Incidental Mutation 'R1113:Cln6'
ID |
96944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cln6
|
Ensembl Gene |
ENSMUSG00000032245 |
Gene Name |
ceroid-lipofuscinosis, neuronal 6 |
Synonyms |
D9Bwg1455e, 1810065L06Rik |
MMRRC Submission |
039186-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1113 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
62746067-62759288 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62758143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 301
(T301A)
|
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: T301A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034776 Gene: ENSMUSG00000032245 AA Change: T301A
Domain | Start | End | E-Value | Type |
Pfam:CLN6
|
27 |
306 |
1.3e-167 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000124984
AA Change: T183A
|
SMART Domains |
Protein: ENSMUSP00000115675 Gene: ENSMUSG00000032245 AA Change: T183A
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 |
probably benign
Transcript: ENSMUST00000141821
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156423
|
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 93.0%
- 20x: 82.2%
|
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: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
G |
A |
19: 8,982,984 (GRCm39) |
E1423K |
probably benign |
Het |
Angpt2 |
C |
T |
8: 18,742,134 (GRCm39) |
W474* |
probably null |
Het |
G6pc2 |
A |
T |
2: 69,050,570 (GRCm39) |
D65V |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,973,126 (GRCm39) |
S395P |
probably damaging |
Het |
Myo6 |
G |
A |
9: 80,152,996 (GRCm39) |
V210I |
probably damaging |
Het |
Otoa |
C |
A |
7: 120,724,666 (GRCm39) |
C448* |
probably null |
Het |
Pate6 |
T |
C |
9: 35,700,385 (GRCm39) |
T67A |
probably benign |
Het |
Prkcg |
G |
C |
7: 3,377,622 (GRCm39) |
K525N |
probably damaging |
Het |
Pros1 |
G |
A |
16: 62,734,228 (GRCm39) |
D345N |
probably damaging |
Het |
Prss47 |
T |
C |
13: 65,199,630 (GRCm39) |
H83R |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Tekt2 |
A |
T |
4: 126,218,711 (GRCm39) |
L14H |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,781,982 (GRCm39) |
F857S |
probably damaging |
Het |
Try4 |
G |
T |
6: 41,282,308 (GRCm39) |
Q209H |
possibly damaging |
Het |
Wdfy4 |
G |
A |
14: 32,693,695 (GRCm39) |
S2710L |
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 |
IGL01601:Cln6
|
APN |
9 |
62,754,252 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCACTCACTAGGTGAGATGTTCCG -3'
(R):5'- TATCTCCATAAGGCCAGCCCAGTC -3'
Sequencing Primer
(F):5'- ACTTGGTCCAGGAGGATGC -3'
(R):5'- TTCCATCTTAAGTCCAAAGGGGG -3'
|
Posted On |
2014-01-05 |