Incidental Mutation 'IGL03275:Jam3'
ID415403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jam3
Ensembl Gene ENSMUSG00000031990
Gene Namejunction adhesion molecule 3
Synonyms1110002N23Rik, Jcam3, JAM-C, JAM-3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.582) question?
Stock #IGL03275
Quality Score
Status
Chromosome9
Chromosomal Location27097384-27155421 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27101249 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 201 (T201A)
Ref Sequence ENSEMBL: ENSMUSP00000034472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034472]
Predicted Effect probably damaging
Transcript: ENSMUST00000034472
AA Change: T201A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034472
Gene: ENSMUSG00000031990
AA Change: T201A

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
IG 38 136 2.7e-9 SMART
IGc2 151 226 8.12e-13 SMART
transmembrane domain 245 267 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167074
SMART Domains Protein: ENSMUSP00000128003
Gene: ENSMUSG00000031990

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 18 24 N/A INTRINSIC
IG 38 136 2.7e-9 SMART
Pfam:C2-set_2 138 206 4.8e-7 PFAM
Pfam:Ig_3 139 206 7.1e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217654
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]
PHENOTYPE: Approximately 60% of mice homozygous for a targeted mutation exhibit postnatal lethality. Males are infertile and display small testes and arrested differentiation of round spermatids into spermatozoa, as shown by the absence of acrosomes, elongated nuclei, and morphological signs of polarization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T A 8: 72,445,124 L125H probably damaging Het
2210408I21Rik A T 13: 77,298,555 T816S possibly damaging Het
Aspm T A 1: 139,487,295 I1438N probably damaging Het
BC005561 T A 5: 104,518,277 C222S probably benign Het
Bicdl1 A G 5: 115,731,160 Y134H probably damaging Het
Btnl1 A T 17: 34,385,512 K422N probably damaging Het
Ccdc158 T A 5: 92,629,632 I941F probably benign Het
Crnn A G 3: 93,149,418 K504E possibly damaging Het
Csmd1 T A 8: 16,157,092 I1308L probably benign Het
Cwf19l1 T C 19: 44,123,257 M246V probably benign Het
Desi1 T A 15: 82,003,762 I36F probably damaging Het
Foxf2 A G 13: 31,626,531 N151S probably damaging Het
Fryl A G 5: 73,148,033 V35A possibly damaging Het
Gabrg3 T C 7: 56,773,347 Y201C probably damaging Het
Gm11487 T A 4: 73,403,416 R127S possibly damaging Het
Gm813 T C 16: 58,615,756 Y68C probably damaging Het
Grb10 T A 11: 11,933,591 T500S possibly damaging Het
Hsdl2 A G 4: 59,617,747 *371W probably null Het
Irf7 C A 7: 141,265,146 R49L probably damaging Het
Itpr2 T C 6: 146,158,877 probably benign Het
Mst1 T C 9: 108,084,388 S606P possibly damaging Het
Olfr483 T A 7: 108,103,608 C100S probably damaging Het
Otog A G 7: 46,306,230 E2800G probably damaging Het
Ptpro C T 6: 137,450,006 P292S probably damaging Het
Rab10 A T 12: 3,256,959 Y79N probably damaging Het
Rc3h1 T C 1: 160,959,555 probably null Het
Slc2a3 C T 6: 122,736,742 probably null Het
Sptbn2 T C 19: 4,732,661 Y542H possibly damaging Het
Tas2r110 T C 6: 132,868,098 F31L probably damaging Het
Ttn A G 2: 76,945,107 S1864P probably damaging Het
Ttn A G 2: 76,717,344 S32161P probably damaging Het
Vmn1r228 A G 17: 20,776,842 I138T probably damaging Het
Vmn2r10 T A 5: 109,003,377 T124S probably benign Het
Other mutations in Jam3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Jam3 APN 9 27101892 missense probably damaging 1.00
IGL01311:Jam3 APN 9 27098723 missense probably damaging 0.99
IGL01729:Jam3 APN 9 27105525 missense probably damaging 1.00
IGL03233:Jam3 APN 9 27101921 missense probably damaging 1.00
R0267:Jam3 UTSW 9 27106405 missense probably benign 0.01
R0547:Jam3 UTSW 9 27098888 missense probably damaging 1.00
R0899:Jam3 UTSW 9 27098957 missense probably damaging 1.00
R1499:Jam3 UTSW 9 27106405 missense possibly damaging 0.93
R3926:Jam3 UTSW 9 27106405 missense possibly damaging 0.93
R4044:Jam3 UTSW 9 27101863 critical splice donor site probably null
R4977:Jam3 UTSW 9 27098373 missense probably damaging 0.96
R6527:Jam3 UTSW 9 27155344 missense unknown
R6759:Jam3 UTSW 9 27101980 missense probably benign 0.09
R7843:Jam3 UTSW 9 27106416 critical splice acceptor site probably null
R7926:Jam3 UTSW 9 27106416 critical splice acceptor site probably null
Posted On2016-08-02