Incidental Mutation 'R8346:Gjb6'
ID 645255
Institutional Source Beutler Lab
Gene Symbol Gjb6
Ensembl Gene ENSMUSG00000040055
Gene Name gap junction protein, beta 6
Synonyms D14Bwg0506e, connexin 30, Cx30
MMRRC Submission 067802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8346 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 57360760-57371068 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 57362259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000035630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039380] [ENSMUST00000160703]
AlphaFold P70689
Predicted Effect probably null
Transcript: ENSMUST00000039380
AA Change: M1V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035630
Gene: ENSMUSG00000040055
AA Change: M1V

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Connexin_CCC 146 213 5.95e-36 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160703
AA Change: M1V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124927
Gene: ENSMUSG00000040055
AA Change: M1V

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: 99.6%
  • 20x: 98.7%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A G 14: 59,380,221 (GRCm39) S26P probably damaging Het
Aco1 T A 4: 40,177,876 (GRCm39) M299K probably damaging Het
Acox1 G T 11: 116,069,099 (GRCm39) T382N possibly damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
App G T 16: 84,900,145 (GRCm39) R102S unknown Het
Chd1l T C 3: 97,469,959 (GRCm39) N856D probably benign Het
Col11a1 A G 3: 114,005,818 (GRCm39) D1650G unknown Het
Cx3cl1 T C 8: 95,507,168 (GRCm39) V391A probably damaging Het
Cyp11b2 T C 15: 74,723,617 (GRCm39) Y378C probably damaging Het
Cyp26b1 T C 6: 84,554,150 (GRCm39) S156G probably benign Het
Cyp3a11 C T 5: 145,795,612 (GRCm39) M446I probably damaging Het
D7Ertd443e G A 7: 133,950,485 (GRCm39) T396I possibly damaging Het
Dusp4 C A 8: 35,275,092 (GRCm39) N70K possibly damaging Het
Dync1h1 G A 12: 110,632,226 (GRCm39) A4499T probably benign Het
Eno2 T C 6: 124,740,758 (GRCm39) D266G possibly damaging Het
Eomes T C 9: 118,314,036 (GRCm39) S694P probably benign Het
Fmo4 A G 1: 162,621,792 (GRCm39) V473A probably benign Het
Fmo5 T A 3: 97,552,962 (GRCm39) N303K probably damaging Het
Garin1b G A 6: 29,334,030 (GRCm39) C296Y probably damaging Het
Gdf10 A G 14: 33,653,802 (GRCm39) E103G probably benign Het
Gm17067 A G 7: 42,358,073 (GRCm39) L143P probably damaging Het
Helz A G 11: 107,563,399 (GRCm39) D1613G unknown Het
Hmgn3 T C 9: 82,993,159 (GRCm39) K50E probably damaging Het
Hoxc11 G A 15: 102,863,186 (GRCm39) G76S possibly damaging Het
Ighv1-9 A T 12: 114,547,448 (GRCm39) M31K probably benign Het
Ighv2-2 A T 12: 113,552,189 (GRCm39) C16* probably null Het
Kidins220 T G 12: 25,086,533 (GRCm39) F989C probably damaging Het
Krtap28-13 A G 1: 83,039,086 (GRCm39) K124E unknown Het
Mast4 A G 13: 102,887,986 (GRCm39) V1141A probably damaging Het
Myb A T 10: 21,002,136 (GRCm39) M735K probably benign Het
Myo3a T A 2: 22,448,434 (GRCm39) probably null Het
Naa60 G A 16: 3,718,507 (GRCm39) G113D probably damaging Het
Nfatc1 T C 18: 80,725,382 (GRCm39) I461V probably benign Het
Nphp4 C A 4: 152,645,778 (GRCm39) A1262D probably damaging Het
Obscn A T 11: 58,976,007 (GRCm39) V2040E possibly damaging Het
Or1j4 A G 2: 36,740,351 (GRCm39) I98V probably benign Het
Or9a2 A G 6: 41,749,057 (GRCm39) Y59H probably damaging Het
Ormdl1 T A 1: 53,344,626 (GRCm39) F63I possibly damaging Het
Otulinl A G 15: 27,664,644 (GRCm39) Y76H probably damaging Het
Phc1 C T 6: 122,302,774 (GRCm39) V250M probably damaging Het
Pik3c2b G A 1: 133,017,984 (GRCm39) V949M probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Prmt8 T A 6: 127,688,810 (GRCm39) M187L probably damaging Het
Ptpn3 T C 4: 57,225,547 (GRCm39) I513V probably damaging Het
Rad17 A C 13: 100,781,681 (GRCm39) S39A possibly damaging Het
Rbck1 T C 2: 152,160,700 (GRCm39) Y412C probably damaging Het
Rfc3 C A 5: 151,569,100 (GRCm39) M152I probably damaging Het
Scn11a C A 9: 119,608,047 (GRCm39) C1028F probably damaging Het
Sfmbt2 C A 2: 10,466,236 (GRCm39) P357Q probably damaging Het
Slc22a6 C G 19: 8,599,169 (GRCm39) R267G probably damaging Het
St3gal1 G A 15: 66,985,511 (GRCm39) R48C probably damaging Het
Stmnd1 A G 13: 46,452,936 (GRCm39) N204S probably benign Het
Tdrd1 T C 19: 56,830,699 (GRCm39) V244A probably benign Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Vmn2r25 T C 6: 123,802,350 (GRCm39) T518A probably benign Het
Xdh T C 17: 74,220,938 (GRCm39) D597G probably damaging Het
Zfp457 G A 13: 67,441,862 (GRCm39) Q238* probably null Het
Zfp647 T C 15: 76,795,928 (GRCm39) D244G probably damaging Het
Zfp870 T A 17: 33,102,843 (GRCm39) E162V 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
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
Predicted Primers PCR Primer
(F):5'- ACACAAAGATCAGCTGCAGG -3'
(R):5'- ACACCTTTATCATGGGCATTCC -3'

Sequencing Primer
(F):5'- GGTCATAGCAGACGTTCTTGCAC -3'
(R):5'- GGGCATTCCTTCTCAGAAACTCAG -3'
Posted On 2020-09-02