Incidental Mutation 'R3746:Cln6'
ID |
309815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cln6
|
Ensembl Gene |
ENSMUSG00000032245 |
Gene Name |
ceroid-lipofuscinosis, neuronal 6 |
Synonyms |
D9Bwg1455e, 1810065L06Rik |
MMRRC Submission |
040732-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3746 (G1)
|
Quality Score |
183 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
62746067-62759288 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62754284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 109
(I109V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034776]
[ENSMUST00000141821]
|
AlphaFold |
Q3U466 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034776
AA Change: I109V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034776 Gene: ENSMUSG00000032245 AA Change: I109V
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
|
Meta Mutation Damage Score |
0.0614 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (45/45) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
Abcb5 |
T |
C |
12: 118,838,355 (GRCm39) |
D1069G |
probably damaging |
Het |
Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,752,537 (GRCm39) |
V345M |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,713,162 (GRCm39) |
F1604Y |
probably benign |
Het |
Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
Dip2c |
A |
T |
13: 9,651,509 (GRCm39) |
D674V |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
Eif3g |
G |
A |
9: 20,805,993 (GRCm39) |
R295C |
probably benign |
Het |
Epha5 |
T |
C |
5: 84,206,963 (GRCm39) |
K998E |
probably damaging |
Het |
Fam171b |
A |
T |
2: 83,709,944 (GRCm39) |
T539S |
probably damaging |
Het |
Fer1l4 |
G |
T |
2: 155,876,968 (GRCm39) |
H1159N |
probably benign |
Het |
Fsip1 |
A |
G |
2: 118,063,531 (GRCm39) |
C313R |
probably damaging |
Het |
Gm37240 |
T |
G |
3: 84,426,919 (GRCm39) |
N168T |
probably benign |
Het |
Gm7589 |
T |
C |
9: 59,053,138 (GRCm39) |
|
noncoding transcript |
Het |
Igkv20-101-2 |
A |
T |
6: 68,451,942 (GRCm39) |
I66L |
possibly damaging |
Het |
Irf3 |
T |
C |
7: 44,648,297 (GRCm39) |
F54S |
probably damaging |
Het |
Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
Map3k21 |
A |
G |
8: 126,661,839 (GRCm39) |
K479E |
probably damaging |
Het |
Mpdz |
A |
C |
4: 81,281,384 (GRCm39) |
V609G |
probably damaging |
Het |
Opcml |
G |
A |
9: 28,812,826 (GRCm39) |
V173M |
possibly damaging |
Het |
Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
Pcdh17 |
A |
T |
14: 84,770,477 (GRCm39) |
Y985F |
probably benign |
Het |
Piezo1 |
G |
T |
8: 123,219,377 (GRCm39) |
F1084L |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,128,524 (GRCm39) |
*4060Q |
probably null |
Het |
Plekhn1 |
T |
C |
4: 156,310,051 (GRCm39) |
T88A |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
Rmdn2 |
T |
A |
17: 79,977,981 (GRCm39) |
|
probably null |
Het |
Selenom |
A |
G |
11: 3,467,132 (GRCm39) |
E137G |
probably benign |
Het |
Slc38a7 |
A |
G |
8: 96,570,380 (GRCm39) |
|
probably benign |
Het |
Slc39a12 |
T |
C |
2: 14,400,878 (GRCm39) |
|
probably benign |
Het |
Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Trim63 |
G |
A |
4: 134,042,665 (GRCm39) |
C44Y |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
Vmn1r4 |
A |
G |
6: 56,934,116 (GRCm39) |
R207G |
probably damaging |
Het |
Vmn2r76 |
A |
G |
7: 85,874,763 (GRCm39) |
V738A |
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
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 |
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 |
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'- TGATCAGTAGCTAGGCTGCC -3'
(R):5'- AGACAACAGTGCCTTCCCTC -3'
Sequencing Primer
(F):5'- TAGCTAGGCTGCCCTGCTAAG -3'
(R):5'- ATACAATCTATGGTCAGCCTGGGC -3'
|
Posted On |
2015-04-17 |