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) question?
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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