Incidental Mutation 'IGL00801:Gjb6'
ID10962
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 #IGL00801
Quality Score
Status
Chromosome14
Chromosomal Location57123303-57133611 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57124041 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 254 (N254K)
Ref Sequence ENSEMBL: ENSMUSP00000035630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039380] [ENSMUST00000160703]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039380
AA Change: N254K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035630
Gene: ENSMUSG00000040055
AA Change: N254K

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,881,386 T524A possibly damaging Het
Abcb7 T C X: 104,295,978 I562V possibly damaging Het
Anapc4 T A 5: 52,857,211 V472D probably damaging Het
Arhgef37 A G 18: 61,499,834 Y511H probably damaging Het
Atxn3 A G 12: 101,926,508 S316P possibly damaging Het
B3galt1 A T 2: 68,117,976 T12S possibly damaging Het
Cdc14a G T 3: 116,294,844 S394* probably null Het
Celsr3 T C 9: 108,842,576 V2458A probably benign Het
Cyr61 T A 3: 145,648,610 D182V probably damaging Het
Dapk1 C T 13: 60,761,248 T1225I probably benign Het
Fyb A G 15: 6,644,824 K647R possibly damaging Het
Gabra5 C A 7: 57,488,988 W104L probably damaging Het
Golga4 T A 9: 118,538,926 L371Q probably damaging Het
Gucy2g C T 19: 55,233,103 R322Q probably benign Het
Hnf1b C T 11: 83,855,924 A122V probably damaging Het
Insrr C T 3: 87,813,808 L1089F probably damaging Het
Knop1 A G 7: 118,852,644 V284A probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Map1b C T 13: 99,430,097 E2039K unknown Het
Myof A G 19: 37,986,073 I206T probably damaging Het
Nf1 A T 11: 79,428,700 probably benign Het
Nol8 A G 13: 49,662,228 D586G probably benign Het
Nudt5 T C 2: 5,866,357 F166S probably damaging Het
Ociad1 T A 5: 73,304,566 Y87N probably damaging Het
Qtrt2 T C 16: 43,881,189 K3E probably damaging Het
Rictor G A 15: 6,794,534 V1627I probably damaging Het
Skint2 A T 4: 112,625,991 M198L possibly damaging Het
Slitrk5 A G 14: 111,680,665 M574V probably benign Het
Thbs1 A G 2: 118,122,973 D957G probably damaging Het
Tmem198b A C 10: 128,803,145 L43R probably damaging Het
Trpa1 A G 1: 14,891,333 M627T probably damaging Het
Zdbf2 T C 1: 63,303,038 F192S possibly damaging Het
Zfp961 T G 8: 71,965,888 M54R probably damaging Het
Other mutations in Gjb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02362: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
Posted On2012-12-06