Incidental Mutation 'R7328:Sele'
ID 569030
Institutional Source Beutler Lab
Gene Symbol Sele
Ensembl Gene ENSMUSG00000026582
Gene Name selectin, endothelial cell
Synonyms Elam, CD62E, E-selectin
MMRRC Submission 045421-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R7328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 163875773-163885246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 163876844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 40 (Y40F)
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: Y40F

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027874
Gene: ENSMUSG00000026582
AA Change: Y40F

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C G 11: 72,060,606 (GRCm39) probably null Het
Abca13 T A 11: 9,241,545 (GRCm39) V1136E probably benign Het
Arl4c C A 1: 88,629,239 (GRCm39) E50* probably null Het
Atxn7l1 T C 12: 33,198,502 (GRCm39) probably null Het
Ctdsp1 A T 1: 74,433,199 (GRCm39) I115F probably damaging Het
Cyp2j5 A G 4: 96,551,450 (GRCm39) V91A probably damaging Het
Dscam T A 16: 96,446,235 (GRCm39) K1469* probably null Het
Elf2 A G 3: 51,174,198 (GRCm39) C110R probably damaging Het
Ephb1 A G 9: 102,072,438 (GRCm39) Y114H probably damaging Het
Ephb2 C T 4: 136,386,245 (GRCm39) probably null Het
Fbxw20 C A 9: 109,061,383 (GRCm39) C122F probably damaging Het
Flnb T C 14: 7,883,788 (GRCm38) I338T possibly damaging Het
Flnb T A 14: 7,894,660 (GRCm38) Y819* probably null Het
Foxo3 A T 10: 42,073,258 (GRCm39) S420T probably benign Het
Herpud1 T C 8: 95,113,248 (GRCm39) V10A possibly damaging Het
Hmcn1 A T 1: 150,514,617 (GRCm39) V3585E possibly damaging Het
Hsdl1 T C 8: 120,292,830 (GRCm39) T202A probably benign Het
Htr1d G A 4: 136,170,614 (GRCm39) S281N probably benign Het
Igkv14-111 T A 6: 68,233,709 (GRCm39) I70N probably damaging Het
Igkv8-34 A G 6: 70,021,328 (GRCm39) S45P probably damaging Het
Inha T C 1: 75,486,760 (GRCm39) Y352H probably damaging Het
Lats1 A T 10: 7,581,311 (GRCm39) M699L possibly damaging Het
Marchf9 T C 10: 126,894,165 (GRCm39) E146G probably damaging Het
Mcm8 T C 2: 132,674,777 (GRCm39) V443A probably benign Het
Melk A T 4: 44,332,931 (GRCm39) S296C probably benign Het
Myo18a T C 11: 77,698,737 (GRCm39) S4P Het
Myof T C 19: 37,904,847 (GRCm39) Y1646C probably damaging Het
Noc4l C A 5: 110,796,789 (GRCm39) A498S possibly damaging Het
Nrxn3 T C 12: 88,762,345 (GRCm39) S131P probably benign Het
Or5ae2 T C 7: 84,506,507 (GRCm39) I312T probably benign Het
Or5ak23 A G 2: 85,244,668 (GRCm39) I185T probably benign Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Or8g23 T C 9: 38,971,857 (GRCm39) Y35C probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Phldb2 T A 16: 45,578,572 (GRCm39) probably null Het
Polr2b C T 5: 77,463,846 (GRCm39) P81L probably damaging Het
Rbfa C A 18: 80,236,454 (GRCm39) G215C probably benign Het
Rdh19 T C 10: 127,692,896 (GRCm39) S188P probably damaging Het
Scn9a T C 2: 66,314,931 (GRCm39) M1596V probably benign Het
Setd1b T A 5: 123,290,442 (GRCm39) V803D unknown Het
Siglecf C T 7: 43,001,691 (GRCm39) T167I possibly damaging Het
Slc39a6 T C 18: 24,733,987 (GRCm39) E234G probably benign Het
Slco1a1 T A 6: 141,882,134 (GRCm39) D145V possibly damaging Het
Son G A 16: 91,455,278 (GRCm39) V1342I probably benign Het
Sybu G A 15: 44,651,190 (GRCm39) P38L not run Het
Taf15 C T 11: 83,375,658 (GRCm39) T41M possibly damaging Het
Tm4sf4 A T 3: 57,333,925 (GRCm39) N71Y probably benign Het
Tm7sf2 C T 19: 6,114,156 (GRCm39) V226I possibly damaging Het
Trim66 C A 7: 109,056,958 (GRCm39) Q1066H probably damaging Het
Tyw1 T C 5: 130,291,685 (GRCm39) V51A probably benign Het
Vav3 A T 3: 109,410,744 (GRCm39) I192L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- ATTCTAGCCCCTTGAGATGATCCTC -3'
(R):5'- TGTTTGGTTCACCTGGAGCC -3'

Sequencing Primer
(F):5'- GCCCCTTGAGATGATCCTCTTCTTAC -3'
(R):5'- TGGAGCCCAGTTCTGAGCTTC -3'
Posted On 2019-09-13