Incidental Mutation 'R5739:Clcn6'
| ID |
444678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn6
|
| Ensembl Gene |
ENSMUSG00000029016 |
| Gene Name |
chloride channel, voltage-sensitive 6 |
| Synonyms |
|
| MMRRC Submission |
043351-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R5739 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148098646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 494
(V494A)
|
| 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: V491A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: V491A
| 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: V494A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: V494A
| 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: V494A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: V494A
| 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 |
0.2158 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (82/82) |
| 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 |
|---|
| 4931429L15Rik |
A |
T |
9: 46,220,717 (GRCm39) |
S50T |
probably benign |
Het |
| A930011G23Rik |
A |
G |
5: 99,369,289 (GRCm39) |
L529P |
probably damaging |
Het |
| Acer2 |
A |
T |
4: 86,818,792 (GRCm39) |
N147Y |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,150,901 (GRCm39) |
E353G |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,632,737 (GRCm39) |
F60L |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,811,260 (GRCm39) |
D120V |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,258,728 (GRCm39) |
D265G |
possibly damaging |
Het |
| Aurkc |
A |
T |
7: 7,005,859 (GRCm39) |
Y249F |
probably benign |
Het |
| Bmal1 |
G |
A |
7: 112,884,238 (GRCm39) |
R92Q |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,389,528 (GRCm39) |
I274V |
probably benign |
Het |
| Camk2n2 |
C |
A |
16: 20,439,830 (GRCm39) |
G39C |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,880,710 (GRCm39) |
L419P |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,141,388 (GRCm39) |
M3117V |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,357 (GRCm39) |
E280G |
probably benign |
Het |
| Cherp |
TGCTGGTGGTGGGG |
TG |
8: 73,221,659 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
| Crb2 |
T |
G |
2: 37,683,666 (GRCm39) |
V1056G |
probably damaging |
Het |
| Crtac1 |
A |
G |
19: 42,290,612 (GRCm39) |
F363S |
probably damaging |
Het |
| Dipk2a |
A |
T |
9: 94,402,594 (GRCm39) |
V356E |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,243,715 (GRCm39) |
S449G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,273,152 (GRCm39) |
I2427F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,937,981 (GRCm39) |
D1619E |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,850,995 (GRCm39) |
S836T |
possibly damaging |
Het |
| Donson |
A |
T |
16: 91,478,117 (GRCm39) |
|
probably null |
Het |
| Drc3 |
G |
A |
11: 60,265,956 (GRCm39) |
R215H |
possibly damaging |
Het |
| Entpd2 |
T |
C |
2: 25,289,504 (GRCm39) |
S329P |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,603,857 (GRCm39) |
S332P |
probably damaging |
Het |
| Fam83f |
T |
A |
15: 80,576,206 (GRCm39) |
Y286N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,283 (GRCm39) |
V3645A |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,419,287 (GRCm39) |
F668L |
possibly damaging |
Het |
| Gm14403 |
T |
A |
2: 177,201,040 (GRCm39) |
C329S |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,684,448 (GRCm39) |
T374I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,634,225 (GRCm39) |
|
probably null |
Het |
| Hrnr |
T |
C |
3: 93,230,436 (GRCm39) |
S225P |
unknown |
Het |
| Ifi202b |
C |
T |
1: 173,798,918 (GRCm39) |
|
probably null |
Het |
| Il10ra |
A |
T |
9: 45,167,368 (GRCm39) |
D394E |
possibly damaging |
Het |
| Itga2b |
A |
T |
11: 102,356,735 (GRCm39) |
D275E |
probably benign |
Het |
| Jaml |
A |
T |
9: 45,000,026 (GRCm39) |
D108V |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,872 (GRCm39) |
V443A |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,473,637 (GRCm39) |
S126R |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,788,450 (GRCm39) |
I354T |
probably damaging |
Het |
| Nucb1 |
A |
T |
7: 45,151,084 (GRCm39) |
L99Q |
probably damaging |
Het |
| Or4f59 |
A |
G |
2: 111,873,128 (GRCm39) |
F83S |
probably damaging |
Het |
| Pask |
A |
G |
1: 93,249,778 (GRCm39) |
S541P |
probably benign |
Het |
| Pdpr |
A |
T |
8: 111,861,252 (GRCm39) |
I749F |
possibly damaging |
Het |
| Pgap6 |
T |
A |
17: 26,339,425 (GRCm39) |
F580I |
probably damaging |
Het |
| Phyhipl |
T |
C |
10: 70,395,399 (GRCm39) |
D269G |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,523,223 (GRCm39) |
D110G |
probably benign |
Het |
| Ppox |
A |
G |
1: 171,107,570 (GRCm39) |
L115P |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,500,281 (GRCm39) |
L94P |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,276 (GRCm39) |
M141K |
probably benign |
Het |
| Prl3d1 |
A |
T |
13: 27,283,995 (GRCm39) |
H188L |
probably benign |
Het |
| Psmb3 |
T |
A |
11: 97,604,296 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,032,333 (GRCm39) |
S150T |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,823,203 (GRCm39) |
T903A |
probably damaging |
Het |
| Rnase4 |
T |
C |
14: 51,342,306 (GRCm39) |
L10S |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,012 (GRCm39) |
T114A |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,269,619 (GRCm39) |
E1735V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,264,950 (GRCm39) |
Y60N |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,110,814 (GRCm39) |
V508E |
probably damaging |
Het |
| Rubcnl |
T |
C |
14: 75,278,381 (GRCm39) |
|
probably null |
Het |
| Rxfp4 |
A |
G |
3: 88,559,209 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
A |
G |
1: 176,653,797 (GRCm39) |
T85A |
probably benign |
Het |
| Slc46a1 |
A |
T |
11: 78,357,975 (GRCm39) |
I343F |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,340,639 (GRCm39) |
D597G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,044,239 (GRCm39) |
V3942E |
possibly damaging |
Het |
| Timd4 |
T |
C |
11: 46,708,573 (GRCm39) |
S200P |
probably benign |
Het |
| Tmc5 |
G |
A |
7: 118,265,834 (GRCm39) |
|
probably null |
Het |
| Trbv16 |
A |
G |
6: 41,129,013 (GRCm39) |
T66A |
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,240,183 (GRCm39) |
K1103* |
probably null |
Het |
| Ttc7b |
A |
G |
12: 100,350,492 (GRCm39) |
V458A |
probably damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,134 (GRCm39) |
S181P |
probably benign |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,114 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
A |
T |
6: 124,002,925 (GRCm39) |
N112Y |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Zc3h10 |
T |
C |
10: 128,380,670 (GRCm39) |
N229S |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,226,867 (GRCm39) |
*2247W |
probably null |
Het |
| Zfyve1 |
C |
A |
12: 83,621,910 (GRCm39) |
V162L |
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 |
|
|
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 |
|
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'- TCCAATGTAGCTGGTTGAAGAGAG -3'
(R):5'- ATGCCAGAGGGTCACGTTTC -3'
Sequencing Primer
(F):5'- GAAACAGAGCCAGGCTTAGACTC -3'
(R):5'- TGGTGTGCAAAAGCCACC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation