Incidental Mutation 'IGL01603:Cln3'
| ID |
92208 |
| 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 # |
IGL01603
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126170571-126184991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 126174526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 275
(N275T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000150917]
[ENSMUST00000128970]
|
| AlphaFold |
Q61124 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032962
AA Change: N299T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032962
Gene: ENSMUSG00000030720
AA Change: N299T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084589
AA Change: N299T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000081636
Gene: ENSMUSG00000030720
AA Change: N299T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098036
AA Change: N275T
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095644
Gene: ENSMUSG00000030720
AA Change: N275T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
414 |
4.3e-191 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116269
AA Change: N299T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111973
Gene: ENSMUSG00000030720
AA Change: N299T
| 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: ENSMUST00000134246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184825
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138285
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
T |
A |
17: 32,564,327 (GRCm39) |
D20V |
probably damaging |
Het |
| Akr1c12 |
A |
G |
13: 4,322,926 (GRCm39) |
|
probably null |
Het |
| Baiap2l1 |
C |
T |
5: 144,217,625 (GRCm39) |
|
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,947,037 (GRCm39) |
F184L |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,454,154 (GRCm38) |
|
probably benign |
Het |
| Cbr4 |
A |
T |
8: 61,956,245 (GRCm39) |
*237Y |
probably null |
Het |
| Csf1r |
A |
G |
18: 61,262,373 (GRCm39) |
E823G |
probably damaging |
Het |
| Ctr9 |
C |
A |
7: 110,648,538 (GRCm39) |
A726D |
probably damaging |
Het |
| Def6 |
C |
T |
17: 28,438,714 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,743,030 (GRCm39) |
I395N |
probably damaging |
Het |
| Eln |
T |
C |
5: 134,747,894 (GRCm39) |
|
probably benign |
Het |
| Fasn |
A |
T |
11: 120,706,891 (GRCm39) |
H920Q |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,770,832 (GRCm39) |
I78T |
probably damaging |
Het |
| Gm7275 |
A |
T |
16: 47,893,942 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
A |
C |
7: 87,252,386 (GRCm39) |
Y212S |
probably damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,231,129 (GRCm39) |
|
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,942,175 (GRCm39) |
V528A |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,280,114 (GRCm39) |
A3168T |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,634,058 (GRCm39) |
S18P |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,575,564 (GRCm39) |
K294I |
possibly damaging |
Het |
| Lama4 |
G |
A |
10: 38,941,642 (GRCm39) |
G693E |
possibly damaging |
Het |
| Ldb1 |
A |
T |
19: 46,024,014 (GRCm39) |
I124K |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,635 (GRCm39) |
T680I |
probably benign |
Het |
| Lypd10 |
T |
A |
7: 24,411,954 (GRCm39) |
W45R |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,758,010 (GRCm39) |
D186V |
possibly damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,374 (GRCm39) |
Y148C |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,569,473 (GRCm39) |
A178T |
probably benign |
Het |
| Mylip |
A |
C |
13: 45,543,479 (GRCm39) |
E16A |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,352,379 (GRCm39) |
F828S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,928,631 (GRCm39) |
F6012L |
probably damaging |
Het |
| Or14a257 |
A |
G |
7: 86,138,139 (GRCm39) |
S207P |
possibly damaging |
Het |
| Or2o1 |
A |
C |
11: 49,051,438 (GRCm39) |
D199A |
probably damaging |
Het |
| Or5p54 |
A |
G |
7: 107,554,580 (GRCm39) |
Y244C |
possibly damaging |
Het |
| Pcid2 |
T |
A |
8: 13,129,936 (GRCm39) |
K273N |
possibly damaging |
Het |
| Plekhm3 |
C |
T |
1: 64,960,991 (GRCm39) |
D422N |
probably damaging |
Het |
| Prr12 |
T |
C |
7: 44,692,909 (GRCm39) |
H1541R |
probably damaging |
Het |
| Psg26 |
A |
C |
7: 18,209,028 (GRCm39) |
V460G |
probably damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,459 (GRCm39) |
R295* |
probably null |
Het |
| Sbf1 |
A |
T |
15: 89,187,481 (GRCm39) |
V690E |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,449,910 (GRCm39) |
S108T |
probably benign |
Het |
| Sin3b |
T |
C |
8: 73,476,692 (GRCm39) |
Y709H |
probably damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,481,989 (GRCm39) |
W160R |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,704,466 (GRCm39) |
D449V |
probably damaging |
Het |
| Tas2r108 |
C |
A |
6: 40,470,720 (GRCm39) |
N65K |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,063,575 (GRCm39) |
F1002I |
possibly damaging |
Het |
| Trpm5 |
G |
A |
7: 142,629,338 (GRCm39) |
S942L |
probably benign |
Het |
| Tspan5 |
T |
C |
3: 138,596,517 (GRCm39) |
S52P |
probably damaging |
Het |
| Uqcrfs1 |
T |
C |
13: 30,725,181 (GRCm39) |
T120A |
probably benign |
Het |
| Usp6nl |
T |
C |
2: 6,428,246 (GRCm39) |
F193L |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,030,833 (GRCm39) |
C523S |
probably damaging |
Het |
| Wfdc2 |
C |
T |
2: 164,405,979 (GRCm39) |
P92S |
probably benign |
Het |
| Zbtb18 |
A |
T |
1: 177,275,549 (GRCm39) |
H303L |
probably benign |
Het |
| Zfp174 |
A |
T |
16: 3,672,153 (GRCm39) |
H234L |
probably benign |
Het |
| Zmynd12 |
T |
C |
4: 119,299,117 (GRCm39) |
|
probably null |
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 |
|
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 |
2013-12-09 |
Incidental Mutation