Incidental Mutation 'R3887:Cerk'
| ID |
309710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cerk
|
| Ensembl Gene |
ENSMUSG00000035891 |
| Gene Name |
ceramide kinase |
| Synonyms |
D330016D08Rik |
| MMRRC Submission |
040799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3887 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
86023329-86070342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86033532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 297
(I297N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044332]
[ENSMUST00000156546]
|
| AlphaFold |
Q8K4Q7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044332
AA Change: I297N
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: I297N
| 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
|
| Meta Mutation Damage Score |
0.5723 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (40/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
C |
A |
9: 65,409,530 (GRCm39) |
G469W |
probably damaging |
Het |
| Ano6 |
A |
C |
15: 95,792,330 (GRCm39) |
T65P |
possibly damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,363,019 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
A |
G |
12: 72,182,822 (GRCm39) |
I399T |
possibly damaging |
Het |
| Ceacam14 |
T |
A |
7: 17,548,063 (GRCm39) |
V51D |
probably damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,595,857 (GRCm39) |
M1K |
probably null |
Het |
| Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
| Fmc1 |
T |
C |
6: 38,516,223 (GRCm39) |
S90P |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Hk2 |
C |
T |
6: 82,711,942 (GRCm39) |
D548N |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Mapk12 |
A |
T |
15: 89,019,840 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Mdfic |
C |
T |
6: 15,799,710 (GRCm39) |
T279I |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,412,233 (GRCm39) |
V2580A |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,078,676 (GRCm39) |
I476T |
probably damaging |
Het |
| Ncapg |
G |
A |
5: 45,831,705 (GRCm39) |
V184I |
probably benign |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,887,767 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
| Reln |
T |
C |
5: 22,115,847 (GRCm39) |
I3054V |
possibly damaging |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Scube2 |
A |
T |
7: 109,442,383 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slc17a8 |
G |
T |
10: 89,427,000 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Stag3 |
A |
G |
5: 138,297,101 (GRCm39) |
I550M |
probably damaging |
Het |
| Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,556,923 (GRCm39) |
|
probably benign |
Het |
| Stxbp3 |
C |
T |
3: 108,712,549 (GRCm39) |
|
probably null |
Het |
| Syngr1 |
A |
G |
15: 80,000,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,967 (GRCm39) |
I513N |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGATTCAAGGTCACAC -3'
(R):5'- TCCAATTGCCACACTGAGC -3'
Sequencing Primer
(F):5'- GTCACACCCCCACTCTGG -3'
(R):5'- GCAGCAAGCAGACACCTCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation