Incidental Mutation 'R9343:Clcn6'
ID |
715971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcn6
|
Ensembl Gene |
ENSMUSG00000029016 |
Gene Name |
chloride channel, voltage-sensitive 6 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R9343 (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 G
at 148098458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 519
(S519P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
AlphaFold |
O35454 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030879
AA Change: S519P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000030879 Gene: ENSMUSG00000029016 AA Change: S519P
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: S522P
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000101336 Gene: ENSMUSG00000029016 AA Change: S522P
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: S522P
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000121751 Gene: ENSMUSG00000029016 AA Change: S522P
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: 98.7%
|
Validation Efficiency |
100% (45/45) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
A |
G |
2: 103,547,505 (GRCm39) |
I960V |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,742,079 (GRCm39) |
D632G |
probably benign |
Het |
Aplp2 |
A |
T |
9: 31,122,935 (GRCm39) |
L30Q |
unknown |
Het |
Axl |
A |
T |
7: 25,473,544 (GRCm39) |
Y361N |
probably damaging |
Het |
Brinp2 |
A |
T |
1: 158,077,090 (GRCm39) |
|
probably benign |
Het |
Bsn |
T |
C |
9: 107,992,701 (GRCm39) |
D1017G |
probably damaging |
Het |
Cc2d2a |
A |
T |
5: 43,875,999 (GRCm39) |
D1046V |
probably damaging |
Het |
Cdc42bpg |
G |
A |
19: 6,364,553 (GRCm39) |
G594S |
probably damaging |
Het |
Cnot2 |
T |
G |
10: 116,346,326 (GRCm39) |
H92P |
|
Het |
Col2a1 |
T |
C |
15: 97,877,775 (GRCm39) |
D1049G |
probably damaging |
Het |
Creld1 |
C |
T |
6: 113,466,728 (GRCm39) |
A237V |
probably benign |
Het |
Csf2rb2 |
A |
T |
15: 78,171,287 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
G |
A |
15: 48,015,001 (GRCm39) |
T643I |
probably damaging |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fcmr |
A |
T |
1: 130,802,072 (GRCm39) |
T109S |
|
Het |
Grap |
C |
A |
11: 61,562,551 (GRCm39) |
P174Q |
possibly damaging |
Het |
Itgb5 |
T |
A |
16: 33,730,826 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
A |
G |
12: 25,058,078 (GRCm39) |
N561S |
probably damaging |
Het |
Mri1 |
A |
T |
8: 84,983,796 (GRCm39) |
S32T |
probably benign |
Het |
Mrtfb |
T |
C |
16: 13,218,791 (GRCm39) |
V479A |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,569,971 (GRCm39) |
T344S |
possibly damaging |
Het |
Npc1 |
A |
G |
18: 12,334,769 (GRCm39) |
I661T |
possibly damaging |
Het |
Npy1r |
A |
G |
8: 67,156,751 (GRCm39) |
N57S |
probably damaging |
Het |
Pds5b |
A |
G |
5: 150,704,186 (GRCm39) |
D863G |
probably damaging |
Het |
Phf14 |
T |
A |
6: 11,961,563 (GRCm39) |
V400D |
probably damaging |
Het |
Polr2l |
A |
G |
7: 141,053,246 (GRCm39) |
I56T |
probably benign |
Het |
Ppat |
A |
G |
5: 77,063,884 (GRCm39) |
I422T |
probably benign |
Het |
Prkcg |
T |
A |
7: 3,359,124 (GRCm39) |
S110R |
possibly damaging |
Het |
Rab7b |
A |
T |
1: 131,639,540 (GRCm39) |
|
probably benign |
Het |
Rnf152 |
A |
T |
1: 105,212,251 (GRCm39) |
L102Q |
|
Het |
Samd12 |
A |
G |
15: 53,583,088 (GRCm39) |
V82A |
probably damaging |
Het |
Serpina1e |
T |
A |
12: 103,917,299 (GRCm39) |
R123S |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,615,737 (GRCm39) |
N794I |
probably damaging |
Het |
Surf6 |
T |
C |
2: 26,783,006 (GRCm39) |
K154R |
probably damaging |
Het |
Tln2 |
C |
T |
9: 67,230,353 (GRCm39) |
A71T |
probably benign |
Het |
Trim3 |
A |
G |
7: 105,260,673 (GRCm39) |
Y649H |
probably benign |
Het |
Ttll7 |
T |
A |
3: 146,667,497 (GRCm39) |
W808R |
probably damaging |
Het |
Tvp23a |
T |
C |
16: 10,245,287 (GRCm39) |
D104G |
probably damaging |
Het |
Upp2 |
A |
G |
2: 58,645,339 (GRCm39) |
|
probably benign |
Het |
Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
Vmn1r119 |
A |
G |
7: 20,746,358 (GRCm39) |
V8A |
probably benign |
Het |
Vmn1r209 |
T |
A |
13: 22,990,546 (GRCm39) |
H48L |
probably damaging |
Het |
Wdr11 |
T |
C |
7: 129,232,523 (GRCm39) |
|
probably null |
Het |
Zcchc17 |
T |
C |
4: 130,210,546 (GRCm39) |
D207G |
probably damaging |
Het |
Zfp78 |
T |
C |
7: 6,381,942 (GRCm39) |
S331P |
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 |
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 |
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'- CTGAAGACAGGCCTTGAAGG -3'
(R):5'- TTTGGCACATCTGTCCCCAG -3'
Sequencing Primer
(F):5'- AGGCCTTGAAGGGAGCCTG -3'
(R):5'- CCTTCCCTGCTGTGTGGAG -3'
|
Posted On |
2022-06-15 |