Incidental Mutation 'R5624:Clcn4'
ID 441730
Institutional Source Beutler Lab
Gene Symbol Clcn4
Ensembl Gene ENSMUSG00000000605
Gene Name chloride channel, voltage-sensitive 4
Synonyms Clc4-2, Clcn4-2
MMRRC Submission 043163-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5624 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 7285308-7303837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7291943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 623 (V623L)
Ref Sequence ENSEMBL: ENSMUSP00000000619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000619] [ENSMUST00000210061] [ENSMUST00000210594] [ENSMUST00000211574]
AlphaFold Q61418
Predicted Effect probably benign
Transcript: ENSMUST00000000619
AA Change: V623L

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: V623L

DomainStartEndE-ValueType
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: ENSMUST00000210061
AA Change: V592L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210444
Predicted Effect probably benign
Transcript: ENSMUST00000210594
AA Change: V563L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000211574
Meta Mutation Damage Score 0.6939 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 T A 8: 120,341,844 (GRCm39) probably null Het
Aoah A T 13: 21,179,649 (GRCm39) N372I probably damaging Het
Ash1l T A 3: 88,892,916 (GRCm39) D1598E probably damaging Het
Bcas2 T C 3: 103,080,577 (GRCm39) C72R probably benign Het
Car9 T A 4: 43,509,146 (GRCm39) F238Y probably benign Het
Ccnd1 T C 7: 144,491,749 (GRCm39) S97G probably benign Het
Cfap52 C G 11: 67,818,184 (GRCm39) C509S possibly damaging Het
Dnajc11 T C 4: 152,063,967 (GRCm39) V483A probably benign Het
E2f8 G T 7: 48,527,709 (GRCm39) D144E probably damaging Het
Epb41l1 G A 2: 156,375,691 (GRCm39) probably benign Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Fzd8 G A 18: 9,213,268 (GRCm39) G117S unknown Het
Gsdmc4 A G 15: 63,764,503 (GRCm39) M379T possibly damaging Het
Hemk1 T C 9: 107,208,727 (GRCm39) R157G probably benign Het
Il10 A G 1: 130,951,940 (GRCm39) M158V probably benign Het
Jmjd1c G A 10: 67,069,193 (GRCm39) M1656I probably damaging Het
Kit A T 5: 75,770,054 (GRCm39) K155N probably benign Het
Lmtk3 C A 7: 45,436,286 (GRCm39) A114E probably damaging Het
Lztr1 A G 16: 17,329,993 (GRCm39) probably benign Het
Mras A G 9: 99,293,538 (GRCm39) F34S probably damaging Het
Myo1c A G 11: 75,553,461 (GRCm39) T516A probably damaging Het
Nme8 A C 13: 19,862,038 (GRCm39) V197G possibly damaging Het
Or13p5 T A 4: 118,592,568 (GRCm39) Y281N probably damaging Het
Or8k39 T C 2: 86,563,149 (GRCm39) D269G probably benign Het
Pcdhb9 A T 18: 37,534,459 (GRCm39) Y151F probably benign Het
Pcnx2 C T 8: 126,488,262 (GRCm39) probably null Het
Plekhg4 T C 8: 106,107,382 (GRCm39) F892S probably damaging Het
Prmt3 T A 7: 49,430,082 (GRCm39) F62I probably damaging Het
Ralgapa1 T C 12: 55,659,523 (GRCm39) Y1999C probably damaging Het
Rims2 A T 15: 39,208,809 (GRCm39) Q204L possibly damaging Het
Slc6a16 T G 7: 44,910,532 (GRCm39) H352Q probably benign Het
Snx9 T A 17: 5,942,084 (GRCm39) C70* probably null Het
Srprb A G 9: 103,074,800 (GRCm39) I114T probably damaging Het
Tas2r119 A T 15: 32,178,114 (GRCm39) I227F probably damaging Het
Tasor2 A G 13: 3,634,996 (GRCm39) S604P possibly damaging Het
Tg A T 15: 66,709,906 (GRCm39) Y163F probably benign Het
Tm2d2 A G 8: 25,512,784 (GRCm39) T211A probably damaging Het
Tmem132b A G 5: 125,699,710 (GRCm39) S83G probably benign Het
Trav9-4 T C 14: 53,913,886 (GRCm39) S47P probably benign Het
Vmn2r8 T A 5: 108,950,325 (GRCm39) H174L probably damaging Het
Xrcc1 A G 7: 24,259,270 (GRCm39) D85G possibly damaging Het
Zfp106 C G 2: 120,362,438 (GRCm39) A34P probably damaging Het
Zfp608 A T 18: 55,031,344 (GRCm39) N865K probably damaging Het
Zscan5b A G 7: 6,233,518 (GRCm39) D114G probably benign Het
Other mutations in Clcn4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGAAGTCCTCAACTCAAGGAAC -3'
(R):5'- GCTGATGCCTTTGGGAAAGAAG -3'

Sequencing Primer
(F):5'- AGGAACTCCCTGGAACTCATGTG -3'
(R):5'- GGATTTATGAAGCCCACATCCATCTG -3'
Posted On 2016-11-08