Incidental Mutation 'R1779:Chkb'
ID 197381
Institutional Source Beutler Lab
Gene Symbol Chkb
Ensembl Gene ENSMUSG00000022617
Gene Name choline kinase beta
Synonyms Chetk, Chkl, CK/EK-beta
MMRRC Submission 039810-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # R1779 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89426360-89429908 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89429057 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 109 (I109V)
Ref Sequence ENSEMBL: ENSMUSP00000154958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023289] [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000168376] [ENSMUST00000168646] [ENSMUST00000170460] [ENSMUST00000171666]
AlphaFold O55229
Predicted Effect probably benign
Transcript: ENSMUST00000023289
AA Change: I109V

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617
AA Change: I109V

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:APH 70 317 1.9e-14 PFAM
Pfam:Choline_kinase 97 308 1.5e-76 PFAM
low complexity region 324 344 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000052315
AA Change: I109V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000109313
SMART Domains Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937

DomainStartEndE-ValueType
Pfam:CPT_N 1 47 2.5e-29 PFAM
Pfam:Carn_acyltransf 173 762 1.3e-183 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166267
Predicted Effect probably benign
Transcript: ENSMUST00000168376
SMART Domains Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937

DomainStartEndE-ValueType
PDB:2LE3|A 1 42 1e-21 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000168646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170334
Predicted Effect probably benign
Transcript: ENSMUST00000170460
AA Change: I13V

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617
AA Change: I13V

DomainStartEndE-ValueType
Pfam:Choline_kinase 1 176 1e-65 PFAM
Pfam:APH 8 176 6.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171140
Predicted Effect probably benign
Transcript: ENSMUST00000171666
SMART Domains Protein: ENSMUSP00000127191
Gene: ENSMUSG00000022617

DomainStartEndE-ValueType
Pfam:Choline_kinase 1 142 2.5e-51 PFAM
Pfam:APH 1 149 6.9e-14 PFAM
Pfam:EcKinase 2 116 8.8e-8 PFAM
Meta Mutation Damage Score 0.0902 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 97% (101/104)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,406,514 (GRCm38) L476F probably damaging Het
1700061G19Rik T A 17: 56,885,169 (GRCm38) Y577* probably null Het
4930432E11Rik A T 7: 29,579,166 (GRCm38) noncoding transcript Het
A930011G23Rik A T 5: 99,223,038 (GRCm38) probably benign Het
Abcd3 A G 3: 121,781,963 (GRCm38) Y217H probably damaging Het
Abraxas1 A T 5: 100,817,956 (GRCm38) probably benign Het
Acsbg1 T C 9: 54,616,062 (GRCm38) Y427C probably damaging Het
Adam10 T A 9: 70,776,369 (GRCm38) probably benign Het
Adam24 G A 8: 40,680,965 (GRCm38) V491I possibly damaging Het
Adamts2 T G 11: 50,756,697 (GRCm38) V299G probably damaging Het
Adh7 A G 3: 138,223,991 (GRCm38) T143A probably damaging Het
Ahcyl1 A G 3: 107,674,103 (GRCm38) S81P probably benign Het
Arhgap20 C A 9: 51,849,915 (GRCm38) T986K probably benign Het
Atp13a5 A T 16: 29,314,660 (GRCm38) I391N possibly damaging Het
Atp6v0a1 C A 11: 101,026,685 (GRCm38) A143E probably benign Het
Calcrl A G 2: 84,351,285 (GRCm38) I173T probably damaging Het
Casz1 A G 4: 148,932,937 (GRCm38) T228A probably benign Het
Cckar A G 5: 53,699,979 (GRCm38) I292T probably damaging Het
Cfhr2 T A 1: 139,858,645 (GRCm38) probably null Het
Clec2i T C 6: 128,888,106 (GRCm38) probably null Het
Clec4a4 T A 6: 123,023,975 (GRCm38) W216R probably damaging Het
Cntnap1 A C 11: 101,186,511 (GRCm38) I1000L probably damaging Het
Cp C A 3: 19,957,385 (GRCm38) D34E possibly damaging Het
Cse1l T C 2: 166,940,124 (GRCm38) probably null Het
Dennd3 T C 15: 73,522,508 (GRCm38) probably null Het
Dnah7a A G 1: 53,577,223 (GRCm38) V1193A probably benign Het
Eaf2 A G 16: 36,810,470 (GRCm38) probably null Het
Ephb2 T C 4: 136,693,825 (GRCm38) T405A possibly damaging Het
Fam117a G A 11: 95,378,953 (GRCm38) V348M probably damaging Het
Fh1 T C 1: 175,601,424 (GRCm38) *167W probably null Het
Fmo9 T A 1: 166,663,299 (GRCm38) I486F probably benign Het
Gabbr1 T A 17: 37,054,879 (GRCm38) I150N probably damaging Het
Gfpt1 T C 6: 87,077,197 (GRCm38) V478A possibly damaging Het
Gm11639 T A 11: 104,720,939 (GRCm38) S536T probably benign Het
Gm2663 A T 6: 40,997,960 (GRCm38) V59E probably damaging Het
Gm4868 T A 5: 125,848,112 (GRCm38) noncoding transcript Het
Heatr4 T A 12: 83,980,160 (GRCm38) T108S probably benign Het
Hells G T 19: 38,946,842 (GRCm38) A319S probably benign Het
Helz2 T A 2: 181,238,459 (GRCm38) Q488L possibly damaging Het
Helz2 A G 2: 181,234,987 (GRCm38) V1238A probably benign Het
Hkdc1 A G 10: 62,391,383 (GRCm38) F765S probably damaging Het
Hspg2 T A 4: 137,518,509 (GRCm38) W938R probably damaging Het
Itpr2 G A 6: 146,158,901 (GRCm38) R2473* probably null Het
Kctd1 C T 18: 15,061,782 (GRCm38) V595I probably benign Het
Krt7 A G 15: 101,423,409 (GRCm38) Y369C probably damaging Het
Krt72 T C 15: 101,780,929 (GRCm38) T323A probably benign Het
Krt76 A G 15: 101,892,687 (GRCm38) L58P unknown Het
Liph C A 16: 21,968,050 (GRCm38) R272L probably benign Het
Lrrc9 A T 12: 72,455,998 (GRCm38) K248* probably null Het
Mei4 T A 9: 81,927,142 (GRCm38) S93T probably damaging Het
Mgll T A 6: 88,813,948 (GRCm38) Y183* probably null Het
Myo5b A G 18: 74,742,147 (GRCm38) M1541V probably benign Het
Napg A G 18: 62,982,691 (GRCm38) E66G probably benign Het
Npr3 T C 15: 11,851,486 (GRCm38) D406G probably damaging Het
Nr2c2 A G 6: 92,159,243 (GRCm38) T355A possibly damaging Het
Olfr1243 A T 2: 89,527,645 (GRCm38) I255K probably benign Het
Olfr1461 T C 19: 13,165,040 (GRCm38) Y9H probably benign Het
Olfr26 A G 9: 38,855,550 (GRCm38) M163V possibly damaging Het
Olfr618 A T 7: 103,597,900 (GRCm38) I195F probably damaging Het
Olfr624 A G 7: 103,670,638 (GRCm38) I131T probably benign Het
Olfr631 G T 7: 103,929,461 (GRCm38) V213L probably benign Het
Olfr71 G A 4: 43,706,041 (GRCm38) H176Y probably damaging Het
Orai2 T C 5: 136,150,939 (GRCm38) E80G probably damaging Het
Pcdhb14 T A 18: 37,449,482 (GRCm38) V547E probably damaging Het
Pcdhb15 T C 18: 37,476,031 (GRCm38) I772T possibly damaging Het
Pcnt T C 10: 76,408,796 (GRCm38) Q1150R probably damaging Het
Pdcd6 A G 13: 74,305,581 (GRCm38) I146T probably damaging Het
Phldb2 T A 16: 45,801,625 (GRCm38) D664V probably damaging Het
Pik3ap1 A T 19: 41,332,234 (GRCm38) V182E probably damaging Het
Pip4k2a A G 2: 18,847,622 (GRCm38) V283A probably benign Het
Pkdrej A G 15: 85,821,171 (GRCm38) V188A possibly damaging Het
Pnpla6 T C 8: 3,541,404 (GRCm38) W1151R probably damaging Het
Ppp1r14c A G 10: 3,366,890 (GRCm38) Y75C probably damaging Het
Prl2b1 C T 13: 27,383,469 (GRCm38) D224N probably benign Het
Ptgis A G 2: 167,214,858 (GRCm38) S270P probably benign Het
Rgs11 C A 17: 26,210,666 (GRCm38) A446D probably damaging Het
Rims2 A G 15: 39,681,702 (GRCm38) T1531A probably damaging Het
Sbno1 A T 5: 124,388,517 (GRCm38) probably benign Het
Scarb2 C G 5: 92,448,557 (GRCm38) M409I probably benign Het
Scube3 C T 17: 28,168,379 (GRCm38) probably benign Het
Slc44a4 T C 17: 34,921,925 (GRCm38) I180T probably damaging Het
Slc9a2 T C 1: 40,742,643 (GRCm38) M344T probably damaging Het
Smc3 A T 19: 53,639,369 (GRCm38) T860S probably benign Het
Snrpa A G 7: 27,191,749 (GRCm38) I99T probably benign Het
Sorcs1 A G 19: 50,175,043 (GRCm38) probably benign Het
Sorl1 C T 9: 41,991,482 (GRCm38) probably null Het
Suds3 T C 5: 117,105,244 (GRCm38) K143R probably benign Het
Supt20 A T 3: 54,714,743 (GRCm38) M424L probably benign Het
Tgtp2 T C 11: 49,058,924 (GRCm38) M274V probably benign Het
Tmem158 T A 9: 123,259,909 (GRCm38) M213L probably benign Het
Tnks C A 8: 34,857,518 (GRCm38) R639L probably benign Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Trmt10c A C 16: 56,034,575 (GRCm38) N232K possibly damaging Het
Trpm6 C T 19: 18,856,217 (GRCm38) R1587W probably damaging Het
Trrap G A 5: 144,828,590 (GRCm38) V2539I probably benign Het
Tsg101 A G 7: 46,907,087 (GRCm38) S115P probably benign Het
Ttll13 G T 7: 80,260,508 (GRCm38) V800L probably benign Het
Vmn1r57 A G 7: 5,220,577 (GRCm38) T34A possibly damaging Het
Vmn2r118 T A 17: 55,611,530 (GRCm38) T121S probably benign Het
Wdr35 A G 12: 8,985,772 (GRCm38) I238M possibly damaging Het
Wisp2 G A 2: 163,828,986 (GRCm38) V138M probably damaging Het
Zfp81 T A 17: 33,335,106 (GRCm38) T245S probably benign Het
Zfyve26 G T 12: 79,278,463 (GRCm38) P824Q probably damaging Het
Other mutations in Chkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Chkb APN 15 89,427,591 (GRCm38) missense probably benign 0.05
IGL00922:Chkb APN 15 89,422,288 (GRCm38) critical splice donor site probably null
IGL00943:Chkb APN 15 89,428,748 (GRCm38) missense probably damaging 1.00
IGL01415:Chkb APN 15 89,428,784 (GRCm38) missense probably damaging 1.00
IGL01537:Chkb APN 15 89,427,783 (GRCm38) splice site probably benign
IGL01710:Chkb APN 15 89,426,640 (GRCm38) nonsense probably null
IGL01720:Chkb APN 15 89,427,952 (GRCm38) splice site probably null
IGL02725:Chkb APN 15 89,429,137 (GRCm38) missense probably damaging 1.00
R0402:Chkb UTSW 15 89,429,407 (GRCm38) missense probably benign 0.01
R2001:Chkb UTSW 15 89,428,766 (GRCm38) missense probably damaging 1.00
R4999:Chkb UTSW 15 89,428,165 (GRCm38) missense probably damaging 1.00
R5452:Chkb UTSW 15 89,429,585 (GRCm38) unclassified probably benign
R5822:Chkb UTSW 15 89,429,512 (GRCm38) missense probably benign 0.22
R6820:Chkb UTSW 15 89,428,176 (GRCm38) missense probably damaging 1.00
R8458:Chkb UTSW 15 89,428,173 (GRCm38) missense possibly damaging 0.53
R9673:Chkb UTSW 15 89,429,425 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCCAAATCGGCTTCATCTAC -3'
(R):5'- ATGCTAAGTGCCCAGAGCCAATCC -3'

Sequencing Primer
(F):5'- GGCTTCATCTACAATAGCTTGGAC -3'
(R):5'- GACACTCCCAGTTCGGTC -3'
Posted On 2014-05-23