Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Siglec1'

359904

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 #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

130911140-130928685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130917889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 996 (S996I)

Ref Sequence

ENSEMBL: ENSMUSP00000105856 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028794
AA Change: S996I

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: S996I

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

possibly damaging
Transcript: ENSMUST00000110227
AA Change: S996I

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: S996I

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,621,385 (GRCm39)	C1082S	probably benign	Het
Akt2	G	T	7: 27,328,806 (GRCm39)	R176L	probably benign	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Apeh	A	G	9: 107,969,209 (GRCm39)	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,071,653 (GRCm39)	M481V	probably benign	Het
Atraid	G	A	5: 31,210,214 (GRCm39)	S135N	probably damaging	Het
Camta2	C	T	11: 70,566,484 (GRCm39)	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,319,614 (GRCm39)	N545S	probably benign	Het
Cic	A	G	7: 24,985,069 (GRCm39)	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,623,957 (GRCm39)	M4K	unknown	Het
Crnkl1	C	T	2: 145,772,532 (GRCm39)	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,847,847 (GRCm39)	C114S	probably benign	Het
Dsc2	A	T	18: 20,174,788 (GRCm39)	Y496N	probably damaging	Het
Dst	T	C	1: 34,309,910 (GRCm39)	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,994,752 (GRCm39)	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928 (GRCm39)	N767S	probably benign	Het
Gm1527	A	G	3: 28,949,829 (GRCm39)	T30A	unknown	Het
Gorasp2	C	A	2: 70,509,838 (GRCm39)	Y166*	probably null	Het
Gucy2c	T	A	6: 136,690,146 (GRCm39)	Q744L	probably damaging	Het
Heg1	A	T	16: 33,546,992 (GRCm39)	N593I	probably damaging	Het
Ice1	T	A	13: 70,757,278 (GRCm39)	S236C	possibly damaging	Het
Il12b	T	C	11: 44,298,808 (GRCm39)	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,035,200 (GRCm39)	V6I	probably benign	Het
Kcna6	A	G	6: 126,715,515 (GRCm39)	V458A	probably damaging	Het
Kif13b	G	A	14: 65,040,889 (GRCm39)	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,619,789 (GRCm39)	D116G	possibly damaging	Het
Lama2	T	C	10: 26,917,227 (GRCm39)	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,479,444 (GRCm39)	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,838,709 (GRCm39)	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,750,177 (GRCm39)	S105T	probably damaging	Het
Mga	T	A	2: 119,776,770 (GRCm39)	I1768N	possibly damaging	Het
Mical3	C	A	6: 120,984,270 (GRCm39)	G202V	probably damaging	Het
Mylk	A	T	16: 34,806,911 (GRCm39)	I1719F	probably benign	Het
Nusap1	T	A	2: 119,460,867 (GRCm39)	F120Y	possibly damaging	Het
Or52e8	T	A	7: 104,624,596 (GRCm39)	M203L	probably benign	Het
Or8b56	T	A	9: 38,739,511 (GRCm39)	C175S	probably damaging	Het
Or8k32	T	C	2: 86,368,492 (GRCm39)	T256A	possibly damaging	Het
Pidd1	T	C	7: 141,023,021 (GRCm39)	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,739,028 (GRCm39)	M671L	probably benign	Het
Ppp5c	A	G	7: 16,740,885 (GRCm39)	V361A	probably benign	Het
Prune2	T	C	19: 17,096,725 (GRCm39)	V743A	probably benign	Het
Slc12a7	A	G	13: 73,957,206 (GRCm39)	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,948,668 (GRCm39)	Y537*	probably null	Het
Smarca4	T	A	9: 21,584,638 (GRCm39)		probably benign	Het
Smg6	C	T	11: 74,944,760 (GRCm39)	P1109S	probably damaging	Het
Sorl1	T	A	9: 41,975,070 (GRCm39)	N513Y	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,603,704 (GRCm39)	C17R	probably damaging	Het
Ttc3	T	C	16: 94,268,785 (GRCm39)	C1956R	probably damaging	Het
Vmn1r211	G	T	13: 23,036,379 (GRCm39)	T96N	possibly damaging	Het
Vmn1r211	C	A	13: 23,036,376 (GRCm39)	S97I	probably damaging	Het
Vmn1r211	T	A	13: 23,036,377 (GRCm39)	S97C	probably damaging	Het
Vmn2r66	A	T	7: 84,644,623 (GRCm39)	S596T	probably benign	Het
Zfp609	A	G	9: 65,611,602 (GRCm39)	S454P	possibly 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
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
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

2015-12-18