Incidental Mutation 'IGL02362:Gjb6'
ID290543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb6
Ensembl Gene ENSMUSG00000040055
Gene Namegap junction protein, beta 6
SynonymsD14Bwg0506e, Cx30, connexin 30
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02362
Quality Score
Status
Chromosome14
Chromosomal Location57123303-57133611 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 57124295 bp
ZygosityHeterozygous
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]
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
4930430A15Rik T C 2: 111,211,651 probably benign Het
Adam3 C A 8: 24,697,191 C428F probably damaging Het
Alas1 T C 9: 106,236,639 Y469C probably damaging Het
Asxl1 C T 2: 153,401,786 L1419F probably benign Het
Bcan C T 3: 87,994,142 D418N possibly damaging Het
Cdc42bpg A G 19: 6,310,809 D199G possibly damaging Het
Chst15 T C 7: 132,266,672 N340D probably benign Het
Col12a1 T G 9: 79,630,711 probably benign Het
Cyp2c67 T A 19: 39,643,405 H116L probably benign Het
Cyp2c67 G A 19: 39,617,382 R357* probably null Het
Ears2 T C 7: 122,044,550 D395G probably benign Het
Fam227a A T 15: 79,643,938 probably benign Het
Fap A G 2: 62,573,498 V11A probably benign Het
Ganc A G 2: 120,433,757 D397G probably damaging Het
Gm13023 A G 4: 143,793,010 S114G probably damaging Het
Gm8989 T C 7: 106,330,273 noncoding transcript Het
Gria2 A T 3: 80,706,937 W599R probably damaging Het
Ighv1-64 A G 12: 115,507,616 S94P probably benign Het
Kifc3 C T 8: 95,109,879 A85T probably damaging Het
Lifr G A 15: 7,164,693 probably null Het
Lonp2 T G 8: 86,624,246 S21R probably benign Het
Nxpe3 A G 16: 55,890,586 V30A probably benign Het
Olfml1 T C 7: 107,567,803 V13A probably benign Het
Olfr1490 T C 19: 13,655,233 V268A probably benign Het
Olfr366 A G 2: 37,219,669 Y60C probably damaging Het
Pcnt G A 10: 76,375,162 Q2376* probably null Het
Pglyrp2 A G 17: 32,417,022 L380P probably damaging Het
Plin3 A G 17: 56,286,636 V26A probably benign Het
Rims1 A G 1: 22,483,207 I470T probably damaging Het
Rora T C 9: 69,374,092 Y329H probably damaging Het
Scnn1b G A 7: 121,917,547 R503H probably damaging Het
Sec14l1 A G 11: 117,144,849 D237G possibly damaging Het
Selplg A G 5: 113,819,406 S280P probably benign Het
Serpina12 A G 12: 104,037,881 L164P probably benign Het
Sik2 C T 9: 50,917,603 W176* probably null Het
Slc2a1 T C 4: 119,136,415 F483S possibly damaging Het
Speg A G 1: 75,423,915 D2573G possibly damaging Het
Stil C T 4: 115,010,111 S239L probably damaging Het
Tmem94 C A 11: 115,794,745 S941R probably damaging Het
Tnfrsf11b T A 15: 54,252,382 D273V probably damaging Het
Tns2 A G 15: 102,112,290 T864A probably benign Het
Zfpm2 A G 15: 41,099,494 H184R probably damaging Het
Other mutations in Gjb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Gjb6 APN 14 57124041 missense possibly damaging 0.93
IGL01683:Gjb6 APN 14 57124358 missense probably benign
IGL01982:Gjb6 APN 14 57124573 missense probably damaging 1.00
IGL02322:Gjb6 APN 14 57124275 missense probably damaging 1.00
IGL02355:Gjb6 APN 14 57124295 missense possibly damaging 0.92
R2014:Gjb6 UTSW 14 57124756 missense probably damaging 0.98
R4672:Gjb6 UTSW 14 57124778 missense probably benign
R6480:Gjb6 UTSW 14 57124442 missense probably benign 0.25
R7409:Gjb6 UTSW 14 57124153 nonsense probably null
R8228:Gjb6 UTSW 14 57124469 missense probably benign 0.00
R8346:Gjb6 UTSW 14 57124802 start codon destroyed probably null 1.00
R8381:Gjb6 UTSW 14 57124462 missense probably benign 0.00
Posted On2015-04-16