Incidental Mutation 'IGL03408:Esam'
ID421673
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esam
Ensembl Gene ENSMUSG00000001946
Gene Nameendothelial cell-specific adhesion molecule
Synonyms2310008D05Rik, W117m
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL03408
Quality Score
Status
Chromosome9
Chromosomal Location37528078-37538319 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 37534653 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 162 (R162S)
Ref Sequence ENSEMBL: ENSMUSP00000122473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002008] [ENSMUST00000002011] [ENSMUST00000123198] [ENSMUST00000144596] [ENSMUST00000146860] [ENSMUST00000214142] [ENSMUST00000215271] [ENSMUST00000215957]
Predicted Effect probably benign
Transcript: ENSMUST00000002008
SMART Domains Protein: ENSMUSP00000002008
Gene: ENSMUSG00000001943

DomainStartEndE-ValueType
IGv 41 124 4.03e-8 SMART
IGc2 158 225 1.06e-7 SMART
transmembrane domain 243 265 N/A INTRINSIC
low complexity region 315 326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002011
AA Change: R192S

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946
AA Change: R192S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IG 39 153 4.82e-6 SMART
IGc2 168 234 1.17e-4 SMART
transmembrane domain 252 274 N/A INTRINSIC
low complexity region 319 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123198
SMART Domains Protein: ENSMUSP00000116300
Gene: ENSMUSG00000001946

DomainStartEndE-ValueType
Blast:IG 9 72 1e-40 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131832
Predicted Effect probably benign
Transcript: ENSMUST00000144596
Predicted Effect possibly damaging
Transcript: ENSMUST00000146860
AA Change: R162S

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122473
Gene: ENSMUSG00000001946
AA Change: R162S

DomainStartEndE-ValueType
IG 9 123 4.82e-6 SMART
IGc2 138 204 1.17e-4 SMART
transmembrane domain 222 244 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000214142
AA Change: A6S
Predicted Effect probably benign
Transcript: ENSMUST00000215271
Predicted Effect probably benign
Transcript: ENSMUST00000215957
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhbit a decrease in body weight, impaired neutrophil transmigration and decreased immune and VEGF-stimulated vascular permeability. Tumor growth is inhibited due to decreased pathological angiogenesis in homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,214,405 Y652C probably benign Het
Abca12 A T 1: 71,264,795 F2108I probably damaging Het
Aco2 T C 15: 81,899,223 probably null Het
Ccdc186 T C 19: 56,798,731 K602E probably benign Het
Ccdc85a T A 11: 28,576,528 H360L probably damaging Het
Cited2 A G 10: 17,724,400 H152R possibly damaging Het
Cluh C A 11: 74,665,953 R940S probably benign Het
Corin T A 5: 72,342,961 Y432F probably benign Het
Creb1 A G 1: 64,576,332 probably null Het
Dhx15 A T 5: 52,160,312 D568E probably damaging Het
Fat3 T A 9: 15,997,957 K2250* probably null Het
Fbxl17 G A 17: 63,080,546 R133* probably null Het
Gm11639 T A 11: 104,710,621 S253R probably benign Het
Gzmc C T 14: 56,234,016 G23R probably damaging Het
Idh3a A G 9: 54,596,922 N189D probably benign Het
Il31ra A T 13: 112,525,888 D462E probably benign Het
Inpp5j G A 11: 3,502,809 A147V possibly damaging Het
Kalrn G A 16: 34,314,176 A412V probably damaging Het
Lrp1b A G 2: 40,858,582 V2968A probably damaging Het
Morc1 G A 16: 48,442,412 G42R probably damaging Het
Notch4 T C 17: 34,565,568 L85P probably benign Het
Olfr1263 G A 2: 90,015,571 V214M probably benign Het
Olfr498 A T 7: 108,465,347 N8Y probably damaging Het
Parp4 T A 14: 56,602,408 H524Q probably damaging Het
Pole T C 5: 110,294,560 F285L probably damaging Het
Scn9a A G 2: 66,526,747 M1070T probably benign Het
Slc25a32 G A 15: 39,100,030 A132V probably benign Het
Sult2a2 T G 7: 13,738,229 I117S probably damaging Het
Suv39h2 T C 2: 3,459,876 N183S probably damaging Het
Trhr2 G A 8: 122,358,795 T150M probably damaging Het
Usp34 T A 11: 23,446,957 F614I possibly damaging Het
Vmn2r17 A G 5: 109,429,372 probably benign Het
Wfdc2 T A 2: 164,563,363 C61* probably null Het
Zfp384 T C 6: 125,035,713 S377P probably damaging Het
Zfp945 A T 17: 22,852,537 Y150* probably null Het
Other mutations in Esam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03180:Esam APN 9 37534570 missense probably damaging 0.99
R0755:Esam UTSW 9 37536702 missense probably damaging 0.98
R1657:Esam UTSW 9 37537621 missense probably damaging 1.00
R2349:Esam UTSW 9 37528231 missense probably benign
R3418:Esam UTSW 9 37537130 splice site probably null
R4373:Esam UTSW 9 37534196 missense probably benign
R4669:Esam UTSW 9 37536656 nonsense probably null
R6175:Esam UTSW 9 37528248 missense probably benign 0.01
R6357:Esam UTSW 9 37537780 makesense probably null
R7293:Esam UTSW 9 37537724 missense probably damaging 1.00
R7472:Esam UTSW 9 37537567 missense possibly damaging 0.77
R8043:Esam UTSW 9 37537021 missense probably damaging 0.99
Posted On2016-08-02