Incidental Mutation 'R9246:Clcn6'
| ID |
701283 |
| 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 # |
R9246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148113866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 64
(V64E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000131232]
[ENSMUST00000137724]
|
| AlphaFold |
O35454 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030879
AA Change: V64E
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: V64E
| 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: V64E
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: V64E
| 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: V64E
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: V64E
| 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: 99.7%
- 20x: 98.9%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,279,961 (GRCm39) |
T314I |
probably benign |
Het |
| Abca7 |
G |
A |
10: 79,838,535 (GRCm39) |
S603N |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,786,882 (GRCm39) |
F168L |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,774,289 (GRCm39) |
T764A |
probably benign |
Het |
| Acot4 |
A |
C |
12: 84,090,097 (GRCm39) |
I265L |
probably benign |
Het |
| Adrb2 |
C |
A |
18: 62,312,226 (GRCm39) |
A200S |
probably damaging |
Het |
| Atp2c2 |
G |
T |
8: 120,456,989 (GRCm39) |
R197L |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,156,664 (GRCm39) |
T121A |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,804,016 (GRCm39) |
S2051R |
probably benign |
Het |
| Card10 |
T |
C |
15: 78,673,036 (GRCm39) |
E547G |
possibly damaging |
Het |
| Cbln1 |
A |
T |
8: 88,197,048 (GRCm39) |
I139N |
probably damaging |
Het |
| Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
| Cdh16 |
C |
T |
8: 105,344,602 (GRCm39) |
D510N |
probably benign |
Het |
| Cdh2 |
G |
A |
18: 16,781,654 (GRCm39) |
Q146* |
probably null |
Het |
| Cdhr1 |
T |
G |
14: 36,801,654 (GRCm39) |
K763T |
possibly damaging |
Het |
| Cfl1 |
G |
C |
19: 5,543,634 (GRCm39) |
G204R |
probably damaging |
Het |
| Col4a4 |
G |
A |
1: 82,430,956 (GRCm39) |
P1649S |
unknown |
Het |
| Ctnna1 |
T |
A |
18: 35,356,562 (GRCm39) |
N410K |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,937,162 (GRCm39) |
F845S |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,571,934 (GRCm39) |
N802K |
possibly damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,949,204 (GRCm39) |
S492P |
probably damaging |
Het |
| Fhit |
C |
A |
14: 10,421,494 (GRCm38) |
|
probably null |
Het |
| Fzd2 |
A |
T |
11: 102,496,749 (GRCm39) |
I398F |
possibly damaging |
Het |
| Gm9195 |
A |
G |
14: 72,710,314 (GRCm39) |
S457P |
probably benign |
Het |
| Gnao1 |
A |
G |
8: 94,676,967 (GRCm39) |
K211E |
|
Het |
| Gzme |
T |
C |
14: 56,356,198 (GRCm39) |
D100G |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,562,319 (GRCm39) |
T249A |
probably benign |
Het |
| Hoxd4 |
G |
A |
2: 74,558,747 (GRCm39) |
C190Y |
possibly damaging |
Het |
| Hr |
T |
A |
14: 70,808,915 (GRCm39) |
V1097E |
probably damaging |
Het |
| Iqca1l |
T |
G |
5: 24,753,969 (GRCm39) |
E430A |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,941,480 (GRCm39) |
K524* |
probably null |
Het |
| Kif18a |
A |
G |
2: 109,163,819 (GRCm39) |
T723A |
probably benign |
Het |
| Kif1a |
A |
G |
1: 93,005,501 (GRCm39) |
V91A |
probably damaging |
Het |
| Krtap19-2 |
AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA |
AAAGCCTCCA |
16: 88,670,859 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,710,959 (GRCm39) |
V1559M |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,565,242 (GRCm39) |
V47A |
possibly damaging |
Het |
| Msto1 |
A |
T |
3: 88,819,411 (GRCm39) |
I160N |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,364,215 (GRCm39) |
Q2509K |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Or1ad8 |
T |
A |
11: 50,897,891 (GRCm39) |
F31I |
probably damaging |
Het |
| Or2ag2b |
C |
T |
7: 106,417,938 (GRCm39) |
T216I |
probably benign |
Het |
| Or52ad1 |
C |
T |
7: 102,995,908 (GRCm39) |
V76I |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,686 (GRCm39) |
|
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,222 (GRCm39) |
M136K |
probably damaging |
Het |
| Pik3c3 |
C |
A |
18: 30,466,364 (GRCm39) |
A805D |
probably damaging |
Het |
| Pnn |
A |
G |
12: 59,116,929 (GRCm39) |
Q167R |
probably damaging |
Het |
| Pogk |
G |
T |
1: 166,226,380 (GRCm39) |
H590Q |
probably damaging |
Het |
| Prkcd |
A |
G |
14: 30,327,432 (GRCm39) |
L251P |
probably damaging |
Het |
| Prrc1 |
T |
A |
18: 57,496,208 (GRCm39) |
V53E |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,345,522 (GRCm39) |
F856S |
unknown |
Het |
| Rnf31 |
G |
A |
14: 55,833,698 (GRCm39) |
A569T |
probably benign |
Het |
| Robo1 |
T |
A |
16: 72,769,178 (GRCm39) |
D532E |
probably benign |
Het |
| Sh2d6 |
T |
A |
6: 72,497,594 (GRCm39) |
K3* |
probably null |
Het |
| Slc22a27 |
T |
C |
19: 7,874,209 (GRCm39) |
T289A |
probably benign |
Het |
| Speg |
T |
C |
1: 75,361,498 (GRCm39) |
S171P |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,770,329 (GRCm39) |
F622I |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,679,586 (GRCm39) |
D589G |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,255,706 (GRCm39) |
I2391M |
probably benign |
Het |
| Sytl2 |
A |
G |
7: 90,007,384 (GRCm39) |
M49V |
probably benign |
Het |
| Tmem185b |
T |
C |
1: 119,454,368 (GRCm39) |
V43A |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 20,993,590 (GRCm39) |
M499K |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,593 (GRCm39) |
S159R |
possibly damaging |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,628 (GRCm39) |
Y103C |
probably damaging |
Het |
| Vmn1r65 |
C |
T |
7: 6,011,769 (GRCm39) |
C155Y |
possibly damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,824,088 (GRCm39) |
V448I |
probably benign |
Het |
| Zfp592 |
A |
T |
7: 80,691,529 (GRCm39) |
D1236V |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,803,132 (GRCm39) |
V568A |
possibly damaging |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,346,320 (GRCm39) |
I147F |
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 |
|
|
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'- AGGAAGTCTAAGAATGTACCAACAC -3'
(R):5'- GAGTCTACATTTGCACCGATCC -3'
Sequencing Primer
(F):5'- ATCTGGGTACTGGGGATCAAATTCAC -3'
(R):5'- GATCCTTCCTTCCCTGGCACTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation