Incidental Mutation 'IGL02937:Cldn1'
ID364364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn1
Ensembl Gene ENSMUSG00000022512
Gene Nameclaudin 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02937
Quality Score
Status
Chromosome16
Chromosomal Location26356642-26371841 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26360873 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 148 (F148S)
Ref Sequence ENSEMBL: ENSMUSP00000023154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023154]
Predicted Effect probably damaging
Transcript: ENSMUST00000023154
AA Change: F148S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023154
Gene: ENSMUSG00000022512
AA Change: F148S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2e-54 PFAM
Pfam:Claudin_2 15 184 4.4e-10 PFAM
low complexity region 187 205 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232215
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 knockout mice lacking this gene die soon after birth as a consequence of dehydration from trandermal water loss, indicating that this gene is indispensable for creating and maintaining the epidermal barrier. The protein encoded by this gene also has gastric tumor suppressive activity, and is a key factor for hepatitis C virus (HCV) entry. [provided by RefSeq, Aug 2010]
PHENOTYPE: Animals homozygous for a mutation in this gene have wrinkled skin and die within 1 day after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,294,753 C21Y probably damaging Het
4933427D06Rik T C 6: 89,108,145 noncoding transcript Het
5730480H06Rik A G 5: 48,379,441 I160V probably benign Het
Arhgap29 G A 3: 121,974,049 E47K probably damaging Het
Arhgef12 T A 9: 43,015,920 S303C probably damaging Het
Bap1 A G 14: 31,258,327 N644S probably benign Het
Cc2d1b A G 4: 108,631,894 E796G probably damaging Het
Cfh C A 1: 140,105,442 R788L probably benign Het
Cryzl1 A G 16: 91,690,731 M292T possibly damaging Het
Cyp11b1 T C 15: 74,836,559 R385G possibly damaging Het
Cyp4f37 T C 17: 32,625,189 L89P probably benign Het
Dach1 A G 14: 97,915,795 probably null Het
Ddx58 C T 4: 40,229,661 C86Y probably benign Het
Dhtkd1 A G 2: 5,917,905 I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 D44E probably damaging Het
Dsg1a T A 18: 20,331,534 I362N possibly damaging Het
Ecm2 T A 13: 49,518,476 I151N probably damaging Het
Far1 T A 7: 113,540,648 I101N probably damaging Het
Gm21985 T C 2: 112,341,862 S384P probably benign Het
Gnb5 T C 9: 75,340,189 Y247H probably damaging Het
Golgb1 A G 16: 36,916,210 K1940E probably damaging Het
Gprc5b A G 7: 118,983,794 V284A probably benign Het
Idh2 T C 7: 80,098,913 Y179C probably damaging Het
Kalrn G A 16: 34,220,130 Q737* probably null Het
Kcnj13 T C 1: 87,386,453 D349G probably damaging Het
Lgsn A T 1: 31,204,237 T467S possibly damaging Het
Map9 T A 3: 82,363,512 S128T possibly damaging Het
Mroh5 A G 15: 73,789,978 C455R probably damaging Het
Nes A G 3: 87,979,879 H1771R probably benign Het
Nkain2 T C 10: 32,329,844 Y65C probably damaging Het
Olfr303 T C 7: 86,394,590 K303E possibly damaging Het
Olfr623 A T 7: 103,660,905 V115D probably damaging Het
Olfr644 T A 7: 104,068,849 M61L probably damaging Het
Pabpc4l A C 3: 46,446,290 D306E probably benign Het
Parp12 A T 6: 39,102,581 Y332N probably damaging Het
Parvb A T 15: 84,308,953 K316M probably damaging Het
Pde8a T A 7: 81,295,771 probably benign Het
Polq A G 16: 37,013,109 T55A probably benign Het
Ppp2r5b T A 19: 6,230,986 K271M probably damaging Het
Ralgapb A G 2: 158,493,016 probably null Het
Skap2 T C 6: 51,909,371 N175D probably benign Het
Slc44a3 A G 3: 121,510,321 probably benign Het
Smurf2 G A 11: 106,846,047 H318Y probably damaging Het
Tbc1d23 T C 16: 57,184,415 T460A possibly damaging Het
Tcerg1 T C 18: 42,524,349 S299P unknown Het
Tll1 A C 8: 64,205,285 Y33* probably null Het
Tmem59 A T 4: 107,197,585 T196S probably damaging Het
Ttll4 C A 1: 74,679,503 A171D possibly damaging Het
Ttn T C 2: 76,811,169 T13528A possibly damaging Het
Ttn A G 2: 76,887,277 probably benign Het
Xpc C A 6: 91,500,137 G327W probably damaging Het
Zbtb7a A G 10: 81,144,298 S109G probably benign Het
Zfyve26 T C 12: 79,239,020 M2328V probably benign Het
Other mutations in Cldn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01471:Cldn1 APN 16 26371572 missense possibly damaging 0.59
R1626:Cldn1 UTSW 16 26371452 missense probably damaging 1.00
R2131:Cldn1 UTSW 16 26371550 missense probably damaging 0.98
R2264:Cldn1 UTSW 16 26359199 missense probably damaging 1.00
R3778:Cldn1 UTSW 16 26371466 missense probably damaging 1.00
R4850:Cldn1 UTSW 16 26363163 missense probably benign 0.04
R5711:Cldn1 UTSW 16 26371417 missense probably damaging 1.00
R5753:Cldn1 UTSW 16 26363121 missense probably benign 0.01
R6017:Cldn1 UTSW 16 26363219 missense probably damaging 1.00
R7134:Cldn1 UTSW 16 26371626 start codon destroyed probably null 0.98
R7199:Cldn1 UTSW 16 26371596 missense probably benign 0.06
R7373:Cldn1 UTSW 16 26360856 missense probably damaging 1.00
R7600:Cldn1 UTSW 16 26360919 missense probably benign
R7675:Cldn1 UTSW 16 26371511 missense probably benign 0.00
Z1177:Cldn1 UTSW 16 26360864 missense probably damaging 0.98
Posted On2015-12-18