Incidental Mutation 'IGL01982:Gjb6'
ID 182772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb6
Ensembl Gene ENSMUSG00000040055
Gene Name gap junction protein, beta 6
Synonyms D14Bwg0506e, connexin 30, Cx30
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01982
Quality Score
Status
Chromosome 14
Chromosomal Location 57360760-57371068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57362030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 77 (W77L)
Ref Sequence ENSEMBL: ENSMUSP00000124927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039380] [ENSMUST00000160703]
AlphaFold P70689
Predicted Effect probably damaging
Transcript: ENSMUST00000039380
AA Change: W77L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035630
Gene: ENSMUSG00000040055
AA Change: W77L

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Connexin_CCC 146 213 5.95e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160703
AA Change: W77L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124927
Gene: ENSMUSG00000040055
AA Change: W77L

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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,385,857 (GRCm39) S254A probably benign Het
Abca7 T G 10: 79,838,475 (GRCm39) L583R probably damaging Het
Acp1 A T 12: 30,961,491 (GRCm39) L14H possibly damaging Het
Adar A G 3: 89,645,397 (GRCm39) I3V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1l1 A G 6: 90,536,845 (GRCm39) I103V probably benign Het
Asic3 C A 5: 24,622,719 (GRCm39) T523N probably benign Het
Aspm T C 1: 139,419,326 (GRCm39) V1732A probably benign Het
Atad3a C T 4: 155,838,384 (GRCm39) R211Q possibly damaging Het
Bahcc1 A G 11: 120,178,299 (GRCm39) Y2286C probably damaging Het
BC034090 T C 1: 155,099,078 (GRCm39) E569G probably damaging Het
Bpifb3 A G 2: 153,767,521 (GRCm39) N237S probably benign Het
Bysl C A 17: 47,921,996 (GRCm39) probably null Het
C2cd6 T C 1: 59,106,932 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,861,003 (GRCm39) F925L probably damaging Het
Cdca2 A T 14: 67,915,168 (GRCm39) V697E probably damaging Het
Cers1 A G 8: 70,776,081 (GRCm39) D324G probably damaging Het
Ctsq T A 13: 61,186,732 (GRCm39) I91F probably benign Het
Ctsq C T 13: 61,187,335 (GRCm39) C11Y probably benign Het
Cyp11b1 T C 15: 74,711,252 (GRCm39) N142S possibly damaging Het
Cyp3a59 G T 5: 146,041,545 (GRCm39) S363I probably benign Het
Eps15l1 A T 8: 73,132,919 (GRCm39) D567E probably benign Het
Esf1 G A 2: 140,006,448 (GRCm39) A233V probably benign Het
Fras1 A T 5: 96,887,107 (GRCm39) I2630F possibly damaging Het
Fyb1 A T 15: 6,609,658 (GRCm39) E77V probably null Het
Gm21983 A G 7: 26,879,703 (GRCm39) V88A possibly damaging Het
Gm8247 A G 14: 44,823,088 (GRCm39) T52A probably damaging Het
Gpr108 T C 17: 57,544,877 (GRCm39) K329E probably damaging Het
Gpr141 T A 13: 19,935,908 (GRCm39) H289L probably benign Het
Ilvbl T C 10: 78,414,856 (GRCm39) Y240H probably damaging Het
Kntc1 G A 5: 123,947,159 (GRCm39) A1868T probably benign Het
Lrmda A C 14: 22,634,550 (GRCm39) N112T probably damaging Het
Ly75 T C 2: 60,142,108 (GRCm39) Y1334C probably damaging Het
Macc1 C A 12: 119,409,369 (GRCm39) P46T probably benign Het
Madd A T 2: 91,006,052 (GRCm39) F381Y probably damaging Het
Map3k20 C T 2: 72,128,677 (GRCm39) Q38* probably null Het
Mcm4 A T 16: 15,448,284 (GRCm39) D424E possibly damaging Het
Micu1 T A 10: 59,699,100 (GRCm39) M463K possibly damaging Het
Mkrn2os A G 6: 115,562,492 (GRCm39) L157P probably damaging Het
Nectin2 A G 7: 19,451,487 (GRCm39) S516P probably damaging Het
Nme5 T A 18: 34,702,928 (GRCm39) D120V probably damaging Het
Npy4r T C 14: 33,869,282 (GRCm39) N2S possibly damaging Het
Nup107 A T 10: 117,595,245 (GRCm39) probably benign Het
Omd T C 13: 49,742,973 (GRCm39) Y8H possibly damaging Het
Phf8-ps T G 17: 33,285,289 (GRCm39) E504D probably benign Het
Ppp1r15a T C 7: 45,173,803 (GRCm39) probably benign Het
Ppp2ca T C 11: 51,989,891 (GRCm39) F6L probably benign Het
Rab1a T C 11: 20,174,717 (GRCm39) S97P probably benign Het
Ranbp3l G A 15: 9,058,827 (GRCm39) G359R probably damaging Het
Rnf213 A T 11: 119,334,094 (GRCm39) H3101L probably damaging Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Slco4a1 T C 2: 180,114,946 (GRCm39) V623A probably benign Het
Spart T A 3: 55,035,911 (GRCm39) probably null Het
Sptan1 A G 2: 29,909,980 (GRCm39) D1780G probably damaging Het
Tgm7 G T 2: 120,924,106 (GRCm39) Y605* probably null Het
Tmem106b T C 6: 13,071,968 (GRCm39) probably benign Het
Trak2 G A 1: 58,965,814 (GRCm39) A120V possibly damaging Het
Trappc8 G A 18: 21,007,769 (GRCm39) probably benign Het
Trim66 T C 7: 109,057,970 (GRCm39) T973A probably benign Het
Ttyh3 C A 5: 140,621,829 (GRCm39) probably benign Het
Ugt2b37 A C 5: 87,390,291 (GRCm39) I385S probably damaging Het
Usf3 A G 16: 44,039,180 (GRCm39) N1220S possibly damaging Het
Utrn A T 10: 12,623,773 (GRCm39) I155N probably damaging Het
Vps13b C T 15: 35,439,050 (GRCm39) Q377* probably null Het
Washc2 A T 6: 116,213,150 (GRCm39) E570D probably benign Het
Wscd1 T C 11: 71,657,699 (GRCm39) V168A possibly damaging Het
Zfp386 T A 12: 116,022,788 (GRCm39) C169S 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
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
R9558:Gjb6 UTSW 14 57,362,261 (GRCm39) start gained probably benign
Posted On 2014-05-07