Incidental Mutation 'R5742:Cerk'
ID |
445635 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cerk
|
Ensembl Gene |
ENSMUSG00000035891 |
Gene Name |
ceramide kinase |
Synonyms |
D330016D08Rik |
MMRRC Submission |
043352-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R5742 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
86023329-86070342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86025773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 223
(E223K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044332]
[ENSMUST00000088931]
[ENSMUST00000123349]
[ENSMUST00000138134]
[ENSMUST00000156546]
|
AlphaFold |
Q8K4Q7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044332
AA Change: E528K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038203 Gene: ENSMUSG00000035891 AA Change: E528K
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 |
probably benign
Transcript: ENSMUST00000088931
|
SMART Domains |
Protein: ENSMUSP00000086321 Gene: ENSMUSG00000035900
Domain | Start | End | E-Value | Type |
coiled coil region
|
132 |
190 |
N/A |
INTRINSIC |
transmembrane domain
|
301 |
323 |
N/A |
INTRINSIC |
transmembrane domain
|
400 |
422 |
N/A |
INTRINSIC |
GRAM
|
500 |
578 |
8.41e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123349
|
SMART Domains |
Protein: ENSMUSP00000117468 Gene: ENSMUSG00000035900
Domain | Start | End | E-Value | Type |
coiled coil region
|
107 |
165 |
N/A |
INTRINSIC |
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138134
|
SMART Domains |
Protein: ENSMUSP00000120796 Gene: ENSMUSG00000035900
Domain | Start | End | E-Value | Type |
coiled coil region
|
107 |
165 |
N/A |
INTRINSIC |
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
GRAM
|
475 |
553 |
3.86e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150767
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156546
AA Change: E223K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119472 Gene: ENSMUSG00000035891 AA Change: E223K
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
62 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
T |
11: 72,056,379 (GRCm39) |
A794T |
possibly damaging |
Het |
Abca9 |
T |
G |
11: 110,051,243 (GRCm39) |
E151A |
probably damaging |
Het |
Abcb5 |
A |
G |
12: 118,881,992 (GRCm39) |
V579A |
probably damaging |
Het |
Apob |
T |
A |
12: 8,057,191 (GRCm39) |
L1858Q |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 45,897,860 (GRCm39) |
Y179* |
probably null |
Het |
Ddx60 |
A |
T |
8: 62,401,955 (GRCm39) |
Y277F |
probably benign |
Het |
Dlgap1 |
T |
G |
17: 71,025,194 (GRCm39) |
V538G |
probably benign |
Het |
Duox2 |
A |
G |
2: 122,115,402 (GRCm39) |
I1050T |
probably benign |
Het |
Dusp10 |
A |
G |
1: 183,769,853 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
T |
A |
9: 7,165,762 (GRCm39) |
I500F |
possibly damaging |
Het |
Erich3 |
T |
A |
3: 154,438,960 (GRCm39) |
C398S |
probably damaging |
Het |
Fez1 |
G |
A |
9: 36,761,743 (GRCm39) |
|
probably null |
Het |
Fkbp3 |
A |
C |
12: 65,116,812 (GRCm39) |
H41Q |
probably benign |
Het |
Fras1 |
C |
G |
5: 96,916,240 (GRCm39) |
Q3425E |
possibly damaging |
Het |
Fuca1 |
T |
C |
4: 135,650,286 (GRCm39) |
V119A |
probably damaging |
Het |
Grhl2 |
A |
G |
15: 37,328,616 (GRCm39) |
K414R |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 52,002,335 (GRCm39) |
C200* |
probably null |
Het |
Hmgcs2 |
A |
G |
3: 98,204,832 (GRCm39) |
N330S |
probably benign |
Het |
Hspd1 |
A |
G |
1: 55,123,766 (GRCm39) |
V118A |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,056,112 (GRCm39) |
T511A |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,718,503 (GRCm39) |
S1061P |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,899,968 (GRCm39) |
V79A |
probably benign |
Het |
Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
Klc4 |
C |
T |
17: 46,953,197 (GRCm39) |
R111Q |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,384,216 (GRCm39) |
D3641G |
probably damaging |
Het |
Map2k1 |
A |
T |
9: 64,101,053 (GRCm39) |
D208E |
probably damaging |
Het |
Masp1 |
T |
A |
16: 23,273,675 (GRCm39) |
M588L |
probably benign |
Het |
Mgl2 |
T |
A |
11: 70,027,510 (GRCm39) |
N239K |
probably benign |
Het |
Mki67 |
G |
A |
7: 135,306,102 (GRCm39) |
T625M |
probably benign |
Het |
Ndufb5 |
T |
C |
3: 32,801,930 (GRCm39) |
Y112H |
probably damaging |
Het |
Npr3 |
A |
G |
15: 11,883,494 (GRCm39) |
S312P |
probably damaging |
Het |
Nuf2 |
A |
T |
1: 169,344,191 (GRCm39) |
I125N |
probably damaging |
Het |
Obox1 |
G |
A |
7: 15,289,430 (GRCm39) |
G73D |
possibly damaging |
Het |
Odad4 |
G |
A |
11: 100,436,699 (GRCm39) |
G25R |
possibly damaging |
Het |
Or51a43 |
G |
T |
7: 103,717,412 (GRCm39) |
H275Q |
probably damaging |
Het |
Or8g19 |
T |
A |
9: 39,055,974 (GRCm39) |
F193I |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,607,820 (GRCm39) |
S351P |
probably damaging |
Het |
Phc2 |
G |
T |
4: 128,639,661 (GRCm39) |
R121L |
probably damaging |
Het |
Pla2g2a |
A |
G |
4: 138,560,653 (GRCm39) |
K87E |
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,905,408 (GRCm39) |
S1101T |
probably damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,144,741 (GRCm39) |
I786T |
probably damaging |
Het |
Prxl2a |
T |
C |
14: 40,724,460 (GRCm39) |
E57G |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 52,018,234 (GRCm39) |
|
probably null |
Het |
Styxl2 |
A |
T |
1: 165,927,023 (GRCm39) |
V863E |
probably benign |
Het |
Trnt1 |
T |
A |
6: 106,755,878 (GRCm39) |
L311* |
probably null |
Het |
Vmn1r47 |
T |
A |
6: 89,999,500 (GRCm39) |
L211M |
probably damaging |
Het |
Zfp12 |
A |
G |
5: 143,230,945 (GRCm39) |
E424G |
probably damaging |
Het |
Zranb2 |
T |
A |
3: 157,246,340 (GRCm39) |
Y17* |
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 |
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 |
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'- TGCCATTTGCTGAGAAGAAGTG -3'
(R):5'- TGCGGTTGTAGAGCACATTCG -3'
Sequencing Primer
(F):5'- ACAGAACTGTTGACAAAGCTGTC -3'
(R):5'- TTGTAGAGCACATTCGGAGACCTC -3'
|
Posted On |
2016-11-21 |