Incidental Mutation 'R6385:Cln3'
ID |
515554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cln3
|
Ensembl Gene |
ENSMUSG00000030720 |
Gene Name |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
Synonyms |
battenin |
MMRRC Submission |
044534-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6385 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126170571-126184991 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126174207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 339
(C339S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000128970]
[ENSMUST00000150917]
|
AlphaFold |
Q61124 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032962
AA Change: C339S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032962 Gene: ENSMUSG00000030720 AA Change: C339S
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000084589
AA Change: C339S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081636 Gene: ENSMUSG00000030720 AA Change: C339S
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098036
AA Change: C315S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095644 Gene: ENSMUSG00000030720 AA Change: C315S
Domain | Start | End | E-Value | Type |
Pfam:CLN3
|
37 |
414 |
4.3e-191 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000116269
AA Change: C339S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111973 Gene: ENSMUSG00000030720 AA Change: C339S
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: ENSMUST00000139766
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138285
|
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 |
noncoding transcript
Transcript: ENSMUST00000153790
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184825
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
Validation Efficiency |
98% (55/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,236 (GRCm39) |
M910L |
probably benign |
Het |
Abca9 |
T |
A |
11: 110,025,080 (GRCm39) |
I988F |
probably damaging |
Het |
Adgra2 |
A |
T |
8: 27,608,878 (GRCm39) |
S92C |
probably damaging |
Het |
Apon |
A |
G |
10: 128,090,223 (GRCm39) |
|
probably benign |
Het |
Arap3 |
G |
A |
18: 38,130,084 (GRCm39) |
R26* |
probably null |
Het |
Btnl6 |
T |
G |
17: 34,727,343 (GRCm39) |
I396L |
probably benign |
Het |
Catsper3 |
G |
T |
13: 55,934,239 (GRCm39) |
Q53H |
probably damaging |
Het |
Cep164 |
T |
G |
9: 45,691,081 (GRCm39) |
E372A |
probably damaging |
Het |
Cntnap2 |
G |
A |
6: 46,833,114 (GRCm39) |
D776N |
probably benign |
Het |
Cttnbp2nl |
A |
G |
3: 104,912,952 (GRCm39) |
F311L |
probably benign |
Het |
Daam2 |
C |
T |
17: 49,770,964 (GRCm39) |
A918T |
probably damaging |
Het |
Dst |
T |
C |
1: 34,346,549 (GRCm39) |
V7353A |
possibly damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fanca |
A |
T |
8: 124,032,606 (GRCm39) |
|
probably null |
Het |
Filip1 |
G |
T |
9: 79,727,813 (GRCm39) |
Q269K |
possibly damaging |
Het |
Fut9 |
G |
A |
4: 25,620,328 (GRCm39) |
S162L |
probably damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,433,544 (GRCm39) |
H294Q |
probably benign |
Het |
Gucy1a1 |
A |
G |
3: 82,016,313 (GRCm39) |
I225T |
probably benign |
Het |
H2-DMb1 |
T |
A |
17: 34,374,576 (GRCm39) |
N75K |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
Hes1 |
A |
G |
16: 29,884,424 (GRCm39) |
M6V |
possibly damaging |
Het |
Hydin |
A |
T |
8: 111,038,856 (GRCm39) |
H198L |
possibly damaging |
Het |
Iars1 |
T |
C |
13: 49,855,371 (GRCm39) |
L266P |
probably damaging |
Het |
Ifna11 |
A |
G |
4: 88,738,386 (GRCm39) |
E64G |
probably damaging |
Het |
Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,838,326 (GRCm39) |
T850A |
probably damaging |
Het |
Lgi3 |
A |
G |
14: 70,768,610 (GRCm39) |
T36A |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,326,128 (GRCm39) |
S1810G |
probably benign |
Het |
Lypd10 |
A |
T |
7: 24,413,535 (GRCm39) |
I184F |
probably damaging |
Het |
Msln |
T |
A |
17: 25,970,115 (GRCm39) |
D280V |
probably benign |
Het |
Myh4 |
A |
T |
11: 67,146,663 (GRCm39) |
I1513F |
probably damaging |
Het |
Ncf2 |
A |
T |
1: 152,706,173 (GRCm39) |
M262L |
probably benign |
Het |
Neb |
G |
T |
2: 52,075,311 (GRCm39) |
A218D |
probably damaging |
Het |
Notch4 |
C |
A |
17: 34,792,788 (GRCm39) |
Q640K |
probably null |
Het |
Or4f7 |
T |
C |
2: 111,644,964 (GRCm39) |
I36V |
probably benign |
Het |
Or52e19b |
A |
T |
7: 103,033,104 (GRCm39) |
V35D |
possibly damaging |
Het |
Or6k6 |
A |
T |
1: 173,944,862 (GRCm39) |
F240Y |
probably damaging |
Het |
Pear1 |
G |
T |
3: 87,661,506 (GRCm39) |
H562N |
probably benign |
Het |
Poli |
C |
A |
18: 70,663,072 (GRCm39) |
|
probably benign |
Het |
Ppp3r2 |
A |
G |
4: 49,681,767 (GRCm39) |
I61T |
possibly damaging |
Het |
Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
Serhl |
A |
G |
15: 82,985,823 (GRCm39) |
T5A |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,405,578 (GRCm39) |
|
probably null |
Het |
Slc22a28 |
A |
G |
19: 8,078,844 (GRCm39) |
S282P |
probably damaging |
Het |
Slc2a12 |
C |
T |
10: 22,569,929 (GRCm39) |
T540I |
possibly damaging |
Het |
Slurp2 |
T |
C |
15: 74,618,524 (GRCm39) |
M1V |
probably null |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,185,411 (GRCm39) |
A700T |
probably benign |
Het |
Ttn |
C |
T |
2: 76,748,192 (GRCm39) |
V4286I |
probably benign |
Het |
Ube2u |
A |
G |
4: 100,389,341 (GRCm39) |
K214R |
possibly damaging |
Het |
Vmn1r46 |
A |
G |
6: 89,953,427 (GRCm39) |
H92R |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,067,504 (GRCm39) |
I1486T |
probably damaging |
Het |
Zc3h11a |
A |
T |
1: 133,565,192 (GRCm39) |
S236T |
possibly damaging |
Het |
Zfp318 |
A |
G |
17: 46,721,932 (GRCm39) |
K1312E |
probably damaging |
Het |
Zfp930 |
A |
G |
8: 69,681,283 (GRCm39) |
Y326C |
probably damaging |
Het |
Zfp972 |
G |
T |
2: 177,563,588 (GRCm39) |
D8E |
probably damaging |
Het |
|
Other mutations in Cln3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01084:Cln3
|
APN |
7 |
126,174,426 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGCCACCACACATTTTATATGG -3'
(R):5'- AGAGATAGGGCTGAGGTTCC -3'
Sequencing Primer
(F):5'- CACATTTTATATGGAGTCCAGCTGGC -3'
(R):5'- ATGCTCAGCAGTACCGATG -3'
|
Posted On |
2018-05-04 |