Incidental Mutation 'R4452:Gja10'
ID 328998
Institutional Source Beutler Lab
Gene Symbol Gja10
Ensembl Gene ENSMUSG00000051056
Gene Name gap junction protein, alpha 10
Synonyms Cx59, Cx57, Cx-57, connexin-57
MMRRC Submission 041713-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4452 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 32596960-32602760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32601313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 357 (V357A)
Ref Sequence ENSEMBL: ENSMUSP00000151323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056517] [ENSMUST00000219644]
AlphaFold Q9WUS4
Predicted Effect probably benign
Transcript: ENSMUST00000056517
AA Change: V357A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061742
Gene: ENSMUSG00000051056
AA Change: V357A

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 benign
Transcript: ENSMUST00000219644
AA Change: V357A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,297,797 (GRCm39) T145A possibly damaging Het
Adgra1 G T 7: 139,432,437 (GRCm39) A92S probably benign Het
Aim2 A G 1: 173,283,010 (GRCm39) T31A possibly damaging Het
Cd46 G A 1: 194,767,668 (GRCm39) A131V possibly damaging Het
Cdc27 A T 11: 104,408,221 (GRCm39) M563K probably benign Het
Chd9 A T 8: 91,704,308 (GRCm39) N721I probably damaging Het
Cnn2 A G 10: 79,827,276 (GRCm39) D49G probably benign Het
Cul1 T A 6: 47,485,923 (GRCm39) Y323* probably null Het
D5Ertd579e A G 5: 36,773,814 (GRCm39) W194R probably damaging Het
Dhx15 G A 5: 52,324,074 (GRCm39) P406L probably benign Het
Dnah9 C T 11: 65,917,908 (GRCm39) A2249T probably damaging Het
Dppa4 T A 16: 48,109,699 (GRCm39) D106E probably benign Het
Gm20481 T G 17: 35,191,109 (GRCm39) probably benign Het
Grxcr2 T C 18: 42,119,609 (GRCm39) N244D probably damaging Het
Klk1b11 T A 7: 43,645,335 (GRCm39) F3I probably damaging Het
Mid1 T C X: 168,710,421 (GRCm39) V139A possibly damaging Het
Mycbp2 T C 14: 103,393,094 (GRCm39) K3046E probably damaging Het
Nfasc T C 1: 132,562,409 (GRCm39) N122S probably damaging Het
Or11j4 A T 14: 50,630,369 (GRCm39) Y52F probably benign Het
Or4c124 T A 2: 89,155,597 (GRCm39) D309V possibly damaging Het
Or52ac1 T A 7: 104,245,846 (GRCm39) M181L probably damaging Het
Or52i2 T C 7: 102,319,256 (GRCm39) V43A probably benign Het
Or8d1b T C 9: 38,887,382 (GRCm39) S137P probably benign Het
Or8h9 C T 2: 86,789,043 (GRCm39) G253D probably damaging Het
P2ry10b C T X: 106,214,724 (GRCm39) T28I probably damaging Het
Pdxdc1 T C 16: 13,654,990 (GRCm39) Y675C possibly damaging Het
Plcl1 A G 1: 55,736,045 (GRCm39) N462S probably benign Het
Ptf1a G T 2: 19,451,092 (GRCm39) A141S possibly damaging Het
Pzp A G 6: 128,468,203 (GRCm39) L1028P probably damaging Het
Qrsl1 A G 10: 43,758,158 (GRCm39) S312P probably damaging Het
Sars2 A G 7: 28,449,518 (GRCm39) T349A probably benign Het
Scarb1 A T 5: 125,377,409 (GRCm39) F208I probably damaging Het
Scn8a A G 15: 100,854,972 (GRCm39) N153S possibly damaging Het
Sema4c A T 1: 36,592,837 (GRCm39) V127D probably benign Het
Smg6 C G 11: 74,880,967 (GRCm39) S931C probably benign Het
Trpm2 A T 10: 77,759,427 (GRCm39) L1119Q probably damaging Het
Ubtd2 T A 11: 32,449,406 (GRCm39) N84K probably damaging Het
Ugt2b35 A T 5: 87,151,237 (GRCm39) H281L probably damaging Het
Umodl1 T C 17: 31,213,789 (GRCm39) probably null 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
IGL01504:Gja10 APN 4 32,602,375 (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
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
Predicted Primers PCR Primer
(F):5'- TGGGCCTAATCTGTCTGTCC -3'
(R):5'- AGTCATCCGAGTCAATATACCACG -3'

Sequencing Primer
(F):5'- GGCCTAATCTGTCTGTCCAAACC -3'
(R):5'- TACCACGGTCTAAAAGCATGTG -3'
Posted On 2015-07-21