Incidental Mutation 'R0918:Cerkl'
| ID |
81524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cerkl
|
| Ensembl Gene |
ENSMUSG00000075256 |
| Gene Name |
ceramide kinase-like |
| Synonyms |
Rp26 |
| MMRRC Submission |
039068-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
R0918 (G1)
|
| Quality Score |
142 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
79162835-79259332 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79163973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 449
(I449T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
[ENSMUST00000143974]
[ENSMUST00000156731]
|
| AlphaFold |
A2AQH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099972
|
| SMART Domains |
Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Int_alpha
|
48 |
108 |
5.14e-7 |
SMART |
|
Int_alpha
|
191 |
241 |
3.45e1 |
SMART |
|
Int_alpha
|
247 |
300 |
1.89e-5 |
SMART |
|
Int_alpha
|
302 |
358 |
2.25e-12 |
SMART |
|
Int_alpha
|
364 |
419 |
1.45e-15 |
SMART |
|
Int_alpha
|
426 |
483 |
4.52e-3 |
SMART |
|
SCOP:d1m1xa2
|
627 |
770 |
1e-35 |
SMART |
|
Blast:Int_alpha
|
639 |
676 |
9e-16 |
BLAST |
|
SCOP:d1m1xa3
|
773 |
948 |
7e-42 |
SMART |
|
transmembrane domain
|
978 |
1000 |
N/A |
INTRINSIC |
|
PDB:4HKC|B
|
1003 |
1032 |
1e-13 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000099974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143602
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143974
AA Change: I449T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: I449T
| 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: ENSMUST00000147402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156731
AA Change: I31T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153602
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.2%
- 20x: 90.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
G |
3: 59,946,953 (GRCm39) |
I217R |
probably damaging |
Het |
| Acp1 |
G |
T |
12: 30,955,126 (GRCm39) |
S20* |
probably null |
Het |
| Adcy3 |
A |
G |
12: 4,248,360 (GRCm39) |
D474G |
probably benign |
Het |
| Apob |
T |
C |
12: 8,033,941 (GRCm39) |
I217T |
probably benign |
Het |
| Cdh12 |
G |
A |
15: 21,492,685 (GRCm39) |
V235I |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,062 (GRCm39) |
T197S |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,674,998 (GRCm39) |
Y84H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,842,619 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
A |
T |
17: 88,305,031 (GRCm39) |
N613K |
probably damaging |
Het |
| Fes |
G |
T |
7: 80,030,953 (GRCm39) |
T536K |
probably damaging |
Het |
| Gm13941 |
G |
C |
2: 110,930,945 (GRCm39) |
T76R |
unknown |
Het |
| Lrp1 |
T |
C |
10: 127,429,834 (GRCm39) |
E412G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,412,287 (GRCm39) |
I285V |
probably damaging |
Het |
| Map3k13 |
G |
A |
16: 21,744,990 (GRCm39) |
D850N |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,103,408 (GRCm39) |
V34M |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,171,928 (GRCm39) |
W43R |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,168,239 (GRCm39) |
T984M |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,062,403 (GRCm39) |
T278A |
probably benign |
Het |
| Or5a3 |
A |
G |
19: 12,400,599 (GRCm39) |
K309E |
probably benign |
Het |
| Or5ak4 |
A |
G |
2: 85,162,276 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,418 (GRCm39) |
I209T |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,067 (GRCm39) |
F255L |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,103,124 (GRCm39) |
D1697G |
possibly damaging |
Het |
| Pla2g12b |
A |
G |
10: 59,257,306 (GRCm39) |
D163G |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,756,267 (GRCm39) |
T359M |
possibly damaging |
Het |
| Sass6 |
G |
A |
3: 116,397,172 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,153,651 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
A |
G |
15: 96,507,743 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,391,559 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,547,511 (GRCm39) |
P265S |
probably benign |
Het |
| Snrpa1 |
A |
G |
7: 65,720,363 (GRCm39) |
T189A |
probably benign |
Het |
| Snx11 |
G |
A |
11: 96,660,104 (GRCm39) |
P195L |
possibly damaging |
Het |
| Spen |
T |
G |
4: 141,212,875 (GRCm39) |
I584L |
unknown |
Het |
| Sult2a5 |
T |
A |
7: 13,359,334 (GRCm39) |
H103Q |
probably benign |
Het |
| Syce1 |
T |
C |
7: 140,360,436 (GRCm39) |
K50E |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,835,477 (GRCm39) |
S1018P |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTAATGTGAACCTCTGATGCAGC -3'
(R):5'- CCTGGGAAAACCATGTTTGATTGCC -3'
Sequencing Primer
(F):5'- GATGCAGCTTCCATTAAGTCAC -3'
(R):5'- ATTCCAAGGGTGAAACTTGTGC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation