Incidental Mutation 'IGL02097:Sele'
ID 279612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sele
Ensembl Gene ENSMUSG00000026582
Gene Name selectin, endothelial cell
Synonyms Elam, CD62E, E-selectin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02097
Quality Score
Status
Chromosome 1
Chromosomal Location 163875773-163885246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 163880662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 415 (S415P)
Ref Sequence ENSEMBL: ENSMUSP00000027874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027874]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027874
AA Change: S415P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027874
Gene: ENSMUSG00000026582
AA Change: S415P

DomainStartEndE-ValueType
CLECT 21 146 1.45e-21 SMART
EGF 149 182 2.83e-5 SMART
CCP 187 245 1.49e-9 SMART
CCP 250 307 5.43e-12 SMART
CCP 312 370 1.82e-13 SMART
CCP 375 433 1.36e-12 SMART
CCP 438 496 6e-14 SMART
CCP 501 555 1.39e-9 SMART
transmembrane domain 565 587 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit mild defects in neutrophil infiltration during inflammatory responses. When combined with other selectin gene knockouts, more severe defects are present. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A T 5: 105,109,052 (GRCm39) V415D possibly damaging Het
Adcy3 C T 12: 4,262,118 (GRCm39) A1056V probably damaging Het
Adcy5 G A 16: 35,092,468 (GRCm39) A610T probably damaging Het
Arhgap21 G A 2: 20,884,813 (GRCm39) T788I probably benign Het
Asic1 T C 15: 99,592,567 (GRCm39) probably benign Het
Cdhr4 T A 9: 107,870,199 (GRCm39) M68K probably benign Het
Cdhr5 G T 7: 140,849,894 (GRCm39) T637K probably damaging Het
Corin A T 5: 72,529,489 (GRCm39) C289S probably damaging Het
Cpne4 T C 9: 104,563,701 (GRCm39) V26A probably damaging Het
Csmd1 T C 8: 16,261,773 (GRCm39) D908G probably null Het
Cyp2c29 A G 19: 39,296,064 (GRCm39) D126G probably damaging Het
Ddx42 G A 11: 106,129,986 (GRCm39) S426N probably benign Het
Dnah1 C T 14: 31,026,958 (GRCm39) V689M possibly damaging Het
Dtwd1 A G 2: 126,006,715 (GRCm39) T246A probably damaging Het
Fbn1 A T 2: 125,205,889 (GRCm39) M1036K probably damaging Het
Fbxo10 T C 4: 45,048,527 (GRCm39) N536S probably benign Het
Gnal G A 18: 67,350,279 (GRCm39) probably benign Het
Gns A G 10: 121,226,598 (GRCm39) T416A probably benign Het
Heatr5b G A 17: 79,124,943 (GRCm39) T603I probably damaging Het
Hsp90b1 T A 10: 86,527,548 (GRCm39) probably benign Het
Krt23 C T 11: 99,383,836 (GRCm39) G19R probably benign Het
Lama2 C T 10: 27,014,956 (GRCm39) R1584H probably benign Het
Lmbr1l C T 15: 98,815,772 (GRCm39) V11M probably damaging Het
Man1a2 T C 3: 100,489,447 (GRCm39) K511E possibly damaging Het
Mrgpra3 C A 7: 47,239,204 (GRCm39) V241F possibly damaging Het
Myh3 A G 11: 66,973,750 (GRCm39) D141G probably benign Het
Mylk2 G A 2: 152,757,056 (GRCm39) C277Y probably damaging Het
Myo3b A T 2: 70,069,173 (GRCm39) T471S probably damaging Het
Naip1 A G 13: 100,562,096 (GRCm39) V1023A probably benign Het
Olfm5 T A 7: 103,803,438 (GRCm39) T342S probably benign Het
Or10g1 A G 14: 52,647,511 (GRCm39) F273L probably benign Het
Or2f1b T A 6: 42,739,394 (GRCm39) M136K probably damaging Het
Pglyrp4 T C 3: 90,642,910 (GRCm39) F263L probably benign Het
Plekhh2 A T 17: 84,906,608 (GRCm39) T1148S possibly damaging Het
Prrc2b T C 2: 32,081,513 (GRCm39) probably benign Het
Rbm28 G T 6: 29,138,617 (GRCm39) D398E possibly damaging Het
Rnf220 A G 4: 117,130,524 (GRCm39) F234L probably benign Het
Shpk T C 11: 73,094,821 (GRCm39) L79P probably damaging Het
Slc35f4 C T 14: 49,543,703 (GRCm39) A148T probably damaging Het
Slc6a20a G A 9: 123,489,684 (GRCm39) P120S possibly damaging Het
Slc8a2 A G 7: 15,891,081 (GRCm39) E701G possibly damaging Het
Slco1a1 T A 6: 141,885,765 (GRCm39) I87F possibly damaging Het
Srebf1 T G 11: 60,093,650 (GRCm39) D739A probably damaging Het
Thg1l A G 11: 45,841,055 (GRCm39) Y175H probably benign Het
Traf3ip2 G A 10: 39,530,475 (GRCm39) V540M probably damaging Het
Wdr48 A G 9: 119,753,329 (GRCm39) D644G probably damaging Het
Zbtb1 A T 12: 76,433,371 (GRCm39) K452N probably damaging Het
Zfhx2 C T 14: 55,300,351 (GRCm39) G2467R probably damaging Het
Zfp334 A T 2: 165,223,643 (GRCm39) Y133* probably null Het
Other mutations in Sele
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Sele APN 1 163,879,403 (GRCm39) missense probably damaging 1.00
IGL02243:Sele APN 1 163,880,537 (GRCm39) missense probably benign 0.01
IGL02688:Sele APN 1 163,877,699 (GRCm39) missense probably damaging 1.00
IGL03022:Sele APN 1 163,882,248 (GRCm39) missense probably benign 0.01
R0433:Sele UTSW 1 163,876,813 (GRCm39) missense possibly damaging 0.74
R0487:Sele UTSW 1 163,881,184 (GRCm39) nonsense probably null
R0678:Sele UTSW 1 163,882,298 (GRCm39) critical splice donor site probably null
R1295:Sele UTSW 1 163,878,379 (GRCm39) missense probably damaging 1.00
R1296:Sele UTSW 1 163,878,379 (GRCm39) missense probably damaging 1.00
R1532:Sele UTSW 1 163,881,420 (GRCm39) missense probably benign 0.29
R1730:Sele UTSW 1 163,882,192 (GRCm39) missense probably benign
R2102:Sele UTSW 1 163,881,395 (GRCm39) missense probably damaging 1.00
R2384:Sele UTSW 1 163,878,344 (GRCm39) missense probably benign 0.00
R3001:Sele UTSW 1 163,881,140 (GRCm39) missense probably damaging 1.00
R3002:Sele UTSW 1 163,881,140 (GRCm39) missense probably damaging 1.00
R5851:Sele UTSW 1 163,877,143 (GRCm39) missense probably benign 0.06
R6164:Sele UTSW 1 163,879,386 (GRCm39) splice site probably null
R6239:Sele UTSW 1 163,878,377 (GRCm39) missense probably damaging 0.98
R6406:Sele UTSW 1 163,878,312 (GRCm39) missense probably damaging 1.00
R6411:Sele UTSW 1 163,876,984 (GRCm39) missense probably benign 0.03
R6731:Sele UTSW 1 163,881,242 (GRCm39) missense probably damaging 1.00
R6851:Sele UTSW 1 163,881,521 (GRCm39) missense probably damaging 1.00
R7291:Sele UTSW 1 163,881,437 (GRCm39) missense possibly damaging 0.89
R7328:Sele UTSW 1 163,876,844 (GRCm39) missense probably benign 0.23
R7366:Sele UTSW 1 163,876,288 (GRCm39) missense probably benign 0.00
R7393:Sele UTSW 1 163,881,492 (GRCm39) missense probably benign 0.05
R7431:Sele UTSW 1 163,879,189 (GRCm39) missense probably damaging 0.99
R7603:Sele UTSW 1 163,877,084 (GRCm39) missense probably damaging 1.00
R7803:Sele UTSW 1 163,878,263 (GRCm39) missense possibly damaging 0.88
R7807:Sele UTSW 1 163,881,462 (GRCm39) missense probably benign 0.05
R8323:Sele UTSW 1 163,879,207 (GRCm39) missense possibly damaging 0.59
R9018:Sele UTSW 1 163,881,248 (GRCm39) missense probably damaging 1.00
R9310:Sele UTSW 1 163,876,975 (GRCm39) missense probably benign 0.04
R9630:Sele UTSW 1 163,879,523 (GRCm39) missense probably damaging 0.99
X0005:Sele UTSW 1 163,876,912 (GRCm39) missense probably damaging 1.00
X0021:Sele UTSW 1 163,881,180 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16