Incidental Mutation 'IGL01876:Cldn6'
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ID178893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn6
Ensembl Gene ENSMUSG00000023906
Gene Nameclaudin 6
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01876
Quality Score
Status
Chromosome17
Chromosomal Location23679365-23682446 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 23681184 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 41 (V41F)
Ref Sequence ENSEMBL: ENSMUSP00000024699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024698] [ENSMUST00000024699] [ENSMUST00000085989] [ENSMUST00000167059]
Predicted Effect probably benign
Transcript: ENSMUST00000024698
SMART Domains Protein: ENSMUSP00000024698
Gene: ENSMUSG00000023905

DomainStartEndE-ValueType
Pfam:stn_TNFRSF12A 1 129 4.7e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000024699
AA Change: V41F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024699
Gene: ENSMUSG00000023906
AA Change: V41F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 2.5e-35 PFAM
Pfam:Claudin_2 15 183 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085989
SMART Domains Protein: ENSMUSP00000093236
Gene: ENSMUSG00000066720

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 9.7e-35 PFAM
Pfam:Claudin_2 15 183 8.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167059
SMART Domains Protein: ENSMUSP00000131574
Gene: ENSMUSG00000023905

DomainStartEndE-ValueType
Pfam:stn_TNFRSF12A 1 35 2.9e-13 PFAM
Pfam:stn_TNFRSF12A 32 94 1.1e-33 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is essential for blastocyst formation in preimplantation mouse embryos, and is invloved in and is crucial for the formation and maintenance of the epidermal permeability barrier. This gene is adjacent to another family member Cldn9 on chromosome 17. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele do not exhibit overt abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,190,522 S570P probably damaging Het
Ap3b2 T A 7: 81,473,854 probably null Het
Api5 A G 2: 94,418,954 probably benign Het
Arhgap1 A G 2: 91,650,219 probably null Het
BC003331 G T 1: 150,382,338 T182N probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
C330027C09Rik T C 16: 49,001,678 V223A probably damaging Het
Dctn1 G T 6: 83,197,921 V1032L probably damaging Het
Eef2 T A 10: 81,180,270 F488L probably benign Het
Fars2 A G 13: 36,537,311 T410A probably benign Het
Hnrnpc T C 14: 52,081,873 N91S probably null Het
Magel2 T C 7: 62,378,827 V493A possibly damaging Het
Olfr1222 A T 2: 89,125,737 probably null Het
Olfr199 A G 16: 59,216,019 V198A possibly damaging Het
Pcnx2 G T 8: 125,866,031 S731R probably benign Het
Plekhm1 A G 11: 103,376,751 L798P probably damaging Het
Prkd1 T C 12: 50,366,348 E680G probably damaging Het
Rabggta T C 14: 55,718,671 T140A probably damaging Het
Slc2a1 G A 4: 119,133,378 D236N probably benign Het
Sptlc1 C A 13: 53,374,012 V39F probably benign Het
Svs1 A T 6: 48,990,036 R639S possibly damaging Het
Vmn1r6 A G 6: 57,002,461 K36R probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdpcp T A 11: 21,813,383 D581E possibly damaging Het
Other mutations in Cldn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Cldn6 APN 17 23681724 unclassified probably benign
IGL02529:Cldn6 APN 17 23681317 missense probably damaging 0.98
R0681:Cldn6 UTSW 17 23681193 missense probably damaging 1.00
R0853:Cldn6 UTSW 17 23681464 missense probably damaging 0.99
R4133:Cldn6 UTSW 17 23681493 missense probably damaging 1.00
R4366:Cldn6 UTSW 17 23681520 missense probably benign 0.00
R4454:Cldn6 UTSW 17 23681086 splice site probably null
R4780:Cldn6 UTSW 17 23681247 missense probably benign 0.30
R7775:Cldn6 UTSW 17 23681607 missense probably damaging 1.00
R7778:Cldn6 UTSW 17 23681607 missense probably damaging 1.00
R7824:Cldn6 UTSW 17 23681607 missense probably damaging 1.00
R7863:Cldn6 UTSW 17 23681122 missense probably benign 0.00
Posted On2014-05-07