Incidental Mutation 'IGL02956:Spn'
ID 365114
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 # IGL02956
Quality Score
Status
Chromosome 7
Chromosomal Location 126731404-126736995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126736432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 25 (T25M)
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: T25M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049534
Gene: ENSMUSG00000051457
AA Change: T25M

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: T25M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122787
Gene: ENSMUSG00000051457
AA Change: T25M

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 benign
Transcript: ENSMUST00000205483
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,873,049 (GRCm39) A339V probably benign Het
Adck2 T C 6: 39,553,436 (GRCm39) V349A probably benign Het
Akna G T 4: 63,304,516 (GRCm39) T546K probably benign Het
Albfm1 A G 5: 90,727,497 (GRCm39) I372V possibly damaging Het
Ankrd29 T C 18: 12,393,993 (GRCm39) K274E probably damaging Het
Apc2 A T 10: 80,142,209 (GRCm39) N376I probably damaging Het
Cadps A G 14: 12,418,047 (GRCm38) probably benign Het
Cbl T C 9: 44,080,331 (GRCm39) T243A probably damaging Het
Cep15 A G 14: 12,287,326 (GRCm38) N29S probably benign Het
Cfap52 T C 11: 67,844,901 (GRCm39) E56G probably benign Het
Chd5 C A 4: 152,464,413 (GRCm39) P1561Q probably benign Het
Dscam A G 16: 96,602,472 (GRCm39) S657P probably damaging Het
Ece1 T C 4: 137,690,149 (GRCm39) F732L probably damaging Het
Eno2 T C 6: 124,740,082 (GRCm39) D199G probably damaging Het
Enpp3 A G 10: 24,650,841 (GRCm39) probably benign Het
Fbxl15 G T 19: 46,317,690 (GRCm39) C124F probably damaging Het
Fermt3 T C 19: 6,979,712 (GRCm39) S474G probably benign Het
Fkbp6 T C 5: 135,368,350 (GRCm39) E252G probably damaging Het
Gm6625 A T 8: 89,873,667 (GRCm39) noncoding transcript Het
Gnl1 T C 17: 36,298,504 (GRCm39) I416T probably benign Het
Gp1bb C A 16: 18,439,675 (GRCm39) A140S probably benign Het
Grin2c A G 11: 115,148,785 (GRCm39) V271A possibly damaging Het
Heatr1 T A 13: 12,430,940 (GRCm39) S1012T possibly damaging Het
Ighv5-6 T A 12: 113,589,523 (GRCm39) probably benign Het
Itga10 A G 3: 96,562,429 (GRCm39) E737G possibly damaging Het
Lmod2 A C 6: 24,603,631 (GRCm39) N202T probably damaging Het
Lrp1 C T 10: 127,380,428 (GRCm39) V3908I probably benign Het
Lrrtm4 T C 6: 79,998,633 (GRCm39) V15A probably benign Het
Mup4 A T 4: 59,959,263 (GRCm39) D77E probably benign Het
Myh7b A T 2: 155,474,823 (GRCm39) E1787V probably damaging Het
Myh7b T A 2: 155,467,874 (GRCm39) M804K possibly damaging Het
Nup133 T C 8: 124,675,822 (GRCm39) S32G probably benign Het
Or13c7d T A 4: 43,770,399 (GRCm39) N204I probably benign Het
Or52h1 T C 7: 103,829,334 (GRCm39) I94V probably damaging Het
Or7d10 T C 9: 19,832,348 (GRCm39) V281A possibly damaging Het
Or8b8 A G 9: 37,809,404 (GRCm39) K235E probably damaging Het
Polr2m T C 9: 71,390,911 (GRCm39) D97G possibly damaging Het
Pou2f3 A G 9: 43,054,100 (GRCm39) probably benign Het
Rex1bd C A 8: 70,958,552 (GRCm39) V72F possibly damaging Het
Rgp1 A G 4: 43,581,505 (GRCm39) T261A possibly damaging Het
Satb2 A G 1: 56,987,334 (GRCm39) F84L probably damaging Het
Sec14l1 G A 11: 117,043,973 (GRCm39) D494N probably benign Het
Trp73 G A 4: 154,148,920 (GRCm39) probably benign Het
Tsc22d2 A G 3: 58,324,967 (GRCm39) T620A unknown Het
Zfp276 T C 8: 123,981,483 (GRCm39) L10P probably damaging Het
Zfp93 T A 7: 23,974,400 (GRCm39) N128K probably benign Het
Other mutations in Spn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00528:Spn APN 7 126,735,692 (GRCm39) missense probably damaging 0.96
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 2015-12-18