Incidental Mutation 'IGL02243:Sele'
ID 286049
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 # IGL02243
Quality Score
Status
Chromosome 1
Chromosomal Location 163875773-163885246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 163880537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 373 (V373A)
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: V373A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027874
Gene: ENSMUSG00000026582
AA Change: V373A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Sele
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Sele APN 1 163,879,403 (GRCm39) missense probably damaging 1.00
IGL02097:Sele APN 1 163,880,662 (GRCm39) missense probably benign 0.02
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