Incidental Mutation 'R6259:Clcn4'
ID |
506549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcn4
|
Ensembl Gene |
ENSMUSG00000000605 |
Gene Name |
chloride channel, voltage-sensitive 4 |
Synonyms |
Clc4-2, Clcn4-2 |
MMRRC Submission |
044376-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6259 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 7294529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 351
(R351W)
|
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: R411W
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000000619 Gene: ENSMUSG00000000605 AA Change: R411W
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 |
possibly damaging
Transcript: ENSMUST00000210061
AA Change: R380W
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210318
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210594
AA Change: R351W
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211551
|
Meta Mutation Damage Score |
0.1952 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
Validation Efficiency |
99% (74/75) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
C |
A |
12: 18,584,120 (GRCm39) |
N393K |
probably benign |
Het |
Acap3 |
A |
T |
4: 155,980,575 (GRCm39) |
I19F |
possibly damaging |
Het |
Acsbg3 |
A |
G |
17: 57,184,513 (GRCm39) |
Y96C |
probably benign |
Het |
Adamts5 |
C |
T |
16: 85,696,641 (GRCm39) |
R172H |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,156,483 (GRCm39) |
F416L |
possibly damaging |
Het |
Amy1 |
T |
C |
3: 113,363,059 (GRCm39) |
D96G |
possibly damaging |
Het |
Ank2 |
A |
G |
3: 126,810,635 (GRCm39) |
S484P |
probably benign |
Het |
Arsa |
A |
G |
15: 89,359,724 (GRCm39) |
C68R |
probably damaging |
Het |
Asprv1 |
A |
G |
6: 86,605,361 (GRCm39) |
Y69C |
probably benign |
Het |
Ass1 |
A |
G |
2: 31,378,654 (GRCm39) |
E162G |
possibly damaging |
Het |
Atf7 |
G |
T |
15: 102,455,673 (GRCm39) |
N230K |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,092,065 (GRCm39) |
M367V |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,861,050 (GRCm39) |
Y179C |
probably damaging |
Het |
BC004004 |
A |
T |
17: 29,517,686 (GRCm39) |
Q300L |
possibly damaging |
Het |
Bglap3 |
A |
T |
3: 88,276,067 (GRCm39) |
I95N |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,616,630 (GRCm39) |
|
probably null |
Het |
Caskin2 |
C |
T |
11: 115,691,279 (GRCm39) |
G1141D |
probably damaging |
Het |
Col11a1 |
T |
C |
3: 113,932,096 (GRCm39) |
C89R |
probably benign |
Het |
Csrp1 |
T |
G |
1: 135,667,252 (GRCm39) |
|
probably null |
Het |
Cwf19l2 |
T |
C |
9: 3,458,879 (GRCm39) |
I776T |
probably damaging |
Het |
Cyp2b19 |
A |
T |
7: 26,470,817 (GRCm39) |
Q486L |
possibly damaging |
Het |
Cyp2j9 |
T |
A |
4: 96,472,243 (GRCm39) |
Y165F |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dennd1c |
G |
A |
17: 57,374,104 (GRCm39) |
R522C |
probably damaging |
Het |
Dmgdh |
T |
C |
13: 93,888,816 (GRCm39) |
V818A |
probably benign |
Het |
Dst |
T |
A |
1: 34,221,477 (GRCm39) |
V2427E |
probably benign |
Het |
Duox1 |
C |
T |
2: 122,175,264 (GRCm39) |
T1354M |
probably benign |
Het |
Ehbp1 |
A |
G |
11: 22,235,684 (GRCm39) |
|
probably benign |
Het |
Epc2 |
T |
A |
2: 49,378,866 (GRCm39) |
|
probably null |
Het |
Eya2 |
T |
C |
2: 165,558,019 (GRCm39) |
V205A |
probably benign |
Het |
Fat4 |
A |
G |
3: 39,061,395 (GRCm39) |
H4326R |
probably benign |
Het |
Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
Gm10100 |
G |
T |
10: 77,562,498 (GRCm39) |
C60F |
possibly damaging |
Het |
Hhip |
T |
A |
8: 80,699,033 (GRCm39) |
R678W |
probably damaging |
Het |
Il21r |
T |
A |
7: 125,229,891 (GRCm39) |
I266K |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,744,970 (GRCm39) |
S1689P |
probably damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,566,128 (GRCm39) |
E317G |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lratd1 |
T |
A |
12: 14,200,646 (GRCm39) |
D27V |
probably damaging |
Het |
Lrr1 |
A |
G |
12: 69,221,589 (GRCm39) |
N244D |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,586,450 (GRCm39) |
H422L |
probably benign |
Het |
Map4k5 |
A |
G |
12: 69,899,514 (GRCm39) |
S46P |
probably damaging |
Het |
Ngf |
A |
G |
3: 102,417,113 (GRCm39) |
|
probably benign |
Het |
Nploc4 |
T |
C |
11: 120,276,691 (GRCm39) |
I452V |
probably benign |
Het |
Oas1d |
T |
A |
5: 121,057,244 (GRCm39) |
Y283* |
probably null |
Het |
Or52h1 |
A |
T |
7: 103,829,261 (GRCm39) |
M118K |
possibly damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,264 (GRCm39) |
I18F |
probably benign |
Het |
Or5b109 |
A |
G |
19: 13,211,785 (GRCm39) |
H57R |
probably damaging |
Het |
Or5l13 |
T |
C |
2: 87,779,779 (GRCm39) |
N266S |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Peg3 |
A |
G |
7: 6,712,810 (GRCm39) |
V804A |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,250,749 (GRCm39) |
Y450F |
possibly damaging |
Het |
Pprc1 |
T |
A |
19: 46,052,849 (GRCm39) |
V789E |
probably damaging |
Het |
Prcc |
A |
G |
3: 87,769,454 (GRCm39) |
M436T |
possibly damaging |
Het |
Prepl |
A |
T |
17: 85,377,859 (GRCm39) |
V507D |
probably damaging |
Het |
Rag1 |
T |
A |
2: 101,474,797 (GRCm39) |
N115I |
possibly damaging |
Het |
Rap1gap |
T |
C |
4: 137,409,068 (GRCm39) |
|
probably null |
Het |
Reln |
A |
C |
5: 22,265,331 (GRCm39) |
F454V |
probably damaging |
Het |
Slc39a11 |
A |
T |
11: 113,354,780 (GRCm39) |
S150T |
probably benign |
Het |
Slc45a1 |
T |
A |
4: 150,722,817 (GRCm39) |
I356F |
possibly damaging |
Het |
Snrnp200 |
G |
A |
2: 127,060,343 (GRCm39) |
G529D |
possibly damaging |
Het |
Stkld1 |
A |
T |
2: 26,839,393 (GRCm39) |
D353V |
possibly damaging |
Het |
Susd2 |
T |
C |
10: 75,473,880 (GRCm39) |
S572G |
probably damaging |
Het |
Synrg |
T |
A |
11: 83,899,484 (GRCm39) |
D563E |
probably damaging |
Het |
Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
Tnfrsf8 |
A |
G |
4: 145,004,094 (GRCm39) |
|
probably null |
Het |
Trim26 |
C |
T |
17: 37,167,110 (GRCm39) |
A267V |
probably benign |
Het |
Trpm1 |
T |
G |
7: 63,918,226 (GRCm39) |
F522C |
possibly damaging |
Het |
Uggt1 |
T |
C |
1: 36,273,997 (GRCm39) |
I29V |
probably benign |
Het |
Unc5d |
C |
T |
8: 29,156,820 (GRCm39) |
M808I |
probably benign |
Het |
Vmn2r108 |
T |
A |
17: 20,683,371 (GRCm39) |
D611V |
possibly damaging |
Het |
Vps13a |
A |
C |
19: 16,664,534 (GRCm39) |
Y1436* |
probably null |
Het |
Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
Zfp518a |
G |
T |
19: 40,901,225 (GRCm39) |
V385F |
probably benign |
Het |
Zfp541 |
C |
T |
7: 15,829,451 (GRCm39) |
A1222V |
probably benign |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
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 |
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 |
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'- AGGATAATTAGCTGTCTCCCAC -3'
(R):5'- TTCACACGCTGCAACATTG -3'
Sequencing Primer
(F):5'- GATAATTAGCTGTCTCCCACTCCCC -3'
(R):5'- TAAGACCACCAGGCTGGG -3'
|
Posted On |
2018-03-15 |