Incidental Mutation 'R9239:Sell'
ID 700620
Institutional Source Beutler Lab
Gene Symbol Sell
Ensembl Gene ENSMUSG00000026581
Gene Name selectin, lymphocyte
Synonyms CD62L, Ly-22, Lyam1, LECAM-1, Lyam-1, Ly-m22, Lnhr, L-selectin
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9239 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 163889556-163908354 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163893176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 131 (I131V)
Ref Sequence ENSEMBL: ENSMUSP00000142237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027871] [ENSMUST00000097491] [ENSMUST00000192047] [ENSMUST00000195358]
AlphaFold P18337
Predicted Effect possibly damaging
Transcript: ENSMUST00000027871
AA Change: I131V

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027871
Gene: ENSMUSG00000026581
AA Change: I131V

DomainStartEndE-ValueType
CLECT 27 156 1.14e-19 SMART
EGF 159 192 6.55e-1 SMART
CCP 197 254 1.09e-11 SMART
CCP 259 316 1.09e-11 SMART
transmembrane domain 333 355 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097491
AA Change: I131V

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095099
Gene: ENSMUSG00000026581
AA Change: I131V

DomainStartEndE-ValueType
CLECT 27 156 1.14e-19 SMART
CCP 161 218 1.09e-11 SMART
CCP 223 280 1.09e-11 SMART
transmembrane domain 297 319 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000192047
AA Change: I131V

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142237
Gene: ENSMUSG00000026581
AA Change: I131V

DomainStartEndE-ValueType
CLECT 27 156 1.14e-19 SMART
CCP 161 218 1.09e-11 SMART
CCP 223 280 1.09e-11 SMART
transmembrane domain 297 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195358
SMART Domains Protein: ENSMUSP00000141365
Gene: ENSMUSG00000026581

DomainStartEndE-ValueType
Pfam:Sushi 1 31 1.3e-4 PFAM
transmembrane domain 48 70 N/A INTRINSIC
Meta Mutation Damage Score 0.1065 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lack of lymphocyte binding to high endothelial venules of peripheral lymph nodes and defects in leukocyte rolling and neutrophil migration into the peritoneum following an inflammatory stimulus. Tumor cellsurvival is also reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 A G 2: 164,646,608 (GRCm39) probably null Het
Aldh1l2 A G 10: 83,342,496 (GRCm39) F438S probably damaging Het
Alk T A 17: 72,256,864 (GRCm39) N665I probably benign Het
Anxa4 T A 6: 86,734,812 (GRCm39) T59S probably benign Het
B3gnt8 ACCCC ACCC 7: 25,327,676 (GRCm39) probably null Het
Cabs1 G A 5: 88,127,385 (GRCm39) R12Q probably benign Het
Cep152 A G 2: 125,425,830 (GRCm39) V845A probably benign Het
Dipk1a T C 5: 108,059,572 (GRCm39) E127G possibly damaging Het
Dsg1a T A 18: 20,473,750 (GRCm39) V941E probably damaging Het
Fbxo11 G T 17: 88,316,522 (GRCm39) H284N Het
Fubp1 A G 3: 151,923,486 (GRCm39) E98G probably damaging Het
Fyco1 A G 9: 123,626,637 (GRCm39) I1358T probably damaging Het
Ginm1 T C 10: 7,649,825 (GRCm39) N156S possibly damaging Het
Gm3739 T C 14: 18,505,221 (GRCm39) Y101C probably damaging Het
Ide T C 19: 37,307,898 (GRCm39) N38S Het
Itgb4 T C 11: 115,898,130 (GRCm39) V1644A probably damaging Het
Itpka A G 2: 119,580,023 (GRCm39) D254G probably damaging Het
Kat7 T A 11: 95,197,020 (GRCm39) R6S probably benign Het
Klhl40 A T 9: 121,607,637 (GRCm39) T266S probably benign Het
Lratd1 A G 12: 14,200,185 (GRCm39) W181R probably damaging Het
Mmaa T C 8: 79,995,856 (GRCm39) D289G probably damaging Het
Muc5ac A T 7: 141,353,954 (GRCm39) D851V probably damaging Het
Or1e29 A G 11: 73,667,346 (GRCm39) V269A probably benign Het
Or52n4 G T 7: 104,293,746 (GRCm39) H278N probably damaging Het
Or6b3 T C 1: 92,439,454 (GRCm39) T99A probably benign Het
Pcdh17 T G 14: 84,770,649 (GRCm39) I1042M probably benign Het
Pipox A G 11: 77,774,765 (GRCm39) I106T probably benign Het
Ppcs C T 4: 119,276,235 (GRCm39) V290M possibly damaging Het
Rnasel T A 1: 153,630,097 (GRCm39) N204K probably damaging Het
Runx1 A G 16: 92,402,935 (GRCm39) Y336H probably damaging Het
Serpina3f A G 12: 104,184,710 (GRCm39) R285G possibly damaging Het
Slc25a2 A T 18: 37,771,169 (GRCm39) M120K possibly damaging Het
Slc47a1 A T 11: 61,250,344 (GRCm39) probably null Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Spats2l A G 1: 57,871,257 (GRCm39) probably benign Het
Spopfm1 T A 3: 94,173,871 (GRCm39) V289E probably benign Het
Taf1b T A 12: 24,606,015 (GRCm39) L431H probably damaging Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Het
Thsd7b G A 1: 130,087,453 (GRCm39) probably null Het
Tmtc4 A G 14: 123,165,078 (GRCm39) Y594H possibly damaging Het
Trim33 T C 3: 103,237,453 (GRCm39) F599L probably benign Het
Vcl A G 14: 21,072,092 (GRCm39) D819G probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r1 G T 3: 64,011,959 (GRCm39) V607L probably damaging Het
Other mutations in Sell
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01981:Sell APN 1 163,893,195 (GRCm39) missense probably benign 0.04
IGL02466:Sell APN 1 163,896,632 (GRCm39) splice site probably null
IGL02578:Sell APN 1 163,893,165 (GRCm39) missense probably damaging 1.00
IGL03243:Sell APN 1 163,892,911 (GRCm39) missense possibly damaging 0.94
dim_sum UTSW 1 163,893,770 (GRCm39) splice site probably null
dim_sum2 UTSW 1 163,893,230 (GRCm39) nonsense probably null
Duct UTSW 1 163,893,122 (GRCm39) missense probably damaging 1.00
Postit UTSW 1 163,893,176 (GRCm39) missense possibly damaging 0.85
R0125:Sell UTSW 1 163,899,674 (GRCm39) splice site probably benign
R0800:Sell UTSW 1 163,893,770 (GRCm39) splice site probably null
R1900:Sell UTSW 1 163,892,907 (GRCm39) missense probably damaging 1.00
R3848:Sell UTSW 1 163,893,230 (GRCm39) nonsense probably null
R4553:Sell UTSW 1 163,899,685 (GRCm39) missense probably benign 0.08
R4671:Sell UTSW 1 163,893,042 (GRCm39) missense probably damaging 1.00
R4685:Sell UTSW 1 163,893,829 (GRCm39) missense probably damaging 1.00
R4896:Sell UTSW 1 163,890,631 (GRCm39) missense probably benign 0.02
R4970:Sell UTSW 1 163,892,887 (GRCm39) missense possibly damaging 0.75
R5112:Sell UTSW 1 163,892,887 (GRCm39) missense possibly damaging 0.75
R6549:Sell UTSW 1 163,893,198 (GRCm39) missense probably damaging 1.00
R7148:Sell UTSW 1 163,893,176 (GRCm39) missense possibly damaging 0.85
R7545:Sell UTSW 1 163,892,903 (GRCm39) missense probably benign 0.21
R8010:Sell UTSW 1 163,893,081 (GRCm39) missense possibly damaging 0.92
R9026:Sell UTSW 1 163,893,042 (GRCm39) missense probably damaging 1.00
R9329:Sell UTSW 1 163,893,122 (GRCm39) missense probably damaging 1.00
R9336:Sell UTSW 1 163,893,177 (GRCm39) missense probably damaging 1.00
R9455:Sell UTSW 1 163,894,218 (GRCm39) missense probably benign 0.02
R9699:Sell UTSW 1 163,893,114 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGCTAGAAAGTTCTGCAAGC -3'
(R):5'- ACCCAGAATAGCAGTTTCTGG -3'

Sequencing Primer
(F):5'- GCAAAATTACACAGATTTAGTCGCC -3'
(R):5'- CCCAGAATAGCAGTTTCTGGGTAATG -3'
Posted On 2022-02-07