Incidental Mutation 'IGL02510:Cldn14'
ID296517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn14
Ensembl Gene ENSMUSG00000047109
Gene Nameclaudin 14
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL02510
Quality Score
Status
Chromosome16
Chromosomal Location93919031-94008837 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 93919956 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000136156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050962] [ENSMUST00000137163] [ENSMUST00000142083] [ENSMUST00000169391] [ENSMUST00000177648]
Predicted Effect probably damaging
Transcript: ENSMUST00000050962
AA Change: M1L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062045
Gene: ENSMUSG00000047109
AA Change: M1L

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 3.3e-31 PFAM
low complexity region 199 217 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137163
AA Change: M1L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000142083
AA Change: M1L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000169391
AA Change: M1L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126455
Gene: ENSMUSG00000047109
AA Change: M1L

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 3.3e-31 PFAM
Pfam:Claudin_2 15 183 1.1e-12 PFAM
low complexity region 199 217 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177648
AA Change: M1L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136156
Gene: ENSMUSG00000047109
AA Change: M1L

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 3.3e-31 PFAM
Pfam:Claudin_2 15 183 1.1e-12 PFAM
low complexity region 199 217 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the claudin family of tight junction proteins. The encoded protein is an integral membrane protein that may function in maintaining apical membrane polarization in tight junctions located between outer hair cells and supporting cells. Loss of function of this gene is associated with hearing problems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice have a normal endocochlear potential but are deaf due to cochlear hair cell degeneration within the first 3 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,251,390 S193N probably benign Het
Arrdc1 C A 2: 24,935,100 V16F probably damaging Het
Bsx A T 9: 40,874,221 Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 T253A probably benign Het
Cdkl3 T C 11: 52,011,270 L102P probably damaging Het
Cgnl1 G T 9: 71,725,357 N237K probably benign Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Col7a1 C A 9: 108,973,231 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhrs2 G A 14: 55,236,075 V64M probably damaging Het
Disp3 G A 4: 148,252,701 H886Y probably benign Het
Dst G A 1: 34,229,251 probably null Het
Fnbp4 T C 2: 90,751,475 V215A probably benign Het
Fzd9 A G 5: 135,249,615 L472P probably damaging Het
Gm5096 A G 18: 87,757,529 Q392R probably benign Het
Hpd C T 5: 123,181,910 R15Q possibly damaging Het
Htra2 A G 6: 83,051,611 V412A probably damaging Het
Ift80 A G 3: 68,898,543 F722S probably benign Het
Kcnq2 T C 2: 181,081,361 T741A probably benign Het
Kl A C 5: 150,989,001 E738D probably damaging Het
Klra4 T A 6: 130,059,543 I178L probably damaging Het
Klra9 T C 6: 130,191,222 E27G probably benign Het
Kntc1 T C 5: 123,819,062 Y2145H probably benign Het
Mbd5 T A 2: 49,257,029 M417K probably benign Het
Med31 C T 11: 72,212,056 M75I probably benign Het
Mpeg1 A T 19: 12,461,424 D82V probably damaging Het
Msto1 A G 3: 88,910,345 Y439H probably damaging Het
Olfr23 G A 11: 73,941,005 G253E probably damaging Het
Olfr332 T C 11: 58,490,539 Y72C probably damaging Het
Olfr344 T C 2: 36,568,681 S28P possibly damaging Het
Olfr488 T A 7: 108,256,141 probably benign Het
Prtg G A 9: 72,890,869 V706M probably damaging Het
Sfxn2 G T 19: 46,588,272 A186S probably benign Het
Slc12a5 A T 2: 164,982,808 probably benign Het
Slc7a3 T C X: 101,082,833 E222G probably benign Het
Stox1 A T 10: 62,664,047 H911Q probably benign Het
Sult3a2 A T 10: 33,766,439 N289K probably benign Het
Supt20 A G 3: 54,715,524 probably benign Het
Tchh A G 3: 93,444,078 E275G unknown Het
Tectb A T 19: 55,191,511 N263I probably damaging Het
Tsga10 C T 1: 37,760,985 R608Q possibly damaging Het
Ttyh3 A G 5: 140,629,464 Y390H probably damaging Het
Utf1 C A 7: 139,944,016 S48* probably null Het
Zfp358 G A 8: 3,496,786 G456D probably benign Het
Zufsp A G 10: 33,930,154 probably null Het
Other mutations in Cldn14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Cldn14 APN 16 93919301 missense probably benign 0.32
R1663:Cldn14 UTSW 16 93919278 missense probably damaging 1.00
R2939:Cldn14 UTSW 16 93919304 missense probably damaging 1.00
R3081:Cldn14 UTSW 16 93919304 missense probably damaging 1.00
R4887:Cldn14 UTSW 16 93919859 missense possibly damaging 0.93
R6278:Cldn14 UTSW 16 93919598 missense possibly damaging 0.68
R7743:Cldn14 UTSW 16 93919727 missense probably damaging 1.00
Posted On2015-04-16