Incidental Mutation 'IGL01683:Gjb6'
ID 103865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb6
Ensembl Gene ENSMUSG00000040055
Gene Name gap junction protein, beta 6
Synonyms D14Bwg0506e, connexin 30, Cx30
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01683
Quality Score
Status
Chromosome 14
Chromosomal Location 57360760-57371068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57361815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 149 (A149S)
Ref Sequence ENSEMBL: ENSMUSP00000124927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039380] [ENSMUST00000160703]
AlphaFold P70689
Predicted Effect probably benign
Transcript: ENSMUST00000039380
AA Change: A149S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035630
Gene: ENSMUSG00000040055
AA Change: A149S

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Connexin_CCC 146 213 5.95e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160703
AA Change: A149S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124927
Gene: ENSMUSG00000040055
AA Change: A149S

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Blast:Connexin_CCC 146 173 5e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224544
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one targeted mutation are viable and fertile but display progressive hearing loss, with severe degeneration of the auditory hair cells and loss of the endocochlear potential. Mice homozygous for a second allele display normal hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,214,288 (GRCm39) L188Q probably damaging Het
Abcc8 T A 7: 45,801,091 (GRCm39) I446F possibly damaging Het
Ankrd34c T C 9: 89,611,850 (GRCm39) T164A probably benign Het
Bsn C A 9: 107,992,095 (GRCm39) R1219L possibly damaging Het
Cdk2ap1 C T 5: 124,488,242 (GRCm39) probably benign Het
Ces2f T C 8: 105,679,733 (GRCm39) F409L probably benign Het
Clcc1 G A 3: 108,584,112 (GRCm39) A499T probably benign Het
Foxm1 T G 6: 128,350,451 (GRCm39) I584S probably benign Het
Ftcd T C 10: 76,415,963 (GRCm39) I199T probably damaging Het
H2-M2 A T 17: 37,792,406 (GRCm39) H288Q possibly damaging Het
Itprid2 T C 2: 79,501,069 (GRCm39) probably benign Het
Os9 A G 10: 126,935,972 (GRCm39) Y258H probably damaging Het
Phldb3 T C 7: 24,318,862 (GRCm39) F337S possibly damaging Het
Pla2g4a T G 1: 149,733,405 (GRCm39) Y448S probably benign Het
Sgk3 T A 1: 9,952,091 (GRCm39) V239D probably damaging Het
Tek T C 4: 94,747,148 (GRCm39) Y903H probably damaging Het
Tenm4 C A 7: 96,534,611 (GRCm39) H1752Q possibly damaging Het
Tns1 C T 1: 73,992,428 (GRCm39) R750Q probably damaging Het
Tubb2a A T 13: 34,260,530 (GRCm39) probably null Het
Zfp106 T C 2: 120,355,036 (GRCm39) N1245S probably benign Het
Other mutations in Gjb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Gjb6 APN 14 57,361,498 (GRCm39) missense possibly damaging 0.93
IGL01982:Gjb6 APN 14 57,362,030 (GRCm39) missense probably damaging 1.00
IGL02322:Gjb6 APN 14 57,361,732 (GRCm39) missense probably damaging 1.00
IGL02355:Gjb6 APN 14 57,361,752 (GRCm39) missense possibly damaging 0.92
IGL02362:Gjb6 APN 14 57,361,752 (GRCm39) missense possibly damaging 0.92
R2014:Gjb6 UTSW 14 57,362,213 (GRCm39) missense probably damaging 0.98
R4672:Gjb6 UTSW 14 57,362,235 (GRCm39) missense probably benign
R6480:Gjb6 UTSW 14 57,361,899 (GRCm39) missense probably benign 0.25
R7409:Gjb6 UTSW 14 57,361,610 (GRCm39) nonsense probably null
R8228:Gjb6 UTSW 14 57,361,926 (GRCm39) missense probably benign 0.00
R8346:Gjb6 UTSW 14 57,362,259 (GRCm39) start codon destroyed probably null 1.00
R8381:Gjb6 UTSW 14 57,361,919 (GRCm39) missense probably benign 0.00
R9483:Gjb6 UTSW 14 57,361,511 (GRCm39) missense probably benign
R9558:Gjb6 UTSW 14 57,362,261 (GRCm39) start gained probably benign
Posted On 2014-01-21