Incidental Mutation 'IGL02114:Gja8'
ID280299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gja8
Ensembl Gene ENSMUSG00000049908
Gene Namegap junction protein, alpha 8
SynonymsCx50, Cnx50, alpha 8 connexin, connexin 50, Lop10, Aey5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02114
Quality Score
Status
Chromosome3
Chromosomal Location96913566-96926020 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 96920025 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 107 (K107R)
Ref Sequence ENSEMBL: ENSMUSP00000049532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062944] [ENSMUST00000199597]
Predicted Effect probably benign
Transcript: ENSMUST00000062944
AA Change: K107R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: K107R

DomainStartEndE-ValueType
CNX 43 76 1.76e-20 SMART
low complexity region 134 147 N/A INTRINSIC
Connexin_CCC 168 234 2.8e-41 SMART
Pfam:Connexin50 267 333 7.3e-35 PFAM
low complexity region 337 355 N/A INTRINSIC
low complexity region 423 438 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199597
SMART Domains Protein: ENSMUSP00000143542
Gene: ENSMUSG00000057123

DomainStartEndE-ValueType
CNX 43 76 3.47e-19 SMART
Connexin_CCC 163 229 2.45e-37 SMART
Pfam:Connexin40_C 257 358 2.4e-33 PFAM
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 necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Aqp8 C A 7: 123,464,196 H90N probably damaging Het
Arih1 A T 9: 59,426,169 C229S probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Ecsit T C 9: 22,078,144 probably benign Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Kcne3 T A 7: 100,184,490 probably benign Het
Larp1 T C 11: 58,057,055 Y926H probably damaging Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Olfr273 T A 4: 52,856,144 Y123F probably damaging Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
Qdpr G A 5: 45,434,676 T106I possibly damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Traf2 T C 2: 25,524,992 I286V possibly damaging Het
Vmn2r30 T C 7: 7,337,409 I29V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Gja8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Gja8 APN 3 96919242 missense probably benign
IGL02237:Gja8 APN 3 96919933 missense probably benign 0.00
IGL03204:Gja8 APN 3 96920092 missense probably damaging 1.00
L1 UTSW 3 96920197 missense probably damaging 1.00
R1024:Gja8 UTSW 3 96919424 missense probably benign 0.00
R2215:Gja8 UTSW 3 96919902 missense probably damaging 0.98
R2240:Gja8 UTSW 3 96920302 missense probably benign 0.05
R2510:Gja8 UTSW 3 96919717 missense probably damaging 1.00
R2511:Gja8 UTSW 3 96919717 missense probably damaging 1.00
R2926:Gja8 UTSW 3 96919153 missense probably benign 0.00
R3725:Gja8 UTSW 3 96919845 missense probably damaging 1.00
R4090:Gja8 UTSW 3 96919152 missense probably benign 0.00
R4933:Gja8 UTSW 3 96919035 intron probably benign
R5010:Gja8 UTSW 3 96919849 missense probably benign 0.24
R5497:Gja8 UTSW 3 96920197 missense probably damaging 1.00
R5532:Gja8 UTSW 3 96920332 missense probably benign 0.39
R6997:Gja8 UTSW 3 96919341 missense probably benign
R7381:Gja8 UTSW 3 96920022 missense probably benign
R7576:Gja8 UTSW 3 96919893 missense probably benign 0.05
R7792:Gja8 UTSW 3 96919776 missense probably damaging 1.00
R7827:Gja8 UTSW 3 96920319 missense possibly damaging 0.52
Z1177:Gja8 UTSW 3 96920236 missense probably damaging 1.00
Posted On2015-04-16