Incidental Mutation 'R8189:Chka'
ID 635047
Institutional Source Beutler Lab
Gene Symbol Chka
Ensembl Gene ENSMUSG00000024843
Gene Name choline kinase alpha
Synonyms choline/ethanolamine kinase alpha, EtnK-alpha, CK/EK-alpha, Chk, ChoK
MMRRC Submission 067612-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8189 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 3851773-3894369 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 3875759 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 159 (E159*)
Ref Sequence ENSEMBL: ENSMUSP00000025760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025760] [ENSMUST00000072055] [ENSMUST00000128694] [ENSMUST00000153343]
AlphaFold O54804
Predicted Effect probably null
Transcript: ENSMUST00000025760
AA Change: E159*
SMART Domains Protein: ENSMUSP00000025760
Gene: ENSMUSG00000024843
AA Change: E159*

low complexity region 13 24 N/A INTRINSIC
low complexity region 53 74 N/A INTRINSIC
Pfam:APH 108 373 2.4e-11 PFAM
Pfam:Choline_kinase 135 370 8.2e-82 PFAM
Pfam:EcKinase 211 345 2.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072055
SMART Domains Protein: ENSMUSP00000071933
Gene: ENSMUSG00000024843

low complexity region 13 24 N/A INTRINSIC
low complexity region 53 74 N/A INTRINSIC
Pfam:APH 108 358 6.4e-12 PFAM
Pfam:Choline_kinase 135 352 1.6e-84 PFAM
Pfam:EcKinase 190 329 2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125640
SMART Domains Protein: ENSMUSP00000119493
Gene: ENSMUSG00000024843

Pfam:Choline_kinase 40 230 2.2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128694
SMART Domains Protein: ENSMUSP00000119919
Gene: ENSMUSG00000024843

PDB:4DA5|B 1 150 2e-60 PDB
Predicted Effect probably null
Transcript: ENSMUST00000139655
AA Change: E150*
SMART Domains Protein: ENSMUSP00000116427
Gene: ENSMUSG00000024843
AA Change: E150*

low complexity region 5 16 N/A INTRINSIC
PDB:4DA5|B 17 160 3e-68 PDB
Predicted Effect silent
Transcript: ENSMUST00000153343
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality between E3.5 and E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,285,726 I1531T probably damaging Het
Ankrd13d G A 19: 4,270,852 P516S probably benign Het
Bag6 A G 17: 35,145,238 probably null Het
BC080695 T G 4: 143,571,960 Y158D probably benign Het
Cchcr1 A G 17: 35,526,666 I422V probably benign Het
Ceacam1 A G 7: 25,473,918 S282P probably damaging Het
Ckmt2 T C 13: 91,855,775 Y368C probably damaging Het
Ctsq A G 13: 61,037,155 L239P probably damaging Het
D630045J12Rik A G 6: 38,158,171 L1358P probably damaging Het
Dglucy G A 12: 100,838,630 E127K probably benign Het
Dnajb8 C T 6: 88,222,958 R159C possibly damaging Het
Fgd6 T C 10: 94,074,215 L794P probably benign Het
Fgfr2 G A 7: 130,172,899 T654I probably damaging Het
Gmeb2 G A 2: 181,277,967 T38M probably damaging Het
Gria1 T C 11: 57,217,799 F243L probably benign Het
Gria2 A T 3: 80,722,182 D244E probably damaging Het
Ints2 T A 11: 86,215,570 I1005F probably damaging Het
Ipo11 T A 13: 106,925,096 S19C probably damaging Het
Kmt2b A G 7: 30,569,331 F2658L probably damaging Het
Lrrc38 G A 4: 143,350,733 G189R probably damaging Het
Mcf2l A G 8: 12,963,164 D27G probably damaging Het
Mrgprb2 G T 7: 48,552,754 Y74* probably null Het
Nrcam C A 12: 44,570,508 P740T possibly damaging Het
Nrxn1 C T 17: 90,704,209 V331I probably damaging Het
Olfr1293-ps T C 2: 111,527,773 V153A Het
Olfr172 T A 16: 58,760,925 N84Y probably damaging Het
Olfr47 T C 6: 43,236,079 V157A probably benign Het
Olfr472 A G 7: 107,902,732 N5S probably damaging Het
Olfr792 T A 10: 129,541,253 C239S probably damaging Het
Pla2g4a A G 1: 149,857,586 F479L probably benign Het
Scaper A T 9: 55,912,120 F104I probably damaging Het
Serpinb3c A T 1: 107,276,309 C58S probably benign Het
Setdb1 A G 3: 95,346,711 V260A probably damaging Het
Shank3 A G 15: 89,549,236 T1395A probably benign Het
Skiv2l2 T A 13: 112,891,981 R628S possibly damaging Het
Slc35b4 A G 6: 34,167,635 I95T probably damaging Het
Trpm5 A G 7: 143,081,838 V599A probably benign Het
Ttk A G 9: 83,847,219 S352G probably benign Het
Ugt2b35 T A 5: 87,001,443 S184R probably damaging Het
Usp17le C T 7: 104,769,348 D196N probably damaging Het
Vmn2r15 A G 5: 109,286,847 F664L probably benign Het
Vmn2r94 A T 17: 18,258,356 L43Q probably damaging Het
Other mutations in Chka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Chka APN 19 3892189 missense probably benign 0.16
IGL02630:Chka APN 19 3892112 missense possibly damaging 0.94
R1432:Chka UTSW 19 3874809 splice site probably benign
R1840:Chka UTSW 19 3886460 missense probably benign 0.00
R1898:Chka UTSW 19 3892205 missense probably damaging 1.00
R3822:Chka UTSW 19 3882038 intron probably benign
R4272:Chka UTSW 19 3875737 splice site probably benign
R4329:Chka UTSW 19 3875803 splice site probably benign
R4573:Chka UTSW 19 3885960 missense probably damaging 1.00
R4720:Chka UTSW 19 3886375 missense probably damaging 0.99
R4923:Chka UTSW 19 3892105 critical splice acceptor site probably null
R5783:Chka UTSW 19 3864661 missense probably damaging 1.00
R5936:Chka UTSW 19 3884580 missense probably benign 0.25
R5979:Chka UTSW 19 3884513 missense probably damaging 1.00
R7429:Chka UTSW 19 3892787 missense probably damaging 1.00
R7430:Chka UTSW 19 3892787 missense probably damaging 1.00
R8213:Chka UTSW 19 3885882 missense probably damaging 1.00
R8397:Chka UTSW 19 3852414 critical splice donor site probably null
R8440:Chka UTSW 19 3893375 missense probably damaging 1.00
R9289:Chka UTSW 19 3885953 missense possibly damaging 0.75
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-07-13