Incidental Mutation 'IGL02411:Gjb1'
ID292315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb1
Ensembl Gene ENSMUSG00000047797
Gene Namegap junction protein, beta 1
SynonymsCx32, connexin-32, connexin 32, Gjb-1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02411
Quality Score
Status
ChromosomeX
Chromosomal Location101376378-101385629 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 101385005 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 280 (C280R)
Ref Sequence ENSEMBL: ENSMUSP00000113516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052130] [ENSMUST00000119080] [ENSMUST00000119190]
Predicted Effect probably damaging
Transcript: ENSMUST00000052130
AA Change: C280R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062723
Gene: ENSMUSG00000047797
AA Change: C280R

DomainStartEndE-ValueType
CNX 42 75 6.94e-19 SMART
Connexin_CCC 145 212 3.12e-39 SMART
low complexity region 215 224 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119080
AA Change: C280R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113904
Gene: ENSMUSG00000047797
AA Change: C280R

DomainStartEndE-ValueType
CNX 42 75 6.94e-19 SMART
Connexin_CCC 145 212 3.12e-39 SMART
low complexity region 215 224 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119190
AA Change: C280R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113516
Gene: ENSMUSG00000047797
AA Change: C280R

DomainStartEndE-ValueType
CNX 42 75 6.94e-19 SMART
Connexin_CCC 145 212 3.12e-39 SMART
low complexity region 215 224 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the gap junction protein (connexin) family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of ions and small molecules between cells. Mutations in a similar gene in human cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a modest decrease in body weight, enhanced neuronal sensitivity to ischemic insults, and increased susceptibility to both spontaneous and chemically-induced liver tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,116 E65G probably benign Het
Abcc8 G A 7: 46,107,007 R1425C probably damaging Het
Adcy3 A T 12: 4,209,407 N895Y probably null Het
AI661453 T G 17: 47,467,338 L663R probably benign Het
Arhgef10 A T 8: 14,954,819 Y445F probably benign Het
Atrx G T X: 105,830,981 S1924R possibly damaging Het
Clca1 T C 3: 145,028,002 T58A possibly damaging Het
Clec1b A G 6: 129,401,841 Y129C probably damaging Het
Cobll1 A G 2: 65,097,740 S1080P probably damaging Het
Crb1 C A 1: 139,248,475 C590F probably damaging Het
Crim1 C T 17: 78,335,334 R494* probably null Het
Cyp3a25 A T 5: 146,001,447 probably benign Het
Dntt T A 19: 41,052,985 probably null Het
Glp1r T A 17: 30,924,511 C174S probably damaging Het
Gm5414 A T 15: 101,627,834 Y119N probably benign Het
Gm9631 G A 11: 121,943,652 probably null Het
Gm9796 G T 11: 95,697,930 noncoding transcript Het
Gm9956 T C 10: 56,745,292 F17L unknown Het
Il1rap A T 16: 26,710,616 D396V probably damaging Het
Impa1 T C 3: 10,322,958 K135E possibly damaging Het
Iqub G A 6: 24,449,811 A685V probably damaging Het
Jade3 T C X: 20,512,824 V512A probably benign Het
Kif3a C A 11: 53,570,698 P57T probably damaging Het
Kndc1 G T 7: 139,921,913 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Maged2 G T X: 150,809,759 D343E probably benign Het
Magi2 T C 5: 19,678,709 S120P probably damaging Het
Nxph3 A T 11: 95,510,830 *253R probably null Het
Oog2 A T 4: 144,195,048 H194L probably damaging Het
Pcbd2 T G 13: 55,732,951 W40G probably benign Het
Pcdhb14 T G 18: 37,449,770 L643R possibly damaging Het
Plch1 G T 3: 63,697,756 R1567S probably null Het
Poln G T 5: 34,113,322 S455* probably null Het
Ppp2r1a T C 17: 20,951,334 probably benign Het
Rsu1 T G 2: 13,077,497 probably benign Het
Serpina10 A T 12: 103,616,943 M360K possibly damaging Het
Sox30 A T 11: 45,981,124 K269* probably null Het
Thbs1 T C 2: 118,114,970 V310A probably benign Het
Tie1 C A 4: 118,486,563 E61* probably null Het
Tm2d1 G T 4: 98,380,674 P62Q probably damaging Het
Tpp1 G T 7: 105,749,619 P201Q probably damaging Het
Trim13 A G 14: 61,605,149 E205G probably damaging Het
Posted On2015-04-16