Incidental Mutation 'IGL01522:Clcn6'
| ID |
89424 |
| 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: 0.101)
|
| Stock # |
IGL01522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
148004259-148038821 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148017535 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 364
(Y364C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
| AlphaFold |
O35454 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030879
AA Change: Y361C
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: Y361C
| 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
AA Change: Y364C
PolyPhen 2
Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: Y364C
| 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 benign
Transcript: ENSMUST00000137724
AA Change: Y364C
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: Y364C
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010F05Rik |
A |
G |
11: 23,582,865 (GRCm38) |
|
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,065,159 (GRCm38) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,702,943 (GRCm38) |
N579S |
probably benign |
Het |
| Akr1c19 |
A |
G |
13: 4,239,099 (GRCm38) |
|
probably benign |
Het |
| Ankrd39 |
T |
A |
1: 36,542,061 (GRCm38) |
H69L |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 62,952,115 (GRCm38) |
M461K |
possibly damaging |
Het |
| Bpifa3 |
G |
A |
2: 154,137,582 (GRCm38) |
C209Y |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 120,067,163 (GRCm38) |
E779G |
probably benign |
Het |
| Cep85 |
G |
T |
4: 134,152,256 (GRCm38) |
Q394K |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 134,152,255 (GRCm38) |
Q394R |
probably damaging |
Het |
| Fetub |
G |
A |
16: 22,929,641 (GRCm38) |
M1I |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,701,201 (GRCm38) |
I1003V |
probably damaging |
Het |
| Hsf3 |
A |
G |
X: 96,320,594 (GRCm38) |
|
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,312 (GRCm38) |
N358S |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,913,972 (GRCm38) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 67,752,774 (GRCm38) |
|
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,281,238 (GRCm38) |
V50A |
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,692,228 (GRCm38) |
W35R |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,499,325 (GRCm38) |
V578A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,781,524 (GRCm38) |
E42G |
probably damaging |
Het |
| Olfr1164 |
T |
C |
2: 88,093,016 (GRCm38) |
K307E |
possibly damaging |
Het |
| Olfr1504 |
A |
T |
19: 13,887,358 (GRCm38) |
L284* |
probably null |
Het |
| Olfr344 |
A |
G |
2: 36,569,221 (GRCm38) |
T208A |
probably benign |
Het |
| Olfr547 |
A |
T |
7: 102,535,184 (GRCm38) |
I146F |
probably damaging |
Het |
| Olfr935 |
A |
T |
9: 38,995,100 (GRCm38) |
C112S |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,185,008 (GRCm38) |
F925L |
probably damaging |
Het |
| Pdcd1 |
T |
G |
1: 94,040,846 (GRCm38) |
R154S |
probably benign |
Het |
| Pepd |
T |
A |
7: 34,924,440 (GRCm38) |
D87E |
probably benign |
Het |
| Pfn4 |
A |
G |
12: 4,770,240 (GRCm38) |
T30A |
probably benign |
Het |
| Pgpep1l |
A |
G |
7: 68,237,708 (GRCm38) |
M48T |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,163,116 (GRCm38) |
N340S |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 136,002,627 (GRCm38) |
D155G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,404,069 (GRCm38) |
G499S |
probably damaging |
Het |
| Plin3 |
C |
T |
17: 56,280,799 (GRCm38) |
W305* |
probably null |
Het |
| Polq |
C |
A |
16: 37,027,903 (GRCm38) |
L291I |
probably damaging |
Het |
| Sdf2l1 |
T |
A |
16: 17,132,150 (GRCm38) |
H54L |
probably damaging |
Het |
| Slc38a2 |
C |
T |
15: 96,693,055 (GRCm38) |
D276N |
possibly damaging |
Het |
| Syk |
A |
G |
13: 52,643,061 (GRCm38) |
T576A |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,193 (GRCm38) |
V302I |
probably benign |
Het |
| Uso1 |
T |
C |
5: 92,181,419 (GRCm38) |
F389L |
probably damaging |
Het |
| Wwc2 |
T |
A |
8: 47,868,633 (GRCm38) |
Y482F |
unknown |
Het |
|
| Other mutations in Clcn6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Clcn6
|
APN |
4 |
148,017,902 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00434:Clcn6
|
APN |
4 |
148,013,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00973:Clcn6
|
APN |
4 |
148,013,788 (GRCm38) |
splice site |
probably benign |
|
|
IGL01384:Clcn6
|
APN |
4 |
148,018,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01465:Clcn6
|
APN |
4 |
148,021,451 (GRCm38) |
splice site |
probably benign |
|
|
R0194:Clcn6
|
UTSW |
4 |
148,012,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0280:Clcn6
|
UTSW |
4 |
148,008,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0349:Clcn6
|
UTSW |
4 |
148,024,194 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0352:Clcn6
|
UTSW |
4 |
148,014,606 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0586:Clcn6
|
UTSW |
4 |
148,038,749 (GRCm38) |
unclassified |
probably benign |
|
|
R0927:Clcn6
|
UTSW |
4 |
148,029,392 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1141:Clcn6
|
UTSW |
4 |
148,013,899 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1465:Clcn6
|
UTSW |
4 |
148,013,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1465:Clcn6
|
UTSW |
4 |
148,013,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1473:Clcn6
|
UTSW |
4 |
148,024,156 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1551:Clcn6
|
UTSW |
4 |
148,012,778 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R1571:Clcn6
|
UTSW |
4 |
148,012,769 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1593:Clcn6
|
UTSW |
4 |
148,014,594 (GRCm38) |
missense |
probably benign |
|
|
R1596:Clcn6
|
UTSW |
4 |
148,023,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1706:Clcn6
|
UTSW |
4 |
148,017,568 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1769:Clcn6
|
UTSW |
4 |
148,014,301 (GRCm38) |
splice site |
probably null |
|
|
R2021:Clcn6
|
UTSW |
4 |
148,010,652 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2022:Clcn6
|
UTSW |
4 |
148,010,652 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2049:Clcn6
|
UTSW |
4 |
148,024,137 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2081:Clcn6
|
UTSW |
4 |
148,011,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2140:Clcn6
|
UTSW |
4 |
148,024,137 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2141:Clcn6
|
UTSW |
4 |
148,024,137 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2142:Clcn6
|
UTSW |
4 |
148,024,137 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2177:Clcn6
|
UTSW |
4 |
148,014,600 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R2511:Clcn6
|
UTSW |
4 |
148,017,494 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2891:Clcn6
|
UTSW |
4 |
148,012,616 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3750:Clcn6
|
UTSW |
4 |
148,024,187 (GRCm38) |
nonsense |
probably null |
|
|
R4014:Clcn6
|
UTSW |
4 |
148,017,610 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4023:Clcn6
|
UTSW |
4 |
148,014,283 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4024:Clcn6
|
UTSW |
4 |
148,014,283 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4025:Clcn6
|
UTSW |
4 |
148,014,283 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4667:Clcn6
|
UTSW |
4 |
148,024,167 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R4865:Clcn6
|
UTSW |
4 |
148,019,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4978:Clcn6
|
UTSW |
4 |
148,008,770 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5140:Clcn6
|
UTSW |
4 |
148,038,317 (GRCm38) |
unclassified |
probably benign |
|
|
R5345:Clcn6
|
UTSW |
4 |
148,038,749 (GRCm38) |
unclassified |
probably benign |
|
|
R5467:Clcn6
|
UTSW |
4 |
148,017,636 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5665:Clcn6
|
UTSW |
4 |
148,014,561 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5739:Clcn6
|
UTSW |
4 |
148,014,189 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5899:Clcn6
|
UTSW |
4 |
148,017,592 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6043:Clcn6
|
UTSW |
4 |
148,008,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6351:Clcn6
|
UTSW |
4 |
148,017,500 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6593:Clcn6
|
UTSW |
4 |
148,010,769 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7440:Clcn6
|
UTSW |
4 |
148,014,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7674:Clcn6
|
UTSW |
4 |
148,012,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7756:Clcn6
|
UTSW |
4 |
148,029,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7901:Clcn6
|
UTSW |
4 |
148,010,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8559:Clcn6
|
UTSW |
4 |
148,026,575 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8747:Clcn6
|
UTSW |
4 |
148,008,897 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9246:Clcn6
|
UTSW |
4 |
148,029,409 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9343:Clcn6
|
UTSW |
4 |
148,014,001 (GRCm38) |
missense |
probably benign |
0.03 |
|
V7732:Clcn6
|
UTSW |
4 |
148,013,955 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Clcn6
|
UTSW |
4 |
148,023,370 (GRCm38) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation