably damaging Het
Ocel1 A G 8: 71,825,397 (GRCm39) E161G probably damaging Het
Or1j16 A T 2: 36,530,991 (GRCm39) probably null Het
Pabpc2 A G 18: 39,907,881 (GRCm39) Y382C probably benign Het
Panx1 A G 9: 14,921,594 (GRCm39) probably benign Het
Pdhx A T 2: 102,872,641 (GRCm39) V147D probably benign Het
Pigz A T 16: 31,764,151 (GRCm39) H403L probably damaging Het
Pilra T C 5: 137,833,769 (GRCm39) probably null Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Rhobtb2 A G 14: 70,031,451 (GRCm39) L558P probably damaging Het
Scarf2 G A 16: 17,621,380 (GRCm39) R322H probably damaging Het
Septin3 T C 15: 82,174,658 (GRCm39) probably null Het
Sirt2 T C 7: 28,476,438 (GRCm39) F26L probably damaging Het
Slc1a1 A T 19: 28,871,925 (GRCm39) T133S probably benign Het
Slc1a2 A G 2: 102,568,214 (GRCm39) I84V probably benign Het
Slc28a2b A T 2: 122,353,286 (GRCm39) K489* probably null Het
Slc6a9 A T 4: 117,725,092 (GRCm39) Q562L probably benign Het
Snx29 C T 16: 11,167,773 (GRCm39) Q25* probably null Het
St6galnac6 A G 2: 32,508,555 (GRCm39) I231V probably damaging Het
Stard9 A G 2: 120,526,604 (GRCm39) T954A probably benign Het
Sufu A G 19: 46,472,069 (GRCm39) M443V possibly damaging Het
Sv2b T C 7: 74,856,266 (GRCm39) D8G probably benign Het
Tapbpl G A 6: 125,205,248 (GRCm39) R233W probably damaging Het
Tex10 A G 4: 48,469,990 (GRCm39) L25S probably benign Het
Trp53bp1 A T 2: 121,041,794 (GRCm39) V1254D probably damaging Het
Ugt3a1 T A 15: 9,310,639 (GRCm39) I307N probably benign Het
Unc13c T C 9: 73,839,126 (GRCm39) D575G probably damaging Het
Usf2 A T 7: 30,654,197 (GRCm39) D166E probably damaging Het
Usp25 T A 16: 76,911,877 (GRCm39) L969M probably damaging Het
Usp32 G A 11: 84,885,219 (GRCm39) P1276L probably damaging Het
Vmn2r8 T A 5: 108,956,447 (GRCm39) E58D probably benign Het
Zfp462 G T 4: 55,011,598 (GRCm39) C40F probably damaging Het
Other mutations in Etnk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Etnk1 APN 6 143,126,392 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-11-11