Incidental Mutation 'IGL00777:Cldn34c1'
ID 8446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn34c1
Ensembl Gene ENSMUSG00000079450
Gene Name claudin 34C1
Synonyms 3110007F17Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00777
Quality Score
Status
Chromosome X
Chromosomal Location 122013220-122055351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122052570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 103 (L103P)
Ref Sequence ENSEMBL: ENSMUSP00000137081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113343] [ENSMUST00000113348] [ENSMUST00000169445]
AlphaFold Q8K193
Predicted Effect probably damaging
Transcript: ENSMUST00000113343
AA Change: L81P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108970
Gene: ENSMUSG00000079450
AA Change: L81P

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 90 112 N/A INTRINSIC
transmembrane domain 125 147 N/A INTRINSIC
transmembrane domain 179 201 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113348
AA Change: L103P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108975
Gene: ENSMUSG00000079450
AA Change: L103P

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
transmembrane domain 112 134 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 201 223 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153946
Predicted Effect probably damaging
Transcript: ENSMUST00000169445
AA Change: L103P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137081
Gene: ENSMUSG00000079450
AA Change: L103P

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
transmembrane domain 112 134 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 201 223 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A G 5: 50,183,100 (GRCm39) I82T probably damaging Het
Cd72 T C 4: 43,448,365 (GRCm39) Y305C possibly damaging Het
Dhtkd1 A T 2: 5,934,468 (GRCm39) L234H probably damaging Het
H1f4 T A 13: 23,806,005 (GRCm39) probably benign Het
Hgd A G 16: 37,433,611 (GRCm39) T77A probably damaging Het
Itgad A T 7: 127,803,022 (GRCm39) T1059S probably damaging Het
Klhl20 T C 1: 160,937,325 (GRCm39) T17A probably benign Het
Lct T C 1: 128,215,293 (GRCm39) D1761G probably benign Het
Mmp23 T G 4: 155,735,464 (GRCm39) Y334S possibly damaging Het
Ncapg A G 5: 45,853,107 (GRCm39) S858G possibly damaging Het
Nsd1 G A 13: 55,386,548 (GRCm39) G101E probably damaging Het
Pdia3 T A 2: 121,260,037 (GRCm39) L192Q probably damaging Het
Phex A G X: 155,960,528 (GRCm39) L672P probably damaging Het
Reln A G 5: 22,223,848 (GRCm39) probably null Het
Rfk T A 19: 17,372,700 (GRCm39) V74E probably benign Het
Rubcn A G 16: 32,656,933 (GRCm39) C467R probably damaging Het
Rufy2 G A 10: 62,826,833 (GRCm39) C124Y probably damaging Het
Slc8a1 A G 17: 81,956,009 (GRCm39) I343T probably damaging Het
Smyd4 T A 11: 75,281,634 (GRCm39) M369K probably benign Het
Spata31e2 C A 1: 26,721,173 (GRCm39) D1336Y probably damaging Het
Tmem131l G T 3: 83,806,597 (GRCm39) P1408T probably damaging Het
Tmprss11f A G 5: 86,671,924 (GRCm39) Y423H probably damaging Het
Wdr70 A T 15: 8,049,088 (GRCm39) M303K probably benign Het
Posted On 2012-12-06