Incidental Mutation 'R2081:Clcn6'
| ID |
229470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn6
|
| Ensembl Gene |
ENSMUSG00000029016 |
| Gene Name |
chloride channel, voltage-sensitive 6 |
| Synonyms |
|
| MMRRC Submission |
040086-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2081 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148095525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 685
(Y685C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
| AlphaFold |
O35454 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030879
AA Change: Y682C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: Y682C
| 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 damaging
Transcript: ENSMUST00000105711
AA Change: Y685C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: Y685C
| 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: Y685C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: Y685C
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,211,085 (GRCm39) |
T28A |
possibly damaging |
Het |
| Actl11 |
G |
A |
9: 107,807,396 (GRCm39) |
G573D |
probably benign |
Het |
| Adam39 |
T |
A |
8: 41,279,879 (GRCm39) |
*757K |
probably null |
Het |
| Agpat4 |
T |
C |
17: 12,370,771 (GRCm39) |
I38T |
possibly damaging |
Het |
| Ap3d1 |
A |
C |
10: 80,568,770 (GRCm39) |
I36S |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,863,508 (GRCm39) |
F784L |
probably damaging |
Het |
| Atg5lrt |
T |
C |
10: 95,972,601 (GRCm39) |
I46T |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,092,955 (GRCm39) |
I430N |
probably damaging |
Het |
| Atrip |
T |
A |
9: 108,901,807 (GRCm39) |
|
probably null |
Het |
| C2cd4b |
G |
T |
9: 67,667,859 (GRCm39) |
R285L |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,228,699 (GRCm39) |
E711G |
probably benign |
Het |
| Col18a1 |
T |
A |
10: 76,890,019 (GRCm39) |
D1447V |
probably damaging |
Het |
| Crispld1 |
T |
A |
1: 17,832,403 (GRCm39) |
V463D |
probably damaging |
Het |
| Crybg2 |
T |
G |
4: 133,816,131 (GRCm39) |
F1612V |
possibly damaging |
Het |
| Dclk1 |
T |
C |
3: 55,429,346 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
G |
T |
13: 55,821,829 (GRCm39) |
V834L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,852,045 (GRCm39) |
D1734G |
possibly damaging |
Het |
| Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,041,275 (GRCm39) |
E301G |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,184,814 (GRCm39) |
C124Y |
probably benign |
Het |
| Eno2 |
A |
G |
6: 124,740,088 (GRCm39) |
V316A |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,823,426 (GRCm39) |
E820G |
possibly damaging |
Het |
| Evpl |
A |
T |
11: 116,125,092 (GRCm39) |
H123Q |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,200,503 (GRCm39) |
Y857F |
possibly damaging |
Het |
| Fbrsl1 |
T |
A |
5: 110,519,491 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
A |
G |
3: 84,881,820 (GRCm39) |
D432G |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,576,232 (GRCm39) |
L592Q |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,272 (GRCm39) |
C648S |
probably damaging |
Het |
| Gm5150 |
A |
T |
3: 16,045,109 (GRCm39) |
S39T |
probably benign |
Het |
| Gse1 |
C |
A |
8: 121,293,219 (GRCm39) |
P177Q |
probably damaging |
Het |
| Heatr4 |
G |
A |
12: 84,027,096 (GRCm39) |
R54W |
probably damaging |
Het |
| Hpgd |
C |
A |
8: 56,760,677 (GRCm39) |
Q125K |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Mast2 |
A |
T |
4: 116,187,671 (GRCm39) |
|
probably null |
Het |
| Mfsd11 |
A |
G |
11: 116,752,381 (GRCm39) |
T177A |
possibly damaging |
Het |
| Mlx |
T |
C |
11: 100,978,257 (GRCm39) |
S36P |
probably benign |
Het |
| Mlxipl |
T |
A |
5: 135,142,492 (GRCm39) |
V102D |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,536,150 (GRCm39) |
Y540H |
probably damaging |
Het |
| Msc |
T |
C |
1: 14,825,941 (GRCm39) |
D11G |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,574,020 (GRCm39) |
S699R |
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,405,881 (GRCm39) |
S1106P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,925,008 (GRCm39) |
E5703G |
possibly damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,313,405 (GRCm39) |
M161T |
probably benign |
Het |
| Pabpn1 |
A |
G |
14: 55,133,115 (GRCm39) |
K38E |
probably damaging |
Het |
| Padi3 |
A |
T |
4: 140,526,290 (GRCm39) |
L141Q |
probably damaging |
Het |
| Pakap |
G |
A |
4: 57,855,927 (GRCm39) |
E419K |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,122,657 (GRCm39) |
N742D |
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,674,132 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
T |
C |
5: 104,608,077 (GRCm39) |
V192A |
probably benign |
Het |
| Ppp6r2 |
T |
A |
15: 89,166,332 (GRCm39) |
M750K |
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,604,980 (GRCm39) |
Y783* |
probably null |
Het |
| Prox2 |
T |
A |
12: 85,141,782 (GRCm39) |
Q140H |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,290,883 (GRCm39) |
I440K |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,496,383 (GRCm39) |
M283T |
probably benign |
Het |
| Sec23a |
G |
A |
12: 59,045,067 (GRCm39) |
Q192* |
probably null |
Het |
| Sh2b1 |
A |
G |
7: 126,071,862 (GRCm39) |
S108P |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tkfc |
G |
A |
19: 10,574,742 (GRCm39) |
A166V |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
| Trim47 |
A |
G |
11: 115,997,239 (GRCm39) |
F505S |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,641,337 (GRCm39) |
F154L |
possibly damaging |
Het |
| Ubap2l |
C |
T |
3: 89,946,271 (GRCm39) |
G111D |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,381,277 (GRCm39) |
I848N |
possibly damaging |
Het |
| Veph1 |
T |
C |
3: 65,968,523 (GRCm39) |
Y740C |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,083 (GRCm39) |
H799L |
possibly damaging |
Het |
| Wdr31 |
T |
A |
4: 62,374,180 (GRCm39) |
M270L |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,347,913 (GRCm39) |
S884P |
probably benign |
Het |
| Zswim6 |
T |
A |
13: 107,909,930 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- ATGGTCCAGTCTTCACTCGG -3'
(R):5'- TCTTGCAGACAGACCTCCATG -3'
Sequencing Primer
(F):5'- AGTCTTCACTCGGGGACTG -3'
(R):5'- GACCTCCATGAAAAGTACTGTTC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation