Incidental Mutation 'R9558:Gjb6'
ID 720876
Institutional Source Beutler Lab
Gene Symbol Gjb6
Ensembl Gene ENSMUSG00000040055
Gene Name gap junction protein, beta 6
Synonyms D14Bwg0506e, connexin 30, Cx30
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9558 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 57360760-57371068 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 57362261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039380] [ENSMUST00000160703]
AlphaFold P70689
Predicted Effect probably benign
Transcript: ENSMUST00000039380
SMART Domains Protein: ENSMUSP00000035630
Gene: ENSMUSG00000040055

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Connexin_CCC 146 213 5.95e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160703
SMART Domains Protein: ENSMUSP00000124927
Gene: ENSMUSG00000040055

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Blast:Connexin_CCC 146 173 5e-13 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C T 10: 76,290,576 (GRCm39) P126L probably damaging Het
Adh7 T A 3: 137,932,043 (GRCm39) I219N probably damaging Het
Ash1l A G 3: 88,889,521 (GRCm39) S467G probably benign Het
Atm T C 9: 53,412,081 (GRCm39) I992V probably benign Het
Bdnf T C 2: 109,539,999 (GRCm39) V31A Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Ccnk A T 12: 108,155,397 (GRCm39) K118I possibly damaging Het
Ccr2 T A 9: 123,906,104 (GRCm39) V128E possibly damaging Het
Cd163 C A 6: 124,297,471 (GRCm39) N872K probably benign Het
Cd38 A G 5: 44,057,792 (GRCm39) I121M probably damaging Het
Cntnap5c A T 17: 58,671,157 (GRCm39) probably null Het
Cyp11b1 T C 15: 74,710,789 (GRCm39) E257G probably benign Het
Cyp2d40 T C 15: 82,645,667 (GRCm39) T113A unknown Het
Ddx23 A G 15: 98,545,433 (GRCm39) V625A possibly damaging Het
Dnaaf9 T C 2: 130,617,660 (GRCm39) N433D probably damaging Het
Fbxw17 T C 13: 50,577,311 (GRCm39) Y68H probably damaging Het
Fignl1 C T 11: 11,751,778 (GRCm39) V426I possibly damaging Het
Ggn C G 7: 28,871,973 (GRCm39) P487R probably damaging Het
Gm5930 A G 14: 44,576,014 (GRCm39) F2L possibly damaging Het
Il1r2 A G 1: 40,162,422 (GRCm39) E355G probably damaging Het
Itprid1 T A 6: 55,944,969 (GRCm39) H563Q possibly damaging Het
Jarid2 C T 13: 45,068,253 (GRCm39) R1092W possibly damaging Het
Lama1 A G 17: 68,124,004 (GRCm39) T2810A Het
Ltn1 A T 16: 87,220,295 (GRCm39) S267R probably benign Het
Mapre2 T A 18: 23,991,195 (GRCm39) H196Q possibly damaging Het
Mfap4 A C 11: 61,376,965 (GRCm39) S65R probably benign Het
Mterf1a C T 5: 3,941,807 (GRCm39) W20* probably null Het
Myh1 C G 11: 67,108,618 (GRCm39) H1345D possibly damaging Het
Myh3 T A 11: 66,983,316 (GRCm39) C948S possibly damaging Het
Ndufa8 A G 2: 35,926,605 (GRCm39) S144P probably benign Het
Nudc G A 4: 133,260,776 (GRCm39) R257C probably benign Het
Nufip1 A G 14: 76,348,481 (GRCm39) M37V probably benign Het
Ogn A G 13: 49,764,783 (GRCm39) E61G probably benign Het
Or52n5 T C 7: 104,588,615 (GRCm39) V294A possibly damaging Het
Pcdh8 A G 14: 80,006,380 (GRCm39) S728P probably damaging Het
Pdzrn4 A G 15: 92,299,877 (GRCm39) D249G possibly damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Setd2 C T 9: 110,376,628 (GRCm39) H148Y probably damaging Het
Smok2b G A 17: 13,453,884 (GRCm39) G15R probably damaging Het
Sun1 A G 5: 139,211,019 (GRCm39) T91A probably benign Het
Tbc1d31 G A 15: 57,795,988 (GRCm39) A194T probably damaging Het
Tiparp C T 3: 65,438,852 (GRCm39) S56F possibly damaging Het
Tmf1 C T 6: 97,147,293 (GRCm39) E558K possibly damaging Het
Trip6 A G 5: 137,309,075 (GRCm39) S344P probably benign Het
Ube2q1 A G 3: 89,686,766 (GRCm39) K207E probably benign Het
Ubr2 A G 17: 47,262,843 (GRCm39) V1256A probably benign Het
Vmn1r69 T A 7: 10,314,185 (GRCm39) Y182F probably benign Het
Wipf1 C A 2: 73,268,020 (GRCm39) R126L probably damaging Het
Zc3hav1 T C 6: 38,331,042 (GRCm39) E39G possibly 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
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
Predicted Primers PCR Primer
(F):5'- ACAAAGATCAGCTGCAGGGC -3'
(R):5'- AGACACCTTTATCATGGGCATTC -3'

Sequencing Primer
(F):5'- GGTCATAGCAGACGTTCTTGCAC -3'
(R):5'- GGGCATTCCTTCTCAGAAACTCAG -3'
Posted On 2022-08-09