Incidental Mutation 'R5039:Etnk1'
ID 395698
Institutional Source Beutler Lab
Gene Symbol Etnk1
Ensembl Gene ENSMUSG00000030275
Gene Name ethanolamine kinase 1
Synonyms 1110061E11Rik, D6Ertd3e, EKI1, 4930555L11Rik
MMRRC Submission 042629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5039 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 143112592-143154272 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 143141043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032413] [ENSMUST00000204947] [ENSMUST00000205256]
AlphaFold Q9D4V0
Predicted Effect probably null
Transcript: ENSMUST00000032413
SMART Domains Protein: ENSMUSP00000032413
Gene: ENSMUSG00000030275

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 null
Transcript: ENSMUST00000204947
SMART Domains Protein: ENSMUSP00000145041
Gene: ENSMUSG00000030275

DomainStartEndE-ValueType
Pfam:APH 50 296 2.3e-14 PFAM
Pfam:Choline_kinase 71 276 2.7e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000205256
SMART Domains Protein: ENSMUSP00000144903
Gene: ENSMUSG00000030275

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
Meta Mutation Damage Score 0.9499 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,192,863 (GRCm39) A161V probably damaging Het
Anapc2 T C 2: 25,164,808 (GRCm39) I64T possibly damaging Het
Arfgef1 T C 1: 10,269,961 (GRCm39) D396G probably benign Het
Ark2c A G 18: 77,550,608 (GRCm39) S107P probably damaging Het
Axl C T 7: 25,485,340 (GRCm39) V163M probably damaging Het
Blm G A 7: 80,155,621 (GRCm39) P353S possibly damaging Het
Btaf1 T C 19: 36,968,162 (GRCm39) Y1116H probably benign Het
Ccdc18 T A 5: 108,306,514 (GRCm39) probably null Het
Ccdc87 T C 19: 4,890,429 (GRCm39) probably null Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ctr9 C A 7: 110,642,064 (GRCm39) H297Q probably benign Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,734 (GRCm39) probably null Het
Dock4 C A 12: 40,867,745 (GRCm39) N1440K probably damaging Het
Fam120a A T 13: 49,063,726 (GRCm39) probably null Het
Fanca T C 8: 124,010,785 (GRCm39) D908G probably benign Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm3633 A C 14: 42,461,161 (GRCm39) N42K possibly damaging Het
Gm4781 C A 10: 100,232,851 (GRCm39) noncoding transcript Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gpr139 A G 7: 118,744,165 (GRCm39) V140A probably benign Het
Ighv1-62-3 G T 12: 115,425,014 (GRCm39) T13K probably benign Het
Itgb2l T C 16: 96,226,205 (GRCm39) T629A possibly damaging Het
Kcnb2 T C 1: 15,779,724 (GRCm39) S199P probably damaging Het
Kdm1b G A 13: 47,230,962 (GRCm39) G663D probably damaging Het
Lama1 A G 17: 68,052,888 (GRCm39) D407G possibly damaging Het
Macf1 T C 4: 123,405,013 (GRCm39) K391R probably damaging Het
Magi3 A T 3: 104,013,107 (GRCm39) S127T probably damaging Het
Map2 A T 1: 66,477,955 (GRCm39) D1759V probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myrfl T C 10: 116,658,616 (GRCm39) D447G probably damaging Het
Ndufb7 A G 8: 84,298,094 (GRCm39) probably benign Het
Nt5e T A 9: 88,245,634 (GRCm39) N301K probably benign Het
Or10d4b A T 9: 39,534,856 (GRCm39) T146S possibly damaging Het
Or8g27 T A 9: 39,129,410 (GRCm39) Y252* probably null Het
Pcdh10 A G 3: 45,336,296 (GRCm39) N870S probably damaging Het
Pcdh18 A G 3: 49,709,305 (GRCm39) V670A probably benign Het
Phf8-ps A C 17: 33,286,734 (GRCm39) C23G probably damaging Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Ric3 G C 7: 108,637,930 (GRCm39) S274R probably benign Het
Rimbp3 A G 16: 17,031,195 (GRCm39) T1540A probably damaging Het
Rp1l1 A T 14: 64,268,805 (GRCm39) M1464L probably benign Het
Slc41a3 A G 6: 90,603,399 (GRCm39) Y140C probably damaging Het
Ssb A T 2: 69,696,581 (GRCm39) E38D possibly damaging Het
Syt14 A T 1: 192,709,292 (GRCm39) I16N probably damaging Het
Tet3 T C 6: 83,352,878 (GRCm39) T973A probably damaging Het
Tial1 T C 7: 128,045,692 (GRCm39) probably benign Het
Tnfrsf1a A G 6: 125,337,675 (GRCm39) T89A possibly damaging Het
Trpv5 T C 6: 41,652,879 (GRCm39) Y98C possibly damaging Het
Ylpm1 T A 12: 85,062,267 (GRCm39) S265T probably damaging Het
Ylpm1 A G 12: 85,089,013 (GRCm39) D1006G 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
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
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
(F):5'- TCACCCTGTGTTGTCTCAGAAG -3'
(R):5'- AGATTCTCCCCTTCTAGTGCAG -3'

Sequencing Primer
(F):5'- GTTGTCTCAGAAGTGCATGTAACC -3'
(R):5'- CAGTATTTTCTGGTGGCAATGAG -3'
Posted On 2016-06-21