Incidental Mutation 'R5255:Gjd4'
ID 399544
Institutional Source Beutler Lab
Gene Symbol Gjd4
Ensembl Gene ENSMUSG00000036855
Gene Name gap junction protein, delta 4
Synonyms connexin 39, Cx39, 9430022F06Rik
MMRRC Submission 042826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5255 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 9278607-9282809 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9280613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 155 (H155R)
Ref Sequence ENSEMBL: ENSMUSP00000035472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041007]
AlphaFold Q8BSD4
Predicted Effect probably benign
Transcript: ENSMUST00000041007
AA Change: H155R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000035472
Gene: ENSMUSG00000036855
AA Change: H155R

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A T 17: 36,270,629 (GRCm39) probably null Het
Abr T A 11: 76,346,509 (GRCm39) E434V probably damaging Het
Acaca T A 11: 84,202,133 (GRCm39) L197Q probably damaging Het
Acot10 A G 15: 20,666,018 (GRCm39) I241T probably benign Het
Acp6 T C 3: 97,075,312 (GRCm39) V182A probably benign Het
Ahnak2 G A 12: 112,739,812 (GRCm39) T1420I possibly damaging Het
Akr1c6 A T 13: 4,497,018 (GRCm39) K153N probably benign Het
Ank3 T C 10: 69,721,030 (GRCm39) L600P probably damaging Het
Arhgef1 G A 7: 24,624,447 (GRCm39) A824T probably damaging Het
B230307C23Rik T A 16: 97,809,891 (GRCm39) N22K possibly damaging Het
Btn1a1 A G 13: 23,648,324 (GRCm39) probably benign Het
Cenpf G A 1: 189,404,824 (GRCm39) T352I possibly damaging Het
Ces4a C A 8: 105,869,121 (GRCm39) F185L probably benign Het
Clybl A C 14: 122,621,691 (GRCm39) E293A probably benign Het
Cobl A G 11: 12,325,825 (GRCm39) W217R probably damaging Het
D430041D05Rik T C 2: 104,086,945 (GRCm39) N677S probably benign Het
Ddx51 C A 5: 110,803,908 (GRCm39) T390N possibly damaging Het
Drd5 T G 5: 38,477,310 (GRCm39) V101G probably damaging Het
Elmo3 C T 8: 106,033,985 (GRCm39) P244L probably benign Het
Esrrg G A 1: 187,878,555 (GRCm39) R189H probably damaging Het
Fxr2 A G 11: 69,534,667 (GRCm39) T183A probably benign Het
Hivep2 T A 10: 14,007,011 (GRCm39) probably null Het
Ints10 T C 8: 69,246,624 (GRCm39) probably benign Het
Kank4 T C 4: 98,667,209 (GRCm39) T413A probably benign Het
Mapkbp1 T C 2: 119,847,735 (GRCm39) V568A probably damaging Het
Mobp A G 9: 119,997,419 (GRCm39) probably benign Het
Mpst A G 15: 78,294,708 (GRCm39) S147G probably benign Het
Myo5b A T 18: 74,795,741 (GRCm39) Y559F possibly damaging Het
Nceh1 T C 3: 27,237,288 (GRCm39) I21T probably damaging Het
Or4f7 T C 2: 111,644,523 (GRCm39) K183E probably benign Het
Phf8-ps A T 17: 33,285,739 (GRCm39) C354* probably null Het
Ralgps1 A T 2: 33,166,171 (GRCm39) V126E probably damaging Het
Rnls A G 19: 33,359,823 (GRCm39) V115A probably damaging Het
Scn1a A T 2: 66,108,013 (GRCm39) V1554D probably damaging Het
Slc16a11 T A 11: 70,106,258 (GRCm39) D165E probably damaging Het
Slc16a5 A G 11: 115,353,501 (GRCm39) T23A probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc3a1 A T 17: 85,335,881 (GRCm39) probably null Het
Slitrk6 A T 14: 110,987,185 (GRCm39) *841K probably null Het
Syngr1 A G 15: 79,975,647 (GRCm39) Y18C possibly damaging Het
Tarbp1 T G 8: 127,155,709 (GRCm39) D1343A probably benign Het
Vac14 T A 8: 111,360,961 (GRCm39) I177N probably damaging Het
Vmn1r218 A T 13: 23,320,881 (GRCm39) D76V possibly damaging Het
Wdr75 T A 1: 45,838,277 (GRCm39) I62N probably damaging Het
Zfp12 A T 5: 143,226,134 (GRCm39) I68L probably null Het
Zswim8 T A 14: 20,771,719 (GRCm39) Y1551N probably damaging 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
R3031: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
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'- AGGTGCAGGTACTTCACAGAC -3'
(R):5'- GGTCTTTGGCACTTACACCC -3'

Sequencing Primer
(F):5'- CAGGTACTTCACAGACTGGTCTAG -3'
(R):5'- TTGGCACTTACACCCTACACCG -3'
Posted On 2016-07-06