Incidental Mutation 'R3031:Gjd4'
ID 264741
Institutional Source Beutler Lab
Gene Symbol Gjd4
Ensembl Gene ENSMUSG00000036855
Gene Name gap junction protein, delta 4
Synonyms connexin 39, Cx39, 9430022F06Rik
MMRRC Submission 040547-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3031 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 9278607-9282809 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 9280811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 89 (S89*)
Ref Sequence ENSEMBL: ENSMUSP00000035472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041007]
AlphaFold Q8BSD4
Predicted Effect probably null
Transcript: ENSMUST00000041007
AA Change: S89*
SMART Domains Protein: ENSMUSP00000035472
Gene: ENSMUSG00000036855
AA Change: S89*

DomainStartEndE-ValueType
low complexity region 26 39 N/A INTRINSIC
CNX 43 76 4.18e-13 SMART
Connexin_CCC 131 197 1.23e-28 SMART
low complexity region 237 251 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Connexins, such as GJD4, 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: Mice homozygous for a knock-out allele exhibit accelerated muscle regeneration following BaCl2 injection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,193,863 (GRCm39) V753L probably damaging Het
Ap3b1 T C 13: 94,702,151 (GRCm39) L1068P unknown Het
Cacna1h C A 17: 25,652,108 (GRCm39) R12L probably damaging Het
Cbln4 A G 2: 171,884,100 (GRCm39) V40A probably damaging Het
Ccdc170 T C 10: 4,468,931 (GRCm39) S160P probably damaging Het
Cdc37 T C 9: 21,054,487 (GRCm39) E46G possibly damaging Het
Cltc T C 11: 86,621,158 (GRCm39) H287R probably damaging Het
Dsg1a A T 18: 20,473,549 (GRCm39) D874V probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Hydin A G 8: 111,329,848 (GRCm39) R4861G possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lipe T C 7: 25,084,320 (GRCm39) E588G possibly damaging Het
Mael T C 1: 166,032,375 (GRCm39) D328G probably damaging Het
Mboat7 A G 7: 3,681,687 (GRCm39) V398A probably benign Het
Slc35e1 A G 8: 73,238,735 (GRCm39) W258R probably benign Het
Slc9a8 A G 2: 167,293,201 (GRCm39) D183G probably damaging Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Sult3a1 G A 10: 33,753,345 (GRCm39) D214N possibly damaging Het
Traf3ip1 T C 1: 91,447,822 (GRCm39) V433A probably damaging Het
Ubxn7 T A 16: 32,194,125 (GRCm39) D232E probably benign Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vps13c T C 9: 67,831,052 (GRCm39) S1561P probably benign Het
Wdr48 T C 9: 119,753,176 (GRCm39) V593A probably benign Het
Zfp58 A G 13: 67,640,231 (GRCm39) F87L probably benign Het
Zfp663 A T 2: 165,195,616 (GRCm39) L201* probably null Het
Other mutations in Gjd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0046:Gjd4 UTSW 18 9,280,998 (GRCm39) missense probably damaging 0.98
R0046:Gjd4 UTSW 18 9,280,998 (GRCm39) missense probably damaging 0.98
R0157:Gjd4 UTSW 18 9,280,549 (GRCm39) missense probably benign 0.00
R0348:Gjd4 UTSW 18 9,280,964 (GRCm39) missense possibly damaging 0.77
R0538:Gjd4 UTSW 18 9,280,244 (GRCm39) missense probably benign 0.00
R1536:Gjd4 UTSW 18 9,280,569 (GRCm39) missense probably damaging 1.00
R2423:Gjd4 UTSW 18 9,280,811 (GRCm39) nonsense probably null
R2425:Gjd4 UTSW 18 9,280,811 (GRCm39) nonsense probably null
R3508:Gjd4 UTSW 18 9,280,811 (GRCm39) nonsense probably null
R4154:Gjd4 UTSW 18 9,280,811 (GRCm39) nonsense probably null
R4675:Gjd4 UTSW 18 9,280,578 (GRCm39) missense probably damaging 1.00
R5255:Gjd4 UTSW 18 9,280,613 (GRCm39) missense probably benign 0.00
R6452:Gjd4 UTSW 18 9,280,457 (GRCm39) missense possibly damaging 0.91
R7002:Gjd4 UTSW 18 9,280,960 (GRCm39) missense possibly damaging 0.88
R7077:Gjd4 UTSW 18 9,280,928 (GRCm39) missense probably damaging 1.00
R7232:Gjd4 UTSW 18 9,280,380 (GRCm39) missense probably damaging 1.00
R7250:Gjd4 UTSW 18 9,280,391 (GRCm39) missense probably benign 0.03
R7355:Gjd4 UTSW 18 9,280,860 (GRCm39) missense probably damaging 1.00
R8398:Gjd4 UTSW 18 9,280,326 (GRCm39) missense possibly damaging 0.51
R9147:Gjd4 UTSW 18 9,280,095 (GRCm39) missense probably benign 0.01
R9148:Gjd4 UTSW 18 9,280,095 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTACATGCGAGCAAGACACG -3'
(R):5'- TCTGTCCTAGGCATGATCTGG -3'

Sequencing Primer
(F):5'- GAGCAAGACACGCGGGC -3'
(R):5'- ATCTGGCTGATCGTGGAGGTC -3'
Posted On 2015-02-05