Incidental Mutation 'R6120:Gja1'
ID 485720
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 044268-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6120 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 56253297-56266519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56264601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 320 (M320K)
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: M320K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000064536
Gene: ENSMUSG00000050953
AA Change: M320K

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: M320K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000220194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220204
Meta Mutation Damage Score 0.0736 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.6%
Validation Efficiency 98% (55/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,638,795 (GRCm39) V398E possibly damaging Het
Ankef1 A G 2: 136,392,296 (GRCm39) N495S probably benign Het
Bpifb3 G T 2: 153,773,363 (GRCm39) V428L probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,230,785 (GRCm39) L362S probably benign Het
Ccdc33 G A 9: 57,993,883 (GRCm39) P88S probably damaging Het
Cdk14 A T 5: 4,944,029 (GRCm39) D385E probably damaging Het
Chrna4 A G 2: 180,666,599 (GRCm39) L613P probably damaging Het
Cnot3 T A 7: 3,648,335 (GRCm39) probably null Het
Csf1 T A 3: 107,661,170 (GRCm39) I116L probably damaging Het
Csrp2 G T 10: 110,775,140 (GRCm39) A192S probably benign Het
Dnah9 T C 11: 66,038,225 (GRCm39) T104A probably benign Het
Eml1 C T 12: 108,493,983 (GRCm39) P593S probably damaging Het
Entpd2 T A 2: 25,289,478 (GRCm39) I320N probably benign Het
Exosc9 A T 3: 36,608,821 (GRCm39) N140I probably damaging Het
Fam186a T C 15: 99,838,244 (GRCm39) T2667A probably benign Het
Fes T C 7: 80,030,615 (GRCm39) D558G probably damaging Het
Fgfr2 G T 7: 129,830,420 (GRCm39) T186K probably benign Het
Fnip1 A G 11: 54,400,826 (GRCm39) E1075G probably benign Het
Gbf1 A G 19: 46,267,760 (GRCm39) I1203V possibly damaging Het
Gm5431 A G 11: 48,785,608 (GRCm39) Y256H probably benign Het
Gpr20 C T 15: 73,567,853 (GRCm39) V179M probably damaging Het
Greb1 T G 12: 16,758,622 (GRCm39) D698A probably damaging Het
Hook2 A G 8: 85,724,754 (GRCm39) E500G probably damaging Het
Kif13b A T 14: 64,989,007 (GRCm39) N796I probably damaging Het
Kif1a C T 1: 92,952,296 (GRCm39) probably null Het
Lama1 T C 17: 68,087,612 (GRCm39) probably null Het
Mfsd1 C T 3: 67,501,718 (GRCm39) Q246* probably null Het
Mkrn3 A G 7: 62,069,282 (GRCm39) S170P probably benign Het
Ms4a6b A G 19: 11,499,059 (GRCm39) M58V probably benign Het
Muc4 T C 16: 32,577,169 (GRCm39) V2223A unknown Het
Mycbp2 A T 14: 103,513,323 (GRCm39) V811D probably benign Het
Or5p59 A T 7: 107,703,340 (GRCm39) N275Y probably damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Or9g4b T C 2: 85,616,685 (GRCm39) F277L probably damaging Het
Pcsk2 A G 2: 143,643,031 (GRCm39) E436G probably damaging Het
Pet100 T G 8: 3,671,764 (GRCm39) probably null Het
Pira2 A G 7: 3,844,553 (GRCm39) Y493H probably damaging Het
Prkdc C A 16: 15,557,335 (GRCm39) R2213S probably benign Het
Prmt2 A G 10: 76,045,280 (GRCm39) I342T possibly damaging Het
Psmc6 A G 14: 45,586,130 (GRCm39) E381G possibly damaging Het
Rrm1 G A 7: 102,110,063 (GRCm39) probably null Het
Sema3c A G 5: 17,932,630 (GRCm39) D711G probably benign Het
Sgcb T C 5: 73,798,153 (GRCm39) E103G possibly damaging Het
Sh3pxd2a A G 19: 47,255,848 (GRCm39) S957P probably damaging Het
Slc26a2 A G 18: 61,332,489 (GRCm39) V314A possibly damaging Het
Smarca5 G T 8: 81,438,372 (GRCm39) H655N probably damaging Het
Sspo T A 6: 48,442,510 (GRCm39) S2002T probably damaging Het
Sync T C 4: 129,187,544 (GRCm39) L192P probably damaging Het
Ush2a T C 1: 188,090,800 (GRCm39) M477T probably benign Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Vcam1 A G 3: 115,918,049 (GRCm39) V304A probably damaging Het
Vmn2r115 T A 17: 23,565,003 (GRCm39) W297R probably damaging Het
Vmn2r120 T A 17: 57,832,973 (GRCm39) M69L probably benign Het
Wdr11 A G 7: 129,226,515 (GRCm39) D771G probably damaging 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
R6192:Gja1 UTSW 10 56,264,330 (GRCm39) missense probably damaging 1.00
R7057:Gja1 UTSW 10 56,264,129 (GRCm39) missense probably benign 0.30
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'- CTGCGGATCTCCAAAATATGC -3'
(R):5'- CGATTGGCAGCTTGATGTTC -3'

Sequencing Primer
(F):5'- GCGGATCTCCAAAATATGCTTACTTC -3'
(R):5'- GTTTAAATCTCCAGGTCATCAGGC -3'
Posted On 2017-08-16