Incidental Mutation 'IGL02362:Gjb6'
ID 290543
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 # IGL02362
Quality Score
Status
Chromosome 14
Chromosomal Location 57360760-57371068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57361752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 170 (G170C)
Ref Sequence ENSEMBL: ENSMUSP00000124927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039380] [ENSMUST00000160703]
AlphaFold P70689
Predicted Effect possibly damaging
Transcript: ENSMUST00000039380
AA Change: G170C

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035630
Gene: ENSMUSG00000040055
AA Change: G170C

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Connexin_CCC 146 213 5.95e-36 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000160703
AA Change: G170C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124927
Gene: ENSMUSG00000040055
AA Change: G170C

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 C A 8: 25,187,207 (GRCm39) C428F probably damaging Het
Alas1 T C 9: 106,113,838 (GRCm39) Y469C probably damaging Het
Asxl1 C T 2: 153,243,706 (GRCm39) L1419F probably benign Het
Bcan C T 3: 87,901,449 (GRCm39) D418N possibly damaging Het
Cdc42bpg A G 19: 6,360,839 (GRCm39) D199G possibly damaging Het
Chst15 T C 7: 131,868,401 (GRCm39) N340D probably benign Het
Col12a1 T G 9: 79,537,993 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,631,849 (GRCm39) H116L probably benign Het
Cyp2c67 G A 19: 39,605,826 (GRCm39) R357* probably null Het
Ears2 T C 7: 121,643,773 (GRCm39) D395G probably benign Het
Fam227a A T 15: 79,528,139 (GRCm39) probably benign Het
Fap A G 2: 62,403,842 (GRCm39) V11A probably benign Het
Ganc A G 2: 120,264,238 (GRCm39) D397G probably damaging Het
Gria2 A T 3: 80,614,244 (GRCm39) W599R probably damaging Het
Gvin-ps5 T C 7: 105,929,480 (GRCm39) noncoding transcript Het
Ighv1-64 A G 12: 115,471,236 (GRCm39) S94P probably benign Het
Kifc3 C T 8: 95,836,507 (GRCm39) A85T probably damaging Het
Lifr G A 15: 7,194,174 (GRCm39) probably null Het
Lonp2 T G 8: 87,350,874 (GRCm39) S21R probably benign Het
Nxpe3 A G 16: 55,710,949 (GRCm39) V30A probably benign Het
Olfml1 T C 7: 107,167,010 (GRCm39) V13A probably benign Het
Or10w1 T C 19: 13,632,597 (GRCm39) V268A probably benign Het
Or1af1 A G 2: 37,109,681 (GRCm39) Y60C probably damaging Het
Pcnt G A 10: 76,210,996 (GRCm39) Q2376* probably null Het
Pglyrp2 A G 17: 32,635,996 (GRCm39) L380P probably damaging Het
Plin3 A G 17: 56,593,636 (GRCm39) V26A probably benign Het
Potefam1 T C 2: 111,041,996 (GRCm39) probably benign Het
Pramel25 A G 4: 143,519,580 (GRCm39) S114G probably damaging Het
Rims1 A G 1: 22,522,288 (GRCm39) I470T probably damaging Het
Rora T C 9: 69,281,374 (GRCm39) Y329H probably damaging Het
Scnn1b G A 7: 121,516,770 (GRCm39) R503H probably damaging Het
Sec14l1 A G 11: 117,035,675 (GRCm39) D237G possibly damaging Het
Selplg A G 5: 113,957,467 (GRCm39) S280P probably benign Het
Serpina12 A G 12: 104,004,140 (GRCm39) L164P probably benign Het
Sik2 C T 9: 50,828,903 (GRCm39) W176* probably null Het
Slc2a1 T C 4: 118,993,612 (GRCm39) F483S possibly damaging Het
Speg A G 1: 75,400,559 (GRCm39) D2573G possibly damaging Het
Stil C T 4: 114,867,308 (GRCm39) S239L probably damaging Het
Tmem94 C A 11: 115,685,571 (GRCm39) S941R probably damaging Het
Tnfrsf11b T A 15: 54,115,778 (GRCm39) D273V probably damaging Het
Tns2 A G 15: 102,020,725 (GRCm39) T864A probably benign Het
Zfpm2 A G 15: 40,962,890 (GRCm39) H184R probably damaging Het
Other mutations in Gjb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Gjb6 APN 14 57,361,498 (GRCm39) missense possibly damaging 0.93
IGL01683:Gjb6 APN 14 57,361,815 (GRCm39) missense probably benign
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
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 2015-04-16