Incidental Mutation 'IGL01468:Cerkl'
| ID |
88181 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cerkl
|
| Ensembl Gene |
ENSMUSG00000075256 |
| Gene Name |
ceramide kinase-like |
| Synonyms |
Rp26 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
IGL01468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
79162835-79259332 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 79173559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143974]
[ENSMUST00000156731]
|
| AlphaFold |
A2AQH1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000099974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143602
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143974
|
| SMART Domains |
Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
80 |
N/A |
INTRINSIC |
|
Pfam:DAGK_cat
|
152 |
293 |
2.6e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153602
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156830
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit retinal apoptosis and decreased amplitudes and increased implicit time of oscillatory potentials. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,839,711 (GRCm39) |
V781I |
probably benign |
Het |
| Aldh5a1 |
G |
T |
13: 25,095,536 (GRCm39) |
|
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,057,576 (GRCm39) |
T435A |
probably benign |
Het |
| Atrnl1 |
G |
A |
19: 57,688,144 (GRCm39) |
V870I |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,248,305 (GRCm39) |
L13* |
probably null |
Het |
| Cr2 |
G |
A |
1: 194,850,843 (GRCm39) |
P208S |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,612 (GRCm39) |
D1075G |
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,563,039 (GRCm39) |
K863* |
probably null |
Het |
| Dnaaf5 |
C |
A |
5: 139,137,235 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
T |
A |
3: 84,879,806 (GRCm39) |
I336K |
probably benign |
Het |
| Ftcd |
A |
G |
10: 76,420,421 (GRCm39) |
D385G |
probably benign |
Het |
| Gm10153 |
T |
C |
7: 141,743,778 (GRCm39) |
S117G |
unknown |
Het |
| Gzmb |
T |
C |
14: 56,497,772 (GRCm39) |
Y156C |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,831,880 (GRCm39) |
D83E |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,467,191 (GRCm39) |
V364A |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,503,498 (GRCm39) |
|
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,819,696 (GRCm39) |
Q24L |
probably damaging |
Het |
| Pgm1 |
A |
T |
4: 99,819,367 (GRCm39) |
N197I |
possibly damaging |
Het |
| Prss39 |
C |
T |
1: 34,538,481 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,201 (GRCm39) |
V236A |
probably damaging |
Het |
| Slc17a8 |
C |
T |
10: 89,427,883 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
A |
G |
2: 145,455,500 (GRCm39) |
Y463C |
probably benign |
Het |
| Slc4a7 |
A |
G |
14: 14,737,480 (GRCm38) |
E149G |
probably damaging |
Het |
| Synj1 |
G |
A |
16: 90,807,060 (GRCm39) |
|
probably benign |
Het |
| Tas2r138 |
T |
A |
6: 40,589,410 (GRCm39) |
M279L |
probably benign |
Het |
| Terb1 |
A |
G |
8: 105,208,799 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Trmt5 |
C |
T |
12: 73,327,878 (GRCm39) |
V442I |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,840,071 (GRCm39) |
I383V |
possibly damaging |
Het |
| Uchl4 |
A |
G |
9: 64,142,998 (GRCm39) |
T160A |
possibly damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,182,382 (GRCm39) |
M439K |
possibly damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,892,868 (GRCm39) |
L757Q |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,904,475 (GRCm39) |
V1468A |
probably benign |
Het |
| Zxdc |
A |
T |
6: 90,350,761 (GRCm39) |
E404V |
probably damaging |
Het |
|
| Other mutations in Cerkl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Cerkl
|
APN |
2 |
79,171,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01330:Cerkl
|
APN |
2 |
79,199,125 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01946:Cerkl
|
APN |
2 |
79,223,364 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02027:Cerkl
|
APN |
2 |
79,171,630 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02809:Cerkl
|
APN |
2 |
79,172,546 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL03293:Cerkl
|
APN |
2 |
79,172,719 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0076:Cerkl
|
UTSW |
2 |
79,173,633 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0453:Cerkl
|
UTSW |
2 |
79,172,795 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0918:Cerkl
|
UTSW |
2 |
79,163,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1533:Cerkl
|
UTSW |
2 |
79,171,701 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4003:Cerkl
|
UTSW |
2 |
79,259,138 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5078:Cerkl
|
UTSW |
2 |
79,223,352 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5093:Cerkl
|
UTSW |
2 |
79,163,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Cerkl
|
UTSW |
2 |
79,171,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Cerkl
|
UTSW |
2 |
79,223,328 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6249:Cerkl
|
UTSW |
2 |
79,199,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Cerkl
|
UTSW |
2 |
79,171,722 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7201:Cerkl
|
UTSW |
2 |
79,163,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7326:Cerkl
|
UTSW |
2 |
79,162,949 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7343:Cerkl
|
UTSW |
2 |
79,259,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7833:Cerkl
|
UTSW |
2 |
79,171,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7874:Cerkl
|
UTSW |
2 |
79,168,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Cerkl
|
UTSW |
2 |
79,163,901 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8333:Cerkl
|
UTSW |
2 |
79,168,922 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8470:Cerkl
|
UTSW |
2 |
79,172,751 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9223:Cerkl
|
UTSW |
2 |
79,171,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9659:Cerkl
|
UTSW |
2 |
79,223,322 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1176:Cerkl
|
UTSW |
2 |
79,199,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-11-18 |
Incidental Mutation