Incidental Mutation 'R0352:Clcn6'
ID |
29695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcn6
|
Ensembl Gene |
ENSMUSG00000029016 |
Gene Name |
chloride channel, voltage-sensitive 6 |
Synonyms |
|
MMRRC Submission |
038558-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R0352 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 148099063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 427
(S427P)
|
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: S424P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030879 Gene: ENSMUSG00000029016 AA Change: S424P
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 |
possibly damaging
Transcript: ENSMUST00000105711
AA Change: S427P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101336 Gene: ENSMUSG00000029016 AA Change: S427P
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: S427P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000121751 Gene: ENSMUSG00000029016 AA Change: S427P
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 |
0.1596 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.4%
- 20x: 90.0%
|
Validation Efficiency |
100% (70/70) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
T |
12: 71,184,804 (GRCm39) |
T64M |
possibly damaging |
Het |
3110040N11Rik |
G |
T |
7: 81,438,208 (GRCm39) |
N49K |
probably benign |
Het |
Adrb1 |
T |
A |
19: 56,711,293 (GRCm39) |
F164I |
probably damaging |
Het |
Aplf |
C |
T |
6: 87,630,866 (GRCm39) |
V190I |
probably benign |
Het |
Aqr |
A |
G |
2: 114,000,533 (GRCm39) |
Y50H |
probably damaging |
Het |
Arfgef3 |
A |
C |
10: 18,537,135 (GRCm39) |
I182R |
probably benign |
Het |
Cacna1b |
G |
A |
2: 24,515,244 (GRCm39) |
|
probably benign |
Het |
Casp9 |
A |
G |
4: 141,532,841 (GRCm39) |
T246A |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,761,846 (GRCm39) |
N556S |
possibly damaging |
Het |
Cntnap2 |
G |
A |
6: 45,969,018 (GRCm39) |
|
probably null |
Het |
Col11a2 |
T |
G |
17: 34,261,501 (GRCm39) |
V120G |
probably benign |
Het |
Cux2 |
A |
C |
5: 122,022,802 (GRCm39) |
|
probably benign |
Het |
Dmrt2 |
T |
C |
19: 25,656,026 (GRCm39) |
S542P |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,316,286 (GRCm39) |
H3133R |
probably damaging |
Het |
Drosha |
G |
A |
15: 12,837,374 (GRCm39) |
R286Q |
unknown |
Het |
Eipr1 |
A |
G |
12: 28,816,784 (GRCm39) |
D47G |
probably damaging |
Het |
Fras1 |
T |
G |
5: 96,874,399 (GRCm39) |
Y2275D |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,670,865 (GRCm39) |
|
probably benign |
Het |
Hebp1 |
A |
G |
6: 135,129,918 (GRCm39) |
V100A |
possibly damaging |
Het |
Hivep2 |
G |
A |
10: 14,019,039 (GRCm39) |
V1937I |
possibly damaging |
Het |
Hs3st6 |
T |
C |
17: 24,977,168 (GRCm39) |
V216A |
probably damaging |
Het |
Hsd17b4 |
T |
C |
18: 50,324,851 (GRCm39) |
I688T |
probably benign |
Het |
Hydin |
T |
C |
8: 111,296,533 (GRCm39) |
|
probably null |
Het |
Iws1 |
A |
G |
18: 32,217,258 (GRCm39) |
E426G |
probably damaging |
Het |
Klrb1f |
T |
C |
6: 129,030,680 (GRCm39) |
S64P |
probably damaging |
Het |
Lacc1 |
C |
T |
14: 77,272,629 (GRCm39) |
G56R |
probably damaging |
Het |
Lcmt2 |
A |
G |
2: 120,969,377 (GRCm39) |
S569P |
probably benign |
Het |
Lipm |
C |
T |
19: 34,090,275 (GRCm39) |
|
probably benign |
Het |
Lum |
A |
G |
10: 97,404,471 (GRCm39) |
H122R |
probably damaging |
Het |
Magi2 |
A |
G |
5: 20,270,664 (GRCm39) |
Y15C |
probably damaging |
Het |
Mal |
A |
T |
2: 127,482,286 (GRCm39) |
I39N |
probably damaging |
Het |
Mgme1 |
A |
G |
2: 144,118,319 (GRCm39) |
H197R |
probably benign |
Het |
Mmrn1 |
A |
T |
6: 60,921,955 (GRCm39) |
K137N |
probably benign |
Het |
Myh3 |
T |
A |
11: 66,981,254 (GRCm39) |
C706S |
possibly damaging |
Het |
Myo18b |
A |
T |
5: 113,022,389 (GRCm39) |
|
probably benign |
Het |
Myom1 |
A |
G |
17: 71,352,744 (GRCm39) |
E356G |
possibly damaging |
Het |
Nfib |
A |
G |
4: 82,422,954 (GRCm39) |
|
probably benign |
Het |
Npc1l1 |
T |
C |
11: 6,173,076 (GRCm39) |
M788V |
probably benign |
Het |
Or9a2 |
C |
T |
6: 41,749,058 (GRCm39) |
M58I |
probably damaging |
Het |
Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,525,617 (GRCm39) |
|
probably benign |
Het |
Polr1a |
G |
T |
6: 71,897,747 (GRCm39) |
|
probably benign |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Pramel20 |
A |
T |
4: 143,297,878 (GRCm39) |
|
probably benign |
Het |
Pramel21 |
A |
T |
4: 143,342,559 (GRCm39) |
D222V |
possibly damaging |
Het |
Prmt2 |
A |
T |
10: 76,044,337 (GRCm39) |
V405D |
possibly damaging |
Het |
Psg26 |
T |
A |
7: 18,209,181 (GRCm39) |
Y409F |
probably benign |
Het |
Psme3ip1 |
A |
G |
8: 95,314,639 (GRCm39) |
F73S |
probably damaging |
Het |
Ptges |
G |
T |
2: 30,793,144 (GRCm39) |
Y29* |
probably null |
Het |
Ptrhd1 |
A |
G |
12: 4,286,399 (GRCm39) |
T97A |
probably benign |
Het |
Ripk3 |
T |
A |
14: 56,024,200 (GRCm39) |
|
probably benign |
Het |
Rnf114 |
A |
T |
2: 167,353,136 (GRCm39) |
I136F |
probably benign |
Het |
Serinc5 |
A |
G |
13: 92,844,497 (GRCm39) |
|
probably null |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc23a2 |
C |
A |
2: 131,902,716 (GRCm39) |
M495I |
probably benign |
Het |
Slc52a3 |
T |
A |
2: 151,849,433 (GRCm39) |
L360* |
probably null |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Syt5 |
A |
G |
7: 4,544,170 (GRCm39) |
V290A |
probably benign |
Het |
Szt2 |
G |
A |
4: 118,239,790 (GRCm39) |
A1931V |
unknown |
Het |
Tasp1 |
A |
G |
2: 139,793,378 (GRCm39) |
|
probably null |
Het |
Tcp10a |
C |
A |
17: 7,593,805 (GRCm39) |
D43E |
probably damaging |
Het |
Tnfsf11 |
A |
T |
14: 78,516,408 (GRCm39) |
Y187N |
probably benign |
Het |
Tppp2 |
T |
A |
14: 52,156,807 (GRCm39) |
N61K |
possibly damaging |
Het |
Wwtr1 |
A |
T |
3: 57,482,548 (GRCm39) |
W100R |
probably damaging |
Het |
Zfp623 |
A |
G |
15: 75,820,433 (GRCm39) |
D463G |
probably benign |
Het |
Zfp990 |
A |
G |
4: 145,263,174 (GRCm39) |
I57M |
probably damaging |
Het |
Zmat5 |
G |
A |
11: 4,672,413 (GRCm39) |
C10Y |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGTTGCAGAGAGATGCCTGAGAG -3'
(R):5'- TCACCCACATTGTTTGAGTCCACAC -3'
Sequencing Primer
(F):5'- GATGCCTGAGAGGCAGC -3'
(R):5'- CCACGGCAGATGTGTACTTG -3'
|
Posted On |
2013-04-24 |