Incidental Mutation 'R7057:Gja1'
ID 547994
Institutional Source Beutler Lab
Gene Symbol Gja1
Ensembl Gene ENSMUSG00000050953
Gene Name gap junction protein, alpha 1
Synonyms Gja-1, Cnx43, Cx43, connexin43, alpha 1 connexin, Cx43alpha1, connexin 43
MMRRC Submission 045154-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7057 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 56253297-56266519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 56264129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 163 (S163A)
Ref Sequence ENSEMBL: ENSMUSP00000151620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068581] [ENSMUST00000217789] [ENSMUST00000218444] [ENSMUST00000218834] [ENSMUST00000220069] [ENSMUST00000220194]
AlphaFold P23242
Predicted Effect probably benign
Transcript: ENSMUST00000068581
AA Change: S163A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000064536
Gene: ENSMUSG00000050953
AA Change: S163A

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 probably benign
Transcript: ENSMUST00000220069
AA Change: S163A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000220194
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,945,181 (GRCm39) V220D probably benign Het
Ankrd1 T C 19: 36,095,633 (GRCm39) E113G possibly damaging Het
Aqp12 T C 1: 92,939,718 (GRCm39) L249P probably damaging Het
Atg4a-ps A G 3: 103,553,296 (GRCm39) F15S possibly damaging Het
Bub1 T A 2: 127,671,447 (GRCm39) M46L probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C2cd4d A G 3: 94,270,800 (GRCm39) H22R probably benign Het
Ccdc157 A G 11: 4,094,586 (GRCm39) V480A probably benign Het
Cdc42ep3 G A 17: 79,642,952 (GRCm39) probably benign Het
Cela1 T A 15: 100,580,774 (GRCm39) T161S possibly damaging Het
Chtf18 G T 17: 25,940,100 (GRCm39) A697E possibly damaging Het
Cr2 T C 1: 194,833,918 (GRCm39) D957G possibly damaging Het
Cyp2c40 A G 19: 39,796,063 (GRCm39) V60A probably damaging Het
Dazl CCATGATGGCGGC CC 17: 50,600,434 (GRCm39) probably null Het
Dock2 A T 11: 34,177,684 (GRCm39) L1824Q probably benign Het
Dock2 T C 11: 34,586,044 (GRCm39) Y546C probably benign Het
Focad G A 4: 88,192,342 (GRCm39) C557Y unknown Het
Ftmt T A 18: 52,465,180 (GRCm39) N165K probably benign Het
Gen1 A C 12: 11,292,419 (GRCm39) S457A probably benign Het
Gm8267 T C 14: 44,959,481 (GRCm39) I194M probably damaging Het
Golga3 T A 5: 110,336,529 (GRCm39) S389R probably damaging Het
Gpc5 C A 14: 115,370,654 (GRCm39) Q87K possibly damaging Het
Hmcn2 G A 2: 31,312,661 (GRCm39) A3420T probably damaging Het
Htt A G 5: 34,979,067 (GRCm39) S817G probably null Het
Hus1b C T 13: 31,131,533 (GRCm39) C42Y possibly damaging Het
Iars2 A G 1: 185,021,564 (GRCm39) F913L probably benign Het
Kcna4 A G 2: 107,125,665 (GRCm39) E133G probably damaging Het
Klhl36 T C 8: 120,603,536 (GRCm39) L597P probably benign Het
Ltv1 T C 10: 13,056,646 (GRCm39) E299G possibly damaging Het
Mmp12 A G 9: 7,357,840 (GRCm39) Y348C probably damaging Het
Mmp12 G A 9: 7,369,173 (GRCm39) V270I probably benign Het
Mmp2 A G 8: 93,558,333 (GRCm39) D134G probably damaging Het
Mrpl15 A T 1: 4,846,865 (GRCm39) M237K probably benign Het
Ms4a6b G T 19: 11,504,253 (GRCm39) V177F possibly damaging Het
Muc16 A G 9: 18,557,375 (GRCm39) S2973P unknown Het
Or1e30 A C 11: 73,677,974 (GRCm39) D70A possibly damaging Het
Or4c114 A C 2: 88,904,808 (GRCm39) I209S possibly damaging Het
Or5b120 G T 19: 13,480,243 (GRCm39) D179Y probably damaging Het
Or5b12b A T 19: 12,862,006 (GRCm39) I254F probably damaging Het
Or8b48 A T 9: 38,493,050 (GRCm39) H159L probably damaging Het
Pikfyve T A 1: 65,286,364 (GRCm39) I1201K probably benign Het
Plekhn1 T G 4: 156,318,374 (GRCm39) M83L probably damaging Het
Pnlip G T 19: 58,664,695 (GRCm39) D212Y probably damaging Het
Pomt2 T C 12: 87,174,152 (GRCm39) N417S probably damaging Het
Pxylp1 T A 9: 96,707,103 (GRCm39) M360L probably benign Het
Rbak G A 5: 143,159,682 (GRCm39) T457I possibly damaging Het
Runx2 A T 17: 45,125,424 (GRCm39) W31R probably null Het
Sec16a T A 2: 26,315,277 (GRCm39) I1795F probably damaging Het
Sik2 A T 9: 50,909,861 (GRCm39) I64N probably damaging Het
Slc26a8 T C 17: 28,857,371 (GRCm39) E924G possibly damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Slc45a4 C A 15: 73,459,487 (GRCm39) D174Y probably damaging Het
Slc6a6 A C 6: 91,718,248 (GRCm39) E354A probably damaging Het
Slc8a1 A T 17: 81,956,524 (GRCm39) S171R probably damaging Het
Srgap1 T C 10: 121,640,858 (GRCm39) I669M probably benign Het
Stk39 C A 2: 68,240,471 (GRCm39) A87S possibly damaging Het
Tasor A T 14: 27,183,608 (GRCm39) N689I probably damaging Het
Tbx18 C A 9: 87,587,317 (GRCm39) S600I possibly damaging Het
Tesc A C 5: 118,193,025 (GRCm39) K114Q probably damaging Het
Tll1 T C 8: 64,554,915 (GRCm39) D256G probably damaging Het
Tmem35b T A 4: 127,021,679 (GRCm39) I45K probably benign Het
Tnks T C 8: 35,307,168 (GRCm39) D1127G probably damaging Het
Trpm8 A T 1: 88,289,802 (GRCm39) D920V probably null Het
U2af1 A T 17: 31,867,831 (GRCm39) D79E probably benign Het
Zfp704 T C 3: 9,535,977 (GRCm39) D331G probably damaging Het
Znrf3 G T 11: 5,232,442 (GRCm39) P261Q probably benign Het
Zscan4b A T 7: 10,635,636 (GRCm39) C202* probably null Het
Other mutations in Gja1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Gja1 APN 10 56,264,418 (GRCm39) missense probably benign 0.03
IGL01660:Gja1 APN 10 56,264,544 (GRCm39) missense probably damaging 1.00
IGL02387:Gja1 APN 10 56,263,902 (GRCm39) missense possibly damaging 0.48
IGL02596:Gja1 APN 10 56,264,348 (GRCm39) missense possibly damaging 0.77
R0607:Gja1 UTSW 10 56,264,166 (GRCm39) missense possibly damaging 0.58
R1386:Gja1 UTSW 10 56,264,065 (GRCm39) missense probably benign 0.01
R4084:Gja1 UTSW 10 56,264,607 (GRCm39) missense possibly damaging 0.70
R4542:Gja1 UTSW 10 56,264,148 (GRCm39) missense probably damaging 1.00
R4601:Gja1 UTSW 10 56,264,325 (GRCm39) missense probably damaging 1.00
R5061:Gja1 UTSW 10 56,263,752 (GRCm39) missense probably damaging 1.00
R5301:Gja1 UTSW 10 56,264,475 (GRCm39) missense probably damaging 0.96
R5740:Gja1 UTSW 10 56,264,285 (GRCm39) missense probably damaging 0.99
R5808:Gja1 UTSW 10 56,264,594 (GRCm39) missense probably benign 0.14
R6120:Gja1 UTSW 10 56,264,601 (GRCm39) missense probably benign 0.00
R6192:Gja1 UTSW 10 56,264,330 (GRCm39) missense probably damaging 1.00
R7227:Gja1 UTSW 10 56,263,752 (GRCm39) missense probably damaging 1.00
R7894:Gja1 UTSW 10 56,264,645 (GRCm39) missense possibly damaging 0.82
R8559:Gja1 UTSW 10 56,264,304 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTGGCTCACGTGTTCTATG -3'
(R):5'- ATGATATTCAGAGCGAGAGACACC -3'

Sequencing Primer
(F):5'- ACGTGTTCTATGTGATGAGAAAGG -3'
(R):5'- GCGAGAGACACCAAGGACAC -3'
Posted On 2019-05-13