Incidental Mutation 'R0928:Etnk1'
ID 80638
Institutional Source Beutler Lab
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) question?
Stock # R0928 (G1)
Quality Score 150
Status Not validated
Chromosome 6
Chromosomal Location 143112592-143154272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143130429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 183 (I183V)
Ref Sequence ENSEMBL: ENSMUSP00000145041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032413] [ENSMUST00000204947] [ENSMUST00000205256]
AlphaFold Q9D4V0
Predicted Effect probably benign
Transcript: ENSMUST00000032413
AA Change: I183V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032413
Gene: ENSMUSG00000030275
AA Change: I183V

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 benign
Transcript: ENSMUST00000204947
AA Change: I183V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000145041
Gene: ENSMUSG00000030275
AA Change: I183V

DomainStartEndE-ValueType
Pfam:APH 50 296 2.3e-14 PFAM
Pfam:Choline_kinase 71 276 2.7e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205256
AA Change: I183V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144903
Gene: ENSMUSG00000030275
AA Change: I183V

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
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 93.0%
  • 20x: 75.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,388,333 (GRCm39) D179V probably benign Het
Abcc1 T C 16: 14,207,849 (GRCm39) probably null Het
Adad1 G A 3: 37,130,889 (GRCm39) probably null Het
Apobec4 T C 1: 152,632,028 (GRCm39) Y19H probably damaging Het
Bco2 T A 9: 50,457,231 (GRCm39) T104S probably damaging Het
Bnc1 A G 7: 81,623,250 (GRCm39) V659A probably benign Het
Ccdc168 C A 1: 44,096,388 (GRCm39) S1570I possibly damaging Het
Ccs T C 19: 4,875,988 (GRCm39) E184G probably damaging Het
Cfap70 T G 14: 20,493,987 (GRCm39) K97N probably damaging Het
Cracdl T C 1: 37,663,663 (GRCm39) D745G possibly damaging Het
Daam2 T C 17: 49,795,255 (GRCm39) I313V probably benign Het
Dach1 T C 14: 98,153,268 (GRCm39) S467G probably damaging Het
Dnah11 A G 12: 118,009,297 (GRCm39) S2122P probably damaging Het
Dnah3 T A 7: 119,629,274 (GRCm39) D1427V probably damaging Het
Dnai1 T C 4: 41,602,566 (GRCm39) F97L possibly damaging Het
Dsc1 A T 18: 20,243,306 (GRCm39) probably null Het
En2 A T 5: 28,375,329 (GRCm39) K291* probably null Het
Eps15 T C 4: 109,170,160 (GRCm39) V154A possibly damaging Het
Fcrlb A T 1: 170,735,509 (GRCm39) V255D possibly damaging Het
Fry A T 5: 150,360,549 (GRCm39) E52V probably damaging Het
Garre1 A T 7: 33,947,671 (GRCm39) probably null Het
Gm57858 A C 3: 36,079,515 (GRCm39) N258K possibly damaging Het
Gtf2h4 T C 17: 35,981,777 (GRCm39) Y152C probably damaging Het
Hao1 C A 2: 134,347,536 (GRCm39) L256F possibly damaging Het
Helz T A 11: 107,517,519 (GRCm39) I685K probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Izumo2 A T 7: 44,364,847 (GRCm39) I171F possibly damaging Het
Krt87 C A 15: 101,389,161 (GRCm39) C57F probably benign Het
Mapkbp1 A G 2: 119,845,849 (GRCm39) H400R probably benign Het
Megf6 T A 4: 154,261,504 (GRCm39) V43E probably damaging Het
Mmut T C 17: 41,248,174 (GRCm39) I67T probably benign Het
Ninl A T 2: 150,805,395 (GRCm39) V396E probably damaging Het
Nvl A T 1: 180,921,467 (GRCm39) V844E probably benign Het
Or2b6 C T 13: 21,823,126 (GRCm39) C189Y probably damaging Het
P2rx3 A T 2: 84,865,642 (GRCm39) M1K probably null Het
Pabpn1l T C 8: 123,349,358 (GRCm39) T20A probably benign Het
Ppp3r2 C A 4: 49,681,439 (GRCm39) probably null Het
Prmt6 C T 3: 110,157,998 (GRCm39) G97D probably damaging Het
Prmt9 T C 8: 78,307,805 (GRCm39) V823A probably damaging Het
Skic3 T G 13: 76,261,711 (GRCm39) L142W probably damaging Het
Skint11 C A 4: 114,101,798 (GRCm39) D79E possibly damaging Het
Slc17a8 T A 10: 89,434,545 (GRCm39) H194L probably damaging Het
Slco6c1 T A 1: 97,032,573 (GRCm39) I293F possibly damaging Het
Tcl1b4 A T 12: 105,168,865 (GRCm39) H43L probably benign Het
Tm9sf1 T C 14: 55,873,914 (GRCm39) D528G probably damaging Het
Tpbpb C T 13: 61,049,989 (GRCm39) V47I probably benign Het
Ttn G T 2: 76,737,876 (GRCm39) probably benign Het
Usp28 T G 9: 48,942,191 (GRCm39) S341A possibly damaging Het
Vwa5a T C 9: 38,639,303 (GRCm39) Y345H probably damaging Het
Wdr11 C A 7: 129,208,377 (GRCm39) D377E probably damaging Het
Zer1 A G 2: 29,991,775 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- CTGGCTAACAGTGACACAGTGAGAATC -3'
(R):5'- CCTCTAGACCTTTACGGTAATTGGTGC -3'

Sequencing Primer
(F):5'- GGCTAATAGCTCGTCAGCTT -3'
(R):5'- AGGAATGCACACCAGCACTA -3'
Posted On 2013-11-07