Incidental Mutation 'IGL00434:Clcn6'
| ID |
6526 |
| 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 # |
IGL00434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 148098195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 581
(D581E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
| AlphaFold |
O35454 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030879
AA Change: D578E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: D578E
| 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 damaging
Transcript: ENSMUST00000105711
AA Change: D581E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: D581E
| 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 damaging
Transcript: ENSMUST00000137724
AA Change: D581E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: D581E
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,269,181 (GRCm39) |
V1098A |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,448 (GRCm39) |
F2609L |
probably damaging |
Het |
| Ccdc126 |
C |
T |
6: 49,311,239 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,135,271 (GRCm39) |
L54P |
probably damaging |
Het |
| Cdsn |
A |
T |
17: 35,865,740 (GRCm39) |
S90C |
unknown |
Het |
| Clec4f |
T |
A |
6: 83,630,198 (GRCm39) |
H120L |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,560,614 (GRCm39) |
T1838A |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,878,524 (GRCm39) |
D211G |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,381,261 (GRCm39) |
|
probably benign |
Het |
| Dgkk |
T |
A |
X: 6,772,697 (GRCm39) |
M462K |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,091,759 (GRCm39) |
H834Q |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,353,504 (GRCm39) |
Y578H |
possibly damaging |
Het |
| Fnip2 |
C |
A |
3: 79,419,796 (GRCm39) |
|
probably benign |
Het |
| Fut1 |
T |
G |
7: 45,268,855 (GRCm39) |
C270G |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,884,707 (GRCm39) |
V170D |
probably damaging |
Het |
| Gys1 |
T |
A |
7: 45,094,256 (GRCm39) |
M364K |
possibly damaging |
Het |
| Ighv1-85 |
A |
C |
12: 115,963,654 (GRCm39) |
C115W |
probably damaging |
Het |
| Igkv4-74 |
T |
G |
6: 69,162,044 (GRCm39) |
T42P |
probably damaging |
Het |
| Jmjd4 |
A |
G |
11: 59,341,321 (GRCm39) |
Y84C |
probably damaging |
Het |
| Kif11 |
A |
C |
19: 37,399,857 (GRCm39) |
E781D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Klf1 |
C |
T |
8: 85,628,628 (GRCm39) |
P9S |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,191 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,028,230 (GRCm39) |
R309L |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,293,014 (GRCm39) |
E131G |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mgme1 |
T |
A |
2: 144,121,056 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
G |
A |
11: 100,515,808 (GRCm39) |
G45D |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,532,875 (GRCm39) |
D16E |
possibly damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,830,613 (GRCm39) |
T420A |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,826,088 (GRCm39) |
G302C |
probably damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,741,738 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,503 (GRCm39) |
D89G |
probably damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,776 (GRCm39) |
R302H |
probably benign |
Het |
| Riok3 |
T |
C |
18: 12,281,904 (GRCm39) |
V291A |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,007,219 (GRCm39) |
|
probably benign |
Het |
| Scai |
C |
A |
2: 38,998,406 (GRCm39) |
L174F |
probably damaging |
Het |
| Slc25a44 |
T |
C |
3: 88,323,369 (GRCm39) |
I227V |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,938,548 (GRCm39) |
L160P |
probably damaging |
Het |
| Slc38a1 |
A |
G |
15: 96,483,504 (GRCm39) |
Y275H |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,916,375 (GRCm39) |
|
noncoding transcript |
Het |
| Spag8 |
G |
T |
4: 43,652,890 (GRCm39) |
C190* |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,625 (GRCm39) |
F192L |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,850,886 (GRCm39) |
E118K |
probably damaging |
Het |
| Tti1 |
T |
A |
2: 157,850,885 (GRCm39) |
E118V |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,852,821 (GRCm39) |
P713Q |
probably damaging |
Het |
| Vcf2 |
A |
T |
X: 149,181,395 (GRCm39) |
V132E |
possibly damaging |
Het |
| Wt1 |
G |
T |
2: 104,974,486 (GRCm39) |
|
probably null |
Het |
| Xylt1 |
T |
A |
7: 117,249,912 (GRCm39) |
I694N |
probably damaging |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
| Other mutations in Clcn6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Clcn6
|
APN |
4 |
148,102,359 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2012-04-20 |
Incidental Mutation