Incidental Mutation 'R3898:Cln6'
| ID |
309058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cln6
|
| Ensembl Gene |
ENSMUSG00000032245 |
| Gene Name |
ceroid-lipofuscinosis, neuronal 6 |
| Synonyms |
D9Bwg1455e, 1810065L06Rik |
| MMRRC Submission |
040906-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3898 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
62746067-62759288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 62757934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 231
(F231C)
|
| 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: F231C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034776
Gene: ENSMUSG00000032245
AA Change: F231C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN6
|
27 |
306 |
1.3e-167 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124984
AA Change: F113C
|
| SMART Domains |
Protein: ENSMUSP00000115675
Gene: ENSMUSG00000032245
AA Change: F113C
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg1 |
A |
C |
16: 5,054,253 (GRCm39) |
I154L |
possibly damaging |
Het |
| Ankra2 |
C |
T |
13: 98,410,317 (GRCm39) |
L136F |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,884,580 (GRCm39) |
S356P |
probably benign |
Het |
| Cad |
G |
T |
5: 31,231,366 (GRCm39) |
C1633F |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,528,125 (GRCm39) |
R425W |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,912,799 (GRCm39) |
K593E |
possibly damaging |
Het |
| Cdh8 |
T |
A |
8: 99,898,005 (GRCm39) |
E436V |
probably damaging |
Het |
| Cfap95 |
A |
G |
19: 23,570,466 (GRCm39) |
V101A |
probably benign |
Het |
| Cul2 |
A |
G |
18: 3,434,033 (GRCm39) |
K677E |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,834 (GRCm39) |
I215V |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,399,790 (GRCm39) |
D393G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,282,417 (GRCm39) |
V2850A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,347,460 (GRCm39) |
S50T |
probably benign |
Het |
| Ecscr |
A |
G |
18: 35,846,705 (GRCm39) |
S230P |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,261,404 (GRCm39) |
V527A |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Fli1 |
C |
T |
9: 32,388,018 (GRCm39) |
G24R |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,346 (GRCm39) |
D71G |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,244,312 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,277,018 (GRCm39) |
F713S |
probably damaging |
Het |
| H2-Q2 |
C |
T |
17: 35,561,743 (GRCm39) |
P78S |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,751,479 (GRCm39) |
A306T |
probably damaging |
Het |
| Lmntd1 |
G |
A |
6: 145,359,152 (GRCm39) |
P333S |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,427,969 (GRCm39) |
R535* |
probably null |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
G |
A |
11: 71,013,700 (GRCm39) |
P517S |
probably benign |
Het |
| Or2y13 |
A |
T |
11: 49,415,386 (GRCm39) |
I279F |
probably damaging |
Het |
| Pou4f1 |
T |
C |
14: 104,703,165 (GRCm39) |
*422W |
probably null |
Het |
| Ptpn14 |
C |
T |
1: 189,582,728 (GRCm39) |
P525L |
probably benign |
Het |
| Pyroxd2 |
C |
A |
19: 42,728,831 (GRCm39) |
G190C |
probably damaging |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,887,691 (GRCm39) |
|
noncoding transcript |
Het |
| Tbc1d5 |
A |
T |
17: 51,270,772 (GRCm39) |
F153Y |
probably damaging |
Het |
| Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
| Trim30d |
T |
A |
7: 104,132,736 (GRCm39) |
I184L |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,997,983 (GRCm39) |
S1727G |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,966,999 (GRCm39) |
F77L |
probably benign |
Het |
| Vmn2r12 |
C |
T |
5: 109,238,370 (GRCm39) |
A457T |
probably benign |
Het |
| Xirp1 |
A |
T |
9: 119,848,406 (GRCm39) |
M159K |
probably benign |
Het |
| Zkscan17 |
C |
T |
11: 59,394,263 (GRCm39) |
A113T |
probably damaging |
Het |
| Zyg11a |
T |
A |
4: 108,067,391 (GRCm39) |
N40Y |
probably 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 |
|
R3746:Cln6
|
UTSW |
9 |
62,754,284 (GRCm39) |
missense |
probably benign |
|
|
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'- ACACTCGGTCCACTCACTAG -3'
(R):5'- CACTGTTGACTGCTAACGTGG -3'
Sequencing Primer
(F):5'- CACTAGGTGAGATGTTCCGATTGAC -3'
(R):5'- AGATGACACCAGGGTACTTCTTTCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation