Incidental Mutation 'R2177:Clcn6'
| ID |
236926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn6
|
| Ensembl Gene |
ENSMUSG00000029016 |
| Gene Name |
chloride channel, voltage-sensitive 6 |
| Synonyms |
|
| MMRRC Submission |
040179-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2177 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148088716-148123270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 148099057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 429
(I429F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030879]
[ENSMUST00000105711]
[ENSMUST00000137724]
|
| AlphaFold |
O35454 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030879
AA Change: I426F
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: I426F
| 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: I429F
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: I429F
| 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 |
possibly damaging
Transcript: ENSMUST00000137724
AA Change: I429F
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: I429F
| 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 |
0.1242 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (60/62) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,312 (GRCm39) |
N356K |
probably damaging |
Het |
| Acap2 |
C |
T |
16: 30,952,346 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
T |
C |
18: 59,087,626 (GRCm39) |
L552P |
possibly damaging |
Het |
| Adamts2 |
T |
A |
11: 50,668,055 (GRCm39) |
M539K |
probably damaging |
Het |
| Aplp1 |
A |
T |
7: 30,141,946 (GRCm39) |
C210* |
probably null |
Het |
| Apoa1 |
A |
T |
9: 46,141,371 (GRCm39) |
K156* |
probably null |
Het |
| AW551984 |
G |
A |
9: 39,511,111 (GRCm39) |
R159C |
probably benign |
Het |
| Bok |
C |
T |
1: 93,622,787 (GRCm39) |
Q112* |
probably null |
Het |
| Cemip2 |
T |
C |
19: 21,789,149 (GRCm39) |
S528P |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,463,885 (GRCm39) |
I323L |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,675,803 (GRCm39) |
E270D |
probably damaging |
Het |
| Ch25h |
G |
T |
19: 34,452,097 (GRCm39) |
L144M |
probably damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,611 (GRCm39) |
T115S |
probably benign |
Het |
| Csf1r |
T |
A |
18: 61,248,015 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,539,028 (GRCm39) |
T279A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,872,367 (GRCm39) |
H452R |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,411,524 (GRCm39) |
D1784V |
probably damaging |
Het |
| Exo1 |
T |
A |
1: 175,710,456 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
G |
8: 72,164,905 (GRCm39) |
S459P |
probably damaging |
Het |
| Fxyd4 |
C |
T |
6: 117,911,393 (GRCm39) |
A56T |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,254,109 (GRCm39) |
S599P |
probably benign |
Het |
| Iqce |
T |
C |
5: 140,677,348 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,601,648 (GRCm39) |
F256L |
probably damaging |
Het |
| Klk1b1 |
G |
T |
7: 43,618,695 (GRCm39) |
R24L |
possibly damaging |
Het |
| Krtap16-1 |
A |
G |
11: 99,877,275 (GRCm39) |
V43A |
probably damaging |
Het |
| Maea |
C |
G |
5: 33,529,034 (GRCm39) |
Q326E |
probably benign |
Het |
| Man1a2 |
A |
T |
3: 100,539,847 (GRCm39) |
I308N |
probably damaging |
Het |
| Marf1 |
G |
T |
16: 13,970,471 (GRCm39) |
R83S |
probably benign |
Het |
| Me3 |
A |
C |
7: 89,282,278 (GRCm39) |
T54P |
probably benign |
Het |
| Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,978,560 (GRCm39) |
N664S |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,128 (GRCm39) |
V199A |
probably benign |
Het |
| Mrpl36 |
T |
A |
13: 73,479,588 (GRCm39) |
F33I |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,054,686 (GRCm39) |
T947S |
probably benign |
Het |
| Or14c45 |
G |
A |
7: 86,176,870 (GRCm39) |
V302I |
probably benign |
Het |
| Or4b1d |
T |
A |
2: 89,968,808 (GRCm39) |
H225L |
possibly damaging |
Het |
| Or8b55 |
A |
T |
9: 38,727,482 (GRCm39) |
I228F |
possibly damaging |
Het |
| Parp4 |
A |
T |
14: 56,896,746 (GRCm39) |
R1923S |
unknown |
Het |
| Pcm1 |
T |
C |
8: 41,729,002 (GRCm39) |
V658A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,322,791 (GRCm39) |
S26G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,184,081 (GRCm39) |
H433Q |
possibly damaging |
Het |
| Rab7 |
T |
C |
6: 87,982,063 (GRCm39) |
D104G |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,551,632 (GRCm39) |
V282A |
possibly damaging |
Het |
| Rdh13 |
T |
C |
7: 4,430,666 (GRCm39) |
E264G |
possibly damaging |
Het |
| Rock1 |
C |
G |
18: 10,070,263 (GRCm39) |
R1270T |
probably benign |
Het |
| Sdhaf4 |
C |
T |
1: 24,035,370 (GRCm39) |
G93R |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,595,228 (GRCm39) |
T910A |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,779,778 (GRCm39) |
H345R |
possibly damaging |
Het |
| Snx4 |
T |
A |
16: 33,106,428 (GRCm39) |
|
probably null |
Het |
| Tchh |
A |
G |
3: 93,351,439 (GRCm39) |
E293G |
unknown |
Het |
| Ulk2 |
T |
A |
11: 61,682,335 (GRCm39) |
T727S |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,729,706 (GRCm39) |
E756G |
probably damaging |
Het |
| Vmn2r68 |
G |
A |
7: 84,871,123 (GRCm39) |
A720V |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,645,839 (GRCm39) |
N56S |
possibly damaging |
Het |
| Washc5 |
A |
T |
15: 59,235,118 (GRCm39) |
Y263* |
probably null |
Het |
| Zfp119b |
A |
T |
17: 56,245,639 (GRCm39) |
C516S |
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 |
|
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'- TGTTGCAGAGAGATGCCTG -3'
(R):5'- CCCACATTGTTTGAGTCCACAC -3'
Sequencing Primer
(F):5'- TTGCAGAGAGATGCCTGAGAGG -3'
(R):5'- AGCATCAGTAGCTGCTGTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation