Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01092:Siglec1'

50475

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Siglec1

Ensembl Gene

ENSMUSG00000027322

Gene Name

sialic acid binding Ig-like lectin 1, sialoadhesin

Synonyms

Sn, CD169, Siglec-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01092

Quality Score

Status

Chromosome

Chromosomal Location

130911140-130928685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130921137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 678 (I678N)

Ref Sequence

ENSEMBL: ENSMUSP00000105856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028794] [ENSMUST00000110226] [ENSMUST00000110227]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000028794
AA Change: I678N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: I678N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000110227
AA Change: I678N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: I678N

Domain	Start	End	E-Value	Type
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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,229,371 (GRCm39)	R335G	probably damaging	Het
Atad2b	C	T	12: 5,067,987 (GRCm39)	S995L	probably damaging	Het
Atrn	A	T	2: 130,789,556 (GRCm39)	R340*	probably null	Het
Ccdc83	A	T	7: 89,896,313 (GRCm39)	D85E	probably benign	Het
Chd2	A	T	7: 73,091,434 (GRCm39)	H1602Q	possibly damaging	Het
Cog2	A	G	8: 125,272,019 (GRCm39)	D511G	probably damaging	Het
Col4a4	G	T	1: 82,444,266 (GRCm39)	P1334T	unknown	Het
Creb3l4	T	C	3: 90,145,045 (GRCm39)	E369G	probably damaging	Het
Crnkl1	T	C	2: 145,761,868 (GRCm39)	K563R	probably benign	Het
Dbi	T	C	1: 120,041,207 (GRCm39)	K131E	probably benign	Het
Edn1	A	G	13: 42,457,147 (GRCm39)	D60G	probably damaging	Het
Erbin	T	C	13: 103,970,520 (GRCm39)	N1032S	probably damaging	Het
Ero1a	T	C	14: 45,541,043 (GRCm39)	D107G	probably benign	Het
Glmn	A	T	5: 107,726,378 (GRCm39)		probably null	Het
Grxcr1	T	C	5: 68,267,905 (GRCm39)		probably benign	Het
Itih3	T	A	14: 30,631,738 (GRCm39)	K593I	probably damaging	Het
Kmt2b	T	C	7: 30,279,932 (GRCm39)	Y1356C	probably damaging	Het
Lrp1b	C	T	2: 40,640,959 (GRCm39)	C3495Y	probably damaging	Het
Map3k13	A	T	16: 21,746,766 (GRCm39)	T950S	probably damaging	Het
Me1	A	T	9: 86,480,801 (GRCm39)	V348D	probably damaging	Het
Morc2a	T	C	11: 3,634,042 (GRCm39)	V718A	probably benign	Het
Myh7	T	C	14: 55,209,089 (GRCm39)	E1883G	possibly damaging	Het
Or10ak14	T	A	4: 118,610,959 (GRCm39)	I259F	possibly damaging	Het
Or8b49	T	G	9: 38,506,201 (GRCm39)	I228R	probably damaging	Het
Pdcd6ip	A	G	9: 113,509,249 (GRCm39)		probably benign	Het
Plcb3	T	A	19: 6,932,690 (GRCm39)	E1025V	probably benign	Het
Ppp1r26	C	T	2: 28,343,872 (GRCm39)		probably benign	Het
Prkd1	T	C	12: 50,430,298 (GRCm39)		probably benign	Het
Rwdd4a	C	T	8: 47,997,147 (GRCm39)	T122M	possibly damaging	Het
Sdhb	T	G	4: 140,704,791 (GRCm39)	C251G	probably damaging	Het
Snrnp70	T	C	7: 45,026,801 (GRCm39)	D215G	probably damaging	Het
Ston1	A	G	17: 88,951,871 (GRCm39)	E674G	probably benign	Het
Tbl3	T	C	17: 24,920,879 (GRCm39)		probably benign	Het
Tbl3	A	T	17: 24,924,226 (GRCm39)	I177N	probably damaging	Het
Tnrc6c	T	C	11: 117,612,811 (GRCm39)	V483A	probably damaging	Het

Other mutations in Siglec1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Siglec1	APN	2	130,921,245 (GRCm39)	missense	probably benign	0.03
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
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

Posted On

2013-06-21