Incidental Mutation 'IGL00839:Cldn34b4'
ID 8461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn34b4
Ensembl Gene ENSMUSG00000073085
Gene Name claudin 34B4
Synonyms 4930428D18Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00839
Quality Score
Status
Chromosome X
Chromosomal Location 75428942-75441586 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75440955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 71 (C71S)
Ref Sequence ENSEMBL: ENSMUSP00000137037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101419] [ENSMUST00000178974]
AlphaFold Q3V0X2
Predicted Effect probably damaging
Transcript: ENSMUST00000101419
AA Change: C71S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098964
Gene: ENSMUSG00000073085
AA Change: C71S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 1.2e-6 PFAM
Pfam:Claudin_2 18 198 4.7e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178974
AA Change: C71S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137037
Gene: ENSMUSG00000073085
AA Change: C71S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 1.1e-6 PFAM
Pfam:Claudin_2 18 198 2.1e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,873 (GRCm39) S1031T probably benign Het
a T A 2: 154,887,593 (GRCm39) F18I probably benign Het
Acsl4 A T X: 141,122,948 (GRCm39) N421K possibly damaging Het
Ampd1 A G 3: 103,007,010 (GRCm39) E745G possibly damaging Het
Ankrd44 T C 1: 54,706,594 (GRCm39) N436D probably benign Het
Ap1s2 A G X: 162,709,951 (GRCm39) Y160C probably damaging Het
Bms1 C T 6: 118,382,252 (GRCm39) V429M probably benign Het
Cep57l1 T C 10: 41,607,089 (GRCm39) E158G probably damaging Het
Col1a2 C T 6: 4,531,095 (GRCm39) probably benign Het
Crisp3 T G 17: 40,550,147 (GRCm39) probably null Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Defa24 T A 8: 22,224,713 (GRCm39) L54H probably damaging Het
Dennd1a A G 2: 37,706,994 (GRCm39) V504A probably benign Het
Eloa G A 4: 135,738,670 (GRCm39) R97C probably damaging Het
Espl1 T C 15: 102,228,982 (GRCm39) probably benign Het
Fgb T A 3: 82,950,598 (GRCm39) R385S possibly damaging Het
Glod4 T A 11: 76,124,104 (GRCm39) H223L probably benign Het
Hrh1 C T 6: 114,457,283 (GRCm39) T188I probably damaging Het
Hsph1 G T 5: 149,541,919 (GRCm39) A769D possibly damaging Het
Jak2 C T 19: 29,279,047 (GRCm39) P933S probably damaging Het
Lrrd1 T A 5: 3,900,017 (GRCm39) D107E probably benign Het
Osbpl8 T A 10: 111,127,371 (GRCm39) S776R probably benign Het
Pcna C T 2: 132,093,340 (GRCm39) V136I probably benign Het
Pde11a A G 2: 76,045,729 (GRCm39) F365S probably damaging Het
Pi15 A G 1: 17,691,747 (GRCm39) H183R probably damaging Het
Plce1 A G 19: 38,687,006 (GRCm39) Y638C probably damaging Het
Pnpla6 A G 8: 3,592,299 (GRCm39) D1196G probably benign Het
Pramel26 T C 4: 143,539,293 (GRCm39) T67A probably benign Het
Psg22 A G 7: 18,456,893 (GRCm39) I220V probably benign Het
Rap1gap2 A T 11: 74,328,274 (GRCm39) Y97N probably damaging Het
Taf2 A T 15: 54,909,174 (GRCm39) C690* probably null Het
Taf3 A T 2: 9,957,728 (GRCm39) D146E probably damaging Het
Tnrc6c A G 11: 117,605,011 (GRCm39) T49A possibly damaging Het
Trdn T C 10: 33,347,602 (GRCm39) probably null Het
Ttc29 C T 8: 79,060,385 (GRCm39) T435I probably benign Het
Vps37b T C 5: 124,148,814 (GRCm39) T74A possibly damaging Het
Zbtb11 T A 16: 55,820,965 (GRCm39) Y687* probably null Het
Other mutations in Cldn34b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Cldn34b4 APN X 75,441,195 (GRCm39) missense probably damaging 0.97
Posted On 2012-12-06