Incidental Mutation 'R7270:Siglec1'
ID 565211
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 045390-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R7270 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 130911140-130928685 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130923471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 425 (T425A)
Ref Sequence ENSEMBL: ENSMUSP00000028794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028794] [ENSMUST00000110226] [ENSMUST00000110227]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028794
AA Change: T425A

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: T425A

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: T425A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: T425A

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l A T 10: 42,301,245 (GRCm39) Y193N probably damaging Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Aimp1 T C 3: 132,382,772 (GRCm39) K44E probably damaging Het
Arid1b T A 17: 5,046,318 (GRCm39) Y369N unknown Het
Art5 A T 7: 101,747,080 (GRCm39) V233D probably damaging Het
Baz2b T A 2: 59,792,836 (GRCm39) N431Y possibly damaging Het
Bik T A 15: 83,428,364 (GRCm39) F131I possibly damaging Het
Bmpr1a A G 14: 34,163,082 (GRCm39) Y103H probably damaging Het
Cabp7 C T 11: 4,696,676 (GRCm39) V18M possibly damaging Het
Cacna1a C A 8: 85,297,866 (GRCm39) T1240N probably damaging Het
Cacna1h A G 17: 25,603,739 (GRCm39) V1311A probably damaging Het
Cbarp A C 10: 79,973,151 (GRCm39) S16A possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ces2b A T 8: 105,564,472 (GRCm39) H494L possibly damaging Het
Cfap43 T A 19: 47,728,224 (GRCm39) H1511L possibly damaging Het
Cfap54 A G 10: 92,675,320 (GRCm39) V2867A probably benign Het
Col5a1 C T 2: 27,887,597 (GRCm39) P956L unknown Het
Dcakd T G 11: 102,891,032 (GRCm39) Q19P possibly damaging Het
Ddx47 T A 6: 135,000,301 (GRCm39) D432E probably benign Het
Dhrs7b T C 11: 60,735,055 (GRCm39) F29L probably benign Het
Dis3l2 A T 1: 86,918,025 (GRCm39) D558V possibly damaging Het
Dtx3l T A 16: 35,754,027 (GRCm39) D193V probably damaging Het
Eif1ad12 T C 12: 87,541,663 (GRCm39) L58P probably damaging Het
Epha4 G A 1: 77,376,422 (GRCm39) R486C probably damaging Het
Fam186a T C 15: 99,842,033 (GRCm39) T1404A possibly damaging Het
Fat1 A G 8: 45,490,475 (GRCm39) T3796A probably damaging Het
Ffar2 A T 7: 30,518,929 (GRCm39) W204R probably benign Het
Ftmt A G 18: 52,465,091 (GRCm39) I136V probably benign Het
Gm10300 T C 4: 131,802,167 (GRCm39) W54R unknown Het
Gm10518 C T 1: 179,630,949 (GRCm39) P3L unknown Het
Grm2 G A 9: 106,528,257 (GRCm39) T209M probably damaging Het
Gtdc1 C T 2: 44,525,322 (GRCm39) M176I probably benign Het
Insrr T C 3: 87,710,440 (GRCm39) L382P probably damaging Het
Jade2 A G 11: 51,708,011 (GRCm39) V734A possibly damaging Het
Kcnh4 C T 11: 100,638,472 (GRCm39) R586H probably benign Het
Kdm1a A T 4: 136,279,838 (GRCm39) D721E probably damaging Het
Knl1 G A 2: 118,933,003 (GRCm39) C2054Y possibly damaging Het
Lrrk2 C T 15: 91,584,644 (GRCm39) P354S probably benign Het
Luzp2 A G 7: 54,724,774 (GRCm39) I112V probably damaging Het
Mgl2 T C 11: 70,026,506 (GRCm39) S105P probably damaging Het
Mocs1 T A 17: 49,756,143 (GRCm39) M200K possibly damaging Het
Oat T A 7: 132,168,927 (GRCm39) I98L probably benign Het
Obscn T C 11: 58,920,312 (GRCm39) Y8C Het
Or5b108 G A 19: 13,168,768 (GRCm39) V246I possibly damaging Het
Or6c1b T G 10: 129,273,319 (GRCm39) F213V probably benign Het
Pde1b T A 15: 103,430,082 (GRCm39) M137K possibly damaging Het
Phf21a T C 2: 92,157,484 (GRCm39) I204T probably damaging Het
Plcd4 A G 1: 74,593,838 (GRCm39) E321G possibly damaging Het
Plpp7 C T 2: 31,985,662 (GRCm39) probably benign Het
Prdm1 A G 10: 44,317,566 (GRCm39) I419T probably benign Het
Sec16b A T 1: 157,392,032 (GRCm39) R855W probably damaging Het
Sec16b G T 1: 157,392,033 (GRCm39) R855M probably damaging Het
Sec31b T C 19: 44,511,482 (GRCm39) T640A probably benign Het
Sirpd A T 3: 15,385,704 (GRCm39) I66N probably benign Het
Skil T C 3: 31,151,324 (GRCm39) probably benign Het
Slc1a5 G A 7: 16,519,623 (GRCm39) V200M probably damaging Het
Slc25a12 T C 2: 71,154,369 (GRCm39) H139R probably benign Het
Slc25a32 A T 15: 38,961,630 (GRCm39) V187D probably damaging Het
Slc35a3 G A 3: 116,505,455 (GRCm39) probably benign Het
Smap2 C A 4: 120,829,264 (GRCm39) M328I probably benign Het
Spef2 C T 15: 9,600,066 (GRCm39) probably null Het
Srarp A G 4: 141,160,389 (GRCm39) V148A possibly damaging Het
Stard9 T A 2: 120,464,755 (GRCm39) Y73* probably null Het
Tars1 A G 15: 11,392,105 (GRCm39) C236R probably benign Het
Tchh G C 3: 93,351,837 (GRCm39) D426H unknown Het
Tnks2 T C 19: 36,836,545 (GRCm39) F17S Het
Ube2g1 T C 11: 72,553,939 (GRCm39) I30T possibly damaging Het
Ube2o C T 11: 116,434,761 (GRCm39) D567N possibly damaging Het
Unc5b A T 10: 60,608,002 (GRCm39) Y710* probably null Het
Vmn1r215 T C 13: 23,260,089 (GRCm39) V43A possibly damaging Het
Xkr8 A G 4: 132,455,648 (GRCm39) F242L probably benign Het
Zfp526 T A 7: 24,925,345 (GRCm39) C535S 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
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'- AGCATGTGTACTCTCCGCTG -3'
(R):5'- TGCTCATCCAGAGGGTAAAGTG -3'

Sequencing Primer
(F):5'- CAAGTCTCGGATTTCTAGGCGC -3'
(R):5'- CTCATCCAGAGGGTAAAGTGTCTTC -3'
Posted On 2019-06-26