Incidental Mutation 'R8514:Gjc3'
ID 656024
Institutional Source Beutler Lab
Gene Symbol Gjc3
Ensembl Gene ENSMUSG00000056966
Gene Name gap junction protein, gamma 3
Synonyms connexin 29, Cx29, Gje1
MMRRC Submission 067945-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8514 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137951723-137961360 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137955772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 171 (Y171F)
Ref Sequence ENSEMBL: ENSMUSP00000076367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077119]
AlphaFold Q921C1
Predicted Effect probably damaging
Transcript: ENSMUST00000077119
AA Change: Y171F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076367
Gene: ENSMUSG00000056966
AA Change: Y171F

DomainStartEndE-ValueType
Blast:CNX 53 86 7e-11 BLAST
Connexin_CCC 159 225 8.64e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (49/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]
PHENOTYPE: Half of homozygotes for a null allele show delayed maturation of hearing thresholds, high-frequency hearing loss, vulnerability to noise damage and demyelination of spiral ganglion neurons. Homozygotes for another null allele show normal sciatic nerve conduction with no auditory or visual deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcam A G 7: 19,492,466 (GRCm39) V543A probably damaging Het
Calhm6 G A 10: 34,002,399 (GRCm39) T228I possibly damaging Het
Capn1 T C 19: 6,047,854 (GRCm39) E403G probably damaging Het
Casp12 T C 9: 5,352,735 (GRCm39) F186L probably damaging Het
Ccdc40 A G 11: 119,121,459 (GRCm39) Q13R unknown Het
Cip2a T C 16: 48,817,810 (GRCm39) V60A possibly damaging Het
Ckap2l G T 2: 129,127,788 (GRCm39) A130E possibly damaging Het
Creld1 C T 6: 113,469,830 (GRCm39) R411C probably damaging Het
Dock9 A T 14: 121,896,199 (GRCm39) S167T probably benign Het
Emc10 G T 7: 44,142,646 (GRCm39) Q99K probably damaging Het
Fryl T A 5: 73,242,699 (GRCm39) I1287L probably benign Het
Glrp1 GTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTG 1: 88,431,042 (GRCm39) probably benign Het
Golga4 T C 9: 118,384,864 (GRCm39) V662A possibly damaging Het
Gpr33 A G 12: 52,070,181 (GRCm39) V286A probably benign Het
Htr1d A G 4: 136,170,650 (GRCm39) E293G probably damaging Het
Ints6 A G 14: 62,933,166 (GRCm39) V847A possibly damaging Het
Iqsec3 A G 6: 121,390,521 (GRCm39) C317R unknown Het
Mdn1 T A 4: 32,739,857 (GRCm39) Y3704N probably damaging Het
Micall2 C A 5: 139,701,977 (GRCm39) R422L probably damaging Het
Mndal T C 1: 173,687,758 (GRCm39) D492G possibly damaging Het
Myom2 C T 8: 15,175,153 (GRCm39) P1244L possibly damaging Het
Notch1 A G 2: 26,362,181 (GRCm39) C1025R probably damaging Het
Nthl1 G A 17: 24,853,089 (GRCm39) V98M probably damaging Het
Or12e10 A T 2: 87,641,054 (GRCm39) I297F probably damaging Het
Or4a15 T C 2: 89,193,573 (GRCm39) I67V probably benign Het
Pank3 A G 11: 35,667,186 (GRCm39) D101G probably null Het
Phtf2 T C 5: 21,007,030 (GRCm39) R178G possibly damaging Het
Pitrm1 T C 13: 6,618,822 (GRCm39) probably null Het
Platr25 T C 13: 62,848,586 (GRCm39) Y92C probably damaging Het
Plpp1 A T 13: 112,971,462 (GRCm39) D43V probably damaging Het
Prg4 G A 1: 150,330,396 (GRCm39) T759I unknown Het
Pros1 A G 16: 62,730,472 (GRCm39) T321A probably benign Het
Rad50 G A 11: 53,569,766 (GRCm39) Q882* probably null Het
Rasa3 A C 8: 13,631,322 (GRCm39) F533V probably benign Het
Rgs18 T A 1: 144,629,765 (GRCm39) I165F probably damaging Het
Rtl1 C T 12: 109,560,307 (GRCm39) V511I possibly damaging Het
Sdc3 A G 4: 130,546,072 (GRCm39) T144A unknown Het
Slc9a9 T C 9: 94,818,418 (GRCm39) F271L probably benign Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spata31e5 C T 1: 28,817,586 (GRCm39) V149M probably damaging Het
Tcerg1 T A 18: 42,697,187 (GRCm39) D759E probably damaging Het
Tecta A G 9: 42,284,406 (GRCm39) L893P probably damaging Het
Tex101 T A 7: 24,367,957 (GRCm39) Q167L possibly damaging Het
Tnrc6a C T 7: 122,783,438 (GRCm39) R970* probably null Het
Trmt1l T C 1: 151,329,742 (GRCm39) S562P probably damaging Het
Tut4 T A 4: 108,414,554 (GRCm39) W44R possibly damaging Het
Ubn1 A G 16: 4,891,263 (GRCm39) E546G probably damaging Het
Usp38 T A 8: 81,712,346 (GRCm39) Q563L probably benign Het
Vmn1r1 C T 1: 181,985,138 (GRCm39) V176I probably benign Het
Vmn2r1 A G 3: 63,993,942 (GRCm39) K96R probably benign Het
Vmn2r62 A G 7: 42,413,992 (GRCm39) V817A probably benign Het
Wdfy3 A T 5: 101,999,219 (GRCm39) C3066S possibly damaging Het
Yeats4 T C 10: 117,051,660 (GRCm39) E199G possibly damaging Het
Other mutations in Gjc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Gjc3 APN 5 137,956,120 (GRCm39) missense probably damaging 0.97
IGL01404:Gjc3 APN 5 137,956,120 (GRCm39) missense probably damaging 0.97
IGL02741:Gjc3 APN 5 137,955,726 (GRCm39) nonsense probably null
R0130:Gjc3 UTSW 5 137,956,202 (GRCm39) missense probably benign 0.15
R0322:Gjc3 UTSW 5 137,955,760 (GRCm39) missense possibly damaging 0.87
R2141:Gjc3 UTSW 5 137,955,808 (GRCm39) missense probably damaging 1.00
R3885:Gjc3 UTSW 5 137,956,105 (GRCm39) missense possibly damaging 0.74
R3889:Gjc3 UTSW 5 137,956,105 (GRCm39) missense possibly damaging 0.74
R5209:Gjc3 UTSW 5 137,955,533 (GRCm39) missense probably benign 0.43
R5444:Gjc3 UTSW 5 137,955,809 (GRCm39) missense probably damaging 1.00
R6964:Gjc3 UTSW 5 137,955,759 (GRCm39) missense probably benign 0.04
Z1177:Gjc3 UTSW 5 137,955,823 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTCTCTGAAGTTGGCAAC -3'
(R):5'- TGATTGGATACTGGGAGGTACC -3'

Sequencing Primer
(F):5'- GAAAGTTTGTGCTTGTATATCCTCC -3'
(R):5'- TGGGAGGTACCAGGAAAGG -3'
Posted On 2020-10-20