Incidental Mutation 'P0038:Gjb4'
ID 7780
Institutional Source Beutler Lab
Gene Symbol Gjb4
Ensembl Gene ENSMUSG00000046623
Gene Name gap junction protein, beta 4
Synonyms connexin 30.3, Cx30.3, Gjb-4
MMRRC Submission 038287-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # P0038 (G1)
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 127244879-127247874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127245293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 216 (V216D)
Ref Sequence ENSEMBL: ENSMUSP00000101696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046498] [ENSMUST00000060419] [ENSMUST00000106090]
AlphaFold Q02738
Predicted Effect probably benign
Transcript: ENSMUST00000046498
SMART Domains Protein: ENSMUSP00000045325
Gene: ENSMUSG00000042357

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
CNX 42 75 1.99e-19 SMART
Connexin_CCC 139 206 1.42e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060419
AA Change: V216D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623
AA Change: V216D

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 9.16e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 208 6.28e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106090
AA Change: V216D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623
AA Change: V216D

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 9.16e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 208 6.28e-35 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 79.6%
  • 3x: 69.7%
  • 10x: 40.2%
  • 20x: 18.1%
Validation Efficiency 86% (80/93)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a reporter allele display reduced behavioral responses to a vanilla scent, suggesting impaired olfaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2b C A 12: 5,004,536 (GRCm39) probably benign Het
Atmin T A 8: 117,683,775 (GRCm39) C478* probably null Het
Cdh13 G A 8: 119,401,843 (GRCm39) V82M probably damaging Het
Dip2c A C 13: 9,697,018 (GRCm39) T1310P probably damaging Het
Eral1 A T 11: 77,966,847 (GRCm39) D189E probably damaging Het
Fstl5 A G 3: 76,052,369 (GRCm39) Y33C probably damaging Het
Lars2 T C 9: 123,206,842 (GRCm39) V103A probably damaging Het
Mfsd12 C T 10: 81,198,052 (GRCm39) T311I probably benign Het
Mtrex A C 13: 113,047,513 (GRCm39) Y277* probably null Het
Paf1 T C 7: 28,096,350 (GRCm39) probably null Het
Rfc1 T C 5: 65,445,304 (GRCm39) T435A probably damaging Het
Siglec1 T C 2: 130,923,359 (GRCm39) N462S probably benign Het
Tnks1bp1 C T 2: 84,892,755 (GRCm39) T232I probably benign Het
Trpc6 A T 9: 8,649,512 (GRCm39) N574I possibly damaging Het
Ttll7 T C 3: 146,650,939 (GRCm39) F700L possibly damaging Het
Zc3hav1 G A 6: 38,309,469 (GRCm39) T451M probably damaging Het
Other mutations in Gjb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Gjb4 APN 4 127,245,146 (GRCm39) missense probably benign 0.00
IGL01629:Gjb4 APN 4 127,245,419 (GRCm39) missense possibly damaging 0.96
IGL03075:Gjb4 APN 4 127,245,386 (GRCm39) missense possibly damaging 0.92
K3955:Gjb4 UTSW 4 127,245,293 (GRCm39) missense probably benign 0.06
R1710:Gjb4 UTSW 4 127,245,663 (GRCm39) missense possibly damaging 0.62
R3824:Gjb4 UTSW 4 127,245,222 (GRCm39) missense probably benign 0.00
R4664:Gjb4 UTSW 4 127,245,571 (GRCm39) missense probably damaging 1.00
R4666:Gjb4 UTSW 4 127,245,571 (GRCm39) missense probably damaging 1.00
R5955:Gjb4 UTSW 4 127,245,745 (GRCm39) nonsense probably null
R9626:Gjb4 UTSW 4 127,246,081 (GRCm39) start gained probably benign
Z1177:Gjb4 UTSW 4 127,245,920 (GRCm39) missense possibly damaging 0.57
Posted On 2012-10-29