Mutagenetix > Incidental Mutation

Incidental Mutation 'R8670:Siglec1'

661083

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

068525-MU

Accession Numbers

Essential gene?

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

Stock #

R8670 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130911140-130928685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130923387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 453 (S453P)

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 damaging
Transcript: ENSMUST00000028794
AA Change: S453P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: S453P

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: S453P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: S453P

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,966,424 (GRCm39)	L403Q	probably damaging	Het
Actl11	T	C	9: 107,805,959 (GRCm39)	F94S	possibly damaging	Het
Adam34	C	T	8: 44,105,126 (GRCm39)	C173Y	possibly damaging	Het
Ankrd24	C	T	10: 81,465,526 (GRCm39)		probably benign	Het
Armh2	A	G	13: 24,930,240 (GRCm39)	E162G	probably benign	Het
Atp12a	A	T	14: 56,617,546 (GRCm39)	D612V	probably damaging	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc178	T	C	18: 22,230,719 (GRCm39)	E384G	possibly damaging	Het
Cd82	T	A	2: 93,250,905 (GRCm39)	T212S	probably benign	Het
Cdk17	T	A	10: 93,061,958 (GRCm39)	L263*	probably null	Het
Cfap57	T	G	4: 118,472,122 (GRCm39)	I86L	possibly damaging	Het
Chd5	T	C	4: 152,469,953 (GRCm39)	M1842T	possibly damaging	Het
Clcn7	T	C	17: 25,378,588 (GRCm39)	F691S	probably damaging	Het
Cpvl	A	T	6: 53,951,780 (GRCm39)	M1K	probably null	Het
Cym	T	C	3: 107,118,812 (GRCm39)		probably null	Het
Diaph3	T	C	14: 86,893,835 (GRCm39)	E1147G	probably benign	Het
Eif4g3	T	G	4: 137,885,823 (GRCm39)		probably null	Het
Esp3	A	G	17: 40,943,040 (GRCm39)	D11G	probably benign	Het
Exoc1	A	G	5: 76,717,505 (GRCm39)	Y865C	probably damaging	Het
Flg2	A	T	3: 93,108,791 (GRCm39)	Q273L	probably damaging	Het
Fuca1	G	A	4: 135,650,282 (GRCm39)	V118I	possibly damaging	Het
Gga3	T	C	11: 115,478,542 (GRCm39)	N417D	probably benign	Het
Il1rl1	A	T	1: 40,480,559 (GRCm39)	I63F	probably damaging	Het
Kif26b	A	G	1: 178,741,349 (GRCm39)	Y785C	probably damaging	Het
Kif5b	A	C	18: 6,214,631 (GRCm39)	S599A	probably benign	Het
Klhl22	T	A	16: 17,594,327 (GRCm39)	I152N	probably damaging	Het
Mex3c	GC	G	18: 73,722,776 (GRCm39)		probably null	Het
Muc21	T	A	17: 35,932,540 (GRCm39)	T549S	unknown	Het
Or52n2c	A	T	7: 104,574,419 (GRCm39)	M184K	probably damaging	Het
Or8g2	A	G	9: 39,821,719 (GRCm39)	I207V	probably benign	Het
Orc3	A	T	4: 34,572,529 (GRCm39)	I633N	probably damaging	Het
Pclo	G	A	5: 14,732,061 (GRCm39)	R3521H	unknown	Het
Plec	A	G	15: 76,061,726 (GRCm39)	L2737P	probably damaging	Het
Prom1	T	A	5: 44,159,186 (GRCm39)	I813F	probably benign	Het
Prpf40b	T	A	15: 99,207,621 (GRCm39)	M517K	probably damaging	Het
Rab8a	TA	TAA	8: 72,925,130 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,349,563 (GRCm39)	L3808P		Het
Scnn1b	A	G	7: 121,498,472 (GRCm39)	K4R	probably benign	Het
Sim1	A	G	10: 50,784,849 (GRCm39)	K165E	probably damaging	Het
Slc49a4	G	T	16: 35,556,005 (GRCm39)	Q152K	possibly damaging	Het
Slco1a7	G	A	6: 141,711,468 (GRCm39)	T81I	possibly damaging	Het
Smarce1	T	C	11: 99,101,098 (GRCm39)	T345A	possibly damaging	Het
Spty2d1	T	C	7: 46,647,519 (GRCm39)	N470S	probably benign	Het
Stab2	T	A	10: 86,776,587 (GRCm39)	D763V	probably damaging	Het
Tbl1xr1	A	T	3: 22,245,164 (GRCm39)	E171D	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tex15	T	A	8: 34,064,746 (GRCm39)	I1392K	probably benign	Het
Thada	T	C	17: 84,739,774 (GRCm39)	E827G	probably benign	Het
Ttc3	A	G	16: 94,191,067 (GRCm39)	Y185C	probably damaging	Het
Vmn2r18	C	A	5: 151,485,854 (GRCm39)	D547Y	probably damaging	Het
Wdpcp	T	C	11: 21,645,196 (GRCm39)	V208A	probably benign	Het
Zfp322a	T	A	13: 23,541,274 (GRCm39)	Q156L	possibly damaging	Het
Zfp947	T	C	17: 22,364,687 (GRCm39)	D329G	probably benign	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
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
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'- GAAGTCTAGGCTGGACGTTG -3'
(R):5'- GATCGCCATGTTCTAGGGTG -3'

Sequencing Primer
(F):5'- ACGTTGAGTTTCCAAGGGAG -3'
(R):5'- ATACATAGGTTACAGTTGAGGAACC -3'

Posted On

2021-03-08