Incidental Mutation 'R5898:Siglec1'
ID 501631
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 044097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5898 (G1)
Quality Score 147
Status Validated
Chromosome 2
Chromosomal Location 130911140-130928685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130915553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1346 (Y1346F)
Ref Sequence ENSEMBL: ENSMUSP00000105856 (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: Y1346F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: Y1346F

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: Y1346F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: Y1346F

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 0.1745 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (86/90)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G T 10: 100,448,762 (GRCm39) R158L possibly damaging Het
1700017N19Rik G A 10: 100,451,070 (GRCm39) M179I probably benign Het
Abhd12 T C 2: 150,681,698 (GRCm39) I231V possibly damaging Het
Adsl A G 15: 80,845,554 (GRCm39) probably null Het
Ahnak C A 19: 8,991,131 (GRCm39) N4138K possibly damaging Het
Ahnak T C 19: 8,995,575 (GRCm39) S5620P probably damaging Het
Akap13 C T 7: 75,378,894 (GRCm39) T2145I probably damaging Het
Alpk2 T A 18: 65,440,694 (GRCm39) Q700L probably damaging Het
Apobec1 T C 6: 122,557,732 (GRCm39) Y159C probably damaging Het
Atg9a T C 1: 75,162,916 (GRCm39) T395A probably damaging Het
Atp6v1f A G 6: 29,467,957 (GRCm39) I48V probably benign Het
BC051665 A C 13: 60,930,518 (GRCm39) V278G probably damaging Het
Bicd1 A T 6: 149,415,201 (GRCm39) H638L probably damaging Het
Cacna2d4 A G 6: 119,251,192 (GRCm39) Y460C probably damaging Het
Ccdc157 C A 11: 4,094,538 (GRCm39) R496L probably benign Het
Cdcp3 T G 7: 130,843,696 (GRCm39) probably null Het
Cep44 C G 8: 56,994,056 (GRCm39) V174L probably damaging Het
Clca3a1 G T 3: 144,722,522 (GRCm39) F283L possibly damaging Het
Csk T C 9: 57,537,585 (GRCm39) T110A probably benign Het
Cspg4 T A 9: 56,792,506 (GRCm39) probably null Het
Cutc A G 19: 43,748,468 (GRCm39) I124V probably benign Het
Cyp2d9 A G 15: 82,339,725 (GRCm39) T104A probably benign Het
Cyp2j9 G T 4: 96,465,951 (GRCm39) T294K probably benign Het
D630003M21Rik T A 2: 158,046,577 (GRCm39) probably null Het
Dcaf15 G T 8: 84,825,081 (GRCm39) F450L probably damaging Het
Ddhd1 A T 14: 45,840,125 (GRCm39) I723K probably damaging Het
Dnah17 C T 11: 118,005,039 (GRCm39) A782T probably benign Het
Dnah3 T C 7: 119,677,724 (GRCm39) D399G probably benign Het
Dync2h1 T C 9: 7,148,717 (GRCm39) N909S probably benign Het
Erbin A G 13: 103,975,813 (GRCm39) probably null Het
Fanci G A 7: 79,083,069 (GRCm39) V682I probably benign Het
Fap A T 2: 62,403,847 (GRCm39) F9L probably benign Het
Fat3 T C 9: 15,849,757 (GRCm39) I3882V probably benign Het
Fkbp15 A T 4: 62,244,294 (GRCm39) probably null Het
Fsd2 T C 7: 81,186,975 (GRCm39) Y601C probably damaging Het
Gm5900 T C 7: 104,599,468 (GRCm39) noncoding transcript Het
Gramd4 G T 15: 85,984,985 (GRCm39) G82V probably damaging Het
Hc C T 2: 34,887,449 (GRCm39) V1352I probably benign Het
Hsph1 A T 5: 149,548,623 (GRCm39) N466K probably damaging Het
Ice2 T A 9: 69,315,544 (GRCm39) D133E probably benign Het
Ifi213 T C 1: 173,396,545 (GRCm39) M510V probably benign Het
Itpkb T G 1: 180,248,880 (GRCm39) L861R probably damaging Het
Kbtbd3 T A 9: 4,330,476 (GRCm39) D283E probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Masp1 T A 16: 23,310,677 (GRCm39) I252F probably damaging Het
Megf11 G T 9: 64,593,246 (GRCm39) C586F probably damaging Het
Myh2 C A 11: 67,083,545 (GRCm39) A1476E possibly damaging Het
Myo18b A T 5: 112,950,196 (GRCm39) probably null Het
Naip6 A T 13: 100,435,829 (GRCm39) V898E possibly damaging Het
Nav1 T C 1: 135,512,884 (GRCm39) M59V probably benign Het
Nlrp3 A T 11: 59,437,678 (GRCm39) Y119F probably benign Het
Oxa1l T A 14: 54,600,758 (GRCm39) I77N possibly damaging Het
Pcdhb8 T A 18: 37,490,537 (GRCm39) D738E possibly damaging Het
Pdia5 A T 16: 35,243,335 (GRCm39) W269R probably damaging Het
Peak1 T A 9: 56,114,622 (GRCm39) T1440S probably benign Het
Piezo1 A G 8: 123,214,682 (GRCm39) V1547A probably benign Het
Pkp1 T C 1: 135,810,259 (GRCm39) Y437C probably damaging Het
Pla2r1 T C 2: 60,253,104 (GRCm39) D1329G probably damaging Het
Ppip5k2 T C 1: 97,671,887 (GRCm39) probably benign Het
Prrg4 C T 2: 104,675,378 (GRCm39) S75N probably benign Het
Psmb9 T A 17: 34,401,266 (GRCm39) I198F probably damaging Het
Rcbtb2 T A 14: 73,399,405 (GRCm39) L23* probably null Het
Sbno1 A T 5: 124,524,854 (GRCm39) probably benign Het
Scn3a T C 2: 65,345,039 (GRCm39) E483G probably damaging Het
Sdccag8 T A 1: 176,652,388 (GRCm39) D46E probably benign Het
Selenov A G 7: 27,987,579 (GRCm39) F293L probably damaging Het
Septin2 A C 1: 93,407,023 (GRCm39) D20A probably benign Het
Shc1 T A 3: 89,334,274 (GRCm39) Y313* probably null Het
Slc22a5 T A 11: 53,764,559 (GRCm39) I296F probably damaging Het
Slc9c1 A G 16: 45,365,123 (GRCm39) N152S probably damaging Het
Smoc1 C T 12: 81,151,531 (GRCm39) R83* probably null Het
Ssx2ip A G 3: 146,133,586 (GRCm39) D227G possibly damaging Het
Tbrg4 T C 11: 6,567,372 (GRCm39) D576G probably damaging Het
Tbx20 T A 9: 24,670,155 (GRCm39) Y226F probably damaging Het
Trav10d G T 14: 53,048,929 (GRCm39) A107S probably damaging Het
Trim60 A T 8: 65,453,016 (GRCm39) L411* probably null Het
Ttbk2 A T 2: 120,575,521 (GRCm39) V1083D probably benign Het
Unc93a T A 17: 13,344,464 (GRCm39) Q26L probably damaging Het
Usp14 T A 18: 10,022,819 (GRCm39) N65I possibly damaging Het
Vip A T 10: 5,593,988 (GRCm39) S114C probably damaging Het
Vmn1r237 A T 17: 21,534,813 (GRCm39) I179F probably damaging Het
Wdr47 T A 3: 108,545,201 (GRCm39) probably null Het
Zfp975 A T 7: 42,311,963 (GRCm39) C217S 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
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
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'- TGTTGCCATCACCCAGAGTC -3'
(R):5'- TAGCCATGAAGGTGGAGACC -3'

Sequencing Primer
(F):5'- CATCTTGCACTTGTAGTCGAAGAGC -3'
(R):5'- TGGAGACCAGGAACACTGCC -3'
Posted On 2017-12-01