Incidental Mutation 'R5870:Siglec1'
ID 455101
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 044078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5870 (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 130914767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1450 (R1450C)
Ref Sequence ENSEMBL: ENSMUSP00000105856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028794] [ENSMUST00000110227]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028794
AA Change: R1450C

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: R1450C

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: R1450C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: R1450C

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 0.2457 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 93% (84/90)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,236,232 (GRCm39) V156A probably damaging Het
Ak6 C A 13: 100,791,932 (GRCm39) P125Q probably damaging Het
Aqp4 A C 18: 15,532,946 (GRCm39) V49G probably damaging Het
Arfgef1 A G 1: 10,251,163 (GRCm39) I874T probably damaging Het
Arid1a T C 4: 133,408,387 (GRCm39) D2040G unknown Het
Atp1a3 T G 7: 24,697,003 (GRCm39) D220A probably benign Het
C2cd4c A T 10: 79,448,043 (GRCm39) I368N possibly damaging Het
Ccnt1 G A 15: 98,441,394 (GRCm39) Q625* probably null Het
Cd177 T A 7: 24,455,757 (GRCm39) H255L probably benign Het
Cdipt G A 7: 126,578,094 (GRCm39) V114M probably benign Het
Coro1b T A 19: 4,199,384 (GRCm39) H14Q probably damaging Het
Ctdp1 T A 18: 80,451,901 (GRCm39) D158V unknown Het
Cts7 A T 13: 61,503,545 (GRCm39) S140T probably damaging Het
Dlgap3 T A 4: 127,089,502 (GRCm39) L366* probably null Het
Dnah9 C T 11: 65,976,036 (GRCm39) A1338T probably benign Het
Dock7 T C 4: 98,952,199 (GRCm39) I424V probably benign Het
Dock8 G T 19: 25,109,490 (GRCm39) A891S probably benign Het
Dync2i1 A G 12: 116,219,865 (GRCm39) S26P possibly damaging Het
Elmod3 A G 6: 72,571,721 (GRCm39) probably null Het
Eps15 G A 4: 109,218,507 (GRCm39) E107K probably damaging Het
Esco1 A T 18: 10,593,744 (GRCm39) probably null Het
Fuz A G 7: 44,549,742 (GRCm39) T407A probably damaging Het
Galr1 A T 18: 82,424,197 (GRCm39) F27I probably benign Het
Glt1d1 A G 5: 127,754,344 (GRCm39) Y182C probably damaging Het
Gm37240 A T 3: 84,597,828 (GRCm39) probably benign Het
Gm37610 A G 6: 41,061,848 (GRCm39) noncoding transcript Het
Gm6658 G T 8: 91,635,020 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,789 (GRCm39) T74A possibly damaging Het
Hadha G A 5: 30,349,284 (GRCm39) S109F possibly damaging Het
Herc3 A T 6: 58,893,435 (GRCm39) Q899L probably benign Het
Ift172 C T 5: 31,434,284 (GRCm39) E485K probably benign Het
Lrrc8e A G 8: 4,285,725 (GRCm39) K650R possibly damaging Het
Ly6d A T 15: 74,635,381 (GRCm39) V10D possibly damaging Het
Med27 A G 2: 29,279,823 (GRCm39) probably null Het
Med29 A T 7: 28,091,922 (GRCm39) V56E probably damaging Het
Mobp A G 9: 119,996,919 (GRCm39) K17E probably damaging Het
Mrpl37 G A 4: 106,923,919 (GRCm39) T25I probably benign Het
Myh1 A G 11: 67,092,805 (GRCm39) D33G possibly damaging Het
Nrg3 T A 14: 39,194,586 (GRCm39) I58F possibly damaging Het
Or52e2 A G 7: 102,804,948 (GRCm39) I2T probably benign Het
Or7e176 A G 9: 20,171,874 (GRCm39) D246G probably benign Het
Padi1 T A 4: 140,553,892 (GRCm39) D359V probably benign Het
Pcdh7 T C 5: 57,877,753 (GRCm39) V436A possibly damaging Het
Pgm3 C A 9: 86,452,414 (GRCm39) K15N probably damaging Het
Phip A T 9: 82,790,730 (GRCm39) probably benign Het
Pot1a G A 6: 25,778,950 (GRCm39) T48I possibly damaging Het
Ppic T C 18: 53,542,333 (GRCm39) K125R probably benign Het
Ppm1j T C 3: 104,692,811 (GRCm39) V440A possibly damaging Het
Prg4 T A 1: 150,331,300 (GRCm39) K458* probably null Het
Rd3 A T 1: 191,717,261 (GRCm39) M244L probably benign Het
Rflnb A G 11: 75,912,864 (GRCm39) Y175H probably benign Het
Rnf157 T A 11: 116,237,900 (GRCm39) S574C probably benign Het
Sardh A G 2: 27,110,653 (GRCm39) probably null Het
Senp3 C T 11: 69,569,048 (GRCm39) probably null Het
Sim2 A G 16: 93,924,193 (GRCm39) H446R probably damaging Het
Spon1 T C 7: 113,631,021 (GRCm39) I444T probably damaging Het
Srebf1 T A 11: 60,094,410 (GRCm39) Q568H possibly damaging Het
Stxbp4 A T 11: 90,428,782 (GRCm39) I441N possibly damaging Het
Sugt1 G A 14: 79,846,451 (GRCm39) V163I probably benign Het
Surf1 G T 2: 26,806,271 (GRCm39) probably benign Het
Synj2 A G 17: 6,088,128 (GRCm39) E1348G probably benign Het
Tc2n A T 12: 101,619,111 (GRCm39) V349D probably damaging Het
Ten1 A G 11: 116,105,751 (GRCm39) R112G possibly damaging Het
Tm9sf4 A G 2: 153,036,201 (GRCm39) D321G probably damaging Het
Ttll12 A T 15: 83,461,237 (GRCm39) M594K probably damaging Het
Ttn T A 2: 76,703,058 (GRCm39) probably benign Het
Usp28 C T 9: 48,937,285 (GRCm39) Q185* probably null Het
Vmn2r112 A G 17: 22,838,004 (GRCm39) I822V probably benign Het
Zc3hc1 A T 6: 30,382,682 (GRCm39) L88* probably null Het
Zfr T A 15: 12,160,701 (GRCm39) V758D probably damaging Het
Zfyve27 T G 19: 42,160,110 (GRCm39) L42R 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
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'- ACACGGAGCATAACTGGAGC -3'
(R):5'- GCCTTCTCTGATTCTGGAGG -3'

Sequencing Primer
(F):5'- AGATCAGCCCTGCAGTGGTAC -3'
(R):5'- CTCTGATTCTGGAGGCAGAGC -3'
Posted On 2017-02-10