Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4576001:Siglec1'

556362

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

PIT4576001 (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 130920081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 817 (F817L)

Ref Sequence

ENSEMBL: ENSMUSP00000028794 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000028794
AA Change: F817L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: F817L

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: F817L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: F817L

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: 93.1%
3x: 90.8%
10x: 85.3%
20x: 72.8%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,929,983 (GRCm39)	S73P	probably damaging	Het
5730596B20Rik	G	T	6: 52,156,449 (GRCm39)	V172F	unknown	Het
Brms1	A	G	19: 5,096,229 (GRCm39)	K69E	probably damaging	Het
Calr4	A	C	4: 109,093,053 (GRCm39)	Q44H	possibly damaging	Het
Dnmt1	G	A	9: 20,823,071 (GRCm39)	T1242I	probably benign	Het
Dyrk3	A	G	1: 131,057,918 (GRCm39)	V85A	probably damaging	Het
Eif2a	T	C	3: 58,452,974 (GRCm39)	Y250H	probably damaging	Het
Esco1	T	C	18: 10,572,093 (GRCm39)	E749G	probably damaging	Het
Fat1	A	G	8: 45,477,682 (GRCm39)	I2243V	probably damaging	Het
Gh	A	T	11: 106,191,659 (GRCm39)	F128I	possibly damaging	Het
Gm17669	TAA	TAAA	18: 67,695,819 (GRCm39)		probably null	Het
Gtpbp4	A	G	13: 9,041,763 (GRCm39)	Y150H	probably damaging	Het
H2ac15	C	A	13: 21,937,781 (GRCm39)	D73Y	probably damaging	Het
Itga8	A	G	2: 12,234,903 (GRCm39)	S452P	probably benign	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,367,114 (GRCm39)	E2549G	probably benign	Het
Mindy1	C	T	3: 95,195,380 (GRCm39)	A41V	probably benign	Het
Mypn	T	A	10: 62,955,850 (GRCm39)	K1201M	probably damaging	Het
Ncor1	A	G	11: 62,224,543 (GRCm39)	S906P	probably damaging	Het
Npy1r	T	C	8: 67,156,874 (GRCm39)	V98A	probably benign	Het
Pate2	A	G	9: 35,581,889 (GRCm39)	Y61C	probably damaging	Het
Pfdn2	A	G	1: 171,173,310 (GRCm39)	S11G	unknown	Het
Prdm1	T	C	10: 44,334,504 (GRCm39)	M1V	probably null	Het
Prelp	A	G	1: 133,842,903 (GRCm39)	S81P	possibly damaging	Het
Prss12	T	C	3: 123,280,764 (GRCm39)	V483A	probably damaging	Het
Prss43	G	C	9: 110,656,955 (GRCm39)	V154L	probably damaging	Het
Ptpru	G	A	4: 131,529,855 (GRCm39)	R618*	probably null	Het
Rpa1	A	G	11: 75,203,984 (GRCm39)	S288P	probably damaging	Het
Semp2l1	T	C	1: 32,585,553 (GRCm39)	E119G	probably damaging	Het
Skint6	T	A	4: 112,910,564 (GRCm39)	S545C	possibly damaging	Het
Slit1	A	T	19: 41,612,988 (GRCm39)	V844D	possibly damaging	Het
Suclg2	G	T	6: 95,563,999 (GRCm39)	D195E	possibly damaging	Het
Tln1	G	T	4: 43,539,998 (GRCm39)	A1537D	probably damaging	Het
Trpv2	A	G	11: 62,472,027 (GRCm39)	D73G	probably damaging	Het
Ucp3	T	C	7: 100,129,458 (GRCm39)	S98P	probably benign	Het
Usp19	T	A	9: 108,369,931 (GRCm39)		probably null	Het
Vmn2r112	T	C	17: 22,833,912 (GRCm39)	F527L	probably benign	Het
Vmn2r93	T	C	17: 18,533,473 (GRCm39)	V459A	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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGTGAACTGTTGGCTGAC -3'
(R):5'- CAGCTGCCCCTATGGATTATG -3'

Sequencing Primer
(F):5'- ACAGTGGTAGTTTCCAGAGTCCAC -3'
(R):5'- CCCCTATGGATTATGTGCAAGAG -3'

Posted On

2019-06-07