Incidental Mutation 'IGL02816:Clcn4'
ID |
360808 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clcn4
|
Ensembl Gene |
ENSMUSG00000000605 |
Gene Name |
chloride channel, voltage-sensitive 4 |
Synonyms |
Clc4-2, Clcn4-2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02816
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7298087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 41
(C41R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147562
(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: C101R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000619 Gene: ENSMUSG00000000605 AA Change: C101R
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: C101R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211551
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210989
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210809
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Caskin1 |
C |
A |
17: 24,721,144 (GRCm39) |
P495T |
probably benign |
Het |
Etfdh |
G |
A |
3: 79,530,112 (GRCm39) |
T52M |
probably damaging |
Het |
Fam227a |
T |
C |
15: 79,510,497 (GRCm39) |
T386A |
possibly damaging |
Het |
Gabrr3 |
T |
C |
16: 59,260,830 (GRCm39) |
|
probably benign |
Het |
Krt25 |
G |
T |
11: 99,208,977 (GRCm39) |
D284E |
probably benign |
Het |
Map1b |
T |
C |
13: 99,578,263 (GRCm39) |
D130G |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,446,608 (GRCm39) |
F785I |
probably benign |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Numa1 |
T |
A |
7: 101,645,307 (GRCm39) |
I311N |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,813,489 (GRCm39) |
C4010R |
probably benign |
Het |
Prph |
A |
G |
15: 98,955,301 (GRCm39) |
M423V |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,333,052 (GRCm39) |
|
probably benign |
Het |
Ribc2 |
T |
G |
15: 85,017,106 (GRCm39) |
V48G |
probably damaging |
Het |
Scyl1 |
A |
T |
19: 5,820,410 (GRCm39) |
N141K |
probably damaging |
Het |
Sec23a |
T |
A |
12: 59,025,331 (GRCm39) |
M497L |
probably benign |
Het |
Strada |
C |
T |
11: 106,055,251 (GRCm39) |
|
probably benign |
Het |
Tas2r144 |
A |
T |
6: 42,192,539 (GRCm39) |
Y93F |
probably benign |
Het |
Tmem94 |
T |
A |
11: 115,679,530 (GRCm39) |
|
probably null |
Het |
Trpc3 |
A |
G |
3: 36,705,851 (GRCm39) |
F448S |
probably damaging |
Het |
Ttc13 |
A |
G |
8: 125,439,415 (GRCm39) |
I113T |
possibly damaging |
Het |
Ttc27 |
T |
A |
17: 75,054,769 (GRCm39) |
|
probably benign |
Het |
Ttll13 |
G |
T |
7: 79,902,842 (GRCm39) |
C170F |
possibly damaging |
Het |
Yes1 |
C |
T |
5: 32,802,451 (GRCm39) |
T122M |
probably damaging |
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 |
|
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 |
R1563:Clcn4
|
UTSW |
7 |
7,296,981 (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 |
|
|
Posted On |
2015-12-18 |