Incidental Mutation 'R6480:Gjb6'
ID 517057
Institutional Source Beutler Lab
Gene Symbol Gjb6
Ensembl Gene ENSMUSG00000040055
Gene Name gap junction protein, beta 6
Synonyms D14Bwg0506e, connexin 30, Cx30
MMRRC Submission 044612-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6480 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 57360760-57371068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57361899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 121 (I121V)
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: I121V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000035630
Gene: ENSMUSG00000040055
AA Change: I121V

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: I121V

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124927
Gene: ENSMUSG00000040055
AA Change: I121V

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Blast:Connexin_CCC 146 173 5e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224544
Meta Mutation Damage Score 0.0905 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (57/58)
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
Arl8b T A 6: 108,792,010 (GRCm39) N90K possibly damaging Het
Art3 T C 5: 92,540,676 (GRCm39) F140L probably damaging Het
Ascc3 T A 10: 50,587,049 (GRCm39) M967K probably damaging Het
Ccne1 G A 7: 37,806,279 (GRCm39) probably benign Het
Cdc14b T C 13: 64,373,464 (GRCm39) probably null Het
Ceacam2 T A 7: 25,219,414 (GRCm39) E282V probably damaging Het
Clk4 T A 11: 51,161,373 (GRCm39) C86* probably null Het
Cul2 A C 18: 3,417,561 (GRCm39) K115T possibly damaging Het
Dhx29 A T 13: 113,090,322 (GRCm39) K800* probably null Het
Dlec1 T C 9: 118,976,758 (GRCm39) F1741S probably benign Het
Dnah12 A G 14: 26,594,412 (GRCm39) T3455A probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Drd4 A T 7: 140,874,706 (GRCm39) I366F possibly damaging Het
Fam169b T A 7: 68,003,466 (GRCm39) Y273* probably null Het
Fbn1 T A 2: 125,177,338 (GRCm39) Y1833F probably benign Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Glg1 T C 8: 111,924,338 (GRCm39) T217A possibly damaging Het
Igkv5-48 A G 6: 69,703,810 (GRCm39) S32P probably benign Het
Itgax C A 7: 127,747,771 (GRCm39) F1062L probably benign Het
Lct G A 1: 128,222,057 (GRCm39) T1494I probably damaging Het
Lilra6 G A 7: 3,915,932 (GRCm39) T309I probably damaging Het
Mical3 T C 6: 121,011,236 (GRCm39) T321A possibly damaging Het
Mmp23 T A 4: 155,736,798 (GRCm39) N104I probably damaging Het
Muc17 T C 5: 137,171,238 (GRCm39) Y131C Het
Naip2 A C 13: 100,298,549 (GRCm39) S496A probably benign Het
Ndufs2 A G 1: 171,064,267 (GRCm39) S348P probably damaging Het
Nepro T C 16: 44,547,438 (GRCm39) S52P probably damaging Het
Nlrp6 A G 7: 140,507,356 (GRCm39) E874G possibly damaging Het
Nsmce1 A G 7: 125,090,590 (GRCm39) V9A probably benign Het
Or1q1 T C 2: 36,887,007 (GRCm39) F62L probably benign Het
Or2a7 T C 6: 43,151,000 (GRCm39) F27L probably benign Het
Or5b105 T A 19: 13,079,838 (GRCm39) T277S probably benign Het
Or6c3 A T 10: 129,308,590 (GRCm39) I10F possibly damaging Het
Per2 A T 1: 91,357,104 (GRCm39) probably null Het
Pgbd1 T C 13: 21,607,646 (GRCm39) I183V probably benign Het
Pik3c2g T C 6: 139,676,195 (GRCm39) V113A probably benign Het
Pipox A G 11: 77,773,474 (GRCm39) L259P probably damaging Het
Pkd1l3 C T 8: 110,365,019 (GRCm39) Q1124* probably null Het
Plcd3 A G 11: 102,965,757 (GRCm39) S492P possibly damaging Het
Rcor2 T G 19: 7,248,411 (GRCm39) M142R probably benign Het
Rwdd3 T C 3: 120,950,101 (GRCm39) E115G probably damaging Het
Slc13a3 T C 2: 165,250,818 (GRCm39) Y475C probably damaging Het
Slc14a2 A T 18: 78,202,297 (GRCm39) I611N possibly damaging Het
Slc25a24 G T 3: 109,043,617 (GRCm39) M91I probably damaging Het
Spg11 T C 2: 121,922,786 (GRCm39) S888G probably benign Het
Spta1 A T 1: 174,014,714 (GRCm39) probably null Het
Stk35 C A 2: 129,652,607 (GRCm39) D369E possibly damaging Het
Tanc1 T C 2: 59,637,986 (GRCm39) S889P probably damaging Het
Tbc1d10b T C 7: 126,798,050 (GRCm39) N697S probably damaging Het
Tcof1 A T 18: 60,947,852 (GRCm39) probably null Het
Tg T A 15: 66,543,160 (GRCm39) Y25N probably damaging Het
Thbs1 T C 2: 117,949,598 (GRCm39) C563R probably damaging Het
Tlr11 A G 14: 50,600,512 (GRCm39) S833G possibly damaging Het
Uggt2 T A 14: 119,294,976 (GRCm39) H550L probably benign Het
Utp20 A G 10: 88,591,048 (GRCm39) probably null Het
Wbp1l T A 19: 46,642,758 (GRCm39) L253Q probably damaging Het
Zfp433 T A 10: 81,556,078 (GRCm39) S161R possibly damaging Het
Zfp865 A G 7: 5,032,782 (GRCm39) T256A probably damaging Het
Zpr1 A G 9: 46,186,009 (GRCm39) D160G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GAAGCAGTCCACGAGATTGG -3'
(R):5'- AGGAGGACTTTGTCTGCAACAC -3'

Sequencing Primer
(F):5'- TCCACGAGATTGGGGCAG -3'
(R):5'- GTGCAAGAACGTCTGCTATGACC -3'
Posted On 2018-05-21