Incidental Mutation 'IGL01653:Cerk'
| ID |
102874 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cerk
|
| Ensembl Gene |
ENSMUSG00000035891 |
| Gene Name |
ceramide kinase |
| Synonyms |
D330016D08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL01653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
86023329-86070342 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 86033552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 290
(Y290*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044332]
[ENSMUST00000156546]
|
| AlphaFold |
Q8K4Q7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044332
AA Change: Y290*
|
| SMART Domains |
Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: Y290*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
8 |
126 |
9e-39 |
BLAST |
|
Pfam:DAGK_cat
|
132 |
274 |
1.1e-31 |
PFAM |
|
low complexity region
|
356 |
367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150767
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156546
|
| SMART Domains |
Protein: ENSMUSP00000119472
Gene: ENSMUSG00000035891
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157732
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,500 (GRCm39) |
C149R |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,786,703 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
| Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
| Dcp1a |
T |
C |
14: 30,227,528 (GRCm39) |
S134P |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
| Fcgr3 |
A |
T |
1: 170,886,849 (GRCm39) |
L25Q |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,871,245 (GRCm39) |
I83V |
probably benign |
Het |
| Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
| Krt6b |
T |
A |
15: 101,587,549 (GRCm39) |
T182S |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
| Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
| Nhlrc2 |
C |
T |
19: 56,559,282 (GRCm39) |
R256C |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
| Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,317,770 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,119,147 (GRCm39) |
D374G |
possibly damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
Het |
|
| Other mutations in Cerk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01414:Cerk
|
APN |
15 |
86,043,343 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01732:Cerk
|
APN |
15 |
86,030,517 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03107:Cerk
|
APN |
15 |
86,027,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
resnick
|
UTSW |
15 |
86,040,869 (GRCm39) |
splice site |
probably null |
|
|
BB007:Cerk
|
UTSW |
15 |
86,028,920 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
BB017:Cerk
|
UTSW |
15 |
86,028,920 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02837:Cerk
|
UTSW |
15 |
86,028,896 (GRCm39) |
nonsense |
probably null |
|
|
R0318:Cerk
|
UTSW |
15 |
86,035,766 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0517:Cerk
|
UTSW |
15 |
86,040,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:Cerk
|
UTSW |
15 |
86,033,565 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1640:Cerk
|
UTSW |
15 |
86,033,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2049:Cerk
|
UTSW |
15 |
86,027,009 (GRCm39) |
missense |
probably benign |
|
|
R2885:Cerk
|
UTSW |
15 |
86,027,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3887:Cerk
|
UTSW |
15 |
86,033,532 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3931:Cerk
|
UTSW |
15 |
86,039,311 (GRCm39) |
nonsense |
probably null |
|
|
R4033:Cerk
|
UTSW |
15 |
86,039,228 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4234:Cerk
|
UTSW |
15 |
86,026,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4945:Cerk
|
UTSW |
15 |
86,040,802 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5742:Cerk
|
UTSW |
15 |
86,025,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Cerk
|
UTSW |
15 |
86,026,974 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6309:Cerk
|
UTSW |
15 |
86,040,869 (GRCm39) |
splice site |
probably null |
|
|
R7002:Cerk
|
UTSW |
15 |
86,040,795 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7360:Cerk
|
UTSW |
15 |
86,043,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Cerk
|
UTSW |
15 |
86,028,920 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9406:Cerk
|
UTSW |
15 |
86,028,787 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9698:Cerk
|
UTSW |
15 |
86,026,995 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9744:Cerk
|
UTSW |
15 |
86,033,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Cerk
|
UTSW |
15 |
86,030,547 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2014-01-21 |
Incidental Mutation