Incidental Mutation 'R0620:Siglec1'
ID 58578
Institutional Source Beutler Lab
Gene Symbol Siglec1
Ensembl Gene ENSMUSG00000027322
Gene Name sialic acid binding Ig-like lectin 1, sialoadhesin
Synonyms Sn, CD169, Siglec-1
MMRRC Submission 038809-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0620 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130911140-130928685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130916188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1254 (T1254M)
Ref Sequence ENSEMBL: ENSMUSP00000028794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028794] [ENSMUST00000110227]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028794
AA Change: T1254M

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: T1254M

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 32 142 2.92e-5 SMART
Pfam:C2-set_2 148 235 9.4e-18 PFAM
IGc2 260 319 8.78e-9 SMART
IGc2 344 404 4.07e-4 SMART
IGc2 431 505 3.3e-4 SMART
IGc2 529 589 5.75e-4 SMART
IGc2 622 698 3.54e-4 SMART
low complexity region 700 705 N/A INTRINSIC
IG 716 795 3.35e-5 SMART
IG 804 896 6.51e-3 SMART
IGc2 909 969 4.13e-5 SMART
IG_like 1001 1076 6.78e-2 SMART
low complexity region 1077 1088 N/A INTRINSIC
IG 1094 1171 4.32e-8 SMART
IG_like 1185 1250 1.94e-2 SMART
IG 1268 1345 1.36e-5 SMART
IG_like 1354 1447 1.45e1 SMART
IG_like 1365 1435 4.51e-2 SMART
IG 1454 1534 4.56e-7 SMART
IG_like 1549 1624 1.21e-1 SMART
transmembrane domain 1647 1669 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110227
AA Change: T1254M

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: T1254M

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 32 142 2.92e-5 SMART
Pfam:C2-set_2 148 235 7e-17 PFAM
IGc2 260 319 8.78e-9 SMART
IGc2 344 404 4.07e-4 SMART
IGc2 431 505 3.3e-4 SMART
IGc2 529 589 5.75e-4 SMART
IGc2 622 698 3.54e-4 SMART
low complexity region 700 705 N/A INTRINSIC
IG 716 795 3.35e-5 SMART
IG 804 896 6.51e-3 SMART
IGc2 909 969 4.13e-5 SMART
IG_like 1001 1076 6.78e-2 SMART
low complexity region 1077 1088 N/A INTRINSIC
IG 1094 1171 4.32e-8 SMART
IG_like 1185 1250 1.94e-2 SMART
IG 1268 1345 1.36e-5 SMART
IG_like 1354 1447 1.45e1 SMART
IG_like 1365 1435 4.51e-2 SMART
IG 1454 1534 4.56e-7 SMART
Meta Mutation Damage Score 0.1316 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,835,094 (GRCm39) T679A possibly damaging Het
Ahr T C 12: 35,558,193 (GRCm39) T276A probably benign Het
Akap9 A T 5: 4,114,136 (GRCm39) Q3138H probably damaging Het
Armt1 T A 10: 4,382,689 (GRCm39) F7I probably benign Het
B3galt2 A G 1: 143,521,878 (GRCm39) R5G probably damaging Het
Bod1l T C 5: 41,958,576 (GRCm39) N2750S probably benign Het
Cadps2 T A 6: 23,583,395 (GRCm39) E365V probably damaging Het
Cd200r3 T A 16: 44,778,080 (GRCm39) probably null Het
Cemip2 T A 19: 21,795,335 (GRCm39) S743T probably benign Het
Cst7 T A 2: 150,417,806 (GRCm39) probably benign Het
Defb30 A T 14: 63,287,212 (GRCm39) probably benign Het
Dido1 C T 2: 180,301,644 (GRCm39) G2087S probably benign Het
Dio2 A G 12: 90,704,845 (GRCm39) Y72H probably benign Het
Dnah11 C T 12: 117,951,204 (GRCm39) E3035K probably damaging Het
Dnajb13 T C 7: 100,152,456 (GRCm39) K287E possibly damaging Het
Dnajc11 G A 4: 152,058,085 (GRCm39) V244I possibly damaging Het
Ect2 C T 3: 27,193,801 (GRCm39) A226T probably damaging Het
Ercc8 G A 13: 108,310,595 (GRCm39) probably null Het
Fam120b T A 17: 15,623,189 (GRCm39) M389K probably benign Het
Fam151a A G 4: 106,605,128 (GRCm39) M497V probably benign Het
Fam186b C A 15: 99,178,009 (GRCm39) G439V probably benign Het
Fank1 A G 7: 133,478,494 (GRCm39) Y185C probably damaging Het
Gart T C 16: 91,427,490 (GRCm39) probably benign Het
Glb1l T C 1: 75,176,364 (GRCm39) Y572C probably damaging Het
Gm11563 C T 11: 99,549,263 (GRCm39) A164T unknown Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
Gsdmc3 T A 15: 63,731,542 (GRCm39) D330V probably damaging Het
H2-DMa C T 17: 34,356,934 (GRCm39) T144M probably damaging Het
Haus6 A T 4: 86,501,751 (GRCm39) F707I possibly damaging Het
Hmcn1 T A 1: 150,469,767 (GRCm39) T4971S probably benign Het
Ints6 A T 14: 62,934,208 (GRCm39) F766L probably benign Het
Kdm5d T A Y: 927,330 (GRCm39) M650K probably damaging Het
Kif21b T C 1: 136,087,166 (GRCm39) F881S possibly damaging Het
Klrk1 C A 6: 129,591,598 (GRCm39) Q176H possibly damaging Het
Ky T C 9: 102,414,820 (GRCm39) V244A probably benign Het
Mia2 T A 12: 59,201,205 (GRCm39) L191M possibly damaging Het
Miga2 T A 2: 30,271,756 (GRCm39) probably benign Het
Mtss2 C T 8: 111,464,580 (GRCm39) P322S probably damaging Het
Nalcn A G 14: 123,536,553 (GRCm39) probably benign Het
Ncbp3 T A 11: 72,940,671 (GRCm39) probably benign Het
Nprl3 G A 11: 32,184,876 (GRCm39) L378F probably damaging Het
Ntrk2 A T 13: 58,994,635 (GRCm39) M184L probably benign Het
Or11g1 G T 14: 50,651,154 (GRCm39) C51F probably benign Het
Or9e1 T G 11: 58,732,269 (GRCm39) C110G probably damaging Het
Osbpl9 T C 4: 108,940,325 (GRCm39) E287G probably damaging Het
Parva T C 7: 112,175,618 (GRCm39) F250L probably damaging Het
Pcdhb11 C T 18: 37,554,864 (GRCm39) Q65* probably null Het
Phtf1 A G 3: 103,901,081 (GRCm39) T377A probably damaging Het
Pkp4 G A 2: 59,152,987 (GRCm39) V612I possibly damaging Het
Plscr2 C A 9: 92,169,707 (GRCm39) S52R probably benign Het
Pnisr C T 4: 21,874,092 (GRCm39) probably benign Het
Pole2 A C 12: 69,256,653 (GRCm39) S291A probably damaging Het
Ppp2r5d A G 17: 46,994,944 (GRCm39) F586L probably benign Het
Prrx1 G A 1: 163,085,385 (GRCm39) R182C probably damaging Het
Ptprs A G 17: 56,736,103 (GRCm39) I110T possibly damaging Het
Rasgrf2 G A 13: 92,067,936 (GRCm39) probably benign Het
Resf1 A T 6: 149,229,873 (GRCm39) Q973L probably damaging Het
Riox2 T C 16: 59,312,255 (GRCm39) V464A probably benign Het
Robo2 A G 16: 73,764,690 (GRCm39) V646A possibly damaging Het
Ros1 T A 10: 51,994,444 (GRCm39) I1279F probably damaging Het
Snx7 T C 3: 117,640,324 (GRCm39) N62D probably damaging Het
Sp100 G A 1: 85,587,588 (GRCm39) probably null Het
Stil A T 4: 114,864,356 (GRCm39) I86L possibly damaging Het
Tbc1d16 T A 11: 119,099,864 (GRCm39) D170V probably benign Het
Trappc13 G A 13: 104,297,589 (GRCm39) T105M probably damaging Het
Trhr T A 15: 44,092,896 (GRCm39) S378T probably benign Het
Ttc7b T C 12: 100,466,332 (GRCm39) probably null Het
Vegfc A T 8: 54,610,174 (GRCm39) Y110F probably benign Het
Vmn1r184 C A 7: 25,966,602 (GRCm39) P116H possibly damaging Het
Vmn2r5 A T 3: 64,411,235 (GRCm39) C444* probably null Het
Zfp341 A G 2: 154,476,193 (GRCm39) E460G possibly damaging Het
Zfp819 T A 7: 43,265,868 (GRCm39) V41E probably benign Het
Other mutations in Siglec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Siglec1 APN 2 130,921,245 (GRCm39) missense probably benign 0.03
IGL01092:Siglec1 APN 2 130,921,137 (GRCm39) missense probably damaging 1.00
IGL01115:Siglec1 APN 2 130,916,422 (GRCm39) missense probably benign 0.01
IGL01324:Siglec1 APN 2 130,927,461 (GRCm39) missense probably damaging 1.00
IGL01330:Siglec1 APN 2 130,916,925 (GRCm39) nonsense probably null
IGL01330:Siglec1 APN 2 130,925,456 (GRCm39) missense probably damaging 1.00
IGL01558:Siglec1 APN 2 130,920,419 (GRCm39) missense probably damaging 0.96
IGL01632:Siglec1 APN 2 130,925,740 (GRCm39) missense probably benign 0.03
IGL01768:Siglec1 APN 2 130,916,314 (GRCm39) missense probably benign
IGL02399:Siglec1 APN 2 130,913,098 (GRCm39) missense probably benign 0.16
IGL02558:Siglec1 APN 2 130,916,915 (GRCm39) missense possibly damaging 0.88
IGL02794:Siglec1 APN 2 130,917,889 (GRCm39) missense possibly damaging 0.86
IGL02839:Siglec1 APN 2 130,926,852 (GRCm39) missense possibly damaging 0.82
aggressor UTSW 2 130,925,861 (GRCm39) nonsense probably null
boris UTSW 2 130,921,297 (GRCm39) nonsense probably null
espia UTSW 2 130,914,664 (GRCm39) missense probably damaging 0.98
hoodlum UTSW 2 130,914,667 (GRCm39) missense possibly damaging 0.88
microfische UTSW 2 130,928,015 (GRCm39) missense possibly damaging 0.73
K3955:Siglec1 UTSW 2 130,923,359 (GRCm39) missense probably benign 0.00
P0038:Siglec1 UTSW 2 130,923,359 (GRCm39) missense probably benign 0.00
PIT4576001:Siglec1 UTSW 2 130,920,081 (GRCm39) missense probably damaging 1.00
PIT4677001:Siglec1 UTSW 2 130,914,677 (GRCm39) missense probably damaging 1.00
R0003:Siglec1 UTSW 2 130,916,980 (GRCm39) missense probably benign 0.00
R0048:Siglec1 UTSW 2 130,915,317 (GRCm39) missense possibly damaging 0.65
R0048:Siglec1 UTSW 2 130,915,317 (GRCm39) missense possibly damaging 0.65
R0243:Siglec1 UTSW 2 130,927,396 (GRCm39) missense probably damaging 1.00
R0276:Siglec1 UTSW 2 130,925,861 (GRCm39) nonsense probably null
R0379:Siglec1 UTSW 2 130,916,445 (GRCm39) splice site probably benign
R0464:Siglec1 UTSW 2 130,921,279 (GRCm39) missense probably damaging 1.00
R0507:Siglec1 UTSW 2 130,916,445 (GRCm39) splice site probably benign
R0560:Siglec1 UTSW 2 130,912,266 (GRCm39) missense probably benign 0.02
R0621:Siglec1 UTSW 2 130,916,188 (GRCm39) missense probably benign 0.30
R0853:Siglec1 UTSW 2 130,926,942 (GRCm39) missense probably damaging 0.98
R1079:Siglec1 UTSW 2 130,921,297 (GRCm39) nonsense probably null
R1169:Siglec1 UTSW 2 130,916,747 (GRCm39) missense probably damaging 0.97
R1205:Siglec1 UTSW 2 130,922,384 (GRCm39) missense possibly damaging 0.94
R1293:Siglec1 UTSW 2 130,915,451 (GRCm39) missense probably benign 0.00
R1470:Siglec1 UTSW 2 130,912,307 (GRCm39) missense probably benign 0.19
R1470:Siglec1 UTSW 2 130,912,307 (GRCm39) missense probably benign 0.19
R1533:Siglec1 UTSW 2 130,918,078 (GRCm39) missense probably benign
R1717:Siglec1 UTSW 2 130,925,932 (GRCm39) missense probably damaging 1.00
R1717:Siglec1 UTSW 2 130,915,876 (GRCm39) missense possibly damaging 0.92
R1744:Siglec1 UTSW 2 130,923,219 (GRCm39) missense probably damaging 1.00
R1852:Siglec1 UTSW 2 130,923,420 (GRCm39) missense probably damaging 0.98
R1941:Siglec1 UTSW 2 130,920,051 (GRCm39) missense possibly damaging 0.94
R2011:Siglec1 UTSW 2 130,925,277 (GRCm39) missense probably damaging 1.00
R2012:Siglec1 UTSW 2 130,925,277 (GRCm39) missense probably damaging 1.00
R2128:Siglec1 UTSW 2 130,922,417 (GRCm39) missense probably damaging 1.00
R2278:Siglec1 UTSW 2 130,913,257 (GRCm39) missense probably benign 0.28
R2403:Siglec1 UTSW 2 130,916,395 (GRCm39) missense possibly damaging 0.65
R2449:Siglec1 UTSW 2 130,920,645 (GRCm39) missense probably benign 0.44
R2885:Siglec1 UTSW 2 130,914,667 (GRCm39) missense possibly damaging 0.88
R4213:Siglec1 UTSW 2 130,916,038 (GRCm39) missense probably damaging 1.00
R4274:Siglec1 UTSW 2 130,927,734 (GRCm39) missense probably benign 0.00
R4679:Siglec1 UTSW 2 130,915,331 (GRCm39) missense possibly damaging 0.87
R4715:Siglec1 UTSW 2 130,916,356 (GRCm39) missense probably damaging 1.00
R4782:Siglec1 UTSW 2 130,917,843 (GRCm39) missense probably damaging 1.00
R4896:Siglec1 UTSW 2 130,911,789 (GRCm39) missense probably benign 0.21
R4993:Siglec1 UTSW 2 130,915,281 (GRCm39) missense possibly damaging 0.93
R5004:Siglec1 UTSW 2 130,915,331 (GRCm39) missense possibly damaging 0.87
R5004:Siglec1 UTSW 2 130,911,789 (GRCm39) missense probably benign 0.21
R5105:Siglec1 UTSW 2 130,922,320 (GRCm39) missense possibly damaging 0.69
R5137:Siglec1 UTSW 2 130,923,264 (GRCm39) missense probably damaging 1.00
R5153:Siglec1 UTSW 2 130,927,497 (GRCm39) missense probably damaging 0.99
R5311:Siglec1 UTSW 2 130,921,236 (GRCm39) missense probably damaging 1.00
R5600:Siglec1 UTSW 2 130,927,503 (GRCm39) missense probably benign 0.01
R5682:Siglec1 UTSW 2 130,925,930 (GRCm39) missense probably damaging 1.00
R5732:Siglec1 UTSW 2 130,916,188 (GRCm39) missense probably benign 0.30
R5870:Siglec1 UTSW 2 130,914,767 (GRCm39) missense probably damaging 0.99
R5898:Siglec1 UTSW 2 130,915,553 (GRCm39) missense probably damaging 1.00
R5909:Siglec1 UTSW 2 130,919,884 (GRCm39) missense probably damaging 1.00
R6488:Siglec1 UTSW 2 130,923,227 (GRCm39) missense probably damaging 0.99
R6920:Siglec1 UTSW 2 130,919,997 (GRCm39) nonsense probably null
R7064:Siglec1 UTSW 2 130,925,834 (GRCm39) missense probably benign 0.00
R7270:Siglec1 UTSW 2 130,923,471 (GRCm39) missense possibly damaging 0.67
R7355:Siglec1 UTSW 2 130,922,371 (GRCm39) missense probably benign 0.02
R7400:Siglec1 UTSW 2 130,928,015 (GRCm39) missense possibly damaging 0.73
R7470:Siglec1 UTSW 2 130,917,744 (GRCm39) missense probably benign 0.00
R7568:Siglec1 UTSW 2 130,914,602 (GRCm39) missense probably damaging 1.00
R7781:Siglec1 UTSW 2 130,923,258 (GRCm39) missense probably damaging 1.00
R7853:Siglec1 UTSW 2 130,923,212 (GRCm39) missense probably damaging 1.00
R7999:Siglec1 UTSW 2 130,913,083 (GRCm39) missense probably benign 0.28
R8191:Siglec1 UTSW 2 130,927,599 (GRCm39) missense probably damaging 1.00
R8274:Siglec1 UTSW 2 130,925,830 (GRCm39) missense probably benign
R8345:Siglec1 UTSW 2 130,920,498 (GRCm39) missense possibly damaging 0.95
R8670:Siglec1 UTSW 2 130,923,387 (GRCm39) missense probably damaging 1.00
R8814:Siglec1 UTSW 2 130,914,664 (GRCm39) missense probably damaging 0.98
R9102:Siglec1 UTSW 2 130,915,389 (GRCm39) missense probably benign 0.01
R9311:Siglec1 UTSW 2 130,916,013 (GRCm39) missense probably damaging 1.00
R9416:Siglec1 UTSW 2 130,925,390 (GRCm39) missense probably benign 0.01
R9462:Siglec1 UTSW 2 130,916,404 (GRCm39) missense probably damaging 1.00
R9521:Siglec1 UTSW 2 130,915,246 (GRCm39) critical splice donor site probably null
R9683:Siglec1 UTSW 2 130,921,236 (GRCm39) missense probably damaging 0.99
R9799:Siglec1 UTSW 2 130,915,941 (GRCm39) missense probably damaging 0.99
X0024:Siglec1 UTSW 2 130,922,411 (GRCm39) missense probably damaging 1.00
Z1176:Siglec1 UTSW 2 130,922,444 (GRCm39) missense possibly damaging 0.83
Z1176:Siglec1 UTSW 2 130,920,665 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCCATTGTGAAACCAGGCATAGAG -3'
(R):5'- GTGGTAGTTCCAGCACCATGTGAAG -3'

Sequencing Primer
(F):5'- GTCCTCGCAGGTCACTG -3'
(R):5'- GCAAACTGGTCTCTGTGTAAC -3'
Posted On 2013-07-11