Incidental Mutation 'R7440:Clcn6'
ID |
576880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcn6
|
Ensembl Gene |
ENSMUSG00000029016 |
Gene Name |
chloride channel, voltage-sensitive 6 |
Synonyms |
|
MMRRC Submission |
045516-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R7440 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 148098652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 489
(L489H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
AlphaFold |
O35454 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030879
AA Change: L489H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030879 Gene: ENSMUSG00000029016 AA Change: L489H
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: L492H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101336 Gene: ENSMUSG00000029016 AA Change: L492H
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: L492H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121751 Gene: ENSMUSG00000029016 AA Change: L492H
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 |
0.9673 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (69/69) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
G |
A |
3: 153,628,626 (GRCm39) |
T403I |
probably damaging |
Het |
Adat1 |
A |
T |
8: 112,716,530 (GRCm39) |
M64K |
probably damaging |
Het |
Adcy2 |
C |
T |
13: 68,944,786 (GRCm39) |
V199M |
probably damaging |
Het |
Ankrd13a |
T |
C |
5: 114,941,636 (GRCm39) |
S508P |
possibly damaging |
Het |
Ap1g1 |
T |
A |
8: 110,529,356 (GRCm39) |
|
probably null |
Het |
Bicral |
C |
T |
17: 47,136,710 (GRCm39) |
G167R |
probably damaging |
Het |
Ccser2 |
T |
C |
14: 36,620,174 (GRCm39) |
K727E |
possibly damaging |
Het |
Cep350 |
T |
G |
1: 155,816,518 (GRCm39) |
K332N |
probably damaging |
Het |
Cfap68 |
A |
G |
9: 50,676,213 (GRCm39) |
V35A |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,469,108 (GRCm39) |
N1811S |
probably benign |
Het |
Chpf |
A |
T |
1: 75,452,245 (GRCm39) |
V565D |
probably damaging |
Het |
Cntln |
C |
A |
4: 84,981,453 (GRCm39) |
T877K |
possibly damaging |
Het |
Cog4 |
T |
C |
8: 111,606,338 (GRCm39) |
V630A |
probably benign |
Het |
Col6a5 |
G |
T |
9: 105,758,630 (GRCm39) |
S2192* |
probably null |
Het |
Cry2 |
G |
A |
2: 92,243,983 (GRCm39) |
R397W |
probably damaging |
Het |
Cstdc2 |
A |
C |
2: 148,688,911 (GRCm39) |
C109W |
probably damaging |
Het |
Cyp1b1 |
T |
C |
17: 80,020,986 (GRCm39) |
N252S |
probably damaging |
Het |
Dhx9 |
T |
C |
1: 153,356,977 (GRCm39) |
I91V |
probably benign |
Het |
Dnajb6 |
G |
A |
5: 29,962,857 (GRCm39) |
A256T |
possibly damaging |
Het |
Epm2a |
T |
G |
10: 11,266,619 (GRCm39) |
Y121* |
probably null |
Het |
Erlec1 |
T |
C |
11: 30,900,818 (GRCm39) |
I117V |
possibly damaging |
Het |
Exoc8 |
T |
C |
8: 125,622,520 (GRCm39) |
M616V |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
Fuz |
T |
C |
7: 44,545,996 (GRCm39) |
L46P |
probably damaging |
Het |
Insc |
T |
C |
7: 114,444,278 (GRCm39) |
S422P |
possibly damaging |
Het |
Intu |
A |
G |
3: 40,651,981 (GRCm39) |
I813V |
probably benign |
Het |
Jak3 |
T |
A |
8: 72,133,362 (GRCm39) |
S352T |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
Lrrc63 |
T |
C |
14: 75,358,453 (GRCm39) |
N400D |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,940,602 (GRCm39) |
D760G |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,349,239 (GRCm39) |
L3976* |
probably null |
Het |
Map7 |
C |
T |
10: 20,137,605 (GRCm39) |
A259V |
probably damaging |
Het |
Meioc |
T |
A |
11: 102,565,063 (GRCm39) |
D170E |
possibly damaging |
Het |
Mgat5b |
T |
A |
11: 116,859,271 (GRCm39) |
Y34* |
probably null |
Het |
Mgst1 |
A |
G |
6: 138,127,842 (GRCm39) |
K68R |
probably benign |
Het |
Miga1 |
T |
A |
3: 152,043,683 (GRCm39) |
|
probably null |
Het |
Mrps33 |
G |
A |
6: 39,779,413 (GRCm39) |
P94L |
probably damaging |
Het |
Ncapg2 |
G |
T |
12: 116,414,033 (GRCm39) |
G1068C |
possibly damaging |
Het |
Ndufaf7 |
C |
T |
17: 79,249,546 (GRCm39) |
H148Y |
probably damaging |
Het |
Nkx6-3 |
A |
T |
8: 23,643,770 (GRCm39) |
D57V |
probably damaging |
Het |
Nlrp1a |
T |
C |
11: 70,983,150 (GRCm39) |
D1272G |
probably damaging |
Het |
Oit3 |
T |
C |
10: 59,265,392 (GRCm39) |
N291S |
probably damaging |
Het |
Or1b1 |
A |
T |
2: 36,995,181 (GRCm39) |
H160Q |
possibly damaging |
Het |
Pld1 |
T |
G |
3: 28,095,419 (GRCm39) |
S251A |
probably benign |
Het |
Polr1h |
T |
A |
17: 37,268,736 (GRCm39) |
L75F |
probably benign |
Het |
Potefam3a |
C |
T |
8: 20,356,948 (GRCm38) |
S254N |
unknown |
Het |
Ppfibp1 |
T |
C |
6: 146,921,001 (GRCm39) |
S580P |
probably benign |
Het |
Prdx6b |
A |
T |
2: 80,123,560 (GRCm39) |
D123V |
probably damaging |
Het |
Ptprs |
A |
G |
17: 56,731,256 (GRCm39) |
L1050P |
possibly damaging |
Het |
Rcc1 |
A |
C |
4: 132,065,110 (GRCm39) |
S138A |
probably damaging |
Het |
Rimbp3 |
G |
T |
16: 17,031,065 (GRCm39) |
R1496S |
possibly damaging |
Het |
Sacs |
T |
C |
14: 61,429,054 (GRCm39) |
V371A |
probably benign |
Het |
Sfxn4 |
A |
G |
19: 60,830,642 (GRCm39) |
L260P |
possibly damaging |
Het |
Slc17a1 |
G |
A |
13: 24,062,466 (GRCm39) |
S211N |
possibly damaging |
Het |
Slc39a11 |
C |
T |
11: 113,452,918 (GRCm39) |
V8M |
probably damaging |
Het |
Smpd2 |
A |
G |
10: 41,365,012 (GRCm39) |
I78T |
probably benign |
Het |
Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
Syt17 |
A |
T |
7: 117,981,107 (GRCm39) |
V462E |
probably damaging |
Het |
Tlr11 |
T |
A |
14: 50,598,801 (GRCm39) |
D262E |
probably benign |
Het |
Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
Trpv3 |
C |
A |
11: 73,168,800 (GRCm39) |
Q87K |
probably benign |
Het |
Ugt1a5 |
T |
C |
1: 88,094,281 (GRCm39) |
Y170H |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,584,296 (GRCm39) |
L562P |
probably damaging |
Het |
Usp3 |
G |
T |
9: 66,437,537 (GRCm39) |
N299K |
probably benign |
Het |
Vmn1r83 |
T |
C |
7: 12,055,556 (GRCm39) |
Y167C |
probably damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,694,539 (GRCm39) |
Y436F |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,854,981 (GRCm39) |
I2220T |
|
Het |
Zfp936 |
T |
A |
7: 42,836,685 (GRCm39) |
V32D |
probably damaging |
Het |
Zswim2 |
A |
G |
2: 83,751,063 (GRCm39) |
C259R |
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 |
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'- TCCAATGTAGCTGGTTGAAGAG -3'
(R):5'- ATGCCAGAGGGTCACGTTTC -3'
Sequencing Primer
(F):5'- GAGAAACAGAGCCAGGCTTAGACTC -3'
(R):5'- TGGTGTGCAAAAGCCACC -3'
|
Posted On |
2019-10-07 |