Incidental Mutation 'IGL00422:Cln8'
| ID |
6240 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cln8
|
| Ensembl Gene |
ENSMUSG00000026317 |
| Gene Name |
CLN8 transmembrane ER and ERGIC protein |
| Synonyms |
Tlcd6, ceroid-lipofuscinosis, neuronal 8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
IGL00422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
14931335-14951720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 14946637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 217
(C217Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027554]
[ENSMUST00000123990]
[ENSMUST00000128839]
[ENSMUST00000132001]
[ENSMUST00000133578]
|
| AlphaFold |
Q9QUK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027554
AA Change: C217Y
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000027554
Gene: ENSMUSG00000026317
AA Change: C217Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
TLC
|
62 |
262 |
3.4e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123990
|
| SMART Domains |
Protein: ENSMUSP00000119031
Gene: ENSMUSG00000026317
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Blast:TLC
|
62 |
124 |
6e-38 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128839
|
| SMART Domains |
Protein: ENSMUSP00000121618
Gene: ENSMUSG00000026317
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133578
|
| 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 encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit late-onset progressive motor neuron degeneration and retinal photoreceptor degeneration. Mutants accumulate proteolipid in neuronal cytoplasm, have hindlimb weakness and ataxia, and die at 9-14 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
| Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,033,045 (GRCm39) |
F328V |
possibly damaging |
Het |
| Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,505,771 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,367,894 (GRCm39) |
D248G |
probably damaging |
Het |
| Mat2b |
C |
A |
11: 40,578,565 (GRCm39) |
G41C |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,968,332 (GRCm39) |
I369V |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,766,033 (GRCm39) |
I365K |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,031 (GRCm39) |
S366T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,106,743 (GRCm39) |
C15G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 75,087,811 (GRCm39) |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
| Zcchc7 |
A |
T |
4: 44,931,318 (GRCm39) |
H490L |
possibly damaging |
Het |
|
| Other mutations in Cln8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Cln8
|
APN |
8 |
14,944,689 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL02340:Cln8
|
APN |
8 |
14,945,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Cln8
|
APN |
8 |
14,944,679 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03213:Cln8
|
APN |
8 |
14,944,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Cln8
|
UTSW |
8 |
14,946,769 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4184:Cln8
|
UTSW |
8 |
14,945,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4634:Cln8
|
UTSW |
8 |
14,944,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4925:Cln8
|
UTSW |
8 |
14,945,004 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5930:Cln8
|
UTSW |
8 |
14,946,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Cln8
|
UTSW |
8 |
14,946,544 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7567:Cln8
|
UTSW |
8 |
14,945,057 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8077:Cln8
|
UTSW |
8 |
14,944,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation