Incidental Mutation 'R1712:Gjd3'
ID 190697
Institutional Source Beutler Lab
Gene Symbol Gjd3
Ensembl Gene ENSMUSG00000047197
Gene Name gap junction protein, delta 3
Synonyms Gja11, connexin 30.2, cx30.2, connexin-30.2, Gjc1
MMRRC Submission 039745-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R1712 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98873006-98873842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102691706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 99 (I99T)
Ref Sequence ENSEMBL: ENSMUSP00000102690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068933] [ENSMUST00000092567] [ENSMUST00000107075]
AlphaFold Q91YD1
Predicted Effect possibly damaging
Transcript: ENSMUST00000068933
AA Change: I99T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: I99T

DomainStartEndE-ValueType
CNX 42 75 1.57e-17 SMART
low complexity region 128 137 N/A INTRINSIC
low complexity region 147 161 N/A INTRINSIC
Connexin_CCC 187 253 3.44e-41 SMART
coiled coil region 333 358 N/A INTRINSIC
low complexity region 368 393 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000092567
AA Change: I99T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: I99T

DomainStartEndE-ValueType
CNX 42 75 1.57e-17 SMART
low complexity region 128 137 N/A INTRINSIC
low complexity region 147 161 N/A INTRINSIC
Connexin_CCC 187 253 3.44e-41 SMART
coiled coil region 333 358 N/A INTRINSIC
low complexity region 368 393 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107075
AA Change: I99T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: I99T

DomainStartEndE-ValueType
CNX 42 75 1.57e-17 SMART
low complexity region 128 137 N/A INTRINSIC
low complexity region 147 161 N/A INTRINSIC
Connexin_CCC 187 253 3.44e-41 SMART
coiled coil region 333 358 N/A INTRINSIC
low complexity region 368 393 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155089
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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 large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated atrioventricular nodal conduction velocity in the heart but no significant alterations in excitability or fast network oscillations in the hippocampus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,678,448 (GRCm39) E12D probably damaging Het
Ahnak2 C A 12: 112,748,998 (GRCm39) R283L probably benign Het
BC005624 T C 2: 30,864,020 (GRCm39) E191G probably damaging Het
C1galt1 A G 6: 7,871,217 (GRCm39) N351S probably benign Het
Ccdc162 T C 10: 41,415,427 (GRCm39) R2179G probably benign Het
Ccdc88c G A 12: 100,905,284 (GRCm39) T1108M probably benign Het
Cd47 T C 16: 49,714,543 (GRCm39) L184P probably damaging Het
Cdc40 T C 10: 40,717,372 (GRCm39) K440E probably damaging Het
Cenpe G A 3: 134,971,694 (GRCm39) V2262I probably damaging Het
Cep290 A G 10: 100,390,361 (GRCm39) K2035E probably benign Het
Cks1brt G T 8: 85,898,172 (GRCm39) L8F probably benign Het
Col17a1 T C 19: 47,637,442 (GRCm39) probably benign Het
Coro6 A T 11: 77,360,293 (GRCm39) N421I probably benign Het
Cps1 T C 1: 67,269,440 (GRCm39) S1480P probably damaging Het
Csrnp3 G T 2: 65,832,826 (GRCm39) A110S probably damaging Het
Cyp2d10 G T 15: 82,287,240 (GRCm39) T461K probably damaging Het
Dmxl2 A G 9: 54,308,769 (GRCm39) V1994A probably benign Het
Dnah11 T A 12: 118,160,379 (GRCm39) N117I probably benign Het
Dnajc3 A G 14: 119,195,307 (GRCm39) Y74C probably damaging Het
Fam13c T A 10: 70,390,403 (GRCm39) F555I possibly damaging Het
Fbn1 T A 2: 125,188,354 (GRCm39) D1495V probably damaging Het
Fbrsl1 T C 5: 110,595,862 (GRCm39) T58A probably benign Het
Glce T C 9: 61,977,857 (GRCm39) N9S probably damaging Het
Gosr1 T C 11: 76,641,704 (GRCm39) T125A possibly damaging Het
Ifi27l2a T A 12: 103,406,202 (GRCm39) probably null Het
Jph1 C T 1: 17,167,456 (GRCm39) D125N possibly damaging Het
Kbtbd12 A T 6: 88,595,676 (GRCm39) S51R probably damaging Het
Klra9 A T 6: 130,166,659 (GRCm39) probably null Het
Kmo A T 1: 175,484,289 (GRCm39) M340L probably benign Het
Lama1 T C 17: 68,024,181 (GRCm39) I93T possibly damaging Het
Limk2 A T 11: 3,308,104 (GRCm39) probably null Het
Mgat5 C A 1: 127,248,375 (GRCm39) N92K probably benign Het
Mib2 T A 4: 155,739,256 (GRCm39) I908F probably damaging Het
Mical1 T G 10: 41,356,359 (GRCm39) L304R probably damaging Het
Mtbp G T 15: 55,434,690 (GRCm39) probably null Het
Myo3a T C 2: 22,455,004 (GRCm39) Y70H probably damaging Het
Neb T C 2: 52,133,401 (GRCm39) Y3379C probably damaging Het
Neurod2 G T 11: 98,218,029 (GRCm39) N378K probably damaging Het
Oog4 G A 4: 143,166,484 (GRCm39) L107F probably damaging Het
Or2g25 A G 17: 37,970,799 (GRCm39) S142P probably benign Het
Or4k40 T A 2: 111,251,003 (GRCm39) M98L probably benign Het
Or6x1 A G 9: 40,099,161 (GRCm39) Y250C probably damaging Het
Or8k20 T A 2: 86,106,337 (GRCm39) T165S probably damaging Het
Pfdn6 T C 17: 34,158,528 (GRCm39) Y82C probably damaging Het
Pla2g4d C A 2: 120,107,971 (GRCm39) A313S possibly damaging Het
Ptcd3 C A 6: 71,885,637 (GRCm39) E30* probably null Het
Rai1 A G 11: 60,078,428 (GRCm39) T831A probably benign Het
Rims1 G A 1: 22,367,172 (GRCm39) T1176M probably damaging Het
Rin1 A C 19: 5,105,171 (GRCm39) I744L probably benign Het
Rora T A 9: 69,282,771 (GRCm39) S430T probably benign Het
Rsph10b T A 5: 143,873,967 (GRCm39) S23T probably damaging Het
Ryr1 T C 7: 28,746,928 (GRCm39) N3773S probably benign Het
Scn4a A G 11: 106,230,180 (GRCm39) Y543H probably damaging Het
Scn4a C A 11: 106,236,373 (GRCm39) G296C probably benign Het
Scn7a T C 2: 66,535,447 (GRCm39) T435A probably benign Het
Shank2 G T 7: 143,964,890 (GRCm39) D833Y probably damaging Het
Slc9a2 T C 1: 40,802,770 (GRCm39) S607P possibly damaging Het
Slx4 G A 16: 3,809,458 (GRCm39) R346W probably damaging Het
Spata20 A T 11: 94,371,340 (GRCm39) C675S probably benign Het
Suclg2 A T 6: 95,563,997 (GRCm39) I196N probably damaging Het
Sv2b G A 7: 74,798,807 (GRCm39) H272Y possibly damaging Het
Svep1 T C 4: 58,070,629 (GRCm39) I2386V probably benign Het
Taf13 A T 3: 108,488,445 (GRCm39) E109D possibly damaging Het
Tanc2 A G 11: 105,790,606 (GRCm39) T976A probably benign Het
Tax1bp1 A G 6: 52,706,311 (GRCm39) Y104C probably damaging Het
Tfeb T C 17: 48,099,911 (GRCm39) probably null Het
Tlr9 T C 9: 106,101,248 (GRCm39) Y180H probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttc12 T A 9: 49,356,499 (GRCm39) T510S probably benign Het
Ubqln1 T C 13: 58,339,895 (GRCm39) E280G probably damaging Het
Urm1 T C 2: 29,731,437 (GRCm39) W44R probably damaging Het
Usp32 A T 11: 84,933,406 (GRCm39) I34N probably benign Het
Vars1 T C 17: 35,233,728 (GRCm39) L1018P probably damaging Het
Vcan A T 13: 89,869,894 (GRCm39) V206D probably damaging Het
Vim T C 2: 13,583,270 (GRCm39) V224A probably damaging Het
Vmn2r106 G T 17: 20,498,997 (GRCm39) H305N probably benign Het
Vmn2r78 A G 7: 86,604,132 (GRCm39) N770S probably damaging Het
Wdr33 T A 18: 32,029,684 (GRCm39) L961Q unknown Het
Xylt2 A G 11: 94,559,575 (GRCm39) S356P possibly damaging Het
Zbtb14 A G 17: 69,694,575 (GRCm39) N91S probably damaging Het
Zc3h6 T C 2: 128,858,654 (GRCm39) L895S probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfp131 T C 13: 120,228,079 (GRCm39) T523A probably benign Het
Other mutations in Gjd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Gjd3 APN 11 102,691,552 (GRCm39) missense probably benign 0.16
IGL02083:Gjd3 APN 11 98,873,587 (GRCm39) missense probably damaging 1.00
IGL03164:Gjd3 APN 11 102,691,547 (GRCm39) missense possibly damaging 0.81
IGL03396:Gjd3 APN 11 102,691,353 (GRCm39) missense probably benign 0.00
PIT4812001:Gjd3 UTSW 11 102,691,807 (GRCm39) nonsense probably null
R0683:Gjd3 UTSW 11 102,691,237 (GRCm39) missense probably benign 0.00
R1642:Gjd3 UTSW 11 98,873,535 (GRCm39) missense probably benign 0.01
R2267:Gjd3 UTSW 11 98,873,227 (GRCm39) missense probably damaging 0.98
R3853:Gjd3 UTSW 11 102,690,952 (GRCm39) missense probably benign 0.10
R4397:Gjd3 UTSW 11 98,873,247 (GRCm39) missense probably damaging 1.00
R4948:Gjd3 UTSW 11 102,691,247 (GRCm39) missense probably damaging 1.00
R5564:Gjd3 UTSW 11 102,691,029 (GRCm39) missense probably benign 0.04
R5811:Gjd3 UTSW 11 98,873,226 (GRCm39) missense possibly damaging 0.94
R6577:Gjd3 UTSW 11 102,691,130 (GRCm39) missense possibly damaging 0.69
R6939:Gjd3 UTSW 11 102,691,733 (GRCm39) missense probably damaging 0.98
R7263:Gjd3 UTSW 11 102,690,963 (GRCm39) missense possibly damaging 0.69
R7352:Gjd3 UTSW 11 102,691,278 (GRCm39) missense probably damaging 1.00
R7578:Gjd3 UTSW 11 98,873,301 (GRCm39) missense probably damaging 0.99
R7657:Gjd3 UTSW 11 98,873,586 (GRCm39) nonsense probably null
R7900:Gjd3 UTSW 11 102,690,920 (GRCm39) missense probably benign 0.00
R8187:Gjd3 UTSW 11 102,691,381 (GRCm39) nonsense probably null
R8544:Gjd3 UTSW 11 98,873,488 (GRCm39) nonsense probably null
R8704:Gjd3 UTSW 11 98,873,445 (GRCm39) missense probably damaging 1.00
R8778:Gjd3 UTSW 11 98,873,842 (GRCm39) start codon destroyed probably null 0.99
R8883:Gjd3 UTSW 11 102,691,769 (GRCm39) missense probably damaging 0.98
R8924:Gjd3 UTSW 11 98,873,325 (GRCm39) missense probably damaging 1.00
Z1176:Gjd3 UTSW 11 102,690,834 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AATTCGTCGTCGGCCATCATGC -3'
(R):5'- AACTGCTGTAGGAGGAGAGTCCATC -3'

Sequencing Primer
(F):5'- CGGCCATCATGCTTAGGTTTTG -3'
(R):5'- GGAGAGTCCATCTACTATGATGAAC -3'
Posted On 2014-05-14