Incidental Mutation 'IGL02630:Chka'
| ID |
301262 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chka
|
| Ensembl Gene |
ENSMUSG00000024843 |
| Gene Name |
choline kinase alpha |
| Synonyms |
Chk, ChoK, EtnK-alpha, choline/ethanolamine kinase alpha, CK/EK-alpha |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02630
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
3901773-3944369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3942112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 355
(H355Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001801]
[ENSMUST00000025760]
[ENSMUST00000072055]
[ENSMUST00000122885]
[ENSMUST00000128694]
[ENSMUST00000153343]
[ENSMUST00000135070]
[ENSMUST00000145791]
[ENSMUST00000126070]
|
| AlphaFold |
O54804 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001801
|
| SMART Domains |
Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025760
AA Change: H373Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025760
Gene: ENSMUSG00000024843
AA Change: H373Q
| 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 |
possibly damaging
Transcript: ENSMUST00000072055
AA Change: H355Q
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071933
Gene: ENSMUSG00000024843
AA Change: H355Q
| 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 |
probably benign
Transcript: ENSMUST00000122885
|
| SMART Domains |
Protein: ENSMUSP00000114768
Gene: ENSMUSG00000001750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
1 |
91 |
2.9e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125013
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125640
|
| SMART Domains |
Protein: ENSMUSP00000119493
Gene: ENSMUSG00000024843
| 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: ENSMUST00000162688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131327
|
| 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: ENSMUST00000153343
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135070
|
| SMART Domains |
Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
70 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145791
|
| SMART Domains |
Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126070
|
| SMART Domains |
Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
829 |
1.2e-277 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,441 (GRCm39) |
V3575E |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,537,140 (GRCm39) |
|
probably benign |
Het |
| Arhgap23 |
A |
G |
11: 97,345,123 (GRCm39) |
T631A |
probably benign |
Het |
| Ctsj |
C |
T |
13: 61,149,214 (GRCm39) |
A277T |
probably damaging |
Het |
| Ddx49 |
T |
C |
8: 70,753,668 (GRCm39) |
D67G |
probably damaging |
Het |
| Dennd4b |
T |
C |
3: 90,180,284 (GRCm39) |
S716P |
probably benign |
Het |
| Enpp5 |
G |
T |
17: 44,393,766 (GRCm39) |
D321Y |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,205,253 (GRCm39) |
E17G |
probably benign |
Het |
| Fam161b |
G |
A |
12: 84,400,688 (GRCm39) |
P428L |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,872,586 (GRCm39) |
L256S |
probably damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,830,525 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
C |
T |
15: 77,831,362 (GRCm39) |
V484I |
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
| H3c1 |
C |
T |
13: 23,946,231 (GRCm39) |
V36M |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,795,456 (GRCm39) |
N271S |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,496 (GRCm39) |
D58G |
possibly damaging |
Het |
| Igkv4-80 |
A |
T |
6: 68,993,680 (GRCm39) |
Y70* |
probably null |
Het |
| Ivns1abp |
G |
A |
1: 151,235,386 (GRCm39) |
R218H |
probably damaging |
Het |
| Kng1 |
A |
T |
16: 22,898,595 (GRCm39) |
|
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
| Lgals12 |
T |
C |
19: 7,578,607 (GRCm39) |
|
probably benign |
Het |
| Lpar4 |
T |
A |
X: 105,974,817 (GRCm39) |
F334I |
probably benign |
Het |
| Muc5b |
G |
A |
7: 141,416,968 (GRCm39) |
G3305S |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,555,291 (GRCm39) |
D864G |
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,145,299 (GRCm39) |
E22G |
probably damaging |
Het |
| Nt5c2 |
T |
A |
19: 46,912,749 (GRCm39) |
M69L |
probably benign |
Het |
| Or52ab4 |
A |
C |
7: 102,987,636 (GRCm39) |
Y125S |
probably damaging |
Het |
| Or8k22 |
T |
C |
2: 86,163,212 (GRCm39) |
I163V |
probably benign |
Het |
| Pde12 |
A |
T |
14: 26,387,552 (GRCm39) |
H455Q |
probably damaging |
Het |
| Pdia6 |
A |
G |
12: 17,324,422 (GRCm39) |
H91R |
probably benign |
Het |
| Pdk4 |
A |
T |
6: 5,491,671 (GRCm39) |
I179K |
possibly damaging |
Het |
| Prl2c1 |
T |
C |
13: 28,041,480 (GRCm39) |
|
probably benign |
Het |
| Rasgrf2 |
C |
T |
13: 92,267,900 (GRCm39) |
E35K |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
| Secisbp2 |
C |
A |
13: 51,832,942 (GRCm39) |
T608K |
possibly damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,668,836 (GRCm39) |
Y532C |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,143,586 (GRCm39) |
V750A |
possibly damaging |
Het |
| Spaca6 |
T |
A |
17: 18,051,351 (GRCm39) |
L9Q |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,786,080 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,043,712 (GRCm39) |
D131E |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,659,404 (GRCm39) |
D176E |
probably damaging |
Het |
| Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,202,143 (GRCm39) |
V1590A |
possibly damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,758,994 (GRCm39) |
V289A |
possibly damaging |
Het |
| Ube2dnl1 |
T |
A |
X: 113,815,483 (GRCm39) |
C119* |
probably null |
Het |
| Vmn1r191 |
T |
A |
13: 22,363,431 (GRCm39) |
I108F |
possibly damaging |
Het |
| Zfp710 |
T |
A |
7: 79,731,789 (GRCm39) |
I322N |
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 |
|
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 |
|
R3822:Chka
|
UTSW |
19 |
3,932,038 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation