Incidental Mutation 'IGL02493:Clcn4'
ID |
295728 |
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 # |
IGL02493
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 7287243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 728
(D728E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000210061]
[ENSMUST00000210594]
|
AlphaFold |
Q61418 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000619
AA Change: D728E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000000619 Gene: ENSMUSG00000000605 AA Change: D728E
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 |
possibly damaging
Transcript: ENSMUST00000210061
AA Change: D697E
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210594
AA Change: D668E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
G |
15: 59,888,312 (GRCm39) |
S43R |
probably benign |
Het |
Afap1l1 |
G |
T |
18: 61,870,594 (GRCm39) |
Q595K |
possibly damaging |
Het |
Alpk2 |
T |
C |
18: 65,483,402 (GRCm39) |
E202G |
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,540,528 (GRCm39) |
V150A |
probably damaging |
Het |
Bcas3 |
T |
C |
11: 85,386,708 (GRCm39) |
I381T |
probably damaging |
Het |
Best3 |
A |
T |
10: 116,860,506 (GRCm39) |
R589W |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,959,054 (GRCm39) |
|
probably benign |
Het |
Commd2 |
C |
A |
3: 57,559,080 (GRCm39) |
|
probably benign |
Het |
Csrp1 |
T |
A |
1: 135,678,801 (GRCm39) |
F175L |
probably damaging |
Het |
Eif3c |
A |
T |
7: 126,158,073 (GRCm39) |
N294K |
probably damaging |
Het |
Fam184a |
A |
G |
10: 53,570,789 (GRCm39) |
|
probably null |
Het |
Fndc1 |
G |
T |
17: 7,994,377 (GRCm39) |
P297Q |
unknown |
Het |
Galnt13 |
A |
G |
2: 54,770,149 (GRCm39) |
I314V |
probably benign |
Het |
Gimap6 |
T |
A |
6: 48,679,603 (GRCm39) |
K144N |
probably damaging |
Het |
Gm10188 |
A |
T |
1: 132,157,143 (GRCm39) |
C74* |
probably null |
Het |
Gpatch2 |
C |
T |
1: 186,965,325 (GRCm39) |
|
probably benign |
Het |
Hace1 |
T |
A |
10: 45,464,515 (GRCm39) |
M39K |
probably damaging |
Het |
Has2 |
G |
T |
15: 56,531,320 (GRCm39) |
T465K |
probably damaging |
Het |
Homer3 |
T |
A |
8: 70,742,721 (GRCm39) |
V144D |
probably benign |
Het |
Ift140 |
A |
T |
17: 25,306,898 (GRCm39) |
K878* |
probably null |
Het |
Ikbip |
A |
G |
10: 90,932,456 (GRCm39) |
N367D |
probably damaging |
Het |
Immt |
T |
C |
6: 71,821,700 (GRCm39) |
|
probably benign |
Het |
Isca1 |
A |
G |
13: 59,910,596 (GRCm39) |
V32A |
possibly damaging |
Het |
Kcnu1 |
T |
A |
8: 26,427,548 (GRCm39) |
N288K |
possibly damaging |
Het |
Kmt2b |
C |
T |
7: 30,268,936 (GRCm39) |
|
probably benign |
Het |
Lrguk |
T |
A |
6: 34,106,127 (GRCm39) |
D717E |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,417,647 (GRCm39) |
G1037E |
probably damaging |
Het |
Man2a2 |
T |
A |
7: 80,019,363 (GRCm39) |
Q37L |
possibly damaging |
Het |
Msh4 |
C |
T |
3: 153,583,545 (GRCm39) |
|
probably null |
Het |
Mtf1 |
C |
T |
4: 124,715,112 (GRCm39) |
R246W |
probably damaging |
Het |
Mvb12b |
A |
G |
2: 33,730,221 (GRCm39) |
S57P |
probably benign |
Het |
Nat8f5 |
A |
G |
6: 85,794,544 (GRCm39) |
F139L |
probably benign |
Het |
Npepps |
A |
G |
11: 97,128,985 (GRCm39) |
F400L |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,708,390 (GRCm39) |
S248T |
possibly damaging |
Het |
Oplah |
G |
A |
15: 76,185,155 (GRCm39) |
R853* |
probably null |
Het |
Or5b98 |
T |
C |
19: 12,931,138 (GRCm39) |
F62L |
probably benign |
Het |
Or5p57 |
A |
T |
7: 107,665,012 (GRCm39) |
M331K |
possibly damaging |
Het |
Plekhh2 |
G |
A |
17: 84,914,391 (GRCm39) |
|
probably null |
Het |
Pskh1 |
G |
A |
8: 106,656,388 (GRCm39) |
V355I |
probably benign |
Het |
Rab31 |
A |
T |
17: 66,024,547 (GRCm39) |
M44K |
possibly damaging |
Het |
Slc5a4b |
A |
G |
10: 75,910,849 (GRCm39) |
V329A |
probably damaging |
Het |
Slc5a7 |
A |
G |
17: 54,600,908 (GRCm39) |
Y76H |
probably damaging |
Het |
Trappc14 |
T |
C |
5: 138,261,432 (GRCm39) |
|
probably null |
Het |
Treh |
A |
T |
9: 44,594,246 (GRCm39) |
D164V |
possibly damaging |
Het |
Trim6 |
A |
G |
7: 103,881,847 (GRCm39) |
Y366C |
probably benign |
Het |
Ubr7 |
T |
C |
12: 102,734,479 (GRCm39) |
V251A |
probably benign |
Het |
Vmn1r35 |
T |
A |
6: 66,656,463 (GRCm39) |
N69I |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,433,968 (GRCm39) |
L2255P |
unknown |
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 |
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 |
2015-04-16 |