Incidental Mutation 'R5682:Siglec1'
ID 443084
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 043318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5682 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130911140-130928685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130925930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 259 (I259F)
Ref Sequence ENSEMBL: ENSMUSP00000105856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028794] [ENSMUST00000110226] [ENSMUST00000110227]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028794
AA Change: I259F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: I259F

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 damaging
Transcript: ENSMUST00000110226
AA Change: I259F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105855
Gene: ENSMUSG00000027322
AA Change: I259F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 32 142 2.92e-5 SMART
Pfam:C2-set_2 148 235 7.7e-18 PFAM
IGc2 260 319 8.78e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110227
AA Change: I259F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: I259F

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
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,283,723 (GRCm39) S7T probably benign Het
Acot4 G A 12: 84,085,576 (GRCm39) V98M probably damaging Het
Acsm2 A T 7: 119,162,774 (GRCm39) N41I probably benign Het
Adamtsl3 A T 7: 82,255,758 (GRCm39) N1590I probably damaging Het
Ank3 G A 10: 69,729,347 (GRCm39) G714R probably damaging Het
Armh4 T C 14: 49,989,043 (GRCm39) D642G probably damaging Het
Ash1l G A 3: 88,914,914 (GRCm39) R1848Q probably damaging Het
Atp1a4 A T 1: 172,081,730 (GRCm39) Y141N probably damaging Het
Atxn3 A T 12: 101,924,406 (GRCm39) I1N probably damaging Het
Avil A C 10: 126,849,973 (GRCm39) Q608P probably damaging Het
Axin1 T C 17: 26,406,775 (GRCm39) V456A probably benign Het
Cacna1g A G 11: 94,349,940 (GRCm39) L635P probably damaging Het
Card11 G A 5: 140,888,666 (GRCm39) Q231* probably null Het
Ccdc162 G A 10: 41,432,799 (GRCm39) R500* probably null Het
Cdh24 T C 14: 54,874,805 (GRCm39) D400G probably damaging Het
Cep112 T C 11: 108,361,138 (GRCm39) L164P probably damaging Het
Corin A G 5: 72,579,497 (GRCm39) S224P possibly damaging Het
Csgalnact2 T C 6: 118,097,953 (GRCm39) Y371C probably damaging Het
Cspg4 A T 9: 56,793,480 (GRCm39) E405V probably benign Het
Ctnna3 T A 10: 64,709,085 (GRCm39) M708K probably damaging Het
Cyp7a1 T A 4: 6,268,429 (GRCm39) Y432F probably benign Het
Dcaf11 T A 14: 55,800,883 (GRCm39) V113E probably damaging Het
Dhx29 T C 13: 113,067,383 (GRCm39) I88T probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Elmo2 A G 2: 165,139,330 (GRCm39) F406L probably damaging Het
Eps15l1 G A 8: 73,125,592 (GRCm39) Q648* probably null Het
Fam171a1 G A 2: 3,227,126 (GRCm39) R753Q probably damaging Het
Figla T A 6: 85,995,604 (GRCm39) V86E probably damaging Het
Galnt7 C A 8: 58,036,967 (GRCm39) E141* probably null Het
Garnl3 A G 2: 32,944,185 (GRCm39) Y125H probably damaging Het
Gnb5 A G 9: 75,234,523 (GRCm39) D74G probably damaging Het
Grk1 A T 8: 13,464,351 (GRCm39) I408F possibly damaging Het
Has1 A T 17: 18,064,425 (GRCm39) W405R possibly damaging Het
Hdac5 A G 11: 102,104,749 (GRCm39) probably benign Het
Helq T A 5: 100,933,170 (GRCm39) M555L probably benign Het
Hipk2 T C 6: 38,714,408 (GRCm39) N556S possibly damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Ing3 T C 6: 21,968,949 (GRCm39) S144P probably damaging Het
Itgb1 G A 8: 129,453,549 (GRCm39) probably null Het
Kcnh4 A T 11: 100,640,628 (GRCm39) M466K possibly damaging Het
Krit1 T A 5: 3,880,737 (GRCm39) N565K probably damaging Het
Limk1 A C 5: 134,694,059 (GRCm39) probably null Het
Lrif1 T C 3: 106,639,884 (GRCm39) I323T possibly damaging Het
Macf1 T C 4: 123,328,552 (GRCm39) E1811G probably damaging Het
Mctp2 A C 7: 71,895,207 (GRCm39) probably null Het
Mmp21 A G 7: 133,276,358 (GRCm39) I495T probably benign Het
Mpz A T 1: 170,986,463 (GRCm39) T126S possibly damaging Het
Napsa A G 7: 44,234,768 (GRCm39) Y301C possibly damaging Het
Ncbp1 T A 4: 46,170,474 (GRCm39) probably benign Het
Nup160 A G 2: 90,510,155 (GRCm39) E47G probably benign Het
Or8b56 A G 9: 38,739,424 (GRCm39) I146V probably benign Het
Pcdha11 A G 18: 37,144,502 (GRCm39) K198E probably damaging Het
Pcdha3 A G 18: 37,081,040 (GRCm39) D594G probably damaging Het
Pdcd5 G A 7: 35,346,613 (GRCm39) probably benign Het
Pdhx A T 2: 102,865,685 (GRCm39) S166T probably benign Het
Pigc A G 1: 161,798,516 (GRCm39) Y166C probably damaging Het
Prkch C T 12: 73,744,724 (GRCm39) H246Y probably damaging Het
Ptk2 A T 15: 73,134,413 (GRCm39) L562* probably null Het
Rab3ip C T 10: 116,743,008 (GRCm39) W439* probably null Het
Rasef T A 4: 73,659,208 (GRCm39) R435* probably null Het
Rnf103 C T 6: 71,485,708 (GRCm39) probably benign Het
Rtel1 T C 2: 180,991,765 (GRCm39) F388L probably benign Het
Sds A C 5: 120,621,784 (GRCm39) S309R possibly damaging Het
Sgip1 T A 4: 102,824,847 (GRCm39) D736E possibly damaging Het
Sgms2 A G 3: 131,118,611 (GRCm39) Y291H probably damaging Het
Sgsm3 A G 15: 80,895,661 (GRCm39) probably null Het
Sik2 G A 9: 50,828,382 (GRCm39) P220L probably damaging Het
Slc29a3 A G 10: 60,551,991 (GRCm39) V351A probably benign Het
Slc36a3 A G 11: 55,016,489 (GRCm39) S369P probably benign Het
Srgap1 A T 10: 121,640,919 (GRCm39) M649K probably damaging Het
Thnsl1 A G 2: 21,216,879 (GRCm39) E211G possibly damaging Het
Tmprss9 A G 10: 80,733,207 (GRCm39) probably null Het
Tpgs1 G A 10: 79,511,421 (GRCm39) V188M probably damaging Het
Vmn1r201 G T 13: 22,659,355 (GRCm39) V190F probably damaging Het
Vmn1r64 A T 7: 5,886,622 (GRCm39) L307Q possibly damaging Het
Wbp11 T C 6: 136,791,252 (GRCm39) probably benign Het
Wdr35 A G 12: 9,031,125 (GRCm39) Y134C probably damaging Het
Zan G T 5: 137,412,521 (GRCm39) C3263* probably null Het
Zc3h12c G T 9: 52,037,876 (GRCm39) D301E probably damaging Het
Zfp365 A C 10: 67,745,637 (GRCm39) L47R probably damaging Het
Zmym6 C T 4: 126,998,200 (GRCm39) P412L 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
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
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'- CCATATCATTTGTTGCTTGGCAG -3'
(R):5'- ATGGGCCAAGCACCACATTC -3'

Sequencing Primer
(F):5'- AGGTGTAGGCCCCAGAATCATTC -3'
(R):5'- ACATTCCCAGGGCCTCATG -3'
Posted On 2016-11-09