Incidental Mutation 'IGL01517:Gjb3'
ID90436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb3
Ensembl Gene ENSMUSG00000042367
Gene Namegap junction protein, beta 3
SynonymsD4Wsu144e, Gjb-3, Cx31, connexin 31, Cnx31
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01517
Quality Score
Status
Chromosome4
Chromosomal Location127325235-127330844 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 127326121 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 206 (I206S)
Ref Sequence ENSEMBL: ENSMUSP00000101697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046532] [ENSMUST00000106091]
Predicted Effect probably damaging
Transcript: ENSMUST00000046532
AA Change: I206S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046755
Gene: ENSMUSG00000042367
AA Change: I206S

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 3.47e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 209 3.05e-33 SMART
low complexity region 219 237 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106091
AA Change: I206S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101697
Gene: ENSMUSG00000042367
AA Change: I206S

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 3.47e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 209 3.05e-33 SMART
low complexity region 219 237 N/A INTRINSIC
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 is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit partial lethality and transient placental dysmorphogenesis but no impairment in hearing or skin differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,390,192 probably benign Het
Arpc1b A G 5: 145,127,869 probably benign Het
Ccdc54 G A 16: 50,589,917 L329F possibly damaging Het
Cdc42bpg G A 19: 6,318,437 R1055H probably damaging Het
Cylc1 A G X: 111,119,030 T29A possibly damaging Het
Ddx50 T C 10: 62,647,132 T53A probably benign Het
Dmap1 G A 4: 117,676,009 R283C probably damaging Het
Extl3 A T 14: 65,076,707 L342H probably damaging Het
Gphn T A 12: 78,376,374 I53K probably damaging Het
Gpr22 C T 12: 31,708,710 probably benign Het
Inpp5b T A 4: 124,782,436 C362S probably benign Het
Iqgap3 C A 3: 88,109,396 Q1062K probably benign Het
Kdm2a A G 19: 4,362,061 probably benign Het
Ltbp3 A G 19: 5,757,732 D1167G possibly damaging Het
Mpo A G 11: 87,795,821 N65D possibly damaging Het
Mrpl2 A G 17: 46,649,983 R268G probably damaging Het
Nfkbia C T 12: 55,490,645 A220T probably damaging Het
Nlrc3 T A 16: 3,947,487 I1091F probably damaging Het
Notch2 T A 3: 98,138,655 S1674R probably benign Het
Olfr298 T C 7: 86,489,557 probably benign Het
Olfr63 T A 17: 33,269,655 N310K probably benign Het
Pde8b A G 13: 95,100,887 probably null Het
Pla2r1 A G 2: 60,504,253 Y392H probably damaging Het
Plekhm1 A T 11: 103,394,783 N275K possibly damaging Het
Prdm16 T C 4: 154,328,425 H1041R probably damaging Het
Rapsn C A 2: 91,036,618 N88K probably damaging Het
Rasef T A 4: 73,769,822 Q31H probably benign Het
Rpl28-ps4 T C 6: 117,213,852 noncoding transcript Het
Trpc7 T C 13: 56,861,065 Y263C probably damaging Het
Ttn T C 2: 76,747,596 T24318A probably damaging Het
Vmn1r35 T C 6: 66,679,450 T79A probably benign Het
Vmn2r100 T A 17: 19,521,963 S200T probably benign Het
Wnt9b A G 11: 103,731,081 V250A probably benign Het
Zyg11a T A 4: 108,201,194 K383M probably null Het
Other mutations in Gjb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02398:Gjb3 APN 4 127326062 missense probably benign 0.00
IGL02501:Gjb3 APN 4 127326364 missense probably damaging 1.00
IGL02680:Gjb3 APN 4 127326022 missense probably damaging 0.98
R0118:Gjb3 UTSW 4 127326658 missense probably damaging 1.00
R0481:Gjb3 UTSW 4 127326332 missense probably benign 0.00
R1142:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1250:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1279:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1280:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1281:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1282:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1322:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1324:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1325:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1341:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1382:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1799:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1834:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R1836:Gjb3 UTSW 4 127326431 missense probably damaging 1.00
R4650:Gjb3 UTSW 4 127326691 missense probably damaging 1.00
R5026:Gjb3 UTSW 4 127326487 missense probably damaging 1.00
R6310:Gjb3 UTSW 4 127326640 missense probably damaging 0.99
R6357:Gjb3 UTSW 4 127326630 nonsense probably null
Posted On2013-12-09