Incidental Mutation 'R4865:Clcn6'
| ID |
374817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn6
|
| Ensembl Gene |
ENSMUSG00000029016 |
| Gene Name |
chloride channel, voltage-sensitive 6 |
| Synonyms |
|
| MMRRC Submission |
042475-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R4865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148104223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 223
(I223N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
| AlphaFold |
O35454 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030879
AA Change: I220N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: I220N
| 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: I223N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: I223N
| 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 |
noncoding transcript
Transcript: ENSMUST00000134377
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137724
AA Change: I223N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: I223N
| 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 |
0.4273 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (86/88) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,938,157 (GRCm39) |
V639M |
probably damaging |
Het |
| Adgrf4 |
A |
G |
17: 42,978,156 (GRCm39) |
S396P |
probably damaging |
Het |
| Aldh3b2 |
T |
A |
19: 4,028,469 (GRCm39) |
I123N |
probably damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,095,567 (GRCm39) |
Y517H |
probably damaging |
Het |
| Aph1c |
A |
C |
9: 66,735,120 (GRCm39) |
I77S |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,408,942 (GRCm39) |
|
probably null |
Het |
| Atp13a5 |
G |
A |
16: 29,066,912 (GRCm39) |
P1020L |
probably damaging |
Het |
| BC024139 |
A |
T |
15: 76,010,266 (GRCm39) |
M80K |
possibly damaging |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cenpn |
A |
G |
8: 117,661,512 (GRCm39) |
I204V |
probably damaging |
Het |
| Ces4a |
A |
T |
8: 105,873,790 (GRCm39) |
M420L |
probably benign |
Het |
| Chdh |
T |
A |
14: 29,755,681 (GRCm39) |
D322E |
probably benign |
Het |
| Clec4b1 |
A |
G |
6: 123,045,428 (GRCm39) |
K50E |
possibly damaging |
Het |
| Creg1 |
T |
A |
1: 165,597,432 (GRCm39) |
C135* |
probably null |
Het |
| Cyp4f13 |
C |
T |
17: 33,144,678 (GRCm39) |
R411Q |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,234 (GRCm39) |
F1426L |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,780,917 (GRCm39) |
*1917R |
probably null |
Het |
| Dync1h1 |
T |
G |
12: 110,606,235 (GRCm39) |
L2435R |
possibly damaging |
Het |
| Eif3l |
C |
A |
15: 78,965,849 (GRCm39) |
Y166* |
probably null |
Het |
| Emilin1 |
T |
A |
5: 31,075,128 (GRCm39) |
N456K |
possibly damaging |
Het |
| Fam83f |
C |
T |
15: 80,576,650 (GRCm39) |
R434C |
probably damaging |
Het |
| Fbxw9 |
A |
G |
8: 85,786,785 (GRCm39) |
D10G |
possibly damaging |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,821,295 (GRCm39) |
V5676G |
possibly damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
A |
G |
11: 99,684,064 (GRCm39) |
|
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,183,286 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
A |
G |
6: 136,464,072 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
| Grp |
A |
T |
18: 66,013,041 (GRCm39) |
D69V |
probably damaging |
Het |
| Gucy1a1 |
G |
T |
3: 82,026,469 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,357,980 (GRCm39) |
L376Q |
probably damaging |
Het |
| Ifne |
A |
T |
4: 88,797,942 (GRCm39) |
Y159N |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,898,092 (GRCm39) |
V81A |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,645,288 (GRCm39) |
V192A |
probably benign |
Het |
| Kcnh4 |
A |
G |
11: 100,640,569 (GRCm39) |
S486P |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,222,912 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,327,096 (GRCm39) |
E4800D |
probably damaging |
Het |
| Mblac2 |
C |
T |
13: 81,860,095 (GRCm39) |
Q150* |
probably null |
Het |
| Mc1r |
A |
T |
8: 124,134,255 (GRCm39) |
T3S |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,176,668 (GRCm39) |
Q70* |
probably null |
Het |
| Myocd |
A |
T |
11: 65,069,856 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
T |
C |
9: 103,909,169 (GRCm39) |
L793P |
probably benign |
Het |
| Or1ad1 |
A |
G |
11: 50,876,370 (GRCm39) |
T281A |
probably damaging |
Het |
| Or2m13 |
A |
T |
16: 19,226,051 (GRCm39) |
F238L |
probably damaging |
Het |
| Or4a68 |
T |
G |
2: 89,270,003 (GRCm39) |
T207P |
possibly damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,944 (GRCm39) |
D184G |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,060 (GRCm39) |
M88K |
probably damaging |
Het |
| Or8c13 |
T |
A |
9: 38,091,196 (GRCm39) |
T308S |
possibly damaging |
Het |
| Piezo1 |
A |
T |
8: 123,213,660 (GRCm39) |
L1745Q |
probably damaging |
Het |
| Prdm10 |
T |
A |
9: 31,258,376 (GRCm39) |
H600Q |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,211 (GRCm39) |
L268M |
probably damaging |
Het |
| Psg23 |
T |
C |
7: 18,346,039 (GRCm39) |
I219V |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,400,553 (GRCm39) |
R113* |
probably null |
Het |
| Rgs22 |
A |
T |
15: 36,100,358 (GRCm39) |
I243N |
probably damaging |
Het |
| Rhbdf1 |
G |
A |
11: 32,164,517 (GRCm39) |
T183I |
probably damaging |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,554 (GRCm39) |
M373T |
probably benign |
Het |
| Ros1 |
G |
T |
10: 52,048,966 (GRCm39) |
A88E |
probably damaging |
Het |
| Sdr16c6 |
A |
G |
4: 4,058,834 (GRCm39) |
F251L |
probably benign |
Het |
| Skil |
A |
G |
3: 31,167,562 (GRCm39) |
Y398C |
probably damaging |
Het |
| Slc22a3 |
A |
T |
17: 12,683,419 (GRCm39) |
M148K |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Sntn |
A |
T |
14: 13,679,103 (GRCm38) |
K92N |
probably benign |
Het |
| Spry4 |
A |
T |
18: 38,722,876 (GRCm39) |
S296T |
probably benign |
Het |
| St8sia1 |
A |
G |
6: 142,774,796 (GRCm39) |
F261S |
probably damaging |
Het |
| Stab2 |
C |
T |
10: 86,679,364 (GRCm39) |
|
probably null |
Het |
| Stk24 |
A |
T |
14: 121,530,866 (GRCm39) |
C363* |
probably null |
Het |
| Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
| Tmem67 |
T |
C |
4: 12,070,262 (GRCm39) |
N387S |
probably benign |
Het |
| Treml1 |
A |
T |
17: 48,673,885 (GRCm39) |
I304L |
probably benign |
Het |
| Trim13 |
A |
G |
14: 61,842,966 (GRCm39) |
I328V |
probably benign |
Het |
| Upk2 |
A |
G |
9: 44,365,382 (GRCm39) |
V62A |
probably damaging |
Het |
| Urb2 |
A |
T |
8: 124,756,374 (GRCm39) |
K694* |
probably null |
Het |
| Vmn2r17 |
C |
A |
5: 109,574,985 (GRCm39) |
N97K |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,892 (GRCm39) |
V619D |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,387,634 (GRCm39) |
R213Q |
probably benign |
Het |
| Wnt6 |
G |
A |
1: 74,821,788 (GRCm39) |
C123Y |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,819,563 (GRCm39) |
I253T |
probably damaging |
Het |
| Zfp52 |
C |
T |
17: 21,781,505 (GRCm39) |
S451L |
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 |
|
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'- CATCATTGCTGCCTGAAATGG -3'
(R):5'- ATATGCAGCAGGTCTCCATCC -3'
Sequencing Primer
(F):5'- CCTGAAATGGCTCTTACAACAAG -3'
(R):5'- GCAGGTCTCCATCCCTTCCAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation