Incidental Mutation 'R5061:Gja1'
ID 386626
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 042651-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5061 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 56253297-56266519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56263752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 37 (L37Q)
Ref Sequence ENSEMBL: ENSMUSP00000151620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068581] [ENSMUST00000217789] [ENSMUST00000218444] [ENSMUST00000218834] [ENSMUST00000220069] [ENSMUST00000220194]
AlphaFold P23242
Predicted Effect probably damaging
Transcript: ENSMUST00000068581
AA Change: L37Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064536
Gene: ENSMUSG00000050953
AA Change: L37Q

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 damaging
Transcript: ENSMUST00000218444
AA Change: L37Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218834
Predicted Effect probably damaging
Transcript: ENSMUST00000220069
AA Change: L37Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000220194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220204
Meta Mutation Damage Score 0.9610 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,450,953 (GRCm39) H53R probably benign Het
Abcg1 A G 17: 31,311,366 (GRCm39) K124E probably damaging Het
Acot4 G T 12: 84,085,475 (GRCm39) R64L probably benign Het
Adam22 G C 5: 8,230,238 (GRCm39) probably benign Het
Add2 G A 6: 86,064,029 (GRCm39) probably null Het
Adgrb3 G A 1: 25,107,209 (GRCm39) probably benign Het
Akap8l T G 17: 32,551,868 (GRCm39) K441T probably damaging Het
Aspn T A 13: 49,720,080 (GRCm39) S365R probably damaging Het
Atxn1 T G 13: 45,710,569 (GRCm39) K788Q probably damaging Het
Atxn2l G T 7: 126,099,375 (GRCm39) H135N probably damaging Het
Borcs8 T G 8: 70,593,008 (GRCm39) probably null Het
Col5a1 G A 2: 27,842,390 (GRCm39) D422N unknown Het
Cstad A T 2: 30,498,275 (GRCm39) T37S unknown Het
Dgkq A T 5: 108,801,989 (GRCm39) D455E probably benign Het
Dop1a T C 9: 86,385,161 (GRCm39) probably benign Het
Ebf3 T C 7: 136,915,288 (GRCm39) I84V possibly damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Eif3e A T 15: 43,115,657 (GRCm39) W370R probably damaging Het
Eya3 T A 4: 132,431,689 (GRCm39) D323E probably damaging Het
F5 T C 1: 164,021,749 (GRCm39) L1408P probably benign Het
Fam110d T C 4: 133,979,041 (GRCm39) T146A probably benign Het
Gfod1 C T 13: 43,353,992 (GRCm39) G328S probably benign Het
Gm10650 T A 3: 127,833,666 (GRCm39) noncoding transcript Het
Gm14226 T A 2: 154,867,106 (GRCm39) H354Q probably benign Het
Gm15056 T C 8: 21,390,758 (GRCm39) T60A probably benign Het
Hsd11b1 A T 1: 192,924,553 (GRCm39) N6K probably benign Het
Ighv1-36 T C 12: 114,843,742 (GRCm39) I39M probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kdm7a G A 6: 39,128,386 (GRCm39) P482S possibly damaging Het
Lama5 C A 2: 179,840,579 (GRCm39) E607* probably null Het
Lao1 T A 4: 118,824,673 (GRCm39) S252T probably benign Het
Lrp12 A G 15: 39,741,650 (GRCm39) F355S probably damaging Het
Mlycd T C 8: 120,137,043 (GRCm39) F421S probably damaging Het
Nectin3 T C 16: 46,268,812 (GRCm39) E530G probably benign Het
Nifk T C 1: 118,260,669 (GRCm39) *270R probably null Het
Ocln T C 13: 100,676,106 (GRCm39) Y129C probably damaging Het
Or10ag60 C T 2: 87,438,176 (GRCm39) T148I probably benign Het
Or4f54 T A 2: 111,122,832 (GRCm39) L73H probably damaging Het
Or52l1 T A 7: 104,829,864 (GRCm39) I219F possibly damaging Het
Or5b117 A T 19: 13,431,349 (GRCm39) C177* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb22 G T 18: 37,652,179 (GRCm39) G216C probably damaging Het
Ppcs T C 4: 119,276,412 (GRCm39) K58E probably damaging Het
Prss38 T C 11: 59,265,196 (GRCm39) T123A probably damaging Het
Rap1gap T A 4: 137,447,744 (GRCm39) probably null Het
Rbm18 A G 2: 36,017,217 (GRCm39) F54L possibly damaging Het
Rwdd3 G A 3: 120,953,432 (GRCm39) probably benign Het
Ryr2 T C 13: 11,650,422 (GRCm39) K138E possibly damaging Het
Sec24a T C 11: 51,604,359 (GRCm39) probably null Het
Serpinb10 A G 1: 107,468,701 (GRCm39) T115A probably benign Het
Slco1a8 T A 6: 141,954,414 (GRCm39) M20L probably benign Het
Slx4ip T G 2: 136,885,930 (GRCm39) F83L probably damaging Het
St3gal1 A T 15: 66,980,078 (GRCm39) S274T probably benign Het
Stab1 A C 14: 30,885,056 (GRCm39) C121W probably damaging Het
Stab2 A G 10: 86,743,249 (GRCm39) L1149P probably damaging Het
Svil T G 18: 5,048,954 (GRCm39) I77R probably benign Het
Tbk1 T G 10: 121,412,241 (GRCm39) E47A possibly damaging Het
Tert C T 13: 73,782,397 (GRCm39) T557I probably damaging Het
Tfap2c A G 2: 172,393,947 (GRCm39) D252G probably damaging Het
Tll1 C A 8: 64,506,983 (GRCm39) C586F probably damaging Het
Tln2 T G 9: 67,261,750 (GRCm39) N663T probably benign Het
Tmem245 T A 4: 56,946,945 (GRCm39) Y156F possibly damaging Het
Uhrf1 G T 17: 56,627,542 (GRCm39) probably null Het
Unc79 T A 12: 103,134,700 (GRCm39) M2417K possibly damaging Het
Ush2a T C 1: 188,689,471 (GRCm39) V5011A probably benign Het
Virma T C 4: 11,494,840 (GRCm39) V47A possibly damaging Het
Vmn2r53 A C 7: 12,315,741 (GRCm39) S693A probably benign Het
Vps54 G A 11: 21,269,881 (GRCm39) probably benign Het
Znfx1 T C 2: 166,907,318 (GRCm39) probably benign 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
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
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'- TGAAACTGCCTTATTTTGACTGACC -3'
(R):5'- ACACGTGAGCCAAGTACAGG -3'

Sequencing Primer
(F):5'- TGTGAAACCATCAATTTACAGTCTAC -3'
(R):5'- CCAAGTACAGGAGTGTGGGC -3'
Posted On 2016-06-06