Incidental Mutation 'IGL00334:Clcn6'
ID |
332308 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clcn6
|
Ensembl Gene |
ENSMUSG00000029016 |
Gene Name |
chloride channel, voltage-sensitive 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL00334
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to A
at 148102359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
AlphaFold |
O35454 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030879
|
SMART Domains |
Protein: ENSMUSP00000030879 Gene: ENSMUSG00000029016
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
138 |
571 |
5.5e-98 |
PFAM |
CBS
|
609 |
658 |
1.68e-3 |
SMART |
CBS
|
811 |
859 |
1.34e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105711
|
SMART Domains |
Protein: ENSMUSP00000101336 Gene: ENSMUSG00000029016
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
141 |
574 |
1.5e-98 |
PFAM |
CBS
|
612 |
661 |
1.68e-3 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137724
|
SMART Domains |
Protein: ENSMUSP00000121751 Gene: ENSMUSG00000029016
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
141 |
574 |
1.9e-101 |
PFAM |
CBS
|
612 |
661 |
1.68e-3 |
SMART |
CBS
|
814 |
862 |
1.34e-11 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the ClC chloride channel and transporter family of proteins. The encoded protein may function as a vesicular Cl-/H+ antiporter. Homozygous knockout mice exhibit decreased pain sensitivity, behavioral abnormalities and features of lysosomal storage disease. [provided by RefSeq, Aug 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired nociception, mild behavioral abnormalities, and a progressive neuropathy of the central and peripheral nervous systems with features of neuronal ceroid lipofuscinosis (a lysosomal storage disease). [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsb |
T |
G |
13: 94,075,787 (GRCm39) |
H423Q |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,160,400 (GRCm39) |
L620I |
possibly damaging |
Het |
Ces1f |
T |
C |
8: 93,994,620 (GRCm39) |
T264A |
probably benign |
Het |
Cyb5r3 |
C |
A |
15: 83,044,605 (GRCm39) |
A138S |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,307,834 (GRCm39) |
N197Y |
probably damaging |
Het |
Dctn2 |
A |
G |
10: 127,113,559 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
C |
T |
9: 20,821,566 (GRCm39) |
A1197T |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,595,488 (GRCm39) |
D436G |
probably damaging |
Het |
Drd4 |
A |
G |
7: 140,872,096 (GRCm39) |
N49S |
probably damaging |
Het |
Dst |
T |
A |
1: 34,205,373 (GRCm39) |
V521D |
probably damaging |
Het |
Eif5b |
T |
C |
1: 38,080,800 (GRCm39) |
S714P |
probably damaging |
Het |
Glis3 |
A |
G |
19: 28,517,664 (GRCm39) |
I178T |
probably damaging |
Het |
Gm11565 |
T |
A |
11: 99,806,021 (GRCm39) |
C138S |
possibly damaging |
Het |
H1f8 |
T |
A |
6: 115,924,588 (GRCm39) |
|
probably benign |
Het |
Hdx |
T |
A |
X: 110,492,578 (GRCm39) |
I623F |
probably benign |
Het |
Huwe1 |
T |
G |
X: 150,668,623 (GRCm39) |
L843V |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,447,604 (GRCm39) |
Y86H |
probably damaging |
Het |
Irf7 |
A |
T |
7: 140,844,553 (GRCm39) |
S157T |
probably benign |
Het |
Jmjd4 |
T |
A |
11: 59,346,140 (GRCm39) |
M331K |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,406,926 (GRCm39) |
D112E |
possibly damaging |
Het |
Mamdc2 |
A |
C |
19: 23,356,138 (GRCm39) |
Y103* |
probably null |
Het |
Map2k3 |
T |
C |
11: 60,834,041 (GRCm39) |
V77A |
possibly damaging |
Het |
Mideas |
G |
A |
12: 84,219,629 (GRCm39) |
R442* |
probably null |
Het |
Mprip |
T |
A |
11: 59,639,417 (GRCm39) |
D403E |
probably benign |
Het |
Mutyh |
T |
A |
4: 116,676,516 (GRCm39) |
V496D |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,321,042 (GRCm39) |
V2051A |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,367,262 (GRCm39) |
L2575P |
probably damaging |
Het |
Or10j5 |
T |
G |
1: 172,785,158 (GRCm39) |
S265R |
possibly damaging |
Het |
Or51a6 |
T |
C |
7: 102,604,311 (GRCm39) |
K173E |
probably benign |
Het |
Pcdhb6 |
T |
A |
18: 37,467,277 (GRCm39) |
I66N |
probably damaging |
Het |
Pck2 |
T |
C |
14: 55,780,098 (GRCm39) |
Y89H |
probably benign |
Het |
Poglut3 |
T |
A |
9: 53,309,330 (GRCm39) |
|
probably benign |
Het |
Poglut3 |
C |
A |
9: 53,309,328 (GRCm39) |
|
probably benign |
Het |
Polr3e |
C |
T |
7: 120,540,034 (GRCm39) |
Q594* |
probably null |
Het |
Ptpro |
T |
G |
6: 137,371,907 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
G |
10: 84,615,917 (GRCm39) |
K28E |
possibly damaging |
Het |
Shox2 |
T |
C |
3: 66,888,774 (GRCm39) |
E39G |
possibly damaging |
Het |
Slc22a16 |
A |
T |
10: 40,449,930 (GRCm39) |
D122V |
probably benign |
Het |
Smr3a |
A |
C |
5: 88,155,919 (GRCm39) |
|
probably benign |
Het |
Spmip8 |
G |
A |
8: 96,039,676 (GRCm39) |
R31H |
probably damaging |
Het |
Taf4 |
G |
T |
2: 179,618,418 (GRCm39) |
L8M |
unknown |
Het |
Tbkbp1 |
T |
A |
11: 97,028,474 (GRCm39) |
|
probably benign |
Het |
Tmem120b |
G |
T |
5: 123,253,230 (GRCm39) |
E210D |
probably damaging |
Het |
Tmem120b |
A |
T |
5: 123,253,229 (GRCm39) |
|
probably null |
Het |
Trim21 |
C |
T |
7: 102,208,805 (GRCm39) |
V305M |
probably damaging |
Het |
Ube4a |
A |
T |
9: 44,859,439 (GRCm39) |
L353Q |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,621,572 (GRCm39) |
N274K |
probably benign |
Het |
|
Other mutations in Clcn6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Clcn6
|
APN |
4 |
148,098,195 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00973:Clcn6
|
APN |
4 |
148,098,245 (GRCm39) |
splice site |
probably benign |
|
IGL01384:Clcn6
|
APN |
4 |
148,103,423 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01465:Clcn6
|
APN |
4 |
148,105,908 (GRCm39) |
splice site |
probably benign |
|
IGL01522:Clcn6
|
APN |
4 |
148,101,992 (GRCm39) |
missense |
probably benign |
0.44 |
R0194:Clcn6
|
UTSW |
4 |
148,097,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R0280:Clcn6
|
UTSW |
4 |
148,093,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Clcn6
|
UTSW |
4 |
148,108,651 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0352:Clcn6
|
UTSW |
4 |
148,099,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R0586:Clcn6
|
UTSW |
4 |
148,123,206 (GRCm39) |
unclassified |
probably benign |
|
R0927:Clcn6
|
UTSW |
4 |
148,113,849 (GRCm39) |
missense |
probably benign |
0.30 |
R1141:Clcn6
|
UTSW |
4 |
148,098,356 (GRCm39) |
missense |
probably damaging |
0.99 |
R1465:Clcn6
|
UTSW |
4 |
148,098,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Clcn6
|
UTSW |
4 |
148,098,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Clcn6
|
UTSW |
4 |
148,108,613 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1551:Clcn6
|
UTSW |
4 |
148,097,235 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1571:Clcn6
|
UTSW |
4 |
148,097,226 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1593:Clcn6
|
UTSW |
4 |
148,099,051 (GRCm39) |
missense |
probably benign |
|
R1596:Clcn6
|
UTSW |
4 |
148,107,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R1706:Clcn6
|
UTSW |
4 |
148,102,025 (GRCm39) |
missense |
probably benign |
0.00 |
R1769:Clcn6
|
UTSW |
4 |
148,098,758 (GRCm39) |
splice site |
probably null |
|
R2021:Clcn6
|
UTSW |
4 |
148,095,109 (GRCm39) |
critical splice donor site |
probably null |
|
R2022:Clcn6
|
UTSW |
4 |
148,095,109 (GRCm39) |
critical splice donor site |
probably null |
|
R2049:Clcn6
|
UTSW |
4 |
148,108,594 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2081:Clcn6
|
UTSW |
4 |
148,095,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R2140:Clcn6
|
UTSW |
4 |
148,108,594 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2141:Clcn6
|
UTSW |
4 |
148,108,594 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2142:Clcn6
|
UTSW |
4 |
148,108,594 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2177:Clcn6
|
UTSW |
4 |
148,099,057 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2511:Clcn6
|
UTSW |
4 |
148,101,951 (GRCm39) |
critical splice donor site |
probably null |
|
R2891:Clcn6
|
UTSW |
4 |
148,097,073 (GRCm39) |
critical splice donor site |
probably null |
|
R3750:Clcn6
|
UTSW |
4 |
148,108,644 (GRCm39) |
nonsense |
probably null |
|
R4014:Clcn6
|
UTSW |
4 |
148,102,067 (GRCm39) |
missense |
probably damaging |
0.98 |
R4023:Clcn6
|
UTSW |
4 |
148,098,740 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4024:Clcn6
|
UTSW |
4 |
148,098,740 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4025:Clcn6
|
UTSW |
4 |
148,098,740 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4667:Clcn6
|
UTSW |
4 |
148,108,624 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4865:Clcn6
|
UTSW |
4 |
148,104,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R4978:Clcn6
|
UTSW |
4 |
148,093,227 (GRCm39) |
missense |
probably benign |
0.05 |
R5140:Clcn6
|
UTSW |
4 |
148,122,774 (GRCm39) |
unclassified |
probably benign |
|
R5345:Clcn6
|
UTSW |
4 |
148,123,206 (GRCm39) |
unclassified |
probably benign |
|
R5467:Clcn6
|
UTSW |
4 |
148,102,093 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5665:Clcn6
|
UTSW |
4 |
148,099,018 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5739:Clcn6
|
UTSW |
4 |
148,098,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R5899:Clcn6
|
UTSW |
4 |
148,102,049 (GRCm39) |
missense |
probably benign |
0.01 |
R6043:Clcn6
|
UTSW |
4 |
148,093,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R6351:Clcn6
|
UTSW |
4 |
148,101,957 (GRCm39) |
missense |
probably benign |
0.01 |
R6593:Clcn6
|
UTSW |
4 |
148,095,226 (GRCm39) |
missense |
probably benign |
0.21 |
R7440:Clcn6
|
UTSW |
4 |
148,098,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R7674:Clcn6
|
UTSW |
4 |
148,097,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R7756:Clcn6
|
UTSW |
4 |
148,113,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R7901:Clcn6
|
UTSW |
4 |
148,095,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R8559:Clcn6
|
UTSW |
4 |
148,111,032 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8747:Clcn6
|
UTSW |
4 |
148,093,354 (GRCm39) |
critical splice donor site |
probably null |
|
R9246:Clcn6
|
UTSW |
4 |
148,113,866 (GRCm39) |
missense |
probably benign |
0.25 |
R9343:Clcn6
|
UTSW |
4 |
148,098,458 (GRCm39) |
missense |
probably benign |
0.03 |
V7732:Clcn6
|
UTSW |
4 |
148,098,412 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Clcn6
|
UTSW |
4 |
148,107,827 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-08-05 |