Incidental Mutation 'R1563:Clcn4'
| ID |
170750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn4
|
| Ensembl Gene |
ENSMUSG00000000605 |
| Gene Name |
chloride channel, voltage-sensitive 4 |
| Synonyms |
Clc4-2, Clcn4-2 |
| MMRRC Submission |
039602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7296981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 219
(C219Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000209916]
[ENSMUST00000210061]
[ENSMUST00000210362]
[ENSMUST00000210594]
[ENSMUST00000211574]
|
| AlphaFold |
Q61418 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000619
AA Change: C219Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: C219Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
149 |
552 |
2.7e-111 |
PFAM |
|
CBS
|
596 |
646 |
1.07e-1 |
SMART |
|
CBS
|
687 |
734 |
4.92e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209916
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210061
AA Change: C219Y
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210594
AA Change: C159Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210809
|
| Meta Mutation Damage Score |
0.9629 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
98% (82/84) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious phenotype. [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 |
|---|
| 4930519G04Rik |
T |
C |
5: 115,001,569 (GRCm39) |
M22T |
probably benign |
Het |
| A930018M24Rik |
A |
G |
14: 51,134,576 (GRCm39) |
L22P |
probably damaging |
Het |
| Aipl1 |
A |
T |
11: 71,927,538 (GRCm39) |
M59K |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,589,747 (GRCm39) |
I1835V |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,274,056 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,205,389 (GRCm39) |
V115A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,554,361 (GRCm39) |
M685K |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 18,986,853 (GRCm39) |
Y361* |
probably null |
Het |
| Cpeb2 |
G |
A |
5: 43,443,080 (GRCm39) |
V924M |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,745,411 (GRCm39) |
E138G |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,748,441 (GRCm39) |
Y346C |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,854,638 (GRCm39) |
L100Q |
probably benign |
Het |
| Dnajc6 |
A |
C |
4: 101,456,334 (GRCm39) |
N76T |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,009,231 (GRCm39) |
L954P |
probably damaging |
Het |
| Eral1 |
A |
T |
11: 77,966,232 (GRCm39) |
D315E |
probably benign |
Het |
| Fbln2 |
G |
T |
6: 91,240,365 (GRCm39) |
E724* |
probably null |
Het |
| Fyco1 |
A |
G |
9: 123,656,247 (GRCm39) |
|
probably benign |
Het |
| Fzd3 |
T |
A |
14: 65,473,173 (GRCm39) |
E198D |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,279,408 (GRCm39) |
N159S |
probably damaging |
Het |
| Galnt6 |
T |
A |
15: 100,601,259 (GRCm39) |
Q340L |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,184,522 (GRCm39) |
A390V |
probably damaging |
Het |
| Gm5435 |
T |
G |
12: 82,542,464 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9949 |
A |
C |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,582,984 (GRCm39) |
T295I |
probably benign |
Het |
| Gria2 |
G |
T |
3: 80,598,704 (GRCm39) |
Q777K |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Haao |
T |
C |
17: 84,142,318 (GRCm39) |
T174A |
probably benign |
Het |
| Hes6 |
A |
T |
1: 91,340,858 (GRCm39) |
M1K |
probably null |
Het |
| Hook3 |
G |
T |
8: 26,600,780 (GRCm39) |
Q43K |
probably benign |
Het |
| Klhl35 |
T |
C |
7: 99,120,902 (GRCm39) |
V390A |
probably damaging |
Het |
| Myh9 |
G |
T |
15: 77,656,057 (GRCm39) |
T1151K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,981,668 (GRCm39) |
I587F |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,704,408 (GRCm39) |
D696G |
probably damaging |
Het |
| Niban1 |
A |
T |
1: 151,591,424 (GRCm39) |
Y522F |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,311,724 (GRCm39) |
D52G |
probably damaging |
Het |
| Oit3 |
G |
T |
10: 59,263,896 (GRCm39) |
R413S |
probably damaging |
Het |
| Or4k48 |
T |
A |
2: 111,476,027 (GRCm39) |
H105L |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,273,580 (GRCm39) |
M300V |
probably benign |
Het |
| Otof |
T |
C |
5: 30,528,349 (GRCm39) |
T1870A |
probably benign |
Het |
| Pdgfd |
T |
C |
9: 6,293,939 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,613,506 (GRCm39) |
V526A |
possibly damaging |
Het |
| Pknox1 |
T |
C |
17: 31,814,256 (GRCm39) |
S194P |
probably damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,181,266 (GRCm39) |
S8P |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,807,416 (GRCm39) |
E157G |
probably damaging |
Het |
| Psmd3 |
C |
T |
11: 98,585,051 (GRCm39) |
R466W |
probably damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,967,967 (GRCm39) |
F542S |
possibly damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,135,214 (GRCm39) |
M393L |
possibly damaging |
Het |
| Qpct |
T |
A |
17: 79,371,492 (GRCm39) |
S87T |
probably benign |
Het |
| Qtrt1 |
T |
A |
9: 21,330,607 (GRCm39) |
V269D |
probably benign |
Het |
| Rassf9 |
C |
G |
10: 102,380,821 (GRCm39) |
R68G |
probably damaging |
Het |
| Relch |
A |
G |
1: 105,647,259 (GRCm39) |
Y707C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,963,235 (GRCm39) |
E25G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,352 (GRCm39) |
F528L |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,823,457 (GRCm39) |
S693P |
probably benign |
Het |
| She |
A |
G |
3: 89,761,921 (GRCm39) |
D460G |
probably benign |
Het |
| Sipa1l1 |
G |
T |
12: 82,387,935 (GRCm39) |
V54L |
probably benign |
Het |
| Slc8a3 |
T |
A |
12: 81,251,781 (GRCm39) |
D640V |
possibly damaging |
Het |
| Smurf1 |
T |
A |
5: 144,819,323 (GRCm39) |
E601D |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Synpo2l |
A |
G |
14: 20,711,346 (GRCm39) |
S425P |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,421,454 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcf23 |
A |
T |
5: 31,126,175 (GRCm39) |
H18L |
probably benign |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,808 (GRCm39) |
S16G |
probably damaging |
Het |
| Tekt2 |
T |
A |
4: 126,217,200 (GRCm39) |
M233L |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,427,634 (GRCm39) |
S29P |
probably damaging |
Het |
| Tjp2 |
T |
A |
19: 24,110,067 (GRCm39) |
N59I |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,802,575 (GRCm39) |
M626I |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,952,985 (GRCm39) |
V685D |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trhr |
G |
A |
15: 44,060,497 (GRCm39) |
V6I |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,032,158 (GRCm39) |
R301Q |
probably benign |
Het |
| Usp51 |
T |
C |
X: 151,790,988 (GRCm39) |
I194T |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,550 (GRCm39) |
S569P |
probably benign |
Het |
| Vps26a |
T |
G |
10: 62,300,459 (GRCm39) |
I236L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,330,718 (GRCm39) |
M882V |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,545 (GRCm39) |
V1813A |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,745,626 (GRCm39) |
G604D |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,739,559 (GRCm39) |
Q669* |
probably null |
Het |
|
| Other mutations in Clcn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Clcn4
|
APN |
7 |
7,290,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01090:Clcn4
|
APN |
7 |
7,297,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01650:Clcn4
|
APN |
7 |
7,287,280 (GRCm39) |
splice site |
probably benign |
|
|
IGL02404:Clcn4
|
APN |
7 |
7,290,857 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02493:Clcn4
|
APN |
7 |
7,287,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Clcn4
|
APN |
7 |
7,299,065 (GRCm39) |
missense |
probably benign |
|
|
IGL02661:Clcn4
|
APN |
7 |
7,294,730 (GRCm39) |
splice site |
probably null |
|
|
IGL02816:Clcn4
|
APN |
7 |
7,298,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02882:Clcn4
|
APN |
7 |
7,293,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03205:Clcn4
|
APN |
7 |
7,293,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03289:Clcn4
|
APN |
7 |
7,287,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Delipidated
|
UTSW |
7 |
7,296,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Clcn4
|
UTSW |
7 |
7,298,090 (GRCm39) |
nonsense |
probably null |
|
|
R0379:Clcn4
|
UTSW |
7 |
7,299,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0555:Clcn4
|
UTSW |
7 |
7,293,503 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0890:Clcn4
|
UTSW |
7 |
7,291,964 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1463:Clcn4
|
UTSW |
7 |
7,299,763 (GRCm39) |
nonsense |
probably null |
|
|
R1549:Clcn4
|
UTSW |
7 |
7,294,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Clcn4
|
UTSW |
7 |
7,287,184 (GRCm39) |
makesense |
probably null |
|
|
R2764:Clcn4
|
UTSW |
7 |
7,299,798 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2874:Clcn4
|
UTSW |
7 |
7,293,520 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4023:Clcn4
|
UTSW |
7 |
7,293,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4024:Clcn4
|
UTSW |
7 |
7,293,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4152:Clcn4
|
UTSW |
7 |
7,297,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4154:Clcn4
|
UTSW |
7 |
7,297,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4298:Clcn4
|
UTSW |
7 |
7,299,737 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4535:Clcn4
|
UTSW |
7 |
7,290,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4574:Clcn4
|
UTSW |
7 |
7,290,804 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4977:Clcn4
|
UTSW |
7 |
7,294,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5158:Clcn4
|
UTSW |
7 |
7,294,618 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5302:Clcn4
|
UTSW |
7 |
7,297,050 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5369:Clcn4
|
UTSW |
7 |
7,299,032 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5624:Clcn4
|
UTSW |
7 |
7,291,943 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5626:Clcn4
|
UTSW |
7 |
7,292,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Clcn4
|
UTSW |
7 |
7,294,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Clcn4
|
UTSW |
7 |
7,294,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6259:Clcn4
|
UTSW |
7 |
7,294,529 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6396:Clcn4
|
UTSW |
7 |
7,297,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Clcn4
|
UTSW |
7 |
7,302,181 (GRCm39) |
unclassified |
probably benign |
|
|
R7320:Clcn4
|
UTSW |
7 |
7,294,827 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7562:Clcn4
|
UTSW |
7 |
7,298,081 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7586:Clcn4
|
UTSW |
7 |
7,296,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Clcn4
|
UTSW |
7 |
7,296,936 (GRCm39) |
missense |
probably benign |
|
|
R7860:Clcn4
|
UTSW |
7 |
7,296,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7872:Clcn4
|
UTSW |
7 |
7,290,780 (GRCm39) |
missense |
probably benign |
|
|
R7895:Clcn4
|
UTSW |
7 |
7,298,167 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8069:Clcn4
|
UTSW |
7 |
7,299,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8083:Clcn4
|
UTSW |
7 |
7,294,427 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9185:Clcn4
|
UTSW |
7 |
7,287,197 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9281:Clcn4
|
UTSW |
7 |
7,294,813 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9333:Clcn4
|
UTSW |
7 |
7,292,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Clcn4
|
UTSW |
7 |
7,299,797 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0019:Clcn4
|
UTSW |
7 |
7,294,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clcn4
|
UTSW |
7 |
7,297,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Clcn4
|
UTSW |
7 |
7,296,039 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTATGGACTTTATTGTGGATGGGAT -3'
(R):5'- TCCTCGGATAGATAAGAGGGCCACT -3'
Sequencing Primer
(F):5'- TGGGATGAGGTAGAGACTCC -3'
(R):5'- atagataagagggccactgCAATAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation