Incidental Mutation 'R3822:Chka'
ID |
473975 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chka
|
Ensembl Gene |
ENSMUSG00000024843 |
Gene Name |
choline kinase alpha |
Synonyms |
Chk, ChoK, EtnK-alpha, choline/ethanolamine kinase alpha, CK/EK-alpha |
MMRRC Submission |
040884-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3822 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
3901773-3944369 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 3932038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025760]
[ENSMUST00000072055]
[ENSMUST00000153343]
[ENSMUST00000128694]
|
AlphaFold |
O54804 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025760
|
SMART Domains |
Protein: ENSMUSP00000025760 Gene: ENSMUSG00000024843
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000124219
|
Predicted Effect |
unknown
Transcript: ENSMUST00000125640
AA Change: Y64C
|
SMART Domains |
Protein: ENSMUSP00000119493 Gene: ENSMUSG00000024843 AA Change: Y64C
Domain | Start | End | E-Value | Type |
Pfam:Choline_kinase
|
40 |
230 |
2.2e-49 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127544
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146463
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148325
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153343
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128694
|
SMART Domains |
Protein: ENSMUSP00000119919 Gene: ENSMUSG00000024843
Domain | Start | End | E-Value | Type |
PDB:4DA5|B
|
1 |
150 |
2e-60 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139655
|
SMART Domains |
Protein: ENSMUSP00000116427 Gene: ENSMUSG00000024843
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
PDB:4DA5|B
|
17 |
160 |
3e-68 |
PDB |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (34/34) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
Cth |
A |
G |
3: 157,624,136 (GRCm39) |
F127S |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,184,070 (GRCm39) |
|
probably benign |
Het |
Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
Gpr89 |
A |
G |
3: 96,800,260 (GRCm39) |
S113P |
probably benign |
Het |
Herpud2 |
G |
A |
9: 25,036,220 (GRCm39) |
Q147* |
probably null |
Het |
Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
Hlcs |
T |
C |
16: 94,068,840 (GRCm39) |
N274D |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
Man1a2 |
A |
G |
3: 100,539,913 (GRCm39) |
I176T |
possibly damaging |
Het |
Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
Psmb7 |
A |
T |
2: 38,503,440 (GRCm39) |
|
probably benign |
Het |
Rin2 |
C |
T |
2: 145,664,550 (GRCm39) |
T60M |
probably benign |
Het |
Slc28a3 |
A |
G |
13: 58,706,092 (GRCm39) |
V639A |
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,867,451 (GRCm39) |
|
probably benign |
Het |
Ugt1a6a |
T |
A |
1: 88,066,251 (GRCm39) |
V19E |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
Wdr4 |
T |
G |
17: 31,731,195 (GRCm39) |
Q55P |
probably damaging |
Het |
Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,657,769 (GRCm39) |
L714Q |
probably damaging |
Het |
|
Other mutations in Chka |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00937:Chka
|
APN |
19 |
3,942,189 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02630:Chka
|
APN |
19 |
3,942,112 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1432:Chka
|
UTSW |
19 |
3,924,809 (GRCm39) |
splice site |
probably benign |
|
R1840:Chka
|
UTSW |
19 |
3,936,460 (GRCm39) |
missense |
probably benign |
0.00 |
R1898:Chka
|
UTSW |
19 |
3,942,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R4272:Chka
|
UTSW |
19 |
3,925,737 (GRCm39) |
splice site |
probably benign |
|
R4329:Chka
|
UTSW |
19 |
3,925,803 (GRCm39) |
splice site |
probably benign |
|
R4573:Chka
|
UTSW |
19 |
3,935,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R4720:Chka
|
UTSW |
19 |
3,936,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R4923:Chka
|
UTSW |
19 |
3,942,105 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5783:Chka
|
UTSW |
19 |
3,914,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R5936:Chka
|
UTSW |
19 |
3,934,580 (GRCm39) |
missense |
probably benign |
0.25 |
R5979:Chka
|
UTSW |
19 |
3,934,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R7429:Chka
|
UTSW |
19 |
3,942,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R7430:Chka
|
UTSW |
19 |
3,942,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R8189:Chka
|
UTSW |
19 |
3,925,759 (GRCm39) |
nonsense |
probably null |
|
R8213:Chka
|
UTSW |
19 |
3,935,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R8397:Chka
|
UTSW |
19 |
3,902,414 (GRCm39) |
critical splice donor site |
probably null |
|
R8440:Chka
|
UTSW |
19 |
3,943,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R9289:Chka
|
UTSW |
19 |
3,935,953 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Predicted Primers |
|
Posted On |
2017-04-14 |