Incidental Mutation 'IGL01710:Chkb'
| ID |
104771 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chkb
|
| Ensembl Gene |
ENSMUSG00000022617 |
| Gene Name |
choline kinase beta |
| Synonyms |
Chkl, CK/EK-beta, Chetk |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
IGL01710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89310563-89314111 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 89310843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 379
(Q379*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023289]
[ENSMUST00000052315]
[ENSMUST00000109313]
[ENSMUST00000171666]
[ENSMUST00000168376]
[ENSMUST00000168646]
[ENSMUST00000170460]
|
| AlphaFold |
O55229 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023289
AA Change: Q379*
|
| SMART Domains |
Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617
AA Change: Q379*
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109313
|
| SMART Domains |
Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000170334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171666
|
| SMART Domains |
Protein: ENSMUSP00000127191
Gene: ENSMUSG00000022617
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LE3|A
|
1 |
42 |
1e-21 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168646
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170460
|
| SMART Domains |
Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Choline_kinase
|
1 |
176 |
1e-65 |
PFAM |
|
Pfam:APH
|
8 |
176 |
6.1e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
G |
A |
18: 62,004,645 (GRCm39) |
T48I |
probably damaging |
Het |
| Ccpg1 |
T |
C |
9: 72,904,723 (GRCm39) |
|
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,872,236 (GRCm39) |
D15V |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,527,392 (GRCm39) |
V425I |
possibly damaging |
Het |
| Cpa6 |
T |
A |
1: 10,395,497 (GRCm39) |
N390I |
probably damaging |
Het |
| Efhd2 |
A |
G |
4: 141,587,872 (GRCm39) |
F193S |
probably damaging |
Het |
| Ell3 |
T |
C |
2: 121,271,993 (GRCm39) |
H128R |
probably damaging |
Het |
| Ercc5 |
T |
G |
1: 44,203,235 (GRCm39) |
L291V |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,235 (GRCm39) |
Y302C |
probably damaging |
Het |
| Fmo3 |
A |
C |
1: 162,810,612 (GRCm39) |
L26R |
probably damaging |
Het |
| Galntl6 |
T |
A |
8: 58,989,002 (GRCm39) |
D17V |
probably damaging |
Het |
| Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
| Gstt2 |
A |
G |
10: 75,669,579 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,233,114 (GRCm39) |
L221Q |
probably damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,147,554 (GRCm39) |
|
probably benign |
Het |
| Kctd12b |
T |
C |
X: 152,472,479 (GRCm39) |
D70G |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,152,320 (GRCm39) |
E125D |
probably benign |
Het |
| Klk1b21 |
T |
A |
7: 43,755,919 (GRCm39) |
F249L |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Nomo1 |
T |
A |
7: 45,687,980 (GRCm39) |
L82Q |
probably damaging |
Het |
| Or5p58 |
G |
T |
7: 107,694,449 (GRCm39) |
F109L |
probably benign |
Het |
| Papolg |
A |
T |
11: 23,814,026 (GRCm39) |
S718T |
probably damaging |
Het |
| Pex6 |
A |
G |
17: 47,036,252 (GRCm39) |
|
probably benign |
Het |
| Pi4k2a |
T |
A |
19: 42,093,418 (GRCm39) |
L253Q |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,490 (GRCm39) |
F100I |
probably damaging |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,980,404 (GRCm39) |
E312G |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,873,745 (GRCm39) |
I685V |
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,246,164 (GRCm39) |
E586G |
probably damaging |
Het |
| Sez6l2 |
C |
A |
7: 126,567,388 (GRCm39) |
T841K |
probably damaging |
Het |
| Slc25a17 |
A |
T |
15: 81,211,527 (GRCm39) |
L163* |
probably null |
Het |
| Slc35f3 |
A |
T |
8: 127,115,900 (GRCm39) |
I276F |
probably benign |
Het |
| Tcerg1l |
T |
A |
7: 137,996,789 (GRCm39) |
K149N |
possibly damaging |
Het |
| Tex28 |
T |
A |
X: 73,195,939 (GRCm39) |
K278* |
probably null |
Het |
| Tmprss9 |
A |
G |
10: 80,733,793 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8l1 |
A |
G |
17: 56,478,782 (GRCm39) |
K24R |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,321,455 (GRCm39) |
|
probably benign |
Het |
| Uba1 |
C |
T |
X: 20,537,604 (GRCm39) |
T274I |
possibly damaging |
Het |
| Ubr2 |
T |
C |
17: 47,254,335 (GRCm39) |
T1439A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,145,772 (GRCm39) |
D1523G |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,788 (GRCm39) |
T90S |
probably benign |
Het |
|
| Other mutations in Chkb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
|
R5822:Chkb
|
UTSW |
15 |
89,313,715 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation