Incidental Mutation 'R3931:Cerk'
ID |
359691 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cerk
|
Ensembl Gene |
ENSMUSG00000035891 |
Gene Name |
ceramide kinase |
Synonyms |
D330016D08Rik |
MMRRC Submission |
040918-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R3931 (G1)
|
Quality Score |
28 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
86023329-86070342 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 86039311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 193
(C193*)
|
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: C193*
|
SMART Domains |
Protein: ENSMUSP00000038203 Gene: ENSMUSG00000035891 AA Change: C193*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
100% (30/30) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
A |
C |
6: 92,811,420 (GRCm39) |
|
probably benign |
Het |
Cbarp |
A |
G |
10: 79,971,348 (GRCm39) |
L159P |
probably damaging |
Het |
Ccnd2 |
A |
G |
6: 127,107,422 (GRCm39) |
I249T |
probably damaging |
Het |
Chrna2 |
A |
G |
14: 66,387,216 (GRCm39) |
E454G |
probably benign |
Het |
Clnk |
T |
C |
5: 38,925,412 (GRCm39) |
T130A |
probably benign |
Het |
Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,095,499 (GRCm39) |
V942E |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
Dnai1 |
G |
A |
4: 41,604,229 (GRCm39) |
C212Y |
probably damaging |
Het |
Dpep1 |
A |
G |
8: 123,925,518 (GRCm39) |
D57G |
possibly damaging |
Het |
Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
Grm1 |
C |
T |
10: 10,595,622 (GRCm39) |
A669T |
probably benign |
Het |
Hsd3b3 |
C |
T |
3: 98,649,492 (GRCm39) |
G277D |
probably damaging |
Het |
Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lipo4 |
C |
T |
19: 33,480,619 (GRCm39) |
V250I |
probably benign |
Het |
Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
Map3k9 |
A |
G |
12: 81,819,691 (GRCm39) |
F188L |
probably damaging |
Het |
Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,003,461 (GRCm39) |
K185E |
probably benign |
Het |
Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
Ptpn12 |
A |
G |
5: 21,206,321 (GRCm39) |
I324T |
probably benign |
Het |
Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,311,655 (GRCm39) |
V1811E |
probably damaging |
Het |
Trpc4 |
A |
G |
3: 54,225,516 (GRCm39) |
D871G |
probably damaging |
Het |
Upf2 |
A |
G |
2: 6,051,821 (GRCm39) |
E1161G |
unknown |
Het |
Zp2 |
T |
C |
7: 119,731,580 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTAACAACTGCAGAGGGAG -3'
(R):5'- GCCAGGGTTTGTGAAGAATCCC -3'
Sequencing Primer
(F):5'- GAGGAAGCCAGCTGTGTACC -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'
|
Posted On |
2015-11-20 |