Incidental Mutation 'R2021:Clcn6'
ID |
223968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcn6
|
Ensembl Gene |
ENSMUSG00000029016 |
Gene Name |
chloride channel, voltage-sensitive 6 |
Synonyms |
|
MMRRC Submission |
040030-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R2021 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 148095109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
AlphaFold |
O35454 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030879
|
SMART Domains |
Protein: ENSMUSP00000030879 Gene: ENSMUSG00000029016
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
|
SMART Domains |
Protein: ENSMUSP00000101336 Gene: ENSMUSG00000029016
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 null
Transcript: ENSMUST00000137724
|
SMART Domains |
Protein: ENSMUSP00000121751 Gene: ENSMUSG00000029016
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: 97.0%
- 20x: 94.2%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,035,450 (GRCm39) |
S316T |
probably damaging |
Het |
Alox8 |
C |
T |
11: 69,077,114 (GRCm39) |
V460I |
probably damaging |
Het |
Aoc1l2 |
T |
C |
6: 48,908,385 (GRCm39) |
S462P |
probably damaging |
Het |
Arvcf |
G |
A |
16: 18,218,482 (GRCm39) |
A491T |
probably damaging |
Het |
Asnsd1 |
A |
G |
1: 53,386,386 (GRCm39) |
S414P |
possibly damaging |
Het |
Btbd7 |
A |
G |
12: 102,756,968 (GRCm39) |
L706P |
probably damaging |
Het |
Camk2d |
T |
A |
3: 126,574,105 (GRCm39) |
W171R |
probably damaging |
Het |
Casc3 |
T |
A |
11: 98,712,332 (GRCm39) |
S124T |
probably benign |
Het |
Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
Ccdc182 |
T |
C |
11: 88,184,962 (GRCm39) |
V14A |
possibly damaging |
Het |
Ccdc80 |
A |
T |
16: 44,943,275 (GRCm39) |
Q795L |
probably damaging |
Het |
Ccdc88a |
T |
G |
11: 29,453,480 (GRCm39) |
S1614R |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,822,114 (GRCm39) |
A1170T |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,313,360 (GRCm39) |
V3070A |
probably benign |
Het |
Dst |
G |
A |
1: 34,205,372 (GRCm39) |
V1025I |
possibly damaging |
Het |
Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
Elk3 |
T |
A |
10: 93,101,539 (GRCm39) |
I71F |
probably damaging |
Het |
Flt3 |
A |
T |
5: 147,306,300 (GRCm39) |
I276N |
probably damaging |
Het |
Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
Golph3l |
T |
A |
3: 95,524,668 (GRCm39) |
D306E |
probably benign |
Het |
Grk2 |
T |
A |
19: 4,340,698 (GRCm39) |
I254F |
probably damaging |
Het |
Hgf |
C |
T |
5: 16,781,919 (GRCm39) |
T214I |
probably benign |
Het |
Hoxc5 |
C |
A |
15: 102,922,814 (GRCm39) |
|
probably null |
Het |
Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
Ipp |
A |
G |
4: 116,372,565 (GRCm39) |
Y198C |
probably benign |
Het |
Ism1 |
T |
A |
2: 139,582,047 (GRCm39) |
|
probably null |
Het |
Klhl42 |
A |
G |
6: 146,993,394 (GRCm39) |
Y122C |
possibly damaging |
Het |
Klk1b21 |
A |
T |
7: 43,755,418 (GRCm39) |
K206* |
probably null |
Het |
Lcn11 |
A |
G |
2: 25,668,097 (GRCm39) |
K85R |
probably benign |
Het |
Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
Matn4 |
A |
G |
2: 164,242,573 (GRCm39) |
V175A |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,082,545 (GRCm39) |
N1372Y |
probably damaging |
Het |
Ncl |
A |
G |
1: 86,284,677 (GRCm39) |
|
probably null |
Het |
Nudt2 |
A |
G |
4: 41,480,255 (GRCm39) |
D46G |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,958,000 (GRCm39) |
D3567N |
probably benign |
Het |
Or1j17 |
G |
C |
2: 36,578,487 (GRCm39) |
V158L |
probably benign |
Het |
Or2z9 |
G |
T |
8: 72,853,930 (GRCm39) |
V109F |
possibly damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
Ppm1h |
T |
A |
10: 122,714,433 (GRCm39) |
L324* |
probably null |
Het |
Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,494,873 (GRCm39) |
V748I |
probably benign |
Het |
Prss47 |
A |
G |
13: 65,199,591 (GRCm39) |
V96A |
probably benign |
Het |
Rsbn1 |
C |
T |
3: 103,821,789 (GRCm39) |
T8I |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCGGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Serpinb3d |
A |
G |
1: 107,006,182 (GRCm39) |
V302A |
probably benign |
Het |
Sfrp4 |
A |
T |
13: 19,816,496 (GRCm39) |
I177F |
probably benign |
Het |
Sh3bp2 |
A |
G |
5: 34,701,569 (GRCm39) |
|
probably benign |
Het |
Slc7a12 |
A |
G |
3: 14,562,393 (GRCm39) |
T257A |
probably damaging |
Het |
Spata31e5 |
A |
T |
1: 28,817,234 (GRCm39) |
V266D |
probably damaging |
Het |
Specc1l |
T |
C |
10: 75,103,425 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
G |
2: 120,534,716 (GRCm39) |
T3658A |
probably benign |
Het |
Styxl2 |
A |
T |
1: 165,928,392 (GRCm39) |
W407R |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,101,725 (GRCm39) |
T68A |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,679,592 (GRCm39) |
I189V |
probably benign |
Het |
Trrap |
A |
G |
5: 144,790,298 (GRCm39) |
N3586S |
possibly damaging |
Het |
Usp14 |
T |
C |
18: 10,024,632 (GRCm39) |
T22A |
probably damaging |
Het |
Vmn1r68 |
A |
G |
7: 10,261,918 (GRCm39) |
L60P |
probably damaging |
Het |
Vmn2r108 |
G |
A |
17: 20,691,252 (GRCm39) |
H424Y |
probably benign |
Het |
Wdr81 |
C |
A |
11: 75,336,788 (GRCm39) |
E1534* |
probably null |
Het |
Zc3h13 |
A |
G |
14: 75,567,635 (GRCm39) |
E976G |
probably damaging |
Het |
Zfp128 |
T |
C |
7: 12,623,956 (GRCm39) |
L108P |
possibly damaging |
Het |
Zfp644 |
T |
C |
5: 106,783,548 (GRCm39) |
I1000V |
possibly 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 |
|
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'- ACAGCTGGAGTCAACTTGC -3'
(R):5'- CCTTGTTGCTGGAGAGTACG -3'
Sequencing Primer
(F):5'- GGAGTCAACTTGCCCTCAC -3'
(R):5'- ATACGAGGCAGCGTCTGG -3'
|
Posted On |
2014-08-25 |