Incidental Mutation 'IGL02123:Cldn11'
ID 280713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn11
Ensembl Gene ENSMUSG00000037625
Gene Name claudin 11
Synonyms Otm, Osp, oligodendrocyte-specific protein
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # IGL02123
Quality Score
Status
Chromosome 3
Chromosomal Location 31204069-31218473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31204336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 13 (T13M)
Ref Sequence ENSEMBL: ENSMUSP00000042181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046174]
AlphaFold Q60771
Predicted Effect probably benign
Transcript: ENSMUST00000046174
AA Change: T13M

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000042181
Gene: ENSMUSG00000037625
AA Change: T13M

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 175 2.6e-22 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 a major component of CNS (central nervous system) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. The basal cell tight junctions in stria vascularis are primarily composed of this protein, and the gene-null mice suffer severe deafness. This protein is also an obligatory protein for tight junction formation and barrier integrity in the testis and the gene deficiency results in loss of the Sertoli cell epithelial phenotype in the testis. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous null mice exhibit tremors, impaired coordination, hindlimb weakness, abnormal myelination of the cranial nerves, increased auditory thresholds, and abnormal stria vascularis. Mutant males have small testes, abnormal seminiferous tubules, and sperm abnormalities resulting in infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T C 7: 28,328,914 (GRCm39) T31A probably benign Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ampd3 T C 7: 110,401,766 (GRCm39) V429A possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cngb3 C A 4: 19,367,801 (GRCm39) Q237K probably damaging Het
Col12a1 A G 9: 79,569,740 (GRCm39) probably null Het
Copa T A 1: 171,939,695 (GRCm39) L621H probably damaging Het
Dbn1 T C 13: 55,624,553 (GRCm39) D332G possibly damaging Het
Drc1 T C 5: 30,504,448 (GRCm39) S197P probably benign Het
E2f2 A G 4: 135,900,159 (GRCm39) N23S probably benign Het
Epb41l2 T A 10: 25,336,742 (GRCm39) L246H probably damaging Het
Fam13b G A 18: 34,578,671 (GRCm39) probably benign Het
Fam184b A G 5: 45,796,493 (GRCm39) M30T possibly damaging Het
Fn3krp G A 11: 121,320,270 (GRCm39) R205H probably benign Het
Fndc11 A G 2: 180,863,443 (GRCm39) I83V probably benign Het
Garin2 T C 12: 78,780,981 (GRCm39) probably null Het
Gm3629 C T 14: 17,834,541 (GRCm39) R150H probably benign Het
Hs6st1 T A 1: 36,142,952 (GRCm39) F296I possibly damaging Het
Igsf10 T A 3: 59,226,081 (GRCm39) I2531F probably damaging Het
Klhl40 T C 9: 121,608,989 (GRCm39) F385L probably benign Het
Krt87 A T 15: 101,385,466 (GRCm39) M302K possibly damaging Het
Lrrc43 A T 5: 123,632,342 (GRCm39) I162F probably damaging Het
Map3k21 A G 8: 126,652,849 (GRCm39) E325G probably damaging Het
Mpo A T 11: 87,685,621 (GRCm39) N33I probably benign Het
Mpp4 A G 1: 59,200,625 (GRCm39) probably null Het
Muc5b C T 7: 141,417,494 (GRCm39) T3480I possibly damaging Het
Myo6 T C 9: 80,171,554 (GRCm39) probably benign Het
Nostrin C T 2: 68,986,453 (GRCm39) probably benign Het
Nphp1 T C 2: 127,595,969 (GRCm39) M498V probably benign Het
Nr4a2 A T 2: 57,001,667 (GRCm39) L199Q possibly damaging Het
Pcdhb6 A T 18: 37,468,873 (GRCm39) N598I probably damaging Het
Pex19 T A 1: 171,961,853 (GRCm39) M207K probably damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Plekha2 T C 8: 25,532,745 (GRCm39) K409E probably damaging Het
Plxna2 T C 1: 194,476,691 (GRCm39) L1169P probably damaging Het
Pmpcb A G 5: 21,948,373 (GRCm39) probably benign Het
Ptrh1 T C 2: 32,666,826 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,288,265 (GRCm39) E439G probably damaging Het
Ric1 C T 19: 29,572,200 (GRCm39) A665V probably benign Het
Stx18 T A 5: 38,285,447 (GRCm39) V219D probably damaging Het
Taf7 A T 18: 37,775,533 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,415,988 (GRCm39) I895T possibly damaging Het
Tbc1d8 A G 1: 39,419,317 (GRCm39) S766P probably damaging Het
Tekt3 C A 11: 62,974,766 (GRCm39) H362N probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tmem94 T C 11: 115,678,364 (GRCm39) S196P possibly damaging Het
Vmn2r14 T C 5: 109,367,933 (GRCm39) Y353C probably damaging Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vmn2r90 T G 17: 17,953,744 (GRCm39) M636R probably benign Het
Vmn2r98 T A 17: 19,300,941 (GRCm39) C648S probably damaging Het
Zfpm2 G A 15: 40,965,591 (GRCm39) C560Y probably damaging Het
Other mutations in Cldn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02403:Cldn11 APN 3 31,204,345 (GRCm39) missense probably benign 0.00
IGL03047:Cldn11 UTSW 3 31,217,256 (GRCm39) missense probably damaging 1.00
R2122:Cldn11 UTSW 3 31,217,300 (GRCm39) missense probably damaging 1.00
R4082:Cldn11 UTSW 3 31,217,278 (GRCm39) missense probably benign 0.00
R5589:Cldn11 UTSW 3 31,204,395 (GRCm39) missense probably damaging 0.96
R7591:Cldn11 UTSW 3 31,204,436 (GRCm39) missense probably benign 0.24
R8174:Cldn11 UTSW 3 31,208,210 (GRCm39) missense probably benign 0.12
R8357:Cldn11 UTSW 3 31,217,342 (GRCm39) missense probably benign 0.10
R8457:Cldn11 UTSW 3 31,217,342 (GRCm39) missense probably benign 0.10
R8694:Cldn11 UTSW 3 31,217,239 (GRCm39) missense probably damaging 1.00
R9098:Cldn11 UTSW 3 31,217,276 (GRCm39) missense probably damaging 1.00
R9376:Cldn11 UTSW 3 31,217,410 (GRCm39) missense possibly damaging 0.69
Z1176:Cldn11 UTSW 3 31,204,455 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16