Incidental Mutation 'IGL02027:Cerkl'
| ID |
184235 |
| 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: 0.402)
|
| Stock # |
IGL02027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
79162835-79259332 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 79171630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121353
(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 benign
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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
A |
G |
1: 134,358,923 (GRCm39) |
T312A |
probably benign |
Het |
| Begain |
T |
G |
12: 109,000,235 (GRCm39) |
K384Q |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,099,763 (GRCm39) |
I393V |
probably benign |
Het |
| Catsperz |
A |
G |
19: 6,902,664 (GRCm39) |
V5A |
probably benign |
Het |
| Cbx1 |
T |
A |
11: 96,692,315 (GRCm39) |
F67L |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,472,307 (GRCm39) |
S117G |
probably damaging |
Het |
| Ccn3 |
T |
C |
15: 54,611,330 (GRCm39) |
V155A |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,292,405 (GRCm39) |
D3259E |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,091,600 (GRCm39) |
Y307H |
probably damaging |
Het |
| Dcaf6 |
A |
C |
1: 165,251,910 (GRCm39) |
D71E |
probably damaging |
Het |
| Dclk3 |
A |
T |
9: 111,296,911 (GRCm39) |
K152* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 27,774,629 (GRCm39) |
D68N |
probably damaging |
Het |
| Gm6576 |
A |
G |
15: 27,025,952 (GRCm39) |
|
noncoding transcript |
Het |
| Has2 |
T |
C |
15: 56,531,567 (GRCm39) |
T383A |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,684 (GRCm39) |
K203* |
probably null |
Het |
| Il36g |
A |
T |
2: 24,082,797 (GRCm39) |
I191L |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 87,994,649 (GRCm39) |
I116T |
possibly damaging |
Het |
| Itga1 |
C |
T |
13: 115,126,591 (GRCm39) |
|
probably null |
Het |
| Kif5b |
T |
C |
18: 6,209,089 (GRCm39) |
D891G |
possibly damaging |
Het |
| Krt74 |
T |
C |
15: 101,665,229 (GRCm39) |
|
noncoding transcript |
Het |
| Lama3 |
A |
G |
18: 12,649,570 (GRCm39) |
K1776E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,588,712 (GRCm39) |
S1110P |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,557,919 (GRCm39) |
K158* |
probably null |
Het |
| Lrrc9 |
T |
A |
12: 72,517,108 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
G |
6: 17,563,726 (GRCm39) |
|
probably benign |
Het |
| Mmp13 |
A |
G |
9: 7,272,955 (GRCm39) |
Y105C |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,446,638 (GRCm39) |
E1151G |
probably damaging |
Het |
| Nptx1 |
T |
C |
11: 119,435,422 (GRCm39) |
D298G |
possibly damaging |
Het |
| Odad4 |
C |
T |
11: 100,460,728 (GRCm39) |
T495M |
probably damaging |
Het |
| Pdlim1 |
T |
C |
19: 40,231,910 (GRCm39) |
N156S |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,989 (GRCm39) |
|
probably benign |
Het |
| Pex5 |
A |
G |
6: 124,375,847 (GRCm39) |
S448P |
probably benign |
Het |
| Polr3e |
G |
T |
7: 120,530,186 (GRCm39) |
R124L |
probably damaging |
Het |
| Ppp2r2c |
C |
T |
5: 37,109,816 (GRCm39) |
R392C |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,073,554 (GRCm39) |
I543T |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,991,302 (GRCm39) |
S305G |
possibly damaging |
Het |
| Repin1 |
A |
G |
6: 48,573,407 (GRCm39) |
H56R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,611,998 (GRCm39) |
L408H |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 110,060,348 (GRCm39) |
Q205H |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,379,863 (GRCm39) |
P990S |
probably benign |
Het |
| Slc33a1 |
G |
T |
3: 63,855,562 (GRCm39) |
P361Q |
probably damaging |
Het |
| Tmem98 |
T |
C |
11: 80,706,483 (GRCm39) |
|
probably benign |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,044 (GRCm39) |
T193A |
possibly damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,640 (GRCm39) |
I105K |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,387,462 (GRCm39) |
|
probably benign |
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 |
|
IGL01468:Cerkl
|
APN |
2 |
79,173,559 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01946:Cerkl
|
APN |
2 |
79,223,364 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
2014-05-07 |
Incidental Mutation