Incidental Mutation 'IGL01414:Cerk'
| ID |
80182 |
| 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 # |
IGL01414
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
86023329-86070342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86043343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 153
(T153S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044332]
|
| AlphaFold |
Q8K4Q7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044332
AA Change: T153S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: T153S
| 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
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
C |
T |
4: 156,279,696 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
T |
A |
10: 79,862,938 (GRCm39) |
S705T |
probably damaging |
Het |
| B4galt4 |
A |
G |
16: 38,578,153 (GRCm39) |
E200G |
probably damaging |
Het |
| Cdh12 |
A |
T |
15: 21,492,775 (GRCm39) |
N265Y |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,181,878 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,511,467 (GRCm39) |
|
probably benign |
Het |
| Gm26920 |
T |
G |
7: 29,767,503 (GRCm39) |
|
probably benign |
Het |
| Ighv1-66 |
T |
C |
12: 115,556,929 (GRCm39) |
Y51C |
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,744,253 (GRCm39) |
D1503G |
probably benign |
Het |
| Lhpp |
A |
G |
7: 132,244,249 (GRCm39) |
K189E |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,233,298 (GRCm39) |
T606A |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,545,681 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
G |
T |
1: 126,456,450 (GRCm39) |
Q38K |
probably damaging |
Het |
| Nlgn3 |
A |
G |
X: 100,345,866 (GRCm39) |
I93V |
probably benign |
Het |
| Nxpe2 |
A |
G |
9: 48,231,923 (GRCm39) |
F345L |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,549 (GRCm39) |
N339S |
probably damaging |
Het |
| Rbbp7 |
T |
A |
X: 161,557,577 (GRCm39) |
I322N |
probably damaging |
Het |
| Rigi |
C |
A |
4: 40,222,176 (GRCm39) |
V368F |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,837 (GRCm39) |
F855L |
probably damaging |
Het |
| Scin |
A |
T |
12: 40,174,698 (GRCm39) |
H128Q |
probably damaging |
Het |
| Sema4g |
A |
G |
19: 44,986,435 (GRCm39) |
Y337C |
probably damaging |
Het |
| Stx6 |
C |
T |
1: 155,077,691 (GRCm39) |
R233C |
possibly damaging |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Trem3 |
G |
T |
17: 48,556,843 (GRCm39) |
V105L |
probably benign |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,942 (GRCm39) |
M194L |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,658,704 (GRCm39) |
D402E |
probably benign |
Het |
|
| Other mutations in Cerk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01653:Cerk
|
APN |
15 |
86,033,552 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2013-11-05 |
Incidental Mutation