Incidental Mutation 'IGL00922:Gjb4'
ID27243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb4
Ensembl Gene ENSMUSG00000046623
Gene Namegap junction protein, beta 4
SynonymsCx30.3, Gjb-4, connexin 30.3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00922
Quality Score
Status
Chromosome4
Chromosomal Location127351086-127354081 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127351353 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 265 (Y265C)
Ref Sequence ENSEMBL: ENSMUSP00000101696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046498] [ENSMUST00000060419] [ENSMUST00000106090]
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: Y265C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623
AA Change: Y265C

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: Y265C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623
AA Change: Y265C

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
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik T C 5: 114,947,177 probably null Het
Atr T A 9: 95,907,345 M1518K probably damaging Het
Baiap2l1 C T 5: 144,318,967 G59D probably damaging Het
BC051019 C A 7: 109,720,676 C60F probably benign Het
Brms1l A G 12: 55,845,326 Y135C probably benign Het
Cachd1 T A 4: 100,966,966 S535T probably benign Het
Ccdc155 T C 7: 45,185,306 E532G possibly damaging Het
Chkb C T 15: 89,422,288 probably null Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cobl T A 11: 12,254,866 D605V probably damaging Het
Ddx54 T A 5: 120,623,810 probably null Het
Dnah6 A T 6: 73,033,526 probably benign Het
Dnaja2 A T 8: 85,555,237 V4E probably damaging Het
Dnajc22 T G 15: 99,101,579 L215R possibly damaging Het
Drc7 G A 8: 95,077,978 V874I probably benign Het
Foxa2 A C 2: 148,044,818 S26A possibly damaging Het
Gal A T 19: 3,411,575 V70E probably benign Het
Hc A G 2: 34,991,668 S1423P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Map3k6 C T 4: 133,243,044 probably benign Het
Matn1 A T 4: 130,952,974 Q454L probably benign Het
Mlxip A T 5: 123,440,065 N148I probably damaging Het
Mre11a T C 9: 14,799,588 F193L probably damaging Het
Myo1h T C 5: 114,360,485 Y881H probably damaging Het
Nphp4 C T 4: 152,537,309 probably benign Het
Olfr803 T G 10: 129,691,454 I196L probably benign Het
Ptpn13 T A 5: 103,588,088 V2151D probably damaging Het
Rnf141 T C 7: 110,833,734 probably benign Het
Rpe65 A C 3: 159,614,542 D277A probably damaging Het
Sec14l1 C T 11: 117,153,229 T521M possibly damaging Het
Slc25a30 A T 14: 75,769,598 Y153N probably damaging Het
Slc6a12 C T 6: 121,360,455 A366V probably damaging Het
Trp53bp1 T A 2: 121,208,482 T1367S probably damaging Het
Vmn2r71 T G 7: 85,618,693 S118R probably benign Het
Other mutations in Gjb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Gjb4 APN 4 127351626 missense possibly damaging 0.96
IGL03075:Gjb4 APN 4 127351593 missense possibly damaging 0.92
K3955:Gjb4 UTSW 4 127351500 missense probably benign 0.06
P0038:Gjb4 UTSW 4 127351500 missense probably benign 0.06
R1710:Gjb4 UTSW 4 127351870 missense possibly damaging 0.62
R3824:Gjb4 UTSW 4 127351429 missense probably benign 0.00
R4664:Gjb4 UTSW 4 127351778 missense probably damaging 1.00
R4666:Gjb4 UTSW 4 127351778 missense probably damaging 1.00
R5955:Gjb4 UTSW 4 127351952 nonsense probably null
Z1177:Gjb4 UTSW 4 127352127 missense possibly damaging 0.57
Posted On2013-04-17