Incidental Mutation 'R8559:Clcn6'
| ID |
660913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn6
|
| Ensembl Gene |
ENSMUSG00000029016 |
| Gene Name |
chloride channel, voltage-sensitive 6 |
| Synonyms |
|
| MMRRC Submission |
068522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R8559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 148111032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 102
(V102M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000131232]
[ENSMUST00000137724]
|
| AlphaFold |
O35454 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030879
AA Change: V102M
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: V102M
| 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: V102M
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: V102M
| 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: ENSMUST00000131232
|
| SMART Domains |
Protein: ENSMUSP00000116153
Gene: ENSMUSG00000029016
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137724
AA Change: V102M
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: V102M
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
T |
A |
10: 89,568,048 (GRCm39) |
H19L |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,784,117 (GRCm39) |
V1579E |
probably benign |
Het |
| Arhgap40 |
C |
T |
2: 158,383,721 (GRCm39) |
R435C |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,078,897 (GRCm39) |
D207G |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,964,273 (GRCm39) |
N948S |
probably benign |
Het |
| Calcr |
G |
A |
6: 3,692,603 (GRCm39) |
P417L |
probably damaging |
Het |
| Ccn2 |
CCCGCCAACCGC |
CCCGC |
10: 24,471,966 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
A |
2: 155,834,656 (GRCm39) |
S2194T |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,269,647 (GRCm39) |
S396P |
probably benign |
Het |
| Col28a1 |
C |
A |
6: 8,166,681 (GRCm39) |
R265L |
unknown |
Het |
| Cpa6 |
C |
T |
1: 10,478,574 (GRCm39) |
W254* |
probably null |
Het |
| Crtc2 |
T |
A |
3: 90,170,904 (GRCm39) |
M659K |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,764,299 (GRCm39) |
Y3020C |
probably damaging |
Het |
| Dok2 |
C |
A |
14: 71,014,968 (GRCm39) |
H232N |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,694,169 (GRCm39) |
E834G |
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,872,502 (GRCm39) |
|
probably null |
Het |
| Epx |
T |
A |
11: 87,755,618 (GRCm39) |
I689F |
probably damaging |
Het |
| Exd2 |
G |
A |
12: 80,522,631 (GRCm39) |
R30H |
probably benign |
Het |
| Gja1 |
T |
C |
10: 56,264,304 (GRCm39) |
L221P |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gm8439 |
T |
A |
4: 120,458,008 (GRCm39) |
W50R |
unknown |
Het |
| Greb1 |
T |
A |
12: 16,746,436 (GRCm39) |
D1278V |
probably damaging |
Het |
| Grin3a |
C |
A |
4: 49,770,555 (GRCm39) |
C739F |
probably damaging |
Het |
| Gucy2g |
C |
A |
19: 55,198,786 (GRCm39) |
V786F |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,551,789 (GRCm39) |
T2605I |
probably benign |
Het |
| Hmgxb3 |
T |
A |
18: 61,288,491 (GRCm39) |
T459S |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,921 (GRCm39) |
H1469R |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,530,884 (GRCm39) |
I407V |
probably benign |
Het |
| Inppl1 |
G |
T |
7: 101,478,834 (GRCm39) |
S555* |
probably null |
Het |
| Krt8 |
T |
C |
15: 101,909,979 (GRCm39) |
M142V |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,932,075 (GRCm39) |
N1049I |
possibly damaging |
Het |
| Megf10 |
G |
A |
18: 57,373,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Mei4 |
A |
T |
9: 81,907,684 (GRCm39) |
H338L |
probably benign |
Het |
| Mfsd2b |
T |
C |
12: 4,921,471 (GRCm39) |
T33A |
possibly damaging |
Het |
| Mgat3 |
A |
T |
15: 80,096,370 (GRCm39) |
Y399F |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,950 (GRCm39) |
T414I |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,754,715 (GRCm38) |
S1530P |
unknown |
Het |
| Myl4 |
T |
C |
11: 104,474,930 (GRCm39) |
V93A |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,982,628 (GRCm39) |
S1627R |
possibly damaging |
Het |
| Narf |
T |
G |
11: 121,141,258 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
C |
12: 13,402,809 (GRCm39) |
I788L |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,783,146 (GRCm39) |
S104P |
probably benign |
Het |
| Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
| Or4a68 |
T |
A |
2: 89,270,528 (GRCm39) |
I32F |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,527 (GRCm39) |
I193L |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,058,988 (GRCm39) |
V109A |
probably benign |
Het |
| Ppp4r4 |
A |
T |
12: 103,559,420 (GRCm39) |
T534S |
probably benign |
Het |
| Prg3 |
A |
G |
2: 84,819,680 (GRCm39) |
E58G |
probably benign |
Het |
| Prima1 |
A |
G |
12: 103,163,512 (GRCm39) |
V153A |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,419,784 (GRCm39) |
Y443N |
probably damaging |
Het |
| Rpgrip1 |
T |
C |
14: 52,386,714 (GRCm39) |
S882P |
unknown |
Het |
| Scn1a |
T |
A |
2: 66,118,077 (GRCm39) |
D412V |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,427,975 (GRCm39) |
T180A |
probably damaging |
Het |
| Suox |
A |
G |
10: 128,506,600 (GRCm39) |
L476P |
probably damaging |
Het |
| Tas2r104 |
T |
C |
6: 131,662,388 (GRCm39) |
Y107C |
probably damaging |
Het |
| Tubg2 |
T |
C |
11: 101,047,610 (GRCm39) |
V65A |
probably damaging |
Het |
| Ubn1 |
T |
C |
16: 4,882,634 (GRCm39) |
V365A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,646 (GRCm39) |
M807V |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,815,480 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Vps13b |
A |
T |
15: 35,876,788 (GRCm39) |
I2814F |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,214,815 (GRCm39) |
Y108H |
probably damaging |
Het |
| Wdr6 |
T |
A |
9: 108,452,593 (GRCm39) |
E430V |
probably benign |
Het |
| Zfp619 |
T |
A |
7: 39,186,559 (GRCm39) |
V863E |
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 |
|
|
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 |
|
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'- GAATTCTTTGCCGCCAACCC -3'
(R):5'- ATCTCTCAGCCAGCGTGACTAG -3'
Sequencing Primer
(F):5'- CATACGATGAGTTTGAGTCCAGCC -3'
(R):5'- CAGCGTGACTAGCAGAGTTTACTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation