Incidental Mutation 'IGL00528:Spn'
ID 14215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spn
Ensembl Gene ENSMUSG00000051457
Gene Name sialophorin
Synonyms A630014B01Rik, Ly48, Galgp, 3E8 antigen, Ly-48, Cd43, leukosialin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # IGL00528
Quality Score
Status
Chromosome 7
Chromosomal Location 126731404-126736995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126735692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 272 (R272S)
Ref Sequence ENSEMBL: ENSMUSP00000122787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049931] [ENSMUST00000143713]
AlphaFold P15702
Predicted Effect probably damaging
Transcript: ENSMUST00000049931
AA Change: R272S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049534
Gene: ENSMUSG00000051457
AA Change: R272S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 73 88 N/A INTRINSIC
low complexity region 155 166 N/A INTRINSIC
low complexity region 205 241 N/A INTRINSIC
transmembrane domain 249 271 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143713
AA Change: R272S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122787
Gene: ENSMUSG00000051457
AA Change: R272S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 73 88 N/A INTRINSIC
low complexity region 155 166 N/A INTRINSIC
low complexity region 205 241 N/A INTRINSIC
transmembrane domain 249 271 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000205483
AA Change: R16S
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 a major sialoglycoprotein found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It may be part of a physiologic ligand-receptor complex involved in T-cell activation. During T-cell activation, this protein is actively removed from the T-cell-APC (antigen-presenting cell) contact site, suggesting a negative regulatory role in adaptive immune response. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show increased T cell proliferation in response to various stimulation agents and natural antigens, enhanced homotypic adhesion, transient resistance to melanoma growth and metastasis, and decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 3 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Eprs1 G T 1: 185,139,345 (GRCm39) C910F probably benign Het
Pclo G A 5: 14,726,448 (GRCm39) probably benign Het
Siglecg A G 7: 43,058,481 (GRCm39) R123G possibly damaging Het
Other mutations in Spn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02956:Spn APN 7 126,736,432 (GRCm39) missense probably damaging 1.00
IGL03352:Spn APN 7 126,736,178 (GRCm39) missense probably benign 0.00
PIT4520001:Spn UTSW 7 126,735,611 (GRCm39) missense probably damaging 1.00
R0055:Spn UTSW 7 126,735,494 (GRCm39) missense possibly damaging 0.94
R0624:Spn UTSW 7 126,735,380 (GRCm39) missense possibly damaging 0.52
R0905:Spn UTSW 7 126,735,503 (GRCm39) missense probably damaging 0.96
R1256:Spn UTSW 7 126,735,445 (GRCm39) missense possibly damaging 0.55
R2055:Spn UTSW 7 126,736,388 (GRCm39) missense probably damaging 0.96
R2084:Spn UTSW 7 126,736,210 (GRCm39) missense probably benign 0.00
R2105:Spn UTSW 7 126,735,413 (GRCm39) missense probably damaging 0.99
R2251:Spn UTSW 7 126,736,331 (GRCm39) missense probably benign 0.19
R5031:Spn UTSW 7 126,736,402 (GRCm39) missense probably benign
R6146:Spn UTSW 7 126,735,479 (GRCm39) missense possibly damaging 0.72
R6362:Spn UTSW 7 126,735,895 (GRCm39) missense possibly damaging 0.55
R7353:Spn UTSW 7 126,736,178 (GRCm39) missense probably benign 0.00
R7583:Spn UTSW 7 126,736,234 (GRCm39) missense probably damaging 0.99
R8507:Spn UTSW 7 126,735,728 (GRCm39) missense probably damaging 0.99
R9721:Spn UTSW 7 126,735,437 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06