Incidental Mutation 'R4896:Siglec1'
ID 377614
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 042500-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4896 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130911140-130928685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130911789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1697 (V1697M)
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: V1697M

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: V1697M

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
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 99% (101/102)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,957,267 (GRCm39) V132A possibly damaging Het
Acp3 A T 9: 104,184,174 (GRCm39) V292E probably damaging Het
Adamts10 T C 17: 33,747,870 (GRCm39) V102A possibly damaging Het
Add2 A G 6: 86,073,728 (GRCm39) T206A probably benign Het
Alg12 A T 15: 88,700,391 (GRCm39) L15Q probably damaging Het
Ankrd27 T A 7: 35,307,800 (GRCm39) D346E probably damaging Het
Armc2 A T 10: 41,799,790 (GRCm39) N689K probably damaging Het
Best3 T A 10: 116,860,460 (GRCm39) D573E probably benign Het
Bltp1 T G 3: 37,020,086 (GRCm39) N2108K probably damaging Het
Ccdc80 A T 16: 44,916,261 (GRCm39) Q339L probably benign Het
Cdh9 T C 15: 16,778,242 (GRCm39) V19A probably benign Het
Cimap1a G A 7: 140,428,398 (GRCm39) probably benign Het
Cnksr1 A T 4: 133,956,986 (GRCm39) probably null Het
Col7a1 T A 9: 108,786,345 (GRCm39) V525E unknown Het
Cplane1 T C 15: 8,251,421 (GRCm39) S1898P probably benign Het
Crebrf T C 17: 26,961,394 (GRCm39) S172P possibly damaging Het
Csmd1 T C 8: 16,059,439 (GRCm39) I2099V probably benign Het
Dcaf4 T A 12: 83,586,233 (GRCm39) M400K possibly damaging Het
Dnah11 A T 12: 117,958,935 (GRCm39) F2983I probably damaging Het
Dock6 A G 9: 21,735,733 (GRCm39) V1005A possibly damaging Het
Dyrk2 C A 10: 118,704,153 (GRCm39) G34C probably damaging Het
Eif4a1 A T 11: 69,559,423 (GRCm39) probably benign Het
Eno4 G T 19: 58,952,975 (GRCm39) D330Y probably damaging Het
Faf1 G A 4: 109,699,496 (GRCm39) C347Y probably benign Het
Fam169a A G 13: 97,234,100 (GRCm39) Y124C probably damaging Het
Fam227a G T 15: 79,521,255 (GRCm39) F269L probably benign Het
Fancm C A 12: 65,122,605 (GRCm39) D42E probably damaging Het
Fat1 T A 8: 45,404,317 (GRCm39) I356N possibly damaging Het
Fer1l6 A T 15: 58,509,869 (GRCm39) T1444S probably damaging Het
Galr1 A G 18: 82,412,065 (GRCm39) L267P probably damaging Het
Gbx1 T C 5: 24,709,837 (GRCm39) H336R probably damaging Het
Gimap8 A T 6: 48,636,281 (GRCm39) Q682L possibly damaging Het
Gm2396 T G 9: 88,813,281 (GRCm39) noncoding transcript Het
Gm5798 T C 14: 41,070,614 (GRCm39) L8S probably damaging Het
Hmgcll1 C T 9: 75,963,460 (GRCm39) S39F possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Il3ra A T 14: 14,355,381 (GRCm38) E289D probably benign Het
Isoc1 T A 18: 58,806,350 (GRCm39) L220Q probably damaging Het
Itga2 T A 13: 114,990,302 (GRCm39) K918* probably null Het
Kat6a C T 8: 23,428,329 (GRCm39) T1228I probably benign Het
Klhl30 T A 1: 91,287,046 (GRCm39) probably null Het
Krtap6-2 A T 16: 89,216,806 (GRCm39) C54S unknown Het
Lmf2 G A 15: 89,236,003 (GRCm39) P634S probably benign Het
Map3k4 A G 17: 12,490,906 (GRCm39) V175A possibly damaging Het
Mcm3 A C 1: 20,890,480 (GRCm39) probably benign Het
Mon1b T C 8: 114,365,859 (GRCm39) S396P probably damaging Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Ncor2 A G 5: 125,126,404 (GRCm39) probably null Het
Nlrc5 T G 8: 95,247,844 (GRCm39) probably benign Het
Nlrp14 GT GTT 7: 106,796,386 (GRCm39) probably null Het
Nwd2 T G 5: 63,962,151 (GRCm39) S578R probably damaging Het
Or12k7 A G 2: 36,958,422 (GRCm39) Y35C probably damaging Het
Or4f4b G A 2: 111,314,005 (GRCm39) V105I possibly damaging Het
Otoa C A 7: 120,701,902 (GRCm39) P194T probably damaging Het
Pde1b A C 15: 103,429,801 (GRCm39) D98A probably damaging Het
Pi4ka A T 16: 17,195,033 (GRCm39) C122S probably damaging Het
Pole2 C T 12: 69,269,924 (GRCm39) V67M probably damaging Het
Prickle2 A T 6: 92,393,736 (GRCm39) D312E probably benign Het
Prkd1 T C 12: 50,436,745 (GRCm39) D453G probably damaging Het
Prrc1 T A 18: 57,507,626 (GRCm39) V260E probably damaging Het
Reg3g A T 6: 78,444,793 (GRCm39) Y62N probably benign Het
Reln C T 5: 22,160,236 (GRCm39) G2111E probably damaging Het
Rsph6a A T 7: 18,791,665 (GRCm39) E278V possibly damaging Het
Scpep1 T A 11: 88,832,122 (GRCm39) I203F probably damaging Het
Sec24d T C 3: 123,148,596 (GRCm39) C747R probably damaging Het
Sec31a A T 5: 100,516,192 (GRCm39) N967K probably damaging Het
Sell T C 1: 163,890,631 (GRCm39) W5R probably benign Het
Sinhcaf A G 6: 148,834,498 (GRCm39) probably null Het
Slc22a26 T A 19: 7,768,419 (GRCm39) I213L probably benign Het
Slc2a13 G A 15: 91,296,415 (GRCm39) P300S probably benign Het
Slco1a4 A G 6: 141,761,231 (GRCm39) Y461H possibly damaging Het
Slco3a1 G C 7: 73,970,304 (GRCm39) C434W probably null Het
Sp3 A T 2: 72,768,633 (GRCm39) V666D probably benign Het
Spidr A T 16: 15,936,806 (GRCm39) W100R possibly damaging Het
Stk33 T A 7: 108,926,802 (GRCm39) M286L probably damaging Het
Sult1c2 T A 17: 54,139,163 (GRCm39) I183F probably benign Het
Svep1 G T 4: 58,087,751 (GRCm39) T1776K probably benign Het
Tesk2 A G 4: 116,660,190 (GRCm39) H436R probably benign Het
Tex2 T C 11: 106,459,230 (GRCm39) T67A probably damaging Het
Timm10 T C 2: 84,660,192 (GRCm39) S44P possibly damaging Het
Tmed11 C A 5: 108,943,048 (GRCm39) probably null Het
Trim12c G A 7: 103,990,155 (GRCm39) R441C probably damaging Het
Trmt2a A G 16: 18,070,793 (GRCm39) K509E probably damaging Het
Upk3a A G 15: 84,903,624 (GRCm39) T108A probably benign Het
Usp29 A G 7: 6,965,158 (GRCm39) M334V probably benign Het
Vash1 A G 12: 86,726,916 (GRCm39) D52G probably benign Het
Vmn2r14 T G 5: 109,368,246 (GRCm39) T249P probably benign Het
Vmn2r43 A T 7: 8,247,848 (GRCm39) F772I probably damaging Het
Vmn2r75 G T 7: 85,820,787 (GRCm39) S49Y probably benign Het
Xdh T C 17: 74,217,238 (GRCm39) T677A probably damaging Het
Zan A G 5: 137,384,718 (GRCm39) L5102P unknown Het
Zfp160 T A 17: 21,240,343 (GRCm39) S9T probably benign Het
Zfp273 A T 13: 67,973,673 (GRCm39) H267L probably damaging Het
Zfp97 T A 17: 17,365,038 (GRCm39) I179K probably benign Het
Zfp975 T C 7: 42,311,716 (GRCm39) Y299C probably damaging 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
R0620:Siglec1 UTSW 2 130,916,188 (GRCm39) missense probably benign 0.30
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
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'- AACATGGCTGAGTCCGTCTC -3'
(R):5'- GAATGAAAGGCCATTTTCCCTC -3'

Sequencing Primer
(F):5'- TGAGTCCGTCTCAGAGCC -3'
(R):5'- GAAAGGCCATTTTCCCTCTCCTAATG -3'
Posted On 2016-03-17