Incidental Mutation 'R5302:Clcn4'
ID |
404300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcn4
|
Ensembl Gene |
ENSMUSG00000000605 |
Gene Name |
chloride channel, voltage-sensitive 4 |
Synonyms |
Clc4-2, Clcn4-2 |
MMRRC Submission |
042885-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5302 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7297050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 136
(V136A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147562
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000209916]
[ENSMUST00000210061]
[ENSMUST00000210362]
[ENSMUST00000210594]
[ENSMUST00000211574]
|
AlphaFold |
Q61418 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000619
AA Change: V196A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000000619 Gene: ENSMUSG00000000605 AA Change: V196A
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: V196A
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210318
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
AA Change: V124A
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210594
AA Change: V136A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211551
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210809
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210989
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,323,111 (GRCm39) |
V1657A |
possibly damaging |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Acot5 |
A |
G |
12: 84,120,215 (GRCm39) |
Y190C |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,583,873 (GRCm39) |
Y941N |
probably benign |
Het |
BC035947 |
A |
T |
1: 78,488,599 (GRCm39) |
M1K |
probably null |
Het |
C2cd5 |
A |
G |
6: 143,019,482 (GRCm39) |
C278R |
probably benign |
Het |
Cd200r1 |
G |
T |
16: 44,613,172 (GRCm39) |
L259F |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 116,085,300 (GRCm39) |
S413P |
probably benign |
Het |
Corin |
T |
A |
5: 72,473,441 (GRCm39) |
E748D |
probably benign |
Het |
Crtc2 |
G |
T |
3: 90,168,325 (GRCm39) |
G356V |
probably damaging |
Het |
D1Pas1 |
T |
A |
1: 186,701,642 (GRCm39) |
Y524N |
probably damaging |
Het |
Dlgap4 |
T |
C |
2: 156,602,818 (GRCm39) |
S147P |
probably damaging |
Het |
Eif1ad16 |
T |
A |
12: 87,985,316 (GRCm39) |
I76F |
probably damaging |
Het |
Enpp1 |
A |
T |
10: 24,527,288 (GRCm39) |
I633N |
probably benign |
Het |
Gm3095 |
A |
G |
14: 15,170,367 (GRCm39) |
D72G |
probably null |
Het |
Gm5449 |
C |
T |
13: 53,679,787 (GRCm39) |
|
noncoding transcript |
Het |
Gpx7 |
T |
C |
4: 108,258,111 (GRCm39) |
T161A |
probably benign |
Het |
Grip1 |
T |
C |
10: 119,855,982 (GRCm39) |
L236P |
probably damaging |
Het |
H2-Q2 |
G |
T |
17: 35,563,885 (GRCm39) |
R255S |
probably damaging |
Het |
Il17rc |
G |
T |
6: 113,459,997 (GRCm39) |
A648S |
possibly damaging |
Het |
Klhl12 |
A |
G |
1: 134,417,189 (GRCm39) |
E540G |
possibly damaging |
Het |
Mcm10 |
T |
C |
2: 5,012,181 (GRCm39) |
I135V |
probably benign |
Het |
Mrps26 |
C |
A |
2: 130,406,087 (GRCm39) |
T100K |
probably benign |
Het |
Nid2 |
A |
G |
14: 19,829,769 (GRCm39) |
T687A |
probably benign |
Het |
Npas3 |
A |
T |
12: 54,115,619 (GRCm39) |
D829V |
probably damaging |
Het |
Ocln |
T |
C |
13: 100,642,807 (GRCm39) |
D176G |
probably damaging |
Het |
Or11h6 |
A |
G |
14: 50,879,776 (GRCm39) |
|
probably null |
Het |
Pax3 |
A |
C |
1: 78,098,249 (GRCm39) |
M380R |
possibly damaging |
Het |
Pcdha3 |
A |
G |
18: 37,081,208 (GRCm39) |
E650G |
probably damaging |
Het |
Pdcd11 |
C |
A |
19: 47,096,083 (GRCm39) |
H668N |
probably damaging |
Het |
Polr3b |
T |
C |
10: 84,535,264 (GRCm39) |
Y858H |
possibly damaging |
Het |
Pus10 |
T |
C |
11: 23,617,416 (GRCm39) |
|
probably null |
Het |
Raver1 |
T |
C |
9: 20,986,677 (GRCm39) |
D739G |
probably damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Slc26a11 |
T |
C |
11: 119,254,276 (GRCm39) |
L198P |
probably damaging |
Het |
Slc44a3 |
A |
G |
3: 121,303,962 (GRCm39) |
V258A |
probably damaging |
Het |
Socs7 |
T |
A |
11: 97,280,025 (GRCm39) |
I524N |
probably damaging |
Het |
Steap4 |
T |
A |
5: 8,025,547 (GRCm39) |
L36* |
probably null |
Het |
Svep1 |
G |
C |
4: 58,096,183 (GRCm39) |
T1479S |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,547,619 (GRCm39) |
V32184F |
probably damaging |
Het |
Vmn1r22 |
T |
C |
6: 57,877,960 (GRCm39) |
N6D |
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 |
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 |
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'- TGGGATGAGGTAGAGACTCC -3'
(R):5'- AAATAGCCTTCCATCCCTGTGAC -3'
Sequencing Primer
(F):5'- AGAAATGATGTCCCCTGTCAGTG -3'
(R):5'- ACTTAGGGAGTCTTGTTCATAGCC -3'
|
Posted On |
2016-07-22 |