Incidental Mutation 'R8747:Clcn6'
ID |
663593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcn6
|
Ensembl Gene |
ENSMUSG00000029016 |
Gene Name |
chloride channel, voltage-sensitive 6 |
Synonyms |
|
MMRRC Submission |
068618-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R8747 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 148093354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030879
(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 benign
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 |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (52/52) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
G |
5: 3,632,240 (GRCm39) |
D190G |
probably benign |
Het |
Abhd11 |
A |
G |
5: 135,040,760 (GRCm39) |
I271V |
possibly damaging |
Het |
Akap6 |
T |
G |
12: 53,188,999 (GRCm39) |
S2138A |
probably benign |
Het |
Amn |
C |
A |
12: 111,241,440 (GRCm39) |
P235H |
probably damaging |
Het |
Arf2 |
A |
T |
11: 103,859,975 (GRCm39) |
M18L |
probably benign |
Het |
Asic2 |
A |
T |
11: 81,043,233 (GRCm39) |
F20Y |
possibly damaging |
Het |
Bok |
T |
C |
1: 93,622,664 (GRCm39) |
|
probably null |
Het |
Cachd1 |
T |
A |
4: 100,860,045 (GRCm39) |
|
probably benign |
Het |
Casp8 |
A |
G |
1: 58,883,617 (GRCm39) |
N308S |
probably benign |
Het |
Cavin3 |
G |
T |
7: 105,131,154 (GRCm39) |
H71Q |
possibly damaging |
Het |
Ccdc87 |
A |
G |
19: 4,891,646 (GRCm39) |
I713V |
probably benign |
Het |
Cmas |
T |
C |
6: 142,716,927 (GRCm39) |
I273T |
possibly damaging |
Het |
Ctxn3 |
A |
T |
18: 57,610,378 (GRCm39) |
D65V |
probably damaging |
Het |
D130040H23Rik |
C |
A |
8: 69,755,705 (GRCm39) |
N387K |
probably benign |
Het |
Depp1 |
T |
A |
6: 116,629,122 (GRCm39) |
L155Q |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,818,816 (GRCm39) |
K3174R |
possibly damaging |
Het |
Ecpas |
C |
T |
4: 58,828,632 (GRCm39) |
V934I |
probably damaging |
Het |
Efcab14 |
A |
G |
4: 115,603,793 (GRCm39) |
N157S |
probably damaging |
Het |
Ets1 |
G |
A |
9: 32,641,474 (GRCm39) |
G109D |
probably damaging |
Het |
Fbln5 |
G |
A |
12: 101,734,754 (GRCm39) |
R173C |
probably damaging |
Het |
Fchsd1 |
G |
A |
18: 38,096,035 (GRCm39) |
P525L |
probably benign |
Het |
Gmppa |
G |
A |
1: 75,416,025 (GRCm39) |
V156I |
probably damaging |
Het |
Gtpbp1 |
A |
G |
15: 79,603,482 (GRCm39) |
D182G |
|
Het |
Ift140 |
T |
A |
17: 25,254,809 (GRCm39) |
S430T |
probably benign |
Het |
Kat7 |
G |
C |
11: 95,185,392 (GRCm39) |
C161W |
probably damaging |
Het |
Lipk |
T |
A |
19: 33,996,184 (GRCm39) |
M32K |
probably damaging |
Het |
Lum |
A |
T |
10: 97,404,351 (GRCm39) |
D82V |
possibly damaging |
Het |
Macf1 |
C |
A |
4: 123,248,944 (GRCm39) |
A7196S |
probably damaging |
Het |
Mroh2b |
T |
A |
15: 4,964,782 (GRCm39) |
S926T |
probably damaging |
Het |
Nbn |
G |
T |
4: 15,981,555 (GRCm39) |
R549I |
probably damaging |
Het |
Nfu1 |
T |
C |
6: 86,996,400 (GRCm39) |
I117T |
probably damaging |
Het |
Or51f1 |
T |
C |
7: 102,506,139 (GRCm39) |
T117A |
probably benign |
Het |
Or7a39 |
A |
G |
10: 78,715,155 (GRCm39) |
T50A |
probably benign |
Het |
Parp1 |
T |
C |
1: 180,422,275 (GRCm39) |
L778P |
probably damaging |
Het |
Pbld2 |
G |
T |
10: 62,888,069 (GRCm39) |
V125F |
probably benign |
Het |
Prkag2 |
A |
G |
5: 25,085,680 (GRCm39) |
|
probably null |
Het |
Prss54 |
A |
G |
8: 96,286,351 (GRCm39) |
F241L |
probably benign |
Het |
Rnf121 |
T |
C |
7: 101,678,316 (GRCm39) |
D177G |
probably damaging |
Het |
Slc12a7 |
G |
A |
13: 73,933,241 (GRCm39) |
V100I |
probably benign |
Het |
Slc28a1 |
C |
T |
7: 80,774,719 (GRCm39) |
L189F |
possibly damaging |
Het |
Slc35a3 |
T |
C |
3: 116,488,219 (GRCm39) |
Q16R |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,686,577 (GRCm39) |
F354L |
probably damaging |
Het |
Steap2 |
A |
G |
5: 5,723,539 (GRCm39) |
I447T |
probably benign |
Het |
Tagap |
T |
A |
17: 8,147,602 (GRCm39) |
I104N |
probably damaging |
Het |
Tas1r2 |
A |
G |
4: 139,387,318 (GRCm39) |
D259G |
probably benign |
Het |
Tgm3 |
T |
C |
2: 129,886,452 (GRCm39) |
S558P |
probably benign |
Het |
Tuba3a |
A |
G |
6: 125,258,018 (GRCm39) |
V324A |
probably damaging |
Het |
Vmn1r238 |
T |
G |
18: 3,123,232 (GRCm39) |
I61L |
possibly damaging |
Het |
Vmn1r52 |
A |
G |
6: 90,156,451 (GRCm39) |
T252A |
probably benign |
Het |
Vmp1 |
A |
G |
11: 86,492,885 (GRCm39) |
V308A |
probably damaging |
Het |
Wdfy4 |
A |
C |
14: 32,874,611 (GRCm39) |
V159G |
|
Het |
Zfp180 |
A |
G |
7: 23,804,687 (GRCm39) |
T369A |
possibly damaging |
Het |
Zfp827 |
A |
G |
8: 79,755,316 (GRCm39) |
M1V |
probably null |
Het |
Zmym4 |
A |
G |
4: 126,787,198 (GRCm39) |
I1031T |
probably damaging |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGCATTCACCACAGGCAAG -3'
(R):5'- TACTATCATAACTGGGGAGGGG -3'
Sequencing Primer
(F):5'- AGGCCCATGGTTCTGAACAG -3'
(R):5'- GGACTGTCAGAATGACCCTC -3'
|
Posted On |
2021-03-08 |