Incidental Mutation 'R6309:Cerk'
| ID |
526483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cerk
|
| Ensembl Gene |
ENSMUSG00000035891 |
| Gene Name |
ceramide kinase |
| Synonyms |
D330016D08Rik |
| MMRRC Submission |
044413-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6309 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
86023329-86070342 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 86040869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044332]
[ENSMUST00000156546]
|
| AlphaFold |
Q8K4Q7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044332
|
| SMART Domains |
Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
| 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 null
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
92% (35/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,117,259 (GRCm39) |
|
probably null |
Het |
| Ak4 |
T |
C |
4: 101,320,859 (GRCm39) |
Y223H |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,948,576 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
T |
G |
19: 37,022,089 (GRCm39) |
I569L |
possibly damaging |
Het |
| Dis3 |
A |
T |
14: 99,323,358 (GRCm39) |
N569K |
probably benign |
Het |
| Erich5 |
T |
C |
15: 34,471,602 (GRCm39) |
L277P |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,690,804 (GRCm39) |
S256P |
probably damaging |
Het |
| Glis3 |
A |
G |
19: 28,294,761 (GRCm39) |
V679A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm8212 |
A |
G |
14: 44,438,636 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,710,025 (GRCm39) |
T1174S |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,675,446 (GRCm39) |
Y1045C |
probably damaging |
Het |
| Hsf2 |
C |
T |
10: 57,362,676 (GRCm39) |
|
probably benign |
Het |
| Ighv1-4 |
G |
T |
12: 114,451,015 (GRCm39) |
A31E |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,765,279 (GRCm39) |
K151E |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,546 (GRCm39) |
M685K |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,109,429 (GRCm39) |
D209E |
probably damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,328 (GRCm39) |
S508P |
probably damaging |
Het |
| Lrrn3 |
G |
A |
12: 41,503,205 (GRCm39) |
R371C |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,277,878 (GRCm39) |
T755A |
probably benign |
Het |
| Odad2 |
A |
G |
18: 7,214,617 (GRCm39) |
V728A |
probably benign |
Het |
| Or10al7 |
T |
A |
17: 38,366,043 (GRCm39) |
Y138F |
probably damaging |
Het |
| Or2n1 |
T |
C |
17: 38,486,410 (GRCm39) |
V145A |
probably benign |
Het |
| Phf24 |
A |
G |
4: 42,933,960 (GRCm39) |
D14G |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,441,443 (GRCm39) |
C314* |
probably null |
Het |
| Rnf187 |
A |
T |
11: 58,827,986 (GRCm39) |
S155T |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Scn10a |
A |
G |
9: 119,453,181 (GRCm39) |
I1237T |
possibly damaging |
Het |
| Sec16a |
T |
C |
2: 26,328,583 (GRCm39) |
N1144S |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,081 (GRCm39) |
V58A |
probably damaging |
Het |
| Slc37a3 |
T |
C |
6: 39,334,394 (GRCm39) |
*84W |
probably null |
Het |
| Trpm2 |
T |
A |
10: 77,774,202 (GRCm39) |
I466F |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,660 (GRCm39) |
I288F |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,124 (GRCm39) |
T271A |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,120,397 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
A |
G |
5: 149,504,268 (GRCm39) |
|
probably null |
Het |
| Zfp960 |
T |
C |
17: 17,308,639 (GRCm39) |
I451T |
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 |
|
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 |
|
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'- TGTCCTACGACATGGAGGGAAG -3'
(R):5'- AGAATGGATCCTGAGATGGCC -3'
Sequencing Primer
(F):5'- GGCAGAAGACATGCCCACAG -3'
(R):5'- AGATGGCCGTTTCTCACAGAG -3'
|
| Posted On |
2018-07-16 |
Incidental Mutation