Incidental Mutation 'IGL01084:Cln3'
ID |
51475 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cln3
|
Ensembl Gene |
ENSMUSG00000030720 |
Gene Name |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
Synonyms |
battenin |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01084
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126170571-126184991 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126174426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 304
(E304G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000150917]
[ENSMUST00000128970]
|
AlphaFold |
Q61124 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032962
AA Change: E304G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032962 Gene: ENSMUSG00000030720 AA Change: E304G
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084589
AA Change: E304G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081636 Gene: ENSMUSG00000030720 AA Change: E304G
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098036
AA Change: E280G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095644 Gene: ENSMUSG00000030720 AA Change: E280G
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
414 |
4.3e-191 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116269
AA Change: E304G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111973 Gene: ENSMUSG00000030720 AA Change: E304G
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
39 |
437 |
1.6e-140 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124177
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125508
|
SMART Domains |
Protein: ENSMUSP00000117561 Gene: ENSMUSG00000030720
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
76 |
1.2e-17 |
PFAM |
Pfam:CLN3
|
73 |
151 |
2.8e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153790
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184825
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139766
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150917
|
SMART Domains |
Protein: ENSMUSP00000138688 Gene: ENSMUSG00000030720
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
77 |
1.6e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128970
|
SMART Domains |
Protein: ENSMUSP00000114901 Gene: ENSMUSG00000030720
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
196 |
1.2e-87 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a transmembrane protein called battenin that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis genes, cause a number of neurodegenerative diseases collectively known as neuronal ceroid lipofuscinoses, the most common of which is juvenile neuronal ceroid-lipofuscinosis (Batten disease). Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] PHENOTYPE: Nullizygous mutations can result in neuronal ceroid lipofuscinosis, degeneration of the retina, cerebral cortex and cerebellum, hypertrophy of hippocampal interneuron populations, gliosis, neurological deficits, and premature death. Homozygotes for a null allele show impaired water and K+ balance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aagab |
C |
A |
9: 63,546,901 (GRCm39) |
Q284K |
probably damaging |
Het |
Adgrd1 |
A |
T |
5: 129,216,656 (GRCm39) |
N341I |
probably benign |
Het |
Arhgap40 |
T |
C |
2: 158,385,138 (GRCm39) |
F457S |
probably damaging |
Het |
Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
Catsper1 |
G |
A |
19: 5,387,800 (GRCm39) |
V360M |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,969,839 (GRCm39) |
|
probably benign |
Het |
Cep250 |
C |
T |
2: 155,840,313 (GRCm39) |
H2424Y |
probably benign |
Het |
Eml2 |
T |
A |
7: 18,924,663 (GRCm39) |
C177* |
probably null |
Het |
Epha5 |
G |
A |
5: 84,218,946 (GRCm39) |
R917* |
probably null |
Het |
Gabra2 |
A |
G |
5: 71,163,576 (GRCm39) |
F244L |
probably damaging |
Het |
Gars1 |
C |
A |
6: 55,032,812 (GRCm39) |
D261E |
probably benign |
Het |
Gata3os |
A |
G |
2: 9,887,884 (GRCm39) |
|
probably benign |
Het |
Keg1 |
A |
G |
19: 12,691,976 (GRCm39) |
K98E |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,904,110 (GRCm39) |
|
probably benign |
Het |
Matn1 |
A |
G |
4: 130,679,245 (GRCm39) |
K300E |
probably benign |
Het |
Mesp1 |
A |
G |
7: 79,442,831 (GRCm39) |
S149P |
probably benign |
Het |
Mmp10 |
T |
C |
9: 7,505,651 (GRCm39) |
V305A |
possibly damaging |
Het |
Muc5b |
T |
C |
7: 141,397,186 (GRCm39) |
|
probably benign |
Het |
Myof |
T |
C |
19: 37,924,884 (GRCm39) |
T1181A |
probably damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,353 (GRCm39) |
L27Q |
probably damaging |
Het |
Or5d35 |
T |
C |
2: 87,855,347 (GRCm39) |
S94P |
probably benign |
Het |
Or9i16 |
G |
T |
19: 13,864,866 (GRCm39) |
T236N |
probably damaging |
Het |
Osbpl11 |
T |
C |
16: 33,047,221 (GRCm39) |
|
probably benign |
Het |
Prune2 |
T |
C |
19: 17,095,573 (GRCm39) |
V359A |
probably benign |
Het |
Ptch1 |
T |
A |
13: 63,691,451 (GRCm39) |
E267D |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,848,941 (GRCm39) |
E1049G |
probably damaging |
Het |
Ruvbl2 |
A |
T |
7: 45,071,947 (GRCm39) |
|
probably null |
Het |
Sec23b |
A |
G |
2: 144,406,509 (GRCm39) |
I101M |
possibly damaging |
Het |
Srms |
A |
C |
2: 180,848,177 (GRCm39) |
|
probably null |
Het |
Svep1 |
T |
A |
4: 58,111,419 (GRCm39) |
T1067S |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem127 |
T |
C |
2: 127,099,006 (GRCm39) |
V180A |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
Trpv3 |
G |
A |
11: 73,184,826 (GRCm39) |
|
probably null |
Het |
Tti1 |
C |
T |
2: 157,824,379 (GRCm39) |
V1025I |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,030,433 (GRCm39) |
Y753C |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,881,525 (GRCm39) |
L1350S |
probably benign |
Het |
Zfp287 |
G |
T |
11: 62,604,716 (GRCm39) |
Y730* |
probably null |
Het |
Zfp583 |
A |
G |
7: 6,320,184 (GRCm39) |
F276S |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,921,780 (GRCm39) |
Y636H |
probably benign |
Het |
|
Other mutations in Cln3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01603:Cln3
|
APN |
7 |
126,174,526 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02216:Cln3
|
APN |
7 |
126,174,514 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02440:Cln3
|
APN |
7 |
126,181,954 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03118:Cln3
|
APN |
7 |
126,174,569 (GRCm39) |
missense |
probably null |
0.00 |
R0326:Cln3
|
UTSW |
7 |
126,182,217 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
R0610:Cln3
|
UTSW |
7 |
126,179,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1256:Cln3
|
UTSW |
7 |
126,182,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R2136:Cln3
|
UTSW |
7 |
126,181,971 (GRCm39) |
missense |
probably benign |
0.00 |
R2202:Cln3
|
UTSW |
7 |
126,178,390 (GRCm39) |
missense |
probably benign |
0.11 |
R3977:Cln3
|
UTSW |
7 |
126,179,308 (GRCm39) |
splice site |
probably benign |
|
R4563:Cln3
|
UTSW |
7 |
126,171,730 (GRCm39) |
missense |
probably damaging |
0.98 |
R4690:Cln3
|
UTSW |
7 |
126,174,565 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4936:Cln3
|
UTSW |
7 |
126,174,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R5668:Cln3
|
UTSW |
7 |
126,171,558 (GRCm39) |
missense |
probably benign |
0.01 |
R5726:Cln3
|
UTSW |
7 |
126,174,673 (GRCm39) |
missense |
probably null |
0.00 |
R6385:Cln3
|
UTSW |
7 |
126,174,207 (GRCm39) |
missense |
probably null |
1.00 |
R6591:Cln3
|
UTSW |
7 |
126,178,606 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6691:Cln3
|
UTSW |
7 |
126,178,606 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6891:Cln3
|
UTSW |
7 |
126,181,975 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7173:Cln3
|
UTSW |
7 |
126,178,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R7214:Cln3
|
UTSW |
7 |
126,181,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R7426:Cln3
|
UTSW |
7 |
126,180,912 (GRCm39) |
missense |
probably benign |
0.31 |
R7520:Cln3
|
UTSW |
7 |
126,180,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R7556:Cln3
|
UTSW |
7 |
126,174,242 (GRCm39) |
missense |
probably damaging |
0.97 |
R7761:Cln3
|
UTSW |
7 |
126,180,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |