Incidental Mutation 'R8507:Spn'
ID 655630
Institutional Source Beutler Lab
Gene Symbol Spn
Ensembl Gene ENSMUSG00000051457
Gene Name sialophorin
Synonyms A630014B01Rik, Ly48, Galgp, 3E8 antigen, Ly-48, Cd43, leukosialin
MMRRC Submission 067843-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R8507 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126731404-126736995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126735728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 260 (V260M)
Ref Sequence ENSEMBL: ENSMUSP00000049534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049931] [ENSMUST00000143713]
AlphaFold P15702
PDB Structure Crystal Structure Analysis of the radixin FERM domain complexed with adhesion molecule CD43 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000049931
AA Change: V260M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049534
Gene: ENSMUSG00000051457
AA Change: V260M

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: V260M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122787
Gene: ENSMUSG00000051457
AA Change: V260M

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: V4M
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 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 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,763,773 (GRCm39) C126R probably damaging Het
Agpat5 G A 8: 18,928,043 (GRCm39) V203I possibly damaging Het
Ankrd12 T A 17: 66,293,904 (GRCm39) R510* probably null Het
Anxa6 C T 11: 54,904,696 (GRCm39) A22T probably benign Het
Barx2 A T 9: 31,770,309 (GRCm39) L73Q probably damaging Het
BC024139 T C 15: 76,004,333 (GRCm39) K702R possibly damaging Het
Cc2d1a T C 8: 84,861,605 (GRCm39) K739R probably benign Het
Cdk12 A G 11: 98,141,111 (GRCm39) T1451A unknown Het
Chd7 A G 4: 8,858,675 (GRCm39) E2367G probably damaging Het
Cp A G 3: 20,025,193 (GRCm39) Y384C probably damaging Het
Dnah14 T A 1: 181,468,979 (GRCm39) W1270R probably benign Het
Dyrk2 G T 10: 118,696,567 (GRCm39) S230R probably damaging Het
Epn3 A T 11: 94,384,602 (GRCm39) S290R probably damaging Het
Fas C T 19: 34,304,626 (GRCm39) R296C probably benign Het
Fmnl1 A T 11: 103,084,859 (GRCm39) N659I unknown Het
Gas8 T C 8: 124,257,777 (GRCm39) probably null Het
Gpr156 A G 16: 37,768,598 (GRCm39) T40A probably benign Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Htr3b C A 9: 48,876,177 (GRCm39) probably benign Het
Itgal C T 7: 126,928,607 (GRCm39) T1044I probably benign Het
Itprid2 A G 2: 79,475,208 (GRCm39) Q389R probably benign Het
Kcnip4 T G 5: 48,639,997 (GRCm39) D38A possibly damaging Het
Kcnma1 G T 14: 23,641,706 (GRCm39) Q216K probably benign Het
Kdsr T A 1: 106,671,400 (GRCm39) E203V probably null Het
Lrp1b T C 2: 41,298,387 (GRCm39) E999G Het
Malt1 T A 18: 65,603,594 (GRCm39) W577R probably damaging Het
Mroh2b A C 15: 4,978,572 (GRCm39) T1373P probably damaging Het
Mymk A G 2: 26,952,712 (GRCm39) probably null Het
Myo1f T A 17: 33,816,992 (GRCm39) H707Q probably benign Het
Ncam2 C A 16: 81,309,867 (GRCm39) H452Q possibly damaging Het
Ndrg4 A G 8: 96,404,975 (GRCm39) M1V probably null Het
Nps C T 7: 134,874,079 (GRCm39) S83L probably damaging Het
Nup155 T A 15: 8,177,044 (GRCm39) Y1040* probably null Het
Or1j15 T C 2: 36,459,443 (GRCm39) Y278H probably damaging Het
Or2ak4 C T 11: 58,648,985 (GRCm39) Q165* probably null Het
Or4f7 T C 2: 111,645,051 (GRCm39) T7A probably benign Het
Or5h22 C T 16: 58,895,243 (GRCm39) V67M possibly damaging Het
Pak1ip1 G A 13: 41,162,770 (GRCm39) R191Q probably benign Het
Pcdh17 G A 14: 84,683,384 (GRCm39) probably benign Het
Pcdhgc5 G T 18: 37,952,945 (GRCm39) R73L probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Plxnd1 A T 6: 115,943,866 (GRCm39) N1144K probably damaging Het
Ppp1r1b G T 11: 98,246,310 (GRCm39) E133D probably damaging Het
Ptpn13 A G 5: 103,705,815 (GRCm39) E1396G probably damaging Het
Reps1 T C 10: 17,970,218 (GRCm39) S272P probably damaging Het
Ric8b T C 10: 84,816,039 (GRCm39) V430A probably damaging Het
Septin10 A T 10: 59,012,825 (GRCm39) N264K possibly damaging Het
Sgms1 A T 19: 32,137,109 (GRCm39) F152L probably benign Het
Snapc1 C A 12: 74,011,506 (GRCm39) F57L probably damaging Het
Spidr A G 16: 15,786,540 (GRCm39) L401P probably damaging Het
Sptan1 G A 2: 29,916,596 (GRCm39) A2095T probably damaging Het
Tbc1d15 A G 10: 115,038,407 (GRCm39) probably null Het
Thsd7b T A 1: 129,605,790 (GRCm39) F510L probably benign Het
Trpm5 T A 7: 142,632,050 (GRCm39) I920F probably damaging Het
Tspear C A 10: 77,710,898 (GRCm39) H507N probably benign Het
Vmn2r108 T A 17: 20,683,195 (GRCm39) K670* probably null Het
Vmn2r75 A T 7: 85,797,685 (GRCm39) C709* probably null Het
Wdfy3 G T 5: 102,020,767 (GRCm39) S2494R probably benign Het
Zfp456 A T 13: 67,515,108 (GRCm39) F199L probably damaging Het
Zfp830 A G 11: 82,655,529 (GRCm39) Q111R probably benign Het
Znrf1 G A 8: 112,263,842 (GRCm39) A24T probably damaging Het
Other mutations in Spn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00528:Spn APN 7 126,735,692 (GRCm39) missense probably damaging 0.96
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
R9721:Spn UTSW 7 126,735,437 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTCCGTCTGCTGAAGAACGTAG -3'
(R):5'- ATGCATGGACTCCCTGCTAC -3'

Sequencing Primer
(F):5'- AGTACCTCAGAGCCCTTGTTG -3'
(R):5'- TACCACAGCAACCAGTTCTGTG -3'
Posted On 2020-10-20