Incidental Mutation 'R5822:Chkb'
ID 450001
Institutional Source Beutler Lab
Gene Symbol Chkb
Ensembl Gene ENSMUSG00000022617
Gene Name choline kinase beta
Synonyms Chkl, CK/EK-beta, Chetk
MMRRC Submission 044052-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.475) question?
Stock # R5822 (G1)
Quality Score 203
Status Validated
Chromosome 15
Chromosomal Location 89310563-89314111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89313715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 30 (E30G)
Ref Sequence ENSEMBL: ENSMUSP00000154958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023289] [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000168646] [ENSMUST00000170460] [ENSMUST00000171666] [ENSMUST00000168376]
AlphaFold O55229
Predicted Effect probably benign
Transcript: ENSMUST00000023289
AA Change: E30G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617
AA Change: E30G

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 probably benign
Transcript: ENSMUST00000052315
AA Change: E30G

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
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: ENSMUST00000165623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171140
Predicted Effect probably benign
Transcript: ENSMUST00000168646
Predicted Effect probably benign
Transcript: ENSMUST00000170460
SMART Domains Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617

DomainStartEndE-ValueType
Pfam:Choline_kinase 1 176 1e-65 PFAM
Pfam:APH 8 176 6.1e-13 PFAM
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
Predicted Effect probably benign
Transcript: ENSMUST00000168376
SMART Domains Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937

DomainStartEndE-ValueType
PDB:2LE3|A 1 42 1e-21 PDB
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (54/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8a C T 11: 109,921,705 (GRCm39) E1450K probably damaging Het
B4galnt2 T C 11: 95,756,985 (GRCm39) Y482C probably damaging Het
Bud23 A G 5: 135,092,775 (GRCm39) F9L probably damaging Het
Cacna1s A T 1: 136,039,816 (GRCm39) E1214V probably damaging Het
Cdh20 T C 1: 104,861,823 (GRCm39) M1T probably null Het
Crp A C 1: 172,525,635 (GRCm39) probably benign Het
Cyp11b1 T C 15: 74,708,670 (GRCm39) R375G probably null Het
Ddx11 C T 17: 66,436,976 (GRCm39) S90L probably benign Het
Flnc A C 6: 29,459,429 (GRCm39) I2510L probably damaging Het
Ftdc1 C A 16: 58,436,075 (GRCm39) probably null Het
Fyb1 T A 15: 6,692,707 (GRCm39) probably benign Het
Gbp3 C T 3: 142,272,239 (GRCm39) P247L probably benign Het
Ggn C T 7: 28,871,981 (GRCm39) P454S probably damaging Het
Herc1 T A 9: 66,352,894 (GRCm39) S2127T probably benign Het
Ipo11 A G 13: 106,984,926 (GRCm39) probably benign Het
Kcnh7 G A 2: 62,546,582 (GRCm39) R1000W probably benign Het
Kdm5b A T 1: 134,516,511 (GRCm39) probably benign Het
Klc3 C T 7: 19,129,724 (GRCm39) probably null Het
Lst1 A T 17: 35,407,359 (GRCm39) M3K unknown Het
Madd C T 2: 90,982,878 (GRCm39) R1355Q probably damaging Het
Map3k10 A G 7: 27,356,159 (GRCm39) L920P probably damaging Het
Mdga2 A G 12: 66,702,109 (GRCm39) V423A probably damaging Het
Mogat2 T C 7: 98,869,112 (GRCm39) D302G possibly damaging Het
Nkapl A C 13: 21,652,593 (GRCm39) S7A unknown Het
Npas2 A G 1: 39,386,647 (GRCm39) S639G probably benign Het
Nr1h5 T G 3: 102,856,644 (GRCm39) H260P probably damaging Het
Or2g25 T C 17: 37,971,122 (GRCm39) Y34C probably damaging Het
Or2t49 A T 11: 58,392,464 (GRCm39) L306Q possibly damaging Het
Or4c35 T C 2: 89,808,787 (GRCm39) S222P probably damaging Het
Or7a36 C T 10: 78,820,023 (GRCm39) T133I possibly damaging Het
Or8a1b T C 9: 37,623,087 (GRCm39) M163V probably benign Het
Pan2 T C 10: 128,156,249 (GRCm39) L1142P probably damaging Het
Pdik1l C T 4: 134,014,474 (GRCm39) E11K possibly damaging Het
Ppp1r15a A G 7: 45,172,727 (GRCm39) V555A probably damaging Het
Ppp6c G A 2: 39,090,064 (GRCm39) Q81* probably null Het
Pramel18 A G 4: 101,767,440 (GRCm39) M230V probably damaging Het
Ptprz1 A T 6: 23,001,444 (GRCm39) Y1178F probably benign Het
Relch G A 1: 105,646,581 (GRCm39) V660M probably damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rims2 T A 15: 39,339,886 (GRCm39) L860Q probably damaging Het
Sdr39u1 A G 14: 56,135,196 (GRCm39) V249A probably benign Het
Serhl T C 15: 83,000,528 (GRCm39) V305A probably benign Het
Slc5a11 T C 7: 122,851,654 (GRCm39) I201T probably damaging Het
Stk32a A T 18: 43,446,552 (GRCm39) E334V probably benign Het
Tmem217 A G 17: 29,745,529 (GRCm39) L67P probably damaging Het
Tnnt1 A T 7: 4,519,345 (GRCm39) L12* probably null Het
Trim80 C T 11: 115,338,747 (GRCm39) R526C probably damaging Het
Unc5b A T 10: 60,608,306 (GRCm39) F635I possibly damaging Het
Utp20 T G 10: 88,653,147 (GRCm39) N311T probably benign Het
Zfp276 A G 8: 123,982,457 (GRCm39) T74A probably benign Het
Other mutations in Chkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Chkb APN 15 89,311,794 (GRCm39) missense probably benign 0.05
IGL00922:Chkb APN 15 89,306,491 (GRCm39) critical splice donor site probably null
IGL00943:Chkb APN 15 89,312,951 (GRCm39) missense probably damaging 1.00
IGL01415:Chkb APN 15 89,312,987 (GRCm39) missense probably damaging 1.00
IGL01537:Chkb APN 15 89,311,986 (GRCm39) splice site probably benign
IGL01710:Chkb APN 15 89,310,843 (GRCm39) nonsense probably null
IGL01720:Chkb APN 15 89,312,155 (GRCm39) splice site probably null
IGL02725:Chkb APN 15 89,313,340 (GRCm39) missense probably damaging 1.00
R0402:Chkb UTSW 15 89,313,610 (GRCm39) missense probably benign 0.01
R1779:Chkb UTSW 15 89,313,260 (GRCm39) missense possibly damaging 0.76
R2001:Chkb UTSW 15 89,312,969 (GRCm39) missense probably damaging 1.00
R4999:Chkb UTSW 15 89,312,368 (GRCm39) missense probably damaging 1.00
R5452:Chkb UTSW 15 89,313,788 (GRCm39) unclassified probably benign
R6820:Chkb UTSW 15 89,312,379 (GRCm39) missense probably damaging 1.00
R8458:Chkb UTSW 15 89,312,376 (GRCm39) missense possibly damaging 0.53
R9673:Chkb UTSW 15 89,313,628 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGATCCACACAGGTCAG -3'
(R):5'- GAATCGCATCTGGCTTGGAAAC -3'

Sequencing Primer
(F):5'- GATCCACACAGGTCAGGCTCAG -3'
(R):5'- AGAGACTCTGCGGCTTCC -3'
Posted On 2016-12-20