Incidental Mutation 'R9462:Siglec1'
ID 714906
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R9462 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 130911140-130928685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130916404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1182 (L1182P)
Ref Sequence ENSEMBL: ENSMUSP00000028794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028794] [ENSMUST00000110227]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028794
AA Change: L1182P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: L1182P

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: ENSMUST00000110227
AA Change: L1182P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: L1182P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,092,964 (GRCm39) T220I probably benign Het
Abca8b T A 11: 109,844,433 (GRCm39) H928L Het
Ahnak A T 19: 8,981,299 (GRCm39) D861V probably damaging Het
Ahnak2 C A 12: 112,750,655 (GRCm39) R89L Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Anks6 A G 4: 47,033,142 (GRCm39) L573P unknown Het
Ano5 T C 7: 51,235,200 (GRCm39) V711A probably benign Het
Arl2bp C A 8: 95,398,755 (GRCm39) A120D probably damaging Het
Asap1 A G 15: 64,038,328 (GRCm39) Y223H probably damaging Het
Atp7b A T 8: 22,490,160 (GRCm39) M1151K probably damaging Het
B4galnt3 A T 6: 120,271,438 (GRCm39) L28Q probably null Het
Ccdc39 T C 3: 33,868,519 (GRCm39) K856E probably benign Het
Ccr9 A G 9: 123,608,600 (GRCm39) D94G probably damaging Het
Cdan1 A G 2: 120,560,060 (GRCm39) I368T possibly damaging Het
Cdhr17 G T 5: 17,027,213 (GRCm39) A379S Het
Cfap54 T C 10: 92,737,920 (GRCm39) Q2326R unknown Het
Chrm3 T C 13: 9,927,437 (GRCm39) Y533C Het
Ckap4 C T 10: 84,363,924 (GRCm39) E380K possibly damaging Het
Cntnap2 T C 6: 46,211,217 (GRCm39) F544L probably damaging Het
Cwh43 A G 5: 73,591,695 (GRCm39) K596R probably benign Het
Cyp26c1 A G 19: 37,681,634 (GRCm39) E479G probably damaging Het
Deup1 A G 9: 15,493,882 (GRCm39) V420A probably benign Het
Dnah3 A G 7: 119,551,523 (GRCm39) V2932A probably benign Het
Dthd1 G A 5: 63,039,626 (GRCm39) R676H probably benign Het
Eef1e1 A G 13: 38,838,997 (GRCm39) L120P probably damaging Het
Elane T C 10: 79,723,883 (GRCm39) S244P probably benign Het
Esp6 A G 17: 40,876,315 (GRCm39) E121G probably benign Het
Eya1 T C 1: 14,299,775 (GRCm39) E326G probably damaging Het
Fut2 G T 7: 45,300,492 (GRCm39) N93K probably damaging Het
Garin5b A G 7: 4,761,330 (GRCm39) S461P Het
Gm12695 A G 4: 96,651,075 (GRCm39) V126A probably benign Het
Gucy2g A G 19: 55,221,469 (GRCm39) probably null Het
Hbs1l T C 10: 21,218,304 (GRCm39) V267A probably damaging Het
Hsd17b1 A T 11: 100,969,806 (GRCm39) N106I possibly damaging Het
Ino80d G A 1: 63,097,393 (GRCm39) L939F probably damaging Het
Lilra6 A G 7: 3,914,994 (GRCm39) W505R probably damaging Het
Map3k14 T A 11: 103,118,360 (GRCm39) K609* probably null Het
Mark1 T A 1: 184,651,868 (GRCm39) K212N probably damaging Het
Muc5b T A 7: 141,415,216 (GRCm39) C2721S Het
Myh4 A G 11: 67,141,811 (GRCm39) D890G possibly damaging Het
Mylk2 T G 2: 152,761,373 (GRCm39) L492R probably damaging Het
Myt1 T A 2: 181,467,729 (GRCm39) Y1134* probably null Het
N4bp2 G A 5: 65,947,898 (GRCm39) G176D probably benign Het
Ncstn A C 1: 171,899,707 (GRCm39) M325R probably damaging Het
Ndor1 C T 2: 25,144,875 (GRCm39) probably null Het
Notch4 G A 17: 34,806,667 (GRCm39) R1868H probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or2b2b A T 13: 21,859,015 (GRCm39) V33E probably benign Het
Or8s16 T A 15: 98,211,186 (GRCm39) N82Y possibly damaging Het
Oxct2a G T 4: 123,216,441 (GRCm39) D313E probably damaging Het
Pcdha2 T A 18: 37,073,546 (GRCm39) H392Q probably benign Het
Pcdhb20 T G 18: 37,639,799 (GRCm39) L775R probably benign Het
Pclo A G 5: 14,840,408 (GRCm39) D1449G Het
Pcx A G 19: 4,651,970 (GRCm39) T73A probably benign Het
Pou6f2 A G 13: 18,314,189 (GRCm39) S395P probably benign Het
Prss35 C G 9: 86,638,392 (GRCm39) I387M Het
Radil C A 5: 142,471,220 (GRCm39) D1019Y probably damaging Het
Rnf40 G T 7: 127,191,010 (GRCm39) probably null Het
Scarb1 A T 5: 125,417,891 (GRCm39) L19Q probably damaging Het
Scn8a T A 15: 100,930,159 (GRCm39) F1457I Het
Sdk2 C T 11: 113,760,744 (GRCm39) V339I possibly damaging Het
Slc4a4 G A 5: 89,194,131 (GRCm39) V204I probably damaging Het
Sp9 T C 2: 73,104,243 (GRCm39) S266P probably benign Het
Spata21 A G 4: 140,831,316 (GRCm39) E421G probably damaging Het
Sulf1 C T 1: 12,929,459 (GRCm39) P242L probably damaging Het
Sval3 G A 6: 41,945,105 (GRCm39) G11E possibly damaging Het
Tecta T A 9: 42,248,576 (GRCm39) Y1942F probably damaging Het
Thbs2 C T 17: 14,890,243 (GRCm39) G1121D probably damaging Het
Thrap3 G T 4: 126,070,048 (GRCm39) S613* probably null Het
Ttc34 A C 4: 154,942,539 (GRCm39) K59Q probably damaging Het
Tut7 A T 13: 59,929,957 (GRCm39) L1428H possibly damaging Het
Ube4b A T 4: 149,444,748 (GRCm39) L504Q probably damaging Het
Uncx A T 5: 139,529,771 (GRCm39) E8V probably damaging Het
Vmn1r79 A T 7: 11,910,261 (GRCm39) I48F probably damaging Het
Vmn2r99 C A 17: 19,598,388 (GRCm39) Y137* probably null Het
Zfp354b G A 11: 50,814,523 (GRCm39) T134I probably benign Het
Zfp618 G A 4: 63,051,510 (GRCm39) V764I possibly damaging Het
Zfp873 T G 10: 81,897,131 (GRCm39) C621G 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
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
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
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'- AAGTTCCAGGGACGTGTTGG -3'
(R):5'- TTTTAGGCAGAGGAGGATCCCTG -3'

Sequencing Primer
(F):5'- GCTATAGAGCCCCTCATTACTAGG -3'
(R):5'- AGGAGGATCCCTGCATGTAGTG -3'
Posted On 2022-06-15