Incidental Mutation 'IGL01504:Gja10'
ID 88985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gja10
Ensembl Gene ENSMUSG00000051056
Gene Name gap junction protein, alpha 10
Synonyms Cx59, Cx57, Cx-57, connexin-57
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01504
Quality Score
Status
Chromosome 4
Chromosomal Location 32596960-32602760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32602375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 3 (D3V)
Ref Sequence ENSEMBL: ENSMUSP00000151323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056517] [ENSMUST00000219644]
AlphaFold Q9WUS4
Predicted Effect probably damaging
Transcript: ENSMUST00000056517
AA Change: D3V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061742
Gene: ENSMUSG00000051056
AA Change: D3V

DomainStartEndE-ValueType
CNX 43 76 2.93e-17 SMART
Connexin_CCC 167 233 4.08e-43 SMART
low complexity region 445 461 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000219644
AA Change: D3V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are fertile with no obvious anatomical or behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,284,231 (GRCm39) I326N probably damaging Het
Acot6 G A 12: 84,156,176 (GRCm39) V375M probably benign Het
Als2cl G A 9: 110,718,351 (GRCm39) R364Q probably benign Het
Cpa1 A T 6: 30,640,720 (GRCm39) T121S probably benign Het
Ctnnbl1 A G 2: 157,660,036 (GRCm39) probably benign Het
Frrs1 C A 3: 116,694,307 (GRCm39) Q76K probably damaging Het
Insyn2a T A 7: 134,519,669 (GRCm39) Q287L probably benign Het
Krt76 T C 15: 101,796,608 (GRCm39) E400G probably damaging Het
Mdm1 A G 10: 117,982,505 (GRCm39) T47A probably damaging Het
Ncf2 A G 1: 152,709,080 (GRCm39) K336R probably benign Het
Ndrg4 C A 8: 96,432,894 (GRCm39) L34I probably damaging Het
Phf20l1 T A 15: 66,469,540 (GRCm39) H148Q possibly damaging Het
Rhobtb1 A G 10: 69,085,528 (GRCm39) H89R probably damaging Het
Sult1e1 T C 5: 87,724,160 (GRCm39) N266D probably damaging Het
Sult2a2 T C 7: 13,472,189 (GRCm39) S129P probably damaging Het
Trank1 A G 9: 111,202,612 (GRCm39) E1659G probably damaging Het
Trpa1 T G 1: 14,952,443 (GRCm39) I863L possibly damaging Het
Vmn1r177 C T 7: 23,565,835 (GRCm39) V14M probably damaging Het
Vmn2r14 A T 5: 109,369,285 (GRCm39) M96K probably benign Het
Zp1 C T 19: 10,896,375 (GRCm39) V117M probably damaging Het
Other mutations in Gja10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Gja10 APN 4 32,601,230 (GRCm39) missense possibly damaging 0.74
IGL01413:Gja10 APN 4 32,602,070 (GRCm39) missense probably damaging 1.00
IGL01720:Gja10 APN 4 32,601,007 (GRCm39) missense probably benign 0.01
IGL02606:Gja10 APN 4 32,601,509 (GRCm39) missense probably benign 0.39
IGL02832:Gja10 APN 4 32,602,147 (GRCm39) missense probably damaging 0.99
R1806:Gja10 UTSW 4 32,601,135 (GRCm39) missense probably benign 0.11
R1893:Gja10 UTSW 4 32,601,541 (GRCm39) missense probably benign 0.39
R1928:Gja10 UTSW 4 32,601,812 (GRCm39) nonsense probably null
R4452:Gja10 UTSW 4 32,601,313 (GRCm39) missense probably benign
R4457:Gja10 UTSW 4 32,601,073 (GRCm39) missense probably benign 0.01
R5428:Gja10 UTSW 4 32,601,169 (GRCm39) missense probably benign 0.41
R6902:Gja10 UTSW 4 32,601,905 (GRCm39) missense probably damaging 1.00
R7126:Gja10 UTSW 4 32,601,014 (GRCm39) missense probably benign 0.00
R7488:Gja10 UTSW 4 32,602,058 (GRCm39) nonsense probably null
R8296:Gja10 UTSW 4 32,601,568 (GRCm39) missense probably benign 0.17
R8305:Gja10 UTSW 4 32,602,441 (GRCm39) start gained probably benign
R8489:Gja10 UTSW 4 32,601,866 (GRCm39) missense probably benign 0.01
R8535:Gja10 UTSW 4 32,602,274 (GRCm39) missense probably damaging 1.00
R8855:Gja10 UTSW 4 32,601,573 (GRCm39) nonsense probably null
R8877:Gja10 UTSW 4 32,602,441 (GRCm39) start gained probably benign
R8898:Gja10 UTSW 4 32,601,058 (GRCm39) missense probably benign 0.03
R9634:Gja10 UTSW 4 32,601,877 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03