Incidental Mutation 'IGL01601:Cln6'
| ID |
91778 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cln6
|
| Ensembl Gene |
ENSMUSG00000032245 |
| Gene Name |
ceroid-lipofuscinosis, neuronal 6 |
| Synonyms |
D9Bwg1455e, 1810065L06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01601
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
62746067-62759288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62754252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 98
(I98N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034776]
[ENSMUST00000141821]
|
| AlphaFold |
Q3U466 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034776
AA Change: I98N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034776
Gene: ENSMUSG00000032245
AA Change: I98N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN6
|
27 |
306 |
1.3e-167 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124984
|
| SMART Domains |
Protein: ENSMUSP00000115675
Gene: ENSMUSG00000032245
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN6
|
1 |
64 |
1.3e-34 |
PFAM |
|
Pfam:CLN6
|
68 |
189 |
2.7e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132250
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139570
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141821
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156423
|
| 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 is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants have progressive retinal atrophy, limb paralysis, and seizures that lead to early death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
C |
17: 43,020,940 (GRCm39) |
D628G |
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,568,823 (GRCm39) |
I708N |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,840,555 (GRCm39) |
F985I |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,798,685 (GRCm39) |
W1315R |
probably damaging |
Het |
| Arhgef33 |
C |
A |
17: 80,655,112 (GRCm39) |
Q106K |
probably damaging |
Het |
| Atad5 |
G |
A |
11: 79,986,343 (GRCm39) |
G477S |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,411 (GRCm39) |
I451K |
probably benign |
Het |
| Commd1 |
T |
C |
11: 22,849,981 (GRCm39) |
E234G |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,189,528 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
T |
C |
12: 95,746,369 (GRCm39) |
S236P |
probably damaging |
Het |
| Garnl3 |
G |
A |
2: 32,887,701 (GRCm39) |
Q770* |
probably null |
Het |
| Gpr22 |
C |
T |
12: 31,760,044 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,503,164 (GRCm39) |
D3880E |
probably benign |
Het |
| Lgals8 |
T |
C |
13: 12,471,219 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,101 (GRCm39) |
V214A |
probably benign |
Het |
| Nat8l |
T |
C |
5: 34,155,809 (GRCm39) |
L155P |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,691,154 (GRCm39) |
S359G |
probably benign |
Het |
| Pex6 |
A |
C |
17: 47,034,650 (GRCm39) |
N785T |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,023,823 (GRCm39) |
C104S |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,000,437 (GRCm39) |
H842Q |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,021 (GRCm39) |
S101T |
probably damaging |
Het |
| Rnf103 |
T |
G |
6: 71,486,167 (GRCm39) |
V266G |
probably damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,296,544 (GRCm39) |
D100G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,872 (GRCm39) |
G1822E |
probably damaging |
Het |
| Tbl3 |
T |
A |
17: 24,921,291 (GRCm39) |
D500V |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,223,047 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,901,806 (GRCm39) |
R524W |
probably benign |
Het |
| Wnk2 |
G |
T |
13: 49,230,038 (GRCm39) |
P829T |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,582,068 (GRCm39) |
N84S |
possibly damaging |
Het |
|
| Other mutations in Cln6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01586:Cln6
|
APN |
9 |
62,751,900 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02351:Cln6
|
APN |
9 |
62,754,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02358:Cln6
|
APN |
9 |
62,754,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
boost
|
UTSW |
9 |
62,754,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1113:Cln6
|
UTSW |
9 |
62,758,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1308:Cln6
|
UTSW |
9 |
62,758,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3690:Cln6
|
UTSW |
9 |
62,754,252 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3746:Cln6
|
UTSW |
9 |
62,754,284 (GRCm39) |
missense |
probably benign |
|
|
R3898:Cln6
|
UTSW |
9 |
62,757,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Cln6
|
UTSW |
9 |
62,746,231 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4996:Cln6
|
UTSW |
9 |
62,757,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5027:Cln6
|
UTSW |
9 |
62,754,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6048:Cln6
|
UTSW |
9 |
62,751,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Cln6
|
UTSW |
9 |
62,756,458 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7450:Cln6
|
UTSW |
9 |
62,757,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Cln6
|
UTSW |
9 |
62,758,039 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7837:Cln6
|
UTSW |
9 |
62,756,330 (GRCm39) |
missense |
|
|
|
R7982:Cln6
|
UTSW |
9 |
62,756,450 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9206:Cln6
|
UTSW |
9 |
62,756,465 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9208:Cln6
|
UTSW |
9 |
62,756,465 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9210:Cln6
|
UTSW |
9 |
62,757,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Cln6
|
UTSW |
9 |
62,757,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Cln6
|
UTSW |
9 |
62,757,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Cln6
|
UTSW |
9 |
62,754,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9618:Cln6
|
UTSW |
9 |
62,758,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9627:Cln6
|
UTSW |
9 |
62,754,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation