Incidental Mutation 'IGL02556:Clcn4'
| ID |
298502 |
| 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 # |
IGL02556
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7299065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 37
(T37A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000209916]
[ENSMUST00000210061]
[ENSMUST00000210362]
[ENSMUST00000211574]
[ENSMUST00000210594]
|
| AlphaFold |
Q61418 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000619
AA Change: T37A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: T37A
| 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 benign
Transcript: ENSMUST00000210061
AA Change: T37A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210989
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
G |
10: 100,446,579 (GRCm39) |
|
probably null |
Het |
| Ace |
A |
G |
11: 105,863,353 (GRCm39) |
D376G |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,458,654 (GRCm39) |
T1252I |
probably damaging |
Het |
| Bhmt |
T |
C |
13: 93,774,008 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,425,186 (GRCm39) |
|
probably benign |
Het |
| Cnmd |
C |
T |
14: 79,899,400 (GRCm39) |
V18I |
probably benign |
Het |
| Cryl1 |
C |
T |
14: 57,513,478 (GRCm39) |
V248M |
probably benign |
Het |
| D830039M14Rik |
C |
T |
10: 61,311,262 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,331,128 (GRCm39) |
T107A |
possibly damaging |
Het |
| Efna5 |
C |
A |
17: 62,958,023 (GRCm39) |
V78F |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,503,625 (GRCm39) |
I741V |
probably benign |
Het |
| Gfap |
A |
G |
11: 102,787,780 (GRCm39) |
L55P |
probably damaging |
Het |
| Itga6 |
A |
G |
2: 71,669,027 (GRCm39) |
I606V |
probably benign |
Het |
| Kif2c |
G |
T |
4: 117,019,802 (GRCm39) |
D579E |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,988,442 (GRCm39) |
|
probably null |
Het |
| Lrrc1 |
T |
A |
9: 77,342,404 (GRCm39) |
I357L |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,109 (GRCm39) |
S2620P |
probably benign |
Het |
| Map3k20 |
T |
A |
2: 72,202,239 (GRCm39) |
F157I |
probably damaging |
Het |
| Naga |
A |
T |
15: 82,214,337 (GRCm39) |
N391K |
probably damaging |
Het |
| Ncaph |
T |
C |
2: 126,968,025 (GRCm39) |
|
probably benign |
Het |
| Or11g2 |
C |
A |
14: 50,856,185 (GRCm39) |
Q169K |
probably benign |
Het |
| Or12d13 |
T |
A |
17: 37,647,887 (GRCm39) |
M79L |
probably benign |
Het |
| Or5ae1 |
T |
G |
7: 84,565,567 (GRCm39) |
Y193* |
probably null |
Het |
| Or6b9 |
T |
A |
7: 106,555,598 (GRCm39) |
I182F |
possibly damaging |
Het |
| Or6c2b |
T |
G |
10: 128,947,904 (GRCm39) |
Y130S |
probably damaging |
Het |
| Or8g55 |
T |
A |
9: 39,784,906 (GRCm39) |
C112S |
possibly damaging |
Het |
| Pappa |
C |
A |
4: 65,074,863 (GRCm39) |
D472E |
possibly damaging |
Het |
| Pdxk |
G |
A |
10: 78,287,319 (GRCm39) |
L81F |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,380,934 (GRCm39) |
T2635K |
probably damaging |
Het |
| Psmb6 |
A |
T |
11: 70,417,248 (GRCm39) |
H99L |
possibly damaging |
Het |
| Ptpn6 |
C |
T |
6: 124,705,623 (GRCm39) |
G135E |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,972,844 (GRCm39) |
D251E |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,689,234 (GRCm39) |
V1955A |
possibly damaging |
Het |
| Rsph4a |
T |
C |
10: 33,781,148 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
T |
C |
14: 40,542,700 (GRCm39) |
T359A |
probably benign |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,087 (GRCm39) |
D348G |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,797,932 (GRCm39) |
M217K |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,711,054 (GRCm39) |
L49P |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,956,173 (GRCm39) |
M288I |
probably benign |
Het |
| Tmem127 |
C |
A |
2: 127,097,922 (GRCm39) |
|
probably null |
Het |
| Tnfrsf17 |
T |
C |
16: 11,131,811 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,277,967 (GRCm39) |
N341I |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 38,002,692 (GRCm39) |
I1453T |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,944,709 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
T |
C |
2: 146,880,216 (GRCm39) |
|
probably benign |
Het |
| Zscan10 |
C |
T |
17: 23,827,119 (GRCm39) |
A144V |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation