Incidental Mutation 'R5004:Siglec1'
ID 390027
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 042597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5004 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130911140-130928685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130915331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1420 (L1420Q)
Ref Sequence ENSEMBL: ENSMUSP00000105856 (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: L1420Q

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: L1420Q

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 possibly damaging
Transcript: ENSMUST00000110227
AA Change: L1420Q

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: L1420Q

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik A C 8: 13,605,927 (GRCm39) D189E possibly damaging Het
Abca5 C T 11: 110,170,202 (GRCm39) E1298K probably damaging Het
Actg1 C A 11: 120,238,986 (GRCm39) probably benign Het
Add2 A G 6: 86,073,728 (GRCm39) T206A probably benign Het
Alox12e A G 11: 70,212,330 (GRCm39) V116A probably benign Het
Ankrd27 T A 7: 35,307,800 (GRCm39) D346E probably damaging Het
Arfgap3 T A 15: 83,194,497 (GRCm39) S391C possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Cars2 C T 8: 11,568,956 (GRCm39) probably null Het
Cav3 A G 6: 112,436,885 (GRCm39) K38R probably damaging Het
Ccdc159 G A 9: 21,844,241 (GRCm39) R101H probably damaging Het
Cops7b A G 1: 86,515,132 (GRCm39) probably benign Het
Cyp4a12b C T 4: 115,295,310 (GRCm39) T472I probably benign Het
Cyp4a32 T C 4: 115,458,238 (GRCm39) S23P probably damaging Het
Cyp4f13 T G 17: 33,144,760 (GRCm39) I275L probably benign Het
Dlgap1 T A 17: 71,025,222 (GRCm39) probably null Het
Dnajc12 A T 10: 63,222,486 (GRCm39) I4L probably benign Het
Ephb2 T A 4: 136,387,010 (GRCm39) D739V possibly damaging Het
Fam169a A G 13: 97,234,100 (GRCm39) Y124C probably damaging Het
Fbln5 T A 12: 101,727,080 (GRCm39) N303I probably damaging Het
Fdxr T C 11: 115,160,399 (GRCm39) E352G probably benign Het
Fhad1 T G 4: 141,729,910 (GRCm39) probably null Het
Fhod1 C T 8: 106,063,577 (GRCm39) probably benign Het
Fndc7 G A 3: 108,790,789 (GRCm39) T79M probably damaging Het
Fry A G 5: 150,357,069 (GRCm39) Q1872R probably benign Het
Gbx1 T C 5: 24,709,837 (GRCm39) H336R probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gpr15lg A T 14: 36,824,622 (GRCm39) C60S probably damaging Het
Hacl1 C A 14: 31,340,996 (GRCm39) C346F probably benign Het
Hectd4 C A 5: 121,466,262 (GRCm39) probably null Het
Hectd4 C T 5: 121,467,628 (GRCm39) P2526S possibly damaging Het
Il3ra A T 14: 14,355,381 (GRCm38) E289D probably benign Het
Itih4 T G 14: 30,614,629 (GRCm39) L497R probably damaging Het
Kcnh3 A T 15: 99,124,383 (GRCm39) K91* probably null Het
Kiz C G 2: 146,811,899 (GRCm39) D669E possibly damaging Het
Klhl30 T A 1: 91,287,046 (GRCm39) probably null Het
Kndc1 C A 7: 139,512,792 (GRCm39) C1514* probably null Het
Lipo2 A G 19: 33,699,076 (GRCm39) probably null Het
Macf1 T C 4: 123,279,268 (GRCm39) D5921G probably damaging Het
Mau2 A G 8: 70,478,537 (GRCm39) Y394H probably damaging Het
Mctp1 T A 13: 76,789,923 (GRCm39) S50R possibly damaging Het
Mllt10 T C 2: 18,175,079 (GRCm39) Y3H probably damaging Het
Mon1b T C 8: 114,365,859 (GRCm39) S396P probably damaging Het
Mrgpra4 A C 7: 47,631,535 (GRCm39) L22R probably benign Het
Msln T G 17: 25,973,193 (GRCm39) M1L possibly damaging Het
Myh15 T A 16: 48,952,411 (GRCm39) I827N probably damaging Het
Myh7 T C 14: 55,209,140 (GRCm39) D1866G probably damaging Het
Myo5b T G 18: 74,877,844 (GRCm39) probably null Het
Nlrc5 T G 8: 95,247,844 (GRCm39) probably benign Het
Nup210l A T 3: 90,087,472 (GRCm39) R1082* probably null 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
Or5p63 T A 7: 107,811,323 (GRCm39) K138* probably null Het
Or7e169 T C 9: 19,757,398 (GRCm39) I172M probably benign Het
Pi4ka A T 16: 17,195,033 (GRCm39) C122S probably damaging Het
Pkd2l1 G T 19: 44,138,016 (GRCm39) A690E probably benign Het
Pramel22 T C 4: 143,380,706 (GRCm39) Q439R probably benign Het
Prickle2 A T 6: 92,393,736 (GRCm39) D312E probably benign Het
Prrc2a T A 17: 35,368,974 (GRCm39) N2021Y probably benign Het
Prss3 T C 6: 41,350,836 (GRCm39) Y218C probably damaging Het
Psg20 T C 7: 18,414,837 (GRCm39) T350A probably damaging Het
Ptprg A T 14: 12,220,667 (GRCm38) I1235F probably damaging Het
Ptprk T A 10: 28,462,059 (GRCm39) D1181E possibly damaging Het
Rcc2 T A 4: 140,444,977 (GRCm39) S415T possibly damaging Het
Ripor1 CAA CA 8: 106,345,452 (GRCm39) probably null Het
Rnf31 T C 14: 55,829,639 (GRCm39) L68P probably damaging Het
Rsph6a A T 7: 18,791,665 (GRCm39) E278V possibly damaging Het
Rubcnl C T 14: 75,269,617 (GRCm39) Q92* probably null Het
Scfd1 A G 12: 51,491,777 (GRCm39) R580G probably benign Het
Sec31a A T 5: 100,516,192 (GRCm39) N967K probably damaging Het
Sema4b C A 7: 79,866,093 (GRCm39) T154N probably benign Het
Septin14 T A 5: 129,770,040 (GRCm39) I219F possibly damaging Het
Serpinb9c A T 13: 33,334,338 (GRCm39) S235T probably benign Het
Setd4 G T 16: 93,388,133 (GRCm39) H118N probably benign Het
Soat2 T A 15: 102,069,546 (GRCm39) H402Q probably damaging Het
Sp3 A T 2: 72,768,633 (GRCm39) V666D probably benign Het
Spef2 T G 15: 9,578,413 (GRCm39) S1704R probably benign Het
Spidr A T 16: 15,936,806 (GRCm39) W100R possibly damaging Het
Steap1 G T 5: 5,792,829 (GRCm39) Y27* probably null Het
Svep1 G T 4: 58,087,751 (GRCm39) T1776K probably benign Het
Tdpoz1 T A 3: 93,578,440 (GRCm39) T115S probably benign Het
Tet2 A T 3: 133,193,140 (GRCm39) H431Q possibly damaging Het
Tnrc6c T G 11: 117,611,872 (GRCm39) V170G probably benign Het
Tom1 T C 8: 75,778,630 (GRCm39) L99P probably damaging Het
Trim11 C A 11: 58,872,164 (GRCm39) probably benign Het
Trio T C 15: 27,755,264 (GRCm39) K955R probably damaging Het
Tubd1 C T 11: 86,452,146 (GRCm39) T371I probably damaging Het
Usp17lb C T 7: 104,490,884 (GRCm39) M13I probably benign Het
Usp29 A G 7: 6,965,158 (GRCm39) M334V probably benign Het
Usp34 A G 11: 23,414,586 (GRCm39) Y2843C probably damaging Het
Utp20 A T 10: 88,584,135 (GRCm39) I2674N probably damaging 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
Vmn2r51 T A 7: 9,821,932 (GRCm39) E584D probably benign Het
Zbtb22 G T 17: 34,136,217 (GRCm39) A121S probably benign Het
Zfp273 A T 13: 67,973,673 (GRCm39) H267L probably damaging Het
Zkscan2 C T 7: 123,089,267 (GRCm39) V335M 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 2 130,911,789 (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'- ACTGAGAGCCATGCCTTCTTAAG -3'
(R):5'- CATGGTCGTGATTCAGTGCAC -3'

Sequencing Primer
(F):5'- CCATGCCTTCTTAAGCAGATTAGGG -3'
(R):5'- TGATTCAGTGCACCGTGGAC -3'
Posted On 2016-06-06