Incidental Mutation 'IGL02411:Gjb1'
ID 292315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb1
Ensembl Gene ENSMUSG00000047797
Gene Name gap junction protein, beta 1
Synonyms Gjb-1, connexin 32, Cx32, connexin-32
Accession Numbers
Essential gene? Not available question?
Stock # IGL02411
Quality Score
Status
Chromosome X
Chromosomal Location 100419984-100429235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100428611 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P28230
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: 64,055,459 (GRCm39) E65G probably benign Het
Abcc8 G A 7: 45,756,431 (GRCm39) R1425C probably damaging Het
Adcy3 A T 12: 4,259,407 (GRCm39) probably null Het
AI661453 T G 17: 47,778,263 (GRCm39) probably benign Het
Arhgef10 A T 8: 15,004,819 (GRCm39) Y445F probably benign Het
Atrx G T X: 104,874,587 (GRCm39) S1924R possibly damaging Het
Clca3a1 T C 3: 144,733,763 (GRCm39) T58A possibly damaging Het
Clec1b A G 6: 129,378,804 (GRCm39) Y97C probably damaging Het
Cobll1 A G 2: 64,928,084 (GRCm39) S1080P probably damaging Het
Crb1 C A 1: 139,176,213 (GRCm39) C529F probably damaging Het
Crim1 C T 17: 78,642,763 (GRCm39) R494* probably null Het
Cyp3a25 A T 5: 145,938,257 (GRCm39) probably benign Het
Dntt T A 19: 41,041,424 (GRCm39) probably null Het
Glp1r T A 17: 31,143,485 (GRCm39) C174S probably damaging Het
Gm5414 A T 15: 101,536,269 (GRCm39) Y119N probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gm9796 G T 11: 95,588,756 (GRCm39) noncoding transcript Het
Gm9956 T C 10: 56,621,388 (GRCm39) F17L unknown Het
Il1rap A T 16: 26,529,366 (GRCm39) D396V probably damaging Het
Impa1 T C 3: 10,388,018 (GRCm39) K135E possibly damaging Het
Iqub G A 6: 24,449,810 (GRCm39) A685V probably damaging Het
Jade3 T C X: 20,379,063 (GRCm39) V512A probably benign Het
Kif3a C A 11: 53,461,525 (GRCm39) P57T probably damaging Het
Kndc1 G T 7: 139,501,829 (GRCm39) probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Maged2 G T X: 149,592,755 (GRCm39) D343E probably benign Het
Magi2 T C 5: 19,883,707 (GRCm39) S120P probably damaging Het
Nxph3 A T 11: 95,401,656 (GRCm39) *253R probably null Het
Oog2 A T 4: 143,921,618 (GRCm39) H194L probably damaging Het
Pcbd2 T G 13: 55,880,764 (GRCm39) W7G probably benign Het
Pcdhb14 T G 18: 37,582,823 (GRCm39) L643R possibly damaging Het
Plch1 G T 3: 63,605,177 (GRCm39) probably null Het
Poln G T 5: 34,270,666 (GRCm39) S455* probably null Het
Ppp2r1a T C 17: 21,171,596 (GRCm39) probably benign Het
Rsu1 T G 2: 13,082,308 (GRCm39) probably benign Het
Serpina10 A T 12: 103,583,202 (GRCm39) M360K possibly damaging Het
Sox30 A T 11: 45,871,951 (GRCm39) K269* probably null Het
Thbs1 T C 2: 117,945,451 (GRCm39) V310A probably benign Het
Tie1 C A 4: 118,343,760 (GRCm39) E61* probably null Het
Tm2d1 G T 4: 98,268,911 (GRCm39) P62Q probably damaging Het
Tpp1 G T 7: 105,398,826 (GRCm39) P201Q probably damaging Het
Trim13 A G 14: 61,842,598 (GRCm39) E205G probably damaging Het
Posted On 2015-04-16