Incidental Mutation 'IGL03408:Esam'
ID 421673
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esam
Ensembl Gene ENSMUSG00000001946
Gene Name endothelial cell-specific adhesion molecule
Synonyms W117m, 2310008D05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # IGL03408
Quality Score
Status
Chromosome 9
Chromosomal Location 37439385-37449615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37445949 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q925F2
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
Abca12 A T 1: 71,303,954 (GRCm39) F2108I probably damaging Het
Aco2 T C 15: 81,783,424 (GRCm39) probably null Het
Ccdc186 T C 19: 56,787,163 (GRCm39) K602E probably benign Het
Ccdc85a T A 11: 28,526,528 (GRCm39) H360L probably damaging Het
Cited2 A G 10: 17,600,148 (GRCm39) H152R possibly damaging Het
Cluh C A 11: 74,556,779 (GRCm39) R940S probably benign Het
Corin T A 5: 72,500,304 (GRCm39) Y432F probably benign Het
Creb1 A G 1: 64,615,491 (GRCm39) probably null Het
Dhx15 A T 5: 52,317,654 (GRCm39) D568E probably damaging Het
Efcab3 T A 11: 104,601,447 (GRCm39) S253R probably benign Het
Fat3 T A 9: 15,909,253 (GRCm39) K2250* probably null Het
Fbxl17 G A 17: 63,387,541 (GRCm39) R133* probably null Het
Gzmc C T 14: 56,471,473 (GRCm39) G23R probably damaging Het
Idh3a A G 9: 54,504,206 (GRCm39) N189D probably benign Het
Il31ra A T 13: 112,662,422 (GRCm39) D462E probably benign Het
Inava T C 1: 136,142,143 (GRCm39) Y652C probably benign Het
Inpp5j G A 11: 3,452,809 (GRCm39) A147V possibly damaging Het
Kalrn G A 16: 34,134,546 (GRCm39) A412V probably damaging Het
Lrp1b A G 2: 40,748,594 (GRCm39) V2968A probably damaging Het
Morc1 G A 16: 48,262,775 (GRCm39) G42R probably damaging Het
Notch4 T C 17: 34,784,542 (GRCm39) L85P probably benign Het
Or4c52 G A 2: 89,845,915 (GRCm39) V214M probably benign Het
Or5p73 A T 7: 108,064,554 (GRCm39) N8Y probably damaging Het
Parp4 T A 14: 56,839,865 (GRCm39) H524Q probably damaging Het
Pole T C 5: 110,442,426 (GRCm39) F285L probably damaging Het
Scn9a A G 2: 66,357,091 (GRCm39) M1070T probably benign Het
Slc25a32 G A 15: 38,963,425 (GRCm39) A132V probably benign Het
Sult2a2 T G 7: 13,472,154 (GRCm39) I117S probably damaging Het
Suv39h2 T C 2: 3,460,913 (GRCm39) N183S probably damaging Het
Trhr2 G A 8: 123,085,534 (GRCm39) T150M probably damaging Het
Usp34 T A 11: 23,396,957 (GRCm39) F614I possibly damaging Het
Vmn2r17 A G 5: 109,577,238 (GRCm39) probably benign Het
Wfdc2 T A 2: 164,405,283 (GRCm39) C61* probably null Het
Zfp384 T C 6: 125,012,676 (GRCm39) S377P probably damaging Het
Zfp945 A T 17: 23,071,511 (GRCm39) Y150* probably null Het
Other mutations in Esam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03180:Esam APN 9 37,445,866 (GRCm39) missense probably damaging 0.99
R0755:Esam UTSW 9 37,447,998 (GRCm39) missense probably damaging 0.98
R1657:Esam UTSW 9 37,448,917 (GRCm39) missense probably damaging 1.00
R2349:Esam UTSW 9 37,439,527 (GRCm39) missense probably benign
R3418:Esam UTSW 9 37,448,426 (GRCm39) splice site probably null
R4373:Esam UTSW 9 37,445,492 (GRCm39) missense probably benign
R4669:Esam UTSW 9 37,447,952 (GRCm39) nonsense probably null
R6175:Esam UTSW 9 37,439,544 (GRCm39) missense probably benign 0.01
R6357:Esam UTSW 9 37,449,076 (GRCm39) makesense probably null
R7293:Esam UTSW 9 37,449,020 (GRCm39) missense probably damaging 1.00
R7472:Esam UTSW 9 37,448,863 (GRCm39) missense possibly damaging 0.77
R7953:Esam UTSW 9 37,448,317 (GRCm39) missense probably damaging 0.99
R8043:Esam UTSW 9 37,448,317 (GRCm39) missense probably damaging 0.99
R8336:Esam UTSW 9 37,448,362 (GRCm39) missense probably benign 0.37
R8790:Esam UTSW 9 37,442,927 (GRCm39) missense probably benign
Posted On 2016-08-02