Incidental Mutation 'R1169:Siglec1'
ID101432
Institutional Source Beutler Lab
Gene Symbol Siglec1
Ensembl Gene ENSMUSG00000027322
Gene Namesialic acid binding Ig-like lectin 1, sialoadhesin
SynonymsSn, CD169, Siglec-1
MMRRC Submission 039242-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #R1169 (G1)
Quality Score209
Status Not validated
Chromosome2
Chromosomal Location131069220-131086765 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 131074827 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1169 (D1169E)
Ref Sequence ENSEMBL: ENSMUSP00000028794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028794] [ENSMUST00000110227]
Predicted Effect probably damaging
Transcript: ENSMUST00000028794
AA Change: D1169E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: D1169E

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: D1169E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: D1169E

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: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A G 2: 23,256,982 K275E possibly damaging Het
Abhd17a T C 10: 80,583,947 E275G probably damaging Het
Adam10 T A 9: 70,746,292 I123N probably damaging Het
Adam8 A T 7: 139,983,929 L715Q probably benign Het
Adcyap1r1 T A 6: 55,494,116 F418L probably damaging Het
Ankrd50 A T 3: 38,454,252 I1322K probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atxn7 T C 14: 14,095,468 S389P possibly damaging Het
C4b A T 17: 34,742,972 L100Q probably benign Het
Cacul1 G A 19: 60,580,408 A104V probably damaging Het
Camsap3 T C 8: 3,603,866 F512S probably damaging Het
Casp1 T C 9: 5,299,454 V61A possibly damaging Het
Chd1 T A 17: 15,735,732 F531Y probably damaging Het
Clec2h C T 6: 128,674,795 Q156* probably null Het
Clip2 T A 5: 134,492,250 E978V probably benign Het
Cnpy2 T G 10: 128,323,596 L34R probably damaging Het
Cog6 A T 3: 53,013,844 C114S probably benign Het
Col6a3 A T 1: 90,822,014 V366E possibly damaging Het
Col6a5 A G 9: 105,896,974 probably null Het
Dmbt1 G A 7: 131,074,524 probably null Het
Dok1 A G 6: 83,032,048 F218L possibly damaging Het
Dph7 T A 2: 24,966,571 N178K probably benign Het
Enam A T 5: 88,503,258 E800D probably damaging Het
Fads3 A T 19: 10,054,099 Q205L possibly damaging Het
Fbxo44 T C 4: 148,155,976 H265R probably benign Het
Gli1 T A 10: 127,338,451 S24C probably damaging Het
Gm4894 T A 9: 49,274,226 C43* probably null Het
Gpbp1l1 C T 4: 116,574,366 H74Y possibly damaging Het
H2-Eb2 T A 17: 34,333,357 F59I possibly damaging Het
Hspa14 T C 2: 3,498,124 N211S possibly damaging Het
Ifnlr1 T G 4: 135,705,108 F285C probably benign Het
Igf1r G T 7: 68,165,127 V259L probably benign Het
Igf2bp2 A T 16: 22,078,730 Y244* probably null Het
Ighg2c A T 12: 113,285,952 probably benign Het
Ighv8-14 A T 12: 115,808,455 probably null Het
Iqsec2 A G X: 152,144,731 S87G probably benign Het
Itsn2 A G 12: 4,639,694 K589R probably damaging Het
Khdc1a A C 1: 21,350,271 E38D possibly damaging Het
Krt42 T G 11: 100,263,345 probably null Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lpo T C 11: 87,817,317 N183S possibly damaging Het
Lrrc3 T A 10: 77,900,930 Y224F probably damaging Het
Ly6g6f T A 17: 35,083,264 D99V probably damaging Het
Lyplal1 T C 1: 186,114,334 I42V probably benign Het
Mis18bp1 G A 12: 65,143,283 Q793* probably null Het
Myh10 T G 11: 68,762,841 M346R probably damaging Het
Nav1 G T 1: 135,455,205 H1256Q probably damaging Het
Nbea A G 3: 55,968,323 V1642A probably benign Het
Olfr1066 A G 2: 86,455,587 I228T possibly damaging Het
Olfr1104 A G 2: 87,021,717 F276L probably damaging Het
Olfr1428 C T 19: 12,109,489 R19H probably benign Het
Olfr870 T C 9: 20,171,058 N171S probably benign Het
Orm3 G A 4: 63,357,848 V166M probably damaging Het
Oxct1 T A 15: 4,091,226 I264N probably damaging Het
Paox G A 7: 140,126,331 V55I probably benign Het
Pde4d C A 13: 109,950,928 probably null Het
Pnliprp1 A G 19: 58,734,951 N258S probably damaging Het
Prl7b1 C A 13: 27,606,904 R66L possibly damaging Het
Ptpre G T 7: 135,667,612 C261F probably benign Het
Rho C G 6: 115,932,238 N78K probably damaging Het
Rnf17 A G 14: 56,514,165 N1487D possibly damaging Het
Ryr3 G A 2: 112,733,014 T2922I probably benign Het
Saxo2 A C 7: 82,635,171 F160V possibly damaging Het
Sbf2 A T 7: 110,310,184 Y1786N probably benign Het
Sdad1 A T 5: 92,298,233 V280E probably benign Het
Sgsm1 T C 5: 113,279,485 D90G probably damaging Het
Sim1 T A 10: 50,981,522 V456E probably benign Het
Skint8 T A 4: 111,928,513 I52N possibly damaging Het
Slc27a1 C A 8: 71,580,653 R280S probably benign Het
Slc9a3 G A 13: 74,150,743 V94I probably damaging Het
Sorcs2 C A 5: 36,027,925 V936L possibly damaging Het
Syce1 A G 7: 140,778,207 F255S probably benign Het
Tmc7 G A 7: 118,551,260 S350L probably benign Het
Tmem200a T A 10: 25,994,348 I8F probably damaging Het
Trip6 T C 5: 137,311,920 H322R probably benign Het
Vmn2r72 A T 7: 85,751,309 N177K probably benign Het
Wdr66 GGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGA 5: 123,254,610 probably benign Het
Other mutations in Siglec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Siglec1 APN 2 131079325 missense probably benign 0.03
IGL01092:Siglec1 APN 2 131079217 missense probably damaging 1.00
IGL01115:Siglec1 APN 2 131074502 missense probably benign 0.01
IGL01324:Siglec1 APN 2 131085541 missense probably damaging 1.00
IGL01330:Siglec1 APN 2 131083536 missense probably damaging 1.00
IGL01330:Siglec1 APN 2 131075005 nonsense probably null
IGL01558:Siglec1 APN 2 131078499 missense probably damaging 0.96
IGL01632:Siglec1 APN 2 131083820 missense probably benign 0.03
IGL01768:Siglec1 APN 2 131074394 missense probably benign
IGL02399:Siglec1 APN 2 131071178 missense probably benign 0.16
IGL02558:Siglec1 APN 2 131074995 missense possibly damaging 0.88
IGL02794:Siglec1 APN 2 131075969 missense possibly damaging 0.86
IGL02839:Siglec1 APN 2 131084932 missense possibly damaging 0.82
K3955:Siglec1 UTSW 2 131081439 missense probably benign 0.00
P0038:Siglec1 UTSW 2 131081439 missense probably benign 0.00
PIT4576001:Siglec1 UTSW 2 131078161 missense probably damaging 1.00
PIT4677001:Siglec1 UTSW 2 131072757 missense probably damaging 1.00
R0003:Siglec1 UTSW 2 131075060 missense probably benign 0.00
R0048:Siglec1 UTSW 2 131073397 missense possibly damaging 0.65
R0048:Siglec1 UTSW 2 131073397 missense possibly damaging 0.65
R0243:Siglec1 UTSW 2 131085476 missense probably damaging 1.00
R0276:Siglec1 UTSW 2 131083941 nonsense probably null
R0379:Siglec1 UTSW 2 131074525 splice site probably benign
R0464:Siglec1 UTSW 2 131079359 missense probably damaging 1.00
R0507:Siglec1 UTSW 2 131074525 splice site probably benign
R0560:Siglec1 UTSW 2 131070346 missense probably benign 0.02
R0620:Siglec1 UTSW 2 131074268 missense probably benign 0.30
R0621:Siglec1 UTSW 2 131074268 missense probably benign 0.30
R0853:Siglec1 UTSW 2 131085022 missense probably damaging 0.98
R1079:Siglec1 UTSW 2 131079377 nonsense probably null
R1205:Siglec1 UTSW 2 131080464 missense possibly damaging 0.94
R1293:Siglec1 UTSW 2 131073531 missense probably benign 0.00
R1470:Siglec1 UTSW 2 131070387 missense probably benign 0.19
R1470:Siglec1 UTSW 2 131070387 missense probably benign 0.19
R1533:Siglec1 UTSW 2 131076158 missense probably benign
R1717:Siglec1 UTSW 2 131073956 missense possibly damaging 0.92
R1717:Siglec1 UTSW 2 131084012 missense probably damaging 1.00
R1744:Siglec1 UTSW 2 131081299 missense probably damaging 1.00
R1852:Siglec1 UTSW 2 131081500 missense probably damaging 0.98
R1941:Siglec1 UTSW 2 131078131 missense possibly damaging 0.94
R2011:Siglec1 UTSW 2 131083357 missense probably damaging 1.00
R2012:Siglec1 UTSW 2 131083357 missense probably damaging 1.00
R2128:Siglec1 UTSW 2 131080497 missense probably damaging 1.00
R2278:Siglec1 UTSW 2 131071337 missense probably benign 0.28
R2403:Siglec1 UTSW 2 131074475 missense possibly damaging 0.65
R2449:Siglec1 UTSW 2 131078725 missense probably benign 0.44
R2885:Siglec1 UTSW 2 131072747 missense possibly damaging 0.88
R4213:Siglec1 UTSW 2 131074118 missense probably damaging 1.00
R4274:Siglec1 UTSW 2 131085814 missense probably benign 0.00
R4679:Siglec1 UTSW 2 131073411 missense possibly damaging 0.87
R4715:Siglec1 UTSW 2 131074436 missense probably damaging 1.00
R4782:Siglec1 UTSW 2 131075923 missense probably damaging 1.00
R4896:Siglec1 UTSW 2 131069869 missense probably benign 0.21
R4993:Siglec1 UTSW 2 131073361 missense possibly damaging 0.93
R5004:Siglec1 UTSW 2 131069869 missense probably benign 0.21
R5004:Siglec1 UTSW 2 131073411 missense possibly damaging 0.87
R5105:Siglec1 UTSW 2 131080400 missense possibly damaging 0.69
R5137:Siglec1 UTSW 2 131081344 missense probably damaging 1.00
R5153:Siglec1 UTSW 2 131085577 missense probably damaging 0.99
R5311:Siglec1 UTSW 2 131079316 missense probably damaging 1.00
R5600:Siglec1 UTSW 2 131085583 missense probably benign 0.01
R5682:Siglec1 UTSW 2 131084010 missense probably damaging 1.00
R5732:Siglec1 UTSW 2 131074268 missense probably benign 0.30
R5870:Siglec1 UTSW 2 131072847 missense probably damaging 0.99
R5898:Siglec1 UTSW 2 131073633 missense probably damaging 1.00
R5909:Siglec1 UTSW 2 131077964 missense probably damaging 1.00
R6488:Siglec1 UTSW 2 131081307 missense probably damaging 0.99
R6920:Siglec1 UTSW 2 131078077 nonsense probably null
R7064:Siglec1 UTSW 2 131083914 missense probably benign 0.00
R7270:Siglec1 UTSW 2 131081551 missense possibly damaging 0.67
R7355:Siglec1 UTSW 2 131080451 missense probably benign 0.02
R7400:Siglec1 UTSW 2 131086095 missense possibly damaging 0.73
R7470:Siglec1 UTSW 2 131075824 missense probably benign 0.00
R7568:Siglec1 UTSW 2 131072682 missense probably damaging 1.00
R7781:Siglec1 UTSW 2 131081338 missense probably damaging 1.00
R7853:Siglec1 UTSW 2 131081292 missense probably damaging 1.00
R7999:Siglec1 UTSW 2 131071163 missense probably benign 0.28
R8191:Siglec1 UTSW 2 131085679 missense probably damaging 1.00
R8274:Siglec1 UTSW 2 131083910 missense probably benign
R8345:Siglec1 UTSW 2 131078578 missense possibly damaging 0.95
X0024:Siglec1 UTSW 2 131080491 missense probably damaging 1.00
Z1176:Siglec1 UTSW 2 131078745 missense probably damaging 0.99
Z1176:Siglec1 UTSW 2 131080524 missense possibly damaging 0.83
Predicted Primers
Posted On2014-01-15