Incidental Mutation 'R4024:Clcn4'
| ID |
313394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn4
|
| Ensembl Gene |
ENSMUSG00000000605 |
| Gene Name |
chloride channel, voltage-sensitive 4 |
| Synonyms |
Clc4-2, Clcn4-2 |
| MMRRC Submission |
041612-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4024 (G1)
|
| Quality Score |
126 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 7293427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 443
(Y443S)
|
| 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: Y503S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: Y503S
| 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: ENSMUST00000209916
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210061
AA Change: Y472S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210594
AA Change: Y443S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
| Meta Mutation Damage Score |
0.9704 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (58/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,215,251 (GRCm39) |
Y842H |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,849,765 (GRCm39) |
|
probably benign |
Het |
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,869,054 (GRCm39) |
S37P |
probably benign |
Het |
| Bhmt2 |
G |
A |
13: 93,799,839 (GRCm39) |
|
probably benign |
Het |
| Bpifb1 |
A |
T |
2: 154,054,966 (GRCm39) |
D286V |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,705,539 (GRCm38) |
E285D |
probably damaging |
Het |
| Cap2 |
C |
T |
13: 46,791,317 (GRCm39) |
|
probably benign |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Cmip |
A |
G |
8: 118,174,155 (GRCm39) |
I412V |
possibly damaging |
Het |
| Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
| Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,324,147 (GRCm39) |
S565G |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,457,821 (GRCm39) |
Y60C |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,377,074 (GRCm39) |
V170A |
possibly damaging |
Het |
| Foxk2 |
T |
A |
11: 121,176,439 (GRCm39) |
I195N |
possibly damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gpr6 |
G |
A |
10: 40,947,264 (GRCm39) |
T106M |
probably damaging |
Het |
| Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
| Hnmt |
T |
C |
2: 23,893,777 (GRCm39) |
D239G |
probably benign |
Het |
| Igf2 |
A |
G |
7: 142,208,044 (GRCm39) |
V111A |
probably benign |
Het |
| Lrriq3 |
G |
A |
3: 154,893,939 (GRCm39) |
E547K |
probably benign |
Het |
| Lrriq4 |
T |
C |
3: 30,704,422 (GRCm39) |
V150A |
possibly damaging |
Het |
| Mroh8 |
A |
G |
2: 157,098,272 (GRCm39) |
V292A |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,898,776 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
T |
C |
2: 147,026,154 (GRCm39) |
T195A |
probably benign |
Het |
| Or10aa3 |
C |
T |
1: 173,878,683 (GRCm39) |
T248I |
probably benign |
Het |
| Or2t47 |
G |
A |
11: 58,442,222 (GRCm39) |
T281I |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,810,949 (GRCm39) |
Y262* |
probably null |
Het |
| Or8w1 |
T |
A |
2: 87,465,499 (GRCm39) |
L197F |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,309,207 (GRCm39) |
V233A |
probably damaging |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Sash1 |
T |
C |
10: 8,605,681 (GRCm39) |
D903G |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,937,674 (GRCm39) |
D1681G |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,610,809 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Tlr11 |
C |
T |
14: 50,600,303 (GRCm39) |
T763I |
probably benign |
Het |
| Ttbk2 |
T |
C |
2: 120,590,736 (GRCm39) |
T308A |
possibly damaging |
Het |
| Tyk2 |
G |
A |
9: 21,027,215 (GRCm39) |
L552F |
probably damaging |
Het |
| Ubp1 |
A |
G |
9: 113,773,951 (GRCm39) |
D50G |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,873,915 (GRCm39) |
I1172N |
possibly damaging |
Het |
| Usf3 |
T |
A |
16: 44,036,528 (GRCm39) |
V336E |
possibly damaging |
Het |
| Vangl2 |
T |
C |
1: 171,835,608 (GRCm39) |
S355G |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,061 (GRCm39) |
D248G |
probably damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,117,510 (GRCm39) |
V701A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,071,961 (GRCm39) |
|
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,544 (GRCm39) |
C258S |
possibly damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTTGAATGGCTGGACAG -3'
(R):5'- TCCTTCGAGATTCCCTCAGG -3'
Sequencing Primer
(F):5'- TGTGTTGAACAAGGCATGAACTACC -3'
(R):5'- AGGTCTCTTCATCCCCAGTATGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation