Incidental Mutation 'R5444:Gjc3'
ID 427329
Institutional Source Beutler Lab
Gene Symbol Gjc3
Ensembl Gene ENSMUSG00000056966
Gene Name gap junction protein, gamma 3
Synonyms connexin 29, Cx29, Gje1
MMRRC Submission 043009-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5444 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 137951723-137961360 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137955809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 159 (L159F)
Ref Sequence ENSEMBL: ENSMUSP00000076367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077119]
AlphaFold Q921C1
Predicted Effect probably damaging
Transcript: ENSMUST00000077119
AA Change: L159F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076367
Gene: ENSMUSG00000056966
AA Change: L159F

DomainStartEndE-ValueType
Blast:CNX 53 86 7e-11 BLAST
Connexin_CCC 159 225 8.64e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199083
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A G 5: 26,684,735 (GRCm39) noncoding transcript Het
Adam11 A G 11: 102,663,674 (GRCm39) Q284R probably damaging Het
Adamts17 T A 7: 66,691,647 (GRCm39) H610Q probably benign Het
Alg6 A G 4: 99,629,816 (GRCm39) Y131C probably benign Het
Apol9b T C 15: 77,619,963 (GRCm39) I253T probably damaging Het
Asb4 T A 6: 5,431,040 (GRCm39) I425N probably damaging Het
Atic T C 1: 71,615,876 (GRCm39) L474P probably damaging Het
B3glct C T 5: 149,669,985 (GRCm39) T318I probably damaging Het
Bbs7 T C 3: 36,666,199 (GRCm39) K22E possibly damaging Het
Cdk17 T G 10: 93,053,823 (GRCm39) probably null Het
Cemip T A 7: 83,631,499 (GRCm39) T438S probably damaging Het
Chd2 T C 7: 73,122,833 (GRCm39) E967G probably damaging Het
Cyp2d26 G T 15: 82,676,739 (GRCm39) D202E probably benign Het
Dhdds G A 4: 133,698,447 (GRCm39) R295* probably null Het
Eef2kmt G A 16: 5,066,959 (GRCm39) probably benign Het
Fn3krp G A 11: 121,312,430 (GRCm39) probably null Het
Gm28434 T C 5: 88,127,147 (GRCm39) probably benign Het
Gp2 G A 7: 119,053,821 (GRCm39) P47S possibly damaging Het
Irf7 C T 7: 140,844,732 (GRCm39) probably benign Het
Itgb8 T C 12: 119,201,573 (GRCm39) probably benign Het
Kcnb2 A T 1: 15,781,716 (GRCm39) I863F probably benign Het
Lamb1 T C 12: 31,348,908 (GRCm39) F647L possibly damaging Het
Mccc1 T A 3: 36,030,891 (GRCm39) M392L probably benign Het
Mtmr10 T C 7: 63,938,149 (GRCm39) probably null Het
Ncstn A C 1: 171,900,406 (GRCm39) V223G possibly damaging Het
Neurl3 G T 1: 36,308,571 (GRCm39) F80L probably damaging Het
Nf1 T C 11: 79,334,785 (GRCm39) M869T possibly damaging Het
Nfatc2 A G 2: 168,376,810 (GRCm39) probably benign Het
Nnat T C 2: 157,403,137 (GRCm39) F26S possibly damaging Het
Nos1ap T C 1: 170,202,820 (GRCm39) Y109C probably damaging Het
Nup205 T A 6: 35,166,124 (GRCm39) D194E probably damaging Het
Or10ak11 T A 4: 118,687,308 (GRCm39) I109L probably benign Het
Or3a4 T C 11: 73,944,803 (GRCm39) S261G probably benign Het
Or52k2 C T 7: 102,254,076 (GRCm39) R172* probably null Het
Or5b109 A T 19: 13,212,322 (GRCm39) Q236L probably benign Het
Or9g3 A T 2: 85,590,263 (GRCm39) F152L probably benign Het
Ostf1 A G 19: 18,558,677 (GRCm39) L202S probably benign Het
Pdzrn4 T A 15: 92,668,806 (GRCm39) M747K probably damaging Het
Plxnb1 A G 9: 108,935,521 (GRCm39) D1019G probably benign Het
Pnlip A G 19: 58,661,595 (GRCm39) I95V probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppp1r13b T A 12: 111,805,122 (GRCm39) T197S probably benign Het
Rasgrp3 A T 17: 75,810,370 (GRCm39) I357F probably damaging Het
Rbmxl2 G C 7: 106,809,044 (GRCm39) G110R probably damaging Het
Relch C T 1: 105,654,109 (GRCm39) T826I possibly damaging Het
Rgs22 T C 15: 36,015,773 (GRCm39) D1037G possibly damaging Het
Rnf215 A G 11: 4,085,843 (GRCm39) I107M probably benign Het
Rybp A T 6: 100,264,231 (GRCm39) M3K probably damaging Het
Sgo2b T C 8: 64,379,590 (GRCm39) S1081G possibly damaging Het
Slfn10-ps C T 11: 82,926,113 (GRCm39) noncoding transcript Het
Spag17 T C 3: 99,963,468 (GRCm39) V1062A probably benign Het
Sult2a1 A T 7: 13,569,944 (GRCm39) I96K possibly damaging Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Thbs3 T C 3: 89,130,692 (GRCm39) probably benign Het
Tmub2 T C 11: 102,179,066 (GRCm39) L255S possibly damaging Het
Trank1 T A 9: 111,222,026 (GRCm39) L2921Q probably benign Het
Trappc14 A T 5: 138,259,260 (GRCm39) probably null Het
Tuba8 A T 6: 121,203,060 (GRCm39) probably benign Het
Vmn2r25 T C 6: 123,805,451 (GRCm39) I469V probably benign Het
Zfp1007 A T 5: 109,823,502 (GRCm39) Y649* probably null 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
R6964:Gjc3 UTSW 5 137,955,759 (GRCm39) missense probably benign 0.04
R8514:Gjc3 UTSW 5 137,955,772 (GRCm39) missense probably damaging 1.00
Z1177:Gjc3 UTSW 5 137,955,823 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATAAGAAACAGGCCCCGCTG -3'
(R):5'- GACCATTTGCTATGATGTCTTCCG -3'

Sequencing Primer
(F):5'- CGCTGATCCCAAACATGATGTTGAG -3'
(R):5'- AGTCATTCTGATGGCTGTACCCAG -3'
Posted On 2016-09-01