Incidental Mutation 'R1706:Clcn6'
| ID |
190064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn6
|
| Ensembl Gene |
ENSMUSG00000029016 |
| Gene Name |
chloride channel, voltage-sensitive 6 |
| Synonyms |
|
| MMRRC Submission |
039739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1706 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 148102025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 353
(T353I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
| AlphaFold |
O35454 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030879
AA Change: T350I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: T350I
| 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: T353I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: T353I
| 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: T353I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: T353I
| 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 |
0.2048 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (60/60) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,624,059 (GRCm39) |
|
probably benign |
Het |
| 4931406C07Rik |
G |
A |
9: 15,209,153 (GRCm39) |
T47I |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,868,865 (GRCm39) |
N558I |
probably damaging |
Het |
| Ago3 |
G |
A |
4: 126,264,085 (GRCm39) |
P374S |
probably damaging |
Het |
| Ak8 |
T |
C |
2: 28,650,007 (GRCm39) |
C345R |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,868,922 (GRCm39) |
E84G |
possibly damaging |
Het |
| Cav1 |
T |
C |
6: 17,339,181 (GRCm39) |
F89L |
probably damaging |
Het |
| Cfap206 |
G |
A |
4: 34,688,875 (GRCm39) |
P593L |
probably damaging |
Het |
| Cstl1 |
G |
A |
2: 148,593,079 (GRCm39) |
|
probably null |
Het |
| Cyp2d10 |
A |
C |
15: 82,289,783 (GRCm39) |
S140A |
probably damaging |
Het |
| D130052B06Rik |
G |
A |
11: 33,566,230 (GRCm39) |
R18H |
unknown |
Het |
| Ddi2 |
A |
G |
4: 141,411,308 (GRCm39) |
F535L |
probably benign |
Het |
| Dop1a |
C |
T |
9: 86,436,133 (GRCm39) |
T2383M |
possibly damaging |
Het |
| Duox1 |
A |
G |
2: 122,149,953 (GRCm39) |
T115A |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 64,020,272 (GRCm39) |
|
probably benign |
Het |
| Gm7052 |
A |
G |
17: 22,258,823 (GRCm39) |
|
probably benign |
Het |
| Gm9925 |
G |
A |
18: 74,198,573 (GRCm39) |
|
probably benign |
Het |
| Gnas |
T |
A |
2: 174,141,768 (GRCm39) |
S646T |
possibly damaging |
Het |
| Gpatch3 |
T |
A |
4: 133,302,484 (GRCm39) |
C138* |
probably null |
Het |
| Igsf8 |
C |
T |
1: 172,144,972 (GRCm39) |
R100C |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,135,959 (GRCm39) |
K652R |
possibly damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,074,167 (GRCm39) |
V77E |
probably damaging |
Het |
| Kif13b |
T |
A |
14: 64,998,115 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
T |
C |
16: 95,977,164 (GRCm39) |
N214S |
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,188,582 (GRCm39) |
|
probably benign |
Het |
| Lypd3 |
T |
C |
7: 24,339,755 (GRCm39) |
I274T |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,264,377 (GRCm39) |
|
probably null |
Het |
| Mchr1 |
A |
G |
15: 81,121,364 (GRCm39) |
Y38C |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,191,552 (GRCm39) |
L716* |
probably null |
Het |
| Mki67 |
A |
G |
7: 135,302,295 (GRCm39) |
L913P |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,013,191 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
A |
G |
7: 99,472,563 (GRCm39) |
L58P |
probably damaging |
Het |
| Or4p23 |
G |
A |
2: 88,576,482 (GRCm39) |
P250L |
probably damaging |
Het |
| Or8h9 |
A |
T |
2: 86,789,424 (GRCm39) |
I126N |
probably damaging |
Het |
| Pak1ip1 |
T |
C |
13: 41,166,164 (GRCm39) |
V363A |
probably benign |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,705 (GRCm39) |
D555G |
probably benign |
Het |
| Pygb |
G |
A |
2: 150,669,067 (GRCm39) |
G671D |
probably damaging |
Het |
| Rab30 |
A |
T |
7: 92,478,875 (GRCm39) |
I79L |
possibly damaging |
Het |
| Rab44 |
C |
A |
17: 29,357,080 (GRCm39) |
T70K |
probably damaging |
Het |
| Rccd1 |
C |
G |
7: 79,970,411 (GRCm39) |
G69R |
possibly damaging |
Het |
| Sema5b |
T |
C |
16: 35,470,125 (GRCm39) |
V329A |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Slc22a14 |
T |
C |
9: 119,010,050 (GRCm39) |
N15S |
probably benign |
Het |
| Smurf2 |
G |
A |
11: 106,715,573 (GRCm39) |
H632Y |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tgm6 |
T |
C |
2: 129,987,079 (GRCm39) |
C516R |
possibly damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,734,021 (GRCm39) |
|
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,521,160 (GRCm39) |
N174S |
probably damaging |
Het |
| Ttc8 |
C |
A |
12: 98,910,142 (GRCm39) |
T123K |
probably benign |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,447 (GRCm39) |
M202K |
probably damaging |
Het |
| Vmn2r7 |
T |
A |
3: 64,598,880 (GRCm39) |
H559L |
possibly damaging |
Het |
| Zfp511 |
A |
G |
7: 139,617,192 (GRCm39) |
D96G |
probably benign |
Het |
| Zfp868 |
A |
G |
8: 70,065,060 (GRCm39) |
Y92H |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,154,735 (GRCm39) |
D633E |
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 |
|
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'- TTGGTCATGTGTGTCAGCAGAAGAG -3'
(R):5'- TCTTAAAAGCCCAGTGGGACAAGTG -3'
Sequencing Primer
(F):5'- TACAGGCTTAGTCTCAGGAGAAATC -3'
(R):5'- GGAAGGCAAGCATCTGCTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation