Incidental Mutation 'IGL01650:Clcn4'
| ID |
102822 |
| 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 # |
IGL01650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 7287280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000210061]
[ENSMUST00000210594]
|
| AlphaFold |
Q61418 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000619
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
| 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 |
probably benign
Transcript: ENSMUST00000210061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210594
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,070,067 (GRCm39) |
D281G |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,180,127 (GRCm39) |
E236G |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,046,822 (GRCm39) |
|
probably benign |
Het |
| Btbd3 |
A |
T |
2: 138,126,025 (GRCm39) |
D334V |
probably damaging |
Het |
| Cabp4 |
T |
C |
19: 4,189,323 (GRCm39) |
E78G |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,270,089 (GRCm39) |
Y600C |
unknown |
Het |
| Cpne4 |
A |
G |
9: 104,778,710 (GRCm39) |
D167G |
probably damaging |
Het |
| Eif3a |
T |
A |
19: 60,762,434 (GRCm39) |
I450F |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,783,329 (GRCm39) |
Y10F |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,518,274 (GRCm39) |
H339Q |
possibly damaging |
Het |
| Far2 |
C |
A |
6: 148,074,985 (GRCm39) |
T406K |
possibly damaging |
Het |
| Fmo1 |
A |
G |
1: 162,661,153 (GRCm39) |
S377P |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,821,430 (GRCm39) |
S5721N |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,520,791 (GRCm39) |
I300T |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,070,132 (GRCm39) |
N375D |
probably benign |
Het |
| Gsdma |
G |
T |
11: 98,564,513 (GRCm39) |
D331Y |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,002,594 (GRCm39) |
V1073A |
probably benign |
Het |
| Mfsd4b1 |
T |
A |
10: 39,879,115 (GRCm39) |
M261L |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,498 (GRCm39) |
D1321E |
probably damaging |
Het |
| Or4f59 |
A |
G |
2: 111,872,720 (GRCm39) |
I219T |
possibly damaging |
Het |
| Or52j3 |
A |
G |
7: 102,836,286 (GRCm39) |
I159M |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,550 (GRCm39) |
V199A |
probably benign |
Het |
| Or6c76b |
T |
A |
10: 129,692,936 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or8g32 |
G |
T |
9: 39,305,252 (GRCm39) |
S55I |
probably damaging |
Het |
| Ppp1r10 |
G |
T |
17: 36,242,053 (GRCm39) |
R857L |
unknown |
Het |
| Prune2 |
T |
A |
19: 17,145,656 (GRCm39) |
I2752N |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,400 (GRCm39) |
I859T |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,031,075 (GRCm39) |
D510G |
probably damaging |
Het |
| Sema3g |
C |
A |
14: 30,943,744 (GRCm39) |
P208H |
probably benign |
Het |
| Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
| Tnfsf13b |
A |
T |
8: 10,081,411 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,679,024 (GRCm39) |
V235A |
probably damaging |
Het |
| Vmn2r44 |
C |
A |
7: 8,383,103 (GRCm39) |
|
probably null |
Het |
| Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
probably benign |
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation