Incidental Mutation 'IGL01505:Gjc1'
ID89001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjc1
Ensembl Gene ENSMUSG00000034520
Gene Namegap junction protein, gamma 1
Synonymsconnexin 45, Cx45, Gja7, Gja-7
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01505
Quality Score
Status
Chromosome11
Chromosomal Location102799579-102819700 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102800726 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 150 (K150N)
Ref Sequence ENSEMBL: ENSMUSP00000102690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068933] [ENSMUST00000092567] [ENSMUST00000107075]
Predicted Effect probably benign
Transcript: ENSMUST00000068933
AA Change: K150N

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: K150N

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 probably benign
Transcript: ENSMUST00000092567
AA Change: K150N

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: K150N

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 probably benign
Transcript: ENSMUST00000107075
AA Change: K150N

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: K150N

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
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 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. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired vascular and cardiac development resulting in retarded growth and lethality between embryonic day 9.5 -10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 68,947,347 probably null Het
A2m A G 6: 121,676,947 N1413S possibly damaging Het
Arhgap45 A T 10: 80,026,542 N488Y probably benign Het
Arid4a G A 12: 71,037,115 D94N probably damaging Het
Atp7a A G X: 106,109,830 K1114E probably damaging Het
Atp8a2 C T 14: 60,028,063 V275M probably benign Het
Ceacam12 T C 7: 18,067,432 V112A probably damaging Het
Cep295 T A 9: 15,318,049 D2256V probably benign Het
Chid1 A T 7: 141,513,894 probably null Het
Clcn5 A T X: 7,170,439 L268* probably null Het
Cldn17 A G 16: 88,506,703 I46T possibly damaging Het
Cnot1 A T 8: 95,728,718 I2025N probably damaging Het
Cntn5 C T 9: 9,706,087 V574M probably damaging Het
Col14a1 T A 15: 55,455,223 C1373S unknown Het
Col9a1 A G 1: 24,185,124 N129S unknown Het
Cp C T 3: 19,977,192 P598S possibly damaging Het
Cpb1 G A 3: 20,266,246 R150C probably damaging Het
Cyp2j7 T A 4: 96,227,680 probably null Het
Dnajb7 T C 15: 81,407,491 E215G possibly damaging Het
Dock1 G A 7: 135,158,510 R1634Q possibly damaging Het
Dopey2 A G 16: 93,757,116 T313A possibly damaging Het
Fgd2 T A 17: 29,366,997 V185E probably damaging Het
Flnb T C 14: 7,902,003 probably null Het
Fzd7 A G 1: 59,483,903 E315G probably benign Het
Gm436 C T 4: 144,674,618 V99M probably damaging Het
Gpihbp1 C T 15: 75,598,128 probably benign Het
Gpr160 T C 3: 30,895,853 S25P possibly damaging Het
Grsf1 G A 5: 88,672,749 R58* probably null Het
Ifit1 T A 19: 34,648,454 M330K probably benign Het
Igkv1-122 T C 6: 68,017,194 V22A probably benign Het
Ikbke A T 1: 131,255,311 D692E probably benign Het
Il15ra T C 2: 11,733,145 probably benign Het
Il18rap A G 1: 40,537,084 I252V probably damaging Het
Klra10 C T 6: 130,272,717 G202R probably damaging Het
Kpna7 A G 5: 144,992,851 V388A probably damaging Het
L2hgdh A G 12: 69,721,401 S108P probably damaging Het
Msto1 G A 3: 88,910,743 T388M probably benign Het
Naip1 T C 13: 100,425,933 E908G probably damaging Het
Neto1 C A 18: 86,473,689 D238E possibly damaging Het
Nlrp5 T A 7: 23,417,734 D294E probably benign Het
Nr3c2 T C 8: 76,909,187 S306P probably damaging Het
Olfr890 T A 9: 38,143,871 C240* probably null Het
Pard3 T A 8: 127,324,063 L202H probably damaging Het
Pdzd2 T C 15: 12,458,207 N190S probably damaging Het
Pi4ka T C 16: 17,309,358 D1077G probably benign Het
Pmfbp1 A C 8: 109,513,911 L208F probably damaging Het
Pms1 C T 1: 53,206,971 D470N probably benign Het
Prdm10 T C 9: 31,327,282 F108L probably benign Het
Rab11fip1 A T 8: 27,154,776 M327K possibly damaging Het
Slc37a4 T A 9: 44,399,964 L184Q probably damaging Het
Smdt1 T C 15: 82,347,893 probably benign Het
Smg6 A G 11: 75,156,291 Y1270C probably damaging Het
Speer4f2 T A 5: 17,376,567 V169E possibly damaging Het
Stpg2 C T 3: 139,317,453 A410V probably benign Het
Tnrc6b T A 15: 80,879,963 D555E probably benign Het
Tsg101 A G 7: 46,909,060 Y46H probably damaging Het
Vmn2r111 G A 17: 22,548,572 S648L probably benign Het
Vmn2r73 T A 7: 85,858,059 R682* probably null Het
Xkr5 A T 8: 18,933,498 I676N probably damaging Het
Other mutations in Gjc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03164:Gjc1 APN 11 102800721 missense possibly damaging 0.81
IGL03396:Gjc1 APN 11 102800527 missense probably benign 0.00
PIT4812001:Gjc1 UTSW 11 102800981 nonsense probably null
R0683:Gjc1 UTSW 11 102800411 missense probably benign 0.00
R1712:Gjc1 UTSW 11 102800880 missense possibly damaging 0.96
R3853:Gjc1 UTSW 11 102800126 missense probably benign 0.10
R4948:Gjc1 UTSW 11 102800421 missense probably damaging 1.00
R5564:Gjc1 UTSW 11 102800203 missense probably benign 0.04
R6577:Gjc1 UTSW 11 102800304 missense possibly damaging 0.69
R6939:Gjc1 UTSW 11 102800907 missense probably damaging 0.98
R7263:Gjc1 UTSW 11 102800137 missense possibly damaging 0.69
R7352:Gjc1 UTSW 11 102800452 missense probably damaging 1.00
Posted On2013-12-03