Incidental Mutation 'IGL03396:Gjc1'
ID421252
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 #IGL03396
Quality Score
Status
Chromosome11
Chromosomal Location102799579-102819700 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102800527 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 217 (K217E)
Ref Sequence ENSEMBL: ENSMUSP00000102690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068933] [ENSMUST00000092567] [ENSMUST00000107075]
Predicted Effect probably benign
Transcript: ENSMUST00000068933
AA Change: K217E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: K217E

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: K217E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: K217E

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: K217E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: K217E

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 70,011,413 R457* probably null Het
Arl5b C A 2: 15,075,104 T153K probably damaging Het
Arsb A T 13: 93,939,317 Y436F probably benign Het
Azgp1 C T 5: 137,985,183 P40L possibly damaging Het
B020004C17Rik A G 14: 57,016,536 T39A possibly damaging Het
Cacna2d3 G A 14: 29,720,877 Q67* probably null Het
Cdcp2 C A 4: 107,107,172 Y406* probably null Het
Cep89 T A 7: 35,429,178 D585E probably benign Het
Cfap65 A G 1: 74,904,642 F1570S probably damaging Het
Cnfn A G 7: 25,368,358 probably benign Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fra10ac1 C T 19: 38,201,546 probably null Het
Il20rb T C 9: 100,459,198 E285G probably damaging Het
Ints2 T C 11: 86,213,062 T1086A probably damaging Het
Itih4 A T 14: 30,887,949 I79F probably damaging Het
Jmjd6 A T 11: 116,841,251 L208H probably damaging Het
Lilr4b A G 10: 51,481,157 I30V possibly damaging Het
Limch1 A G 5: 66,953,673 N81S probably damaging Het
Mettl21e A T 1: 44,206,599 N162K possibly damaging Het
Ninl A G 2: 150,966,212 S299P possibly damaging Het
Obscn A G 11: 59,073,578 L3046P probably benign Het
Olfr1450 T A 19: 12,953,820 V77E probably damaging Het
Olfr342 C A 2: 36,527,680 S89R probably benign Het
Olfr780 A G 10: 129,322,047 I141M probably benign Het
Pnpla8 G A 12: 44,283,526 R287H probably benign Het
Pot1a A C 6: 25,745,914 I596R possibly damaging Het
Prkaa1 A G 15: 5,176,650 D329G probably damaging Het
Ptprr T G 10: 116,188,330 V182G probably damaging Het
Rrp1b T A 17: 32,057,263 probably benign Het
Sec24a A G 11: 51,708,967 V837A probably benign Het
Slc17a6 A G 7: 51,669,092 Y494C probably damaging Het
Slc38a10 A T 11: 120,128,475 I360N probably damaging Het
Snrpb2 T C 2: 143,071,457 F194L possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Trpv1 A G 11: 73,253,056 N238S probably benign Het
Usp20 T C 2: 31,011,717 V498A probably benign Het
Vmn2r23 T C 6: 123,729,626 S472P probably damaging Het
Vmn2r98 A T 17: 19,069,845 T548S possibly damaging Het
Zfp429 A T 13: 67,396,040 probably benign Het
Other mutations in Gjc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Gjc1 APN 11 102800726 missense probably benign 0.16
IGL03164:Gjc1 APN 11 102800721 missense possibly damaging 0.81
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
R7900:Gjc1 UTSW 11 102800094 missense probably benign 0.00
R7983:Gjc1 UTSW 11 102800094 missense probably benign 0.00
Z1176:Gjc1 UTSW 11 102800008 missense unknown
Posted On2016-08-02