Incidental Mutation 'IGL02387:Gja1'
ID291591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gja1
Ensembl Gene ENSMUSG00000050953
Gene Namegap junction protein, alpha 1
Synonymsconnexin43, Cx43alpha1, Gja-1, alpha 1 connexin, connexin 43, Cx43
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02387
Quality Score
Status
Chromosome10
Chromosomal Location56377330-56402513 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 56387806 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 87 (V87E)
Ref Sequence ENSEMBL: ENSMUSP00000151620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068581] [ENSMUST00000217789] [ENSMUST00000218444] [ENSMUST00000218834] [ENSMUST00000220069] [ENSMUST00000220194]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068581
AA Change: V87E

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064536
Gene: ENSMUSG00000050953
AA Change: V87E

DomainStartEndE-ValueType
CNX 43 76 5.34e-20 SMART
low complexity region 102 114 N/A INTRINSIC
Connexin_CCC 165 231 5.06e-39 SMART
Pfam:Connexin43 293 312 5e-14 PFAM
low complexity region 362 377 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217789
Predicted Effect probably benign
Transcript: ENSMUST00000218444
Predicted Effect probably benign
Transcript: ENSMUST00000218834
Predicted Effect possibly damaging
Transcript: ENSMUST00000220069
AA Change: V87E

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000220194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220204
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. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
PHENOTYPE: Mutant homozygotes are neonatal lethal with heart and outflow tract malformations, eye lens anomalies, and male germ cell deficiency. Conditional deletion in ovary affects follicular development, in astrocytes enhances locomotor activity, and in neural cells produces behavioral and neural defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 110,078,815 probably benign Het
Acap3 T G 4: 155,902,160 L311R probably damaging Het
Actr6 T A 10: 89,714,984 N316I probably damaging Het
Adarb2 T A 13: 8,569,958 V160E probably damaging Het
Atm A T 9: 53,479,766 probably null Het
Atp2b4 T C 1: 133,731,889 N445S probably damaging Het
Clic6 A G 16: 92,529,919 D464G probably damaging Het
Clk2 C T 3: 89,176,391 probably benign Het
Cyp4f40 A C 17: 32,668,010 T152P probably damaging Het
Dpp8 A T 9: 65,045,716 I225F probably damaging Het
Dspp A G 5: 104,175,624 Q211R possibly damaging Het
Gm8165 T C 14: 43,676,239 E56G possibly damaging Het
Gstp2 T A 19: 4,041,094 probably benign Het
Gucy2e A G 11: 69,236,116 V177A probably benign Het
Insrr G A 3: 87,813,127 R1024H probably damaging Het
Iqgap2 A G 13: 95,689,701 W538R probably benign Het
Lrrc71 T C 3: 87,743,071 I232V probably damaging Het
Mphosph8 T A 14: 56,695,721 N808K probably damaging Het
Olfr1100 T A 2: 86,977,849 R316* probably null Het
Pak6 T C 2: 118,693,233 S290P probably benign Het
Ptpro C T 6: 137,410,980 A734V probably damaging Het
Reg1 A T 6: 78,427,338 N65I probably damaging Het
Rnf17 T G 14: 56,500,587 I1275S probably damaging Het
Sfrp5 C T 19: 42,199,029 V201I probably benign Het
Sgsm1 T A 5: 113,253,063 H987L possibly damaging Het
Shank1 A T 7: 44,356,937 Y2026F possibly damaging Het
Slc15a2 T C 16: 36,751,775 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar8a T A 10: 24,077,362 I288N possibly damaging Het
Tpbpb T G 13: 60,901,854 *121C probably null Het
Trim29 A T 9: 43,324,852 N460I probably benign Het
Trp53tg5 T A 2: 164,471,456 I100F possibly damaging Het
Ubr2 T C 17: 46,963,150 T871A probably benign Het
Vrk1 A G 12: 106,070,544 E363G probably damaging Het
Zfyve19 C T 2: 119,216,426 probably benign Het
Other mutations in Gja1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Gja1 APN 10 56388322 missense probably benign 0.03
IGL01660:Gja1 APN 10 56388448 missense probably damaging 1.00
IGL02596:Gja1 APN 10 56388252 missense possibly damaging 0.77
R0607:Gja1 UTSW 10 56388070 missense possibly damaging 0.58
R1386:Gja1 UTSW 10 56387969 missense probably benign 0.01
R4084:Gja1 UTSW 10 56388511 missense possibly damaging 0.70
R4542:Gja1 UTSW 10 56388052 missense probably damaging 1.00
R4601:Gja1 UTSW 10 56388229 missense probably damaging 1.00
R5061:Gja1 UTSW 10 56387656 missense probably damaging 1.00
R5301:Gja1 UTSW 10 56388379 missense probably damaging 0.96
R5740:Gja1 UTSW 10 56388189 missense probably damaging 0.99
R5808:Gja1 UTSW 10 56388498 missense probably benign 0.14
R6120:Gja1 UTSW 10 56388505 missense probably benign 0.00
R6192:Gja1 UTSW 10 56388234 missense probably damaging 1.00
R7057:Gja1 UTSW 10 56388033 missense probably benign 0.30
R7227:Gja1 UTSW 10 56387656 missense probably damaging 1.00
Posted On2015-04-16