Incidental Mutation 'R7355:Siglec1'
ID 570856
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 045441-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7355 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 130911140-130928685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130922371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 568 (L568Q)
Ref Sequence ENSEMBL: ENSMUSP00000028794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028794] [ENSMUST00000110226] [ENSMUST00000110227]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028794
AA Change: L568Q

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: L568Q

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 benign
Transcript: ENSMUST00000110226
SMART Domains Protein: ENSMUSP00000105855
Gene: ENSMUSG00000027322

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 32 142 2.92e-5 SMART
Pfam:C2-set_2 148 235 7.7e-18 PFAM
IGc2 260 319 8.78e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110227
AA Change: L568Q

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: L568Q

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 100% (72/72)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,486,621 (GRCm39) R1469W probably benign Het
Acad10 G T 5: 121,768,780 (GRCm39) Y728* probably null Het
Adamts17 T C 7: 66,725,052 (GRCm39) V160A Het
Astn1 A T 1: 158,491,846 (GRCm39) probably null Het
Atp8a2 T C 14: 60,282,453 (GRCm39) K104E possibly damaging Het
Axl T C 7: 25,473,531 (GRCm39) Y365C probably benign Het
Btbd16 A T 7: 130,423,173 (GRCm39) Y409F probably benign Het
Caln1 A T 5: 130,443,732 (GRCm39) T22S probably benign Het
Camk1 C A 6: 113,315,307 (GRCm39) G164C probably damaging Het
Cd96 T C 16: 45,861,655 (GRCm39) T512A possibly damaging Het
Ceacam5 A G 7: 17,481,312 (GRCm39) D353G probably damaging Het
Cep162 C A 9: 87,136,008 (GRCm39) E12* probably null Het
Cfh A T 1: 140,064,553 (GRCm39) V365E probably damaging Het
Chd7 A G 4: 8,752,196 (GRCm39) H231R unknown Het
Cntnap3 T C 13: 64,919,776 (GRCm39) T694A probably benign Het
Colq C A 14: 31,267,066 (GRCm39) G158V probably damaging Het
Ctif G A 18: 75,743,756 (GRCm39) H139Y probably damaging Het
D630003M21Rik A T 2: 158,042,144 (GRCm39) F934Y probably damaging Het
Dclre1a T A 19: 56,535,567 (GRCm39) T6S possibly damaging Het
Dnmbp T C 19: 43,890,180 (GRCm39) D529G probably benign Het
Fat2 T A 11: 55,147,377 (GRCm39) Q3955L probably benign Het
Gjd4 A G 18: 9,280,860 (GRCm39) S73P probably damaging Het
Gm19410 C A 8: 36,274,226 (GRCm39) Q1460K probably benign Het
Golga5 A T 12: 102,438,494 (GRCm39) I70F possibly damaging Het
Gon4l T A 3: 88,770,827 (GRCm39) I502N probably damaging Het
Gtf2ird2 C G 5: 134,245,491 (GRCm39) A583G probably benign Het
Hectd1 A C 12: 51,838,081 (GRCm39) W694G possibly damaging Het
Ifit1bl2 C T 19: 34,597,061 (GRCm39) G185D probably damaging Het
Igfbp6 G A 15: 102,056,375 (GRCm39) A145T probably benign Het
Junb C T 8: 85,705,013 (GRCm39) A16T probably benign Het
Kcnh4 C T 11: 100,643,269 (GRCm39) V333I possibly damaging Het
Ly6c1 T C 15: 74,919,256 (GRCm39) T45A possibly damaging Het
Mon2 T A 10: 122,845,421 (GRCm39) Q1428L probably benign Het
Nfatc2ip C T 7: 125,986,783 (GRCm39) probably null Het
Olfml3 C A 3: 103,643,395 (GRCm39) G329W probably damaging Het
Or10ag56 T C 2: 87,139,754 (GRCm39) V207A probably benign Het
Or10al2 A G 17: 37,983,301 (GRCm39) Y129C probably benign Het
Or6d15 T A 6: 116,559,916 (GRCm39) probably benign Het
Or9g3 C T 2: 85,584,023 (GRCm39) P106L probably benign Het
Pcsk7 A G 9: 45,820,672 (GRCm39) M35V probably benign Het
Phf14 A G 6: 12,081,006 (GRCm39) N921S probably benign Het
Pla2g4e G A 2: 120,011,982 (GRCm39) S396F possibly damaging Het
Ppp4r4 A T 12: 103,570,841 (GRCm39) K766* probably null Het
Pprc1 T C 19: 46,053,785 (GRCm39) V1105A unknown Het
Prdm9 T G 17: 15,765,497 (GRCm39) N428H probably benign Het
Prkcg C T 7: 3,372,025 (GRCm39) T497I possibly damaging Het
Prkcz A G 4: 155,441,953 (GRCm39) W60R probably damaging Het
Ptprn2 T C 12: 116,822,571 (GRCm39) F217L probably benign Het
Pum2 T A 12: 8,763,906 (GRCm39) Y283* probably null Het
Rest A G 5: 77,415,875 (GRCm39) M30V probably benign Het
Rfxank C T 8: 70,587,957 (GRCm39) R150H probably damaging Het
Ros1 T A 10: 52,042,175 (GRCm39) Q250L probably damaging Het
Sgk2 A G 2: 162,854,987 (GRCm39) D366G probably benign Het
Shoc1 T C 4: 59,076,155 (GRCm39) D596G probably benign Het
Slain1 AT ATT 14: 103,940,012 (GRCm39) probably null Het
Slc10a5 A T 3: 10,399,375 (GRCm39) Y428* probably null Het
Slc25a54 T C 3: 109,010,085 (GRCm39) W195R probably damaging Het
Slf1 A G 13: 77,239,422 (GRCm39) I414T probably damaging Het
Snx4 C T 16: 33,087,236 (GRCm39) P127L probably damaging Het
Spdl1 A T 11: 34,714,191 (GRCm39) L166H not run Het
Tapt1 C T 5: 44,334,459 (GRCm39) V511I probably benign Het
Tbata A G 10: 61,010,099 (GRCm39) probably benign Het
Tbx4 T A 11: 85,802,835 (GRCm39) V264E probably damaging Het
Tecta A T 9: 42,278,438 (GRCm39) Y1023* probably null Het
Thop1 A G 10: 80,911,465 (GRCm39) D117G probably damaging Het
Trip12 A G 1: 84,792,604 (GRCm39) L13P probably damaging Het
Tut7 T C 13: 59,969,616 (GRCm39) N93S probably benign Het
Unc13b T A 4: 43,237,754 (GRCm39) V637E probably damaging Het
Vinac1 G T 2: 128,879,149 (GRCm39) Q926K unknown Het
Yipf3 T A 17: 46,561,566 (GRCm39) M168K probably damaging Het
Zfp119a A T 17: 56,173,287 (GRCm39) C185* probably null Het
Zfyve21 A T 12: 111,791,485 (GRCm39) I157F possibly damaging Het
Zfyve26 A T 12: 79,286,828 (GRCm39) D2253E 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
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
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'- ACTAGATTCGTTGTTGTTTTGGCAA -3'
(R):5'- CACAAGTCTGTACTCTGTCCCTC -3'

Sequencing Primer
(F):5'- CTGGTCTGTAAAGCAAGTTCCAG -3'
(R):5'- TCCTCCAGTGGCCCGAC -3'
Posted On 2019-09-13