Incidental Mutation 'IGL02398:Gjb3'
ID291761
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 #IGL02398
Quality Score
Status
Chromosome4
Chromosomal Location127325235-127330844 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 127326062 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 226 (S226C)
Ref Sequence ENSEMBL: ENSMUSP00000101697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046532] [ENSMUST00000106091]
Predicted Effect probably benign
Transcript: ENSMUST00000046532
AA Change: S226C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046755
Gene: ENSMUSG00000042367
AA Change: S226C

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 benign
Transcript: ENSMUST00000106091
AA Change: S226C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101697
Gene: ENSMUSG00000042367
AA Change: S226C

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,402,824 C160* probably null Het
Alkbh8 C T 9: 3,345,870 P197S possibly damaging Het
Ankef1 A C 2: 136,555,782 N761T probably damaging Het
Ankrd7 A G 6: 18,866,697 Y72C probably damaging Het
Cfap36 T G 11: 29,222,833 M231L probably benign Het
Cog7 A G 7: 121,964,209 C227R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspg4 A T 9: 56,886,686 E568D probably benign Het
Cwc27 G A 13: 104,804,254 T199I possibly damaging Het
Cyp26a1 A G 19: 37,700,019 I330V probably benign Het
Dcaf7 T C 11: 106,053,753 V254A probably benign Het
Dhrs7 G A 12: 72,664,692 R24C probably damaging Het
Ehmt2 T A 17: 34,908,479 C838S probably damaging Het
Fn1 A T 1: 71,618,670 probably null Het
Gm14496 A G 2: 181,996,170 I346V probably benign Het
Gm5926 A G X: 32,651,386 D224G probably damaging Het
Gm8050 T C 14: 6,717,330 E172G probably damaging Het
Higd1a G A 9: 121,852,524 R22W probably damaging Het
Hmcn1 A G 1: 150,802,897 L491S possibly damaging Het
Igsf9b T C 9: 27,333,130 S794P possibly damaging Het
Irgm2 A T 11: 58,219,929 I161F probably damaging Het
Lrp8 G T 4: 107,847,494 V304F probably damaging Het
Lrp8 C A 4: 107,869,048 S850R probably damaging Het
Lrrc9 A T 12: 72,466,903 M513L probably benign Het
Myo18b A T 5: 112,830,312 V1248E possibly damaging Het
Myo1b A T 1: 51,757,891 N945K probably damaging Het
Nipbl A G 15: 8,327,090 L1604P probably damaging Het
Oas1f A T 5: 120,851,505 Y169F probably benign Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr1054 A T 2: 86,332,524 Y277* probably null Het
Olfr444 A T 6: 42,956,112 I205F probably benign Het
Olfr584 G A 7: 103,086,106 C191Y probably damaging Het
Parp8 A G 13: 116,910,863 probably null Het
Pde4dip T C 3: 97,766,781 Y273C probably benign Het
Pgbd5 C T 8: 124,384,518 A54T probably damaging Het
Pglyrp4 G A 3: 90,739,117 probably benign Het
Piezo1 A T 8: 122,486,563 S1819R probably benign Het
Polr1a T C 6: 71,936,556 probably benign Het
Polr1b A G 2: 129,102,966 I61V probably benign Het
Prlhr G T 19: 60,467,315 A271E probably damaging Het
Rad23b C T 4: 55,350,360 probably benign Het
Rad51ap1 A T 6: 126,928,151 S132R probably damaging Het
Ros1 T A 10: 52,144,884 probably benign Het
Ryr3 T C 2: 112,847,422 D1327G probably benign Het
Slit1 A C 19: 41,602,237 V1332G probably damaging Het
Tmem178b A G 6: 40,207,527 M120V probably damaging Het
Trim25 T C 11: 88,999,804 C106R probably damaging Het
Trim35 A G 14: 66,309,248 Y488C probably damaging Het
Tsc2 A T 17: 24,621,729 H326Q probably damaging Het
Yap1 A T 9: 7,950,535 I315K probably benign Het
Zfp654 A G 16: 64,786,018 V607A probably benign Het
Other mutations in Gjb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Gjb3 APN 4 127326121 missense probably damaging 0.99
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 On2015-04-16