Mutagenetix > Incidental Mutation

Incidental Mutation 'R4274:Siglec1'

324690

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

041077-MU

Accession Numbers

Essential gene?

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

Stock #

R4274 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130911140-130928685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130927734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 24 (Q24R)

Ref Sequence

ENSEMBL: ENSMUSP00000105855 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028794
AA Change: Q24R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000028794
Gene: ENSMUSG00000027322
AA Change: Q24R

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
AA Change: Q24R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105855
Gene: ENSMUSG00000027322
AA Change: Q24R

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 benign
Transcript: ENSMUST00000110227
AA Change: Q24R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105856
Gene: ENSMUSG00000027322
AA Change: Q24R

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

Meta Mutation Damage Score

0.0831

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (55/56)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,980,930 (GRCm39)	Y36C	probably damaging	Het
Abcc4	T	C	14: 118,867,034 (GRCm39)	R228G	probably damaging	Het
Acap2	A	T	16: 30,926,932 (GRCm39)	S528T	probably benign	Het
Adamts6	T	A	13: 104,450,787 (GRCm39)	D323E	possibly damaging	Het
Ano8	G	T	8: 71,931,385 (GRCm39)		probably benign	Het
Ano9	T	G	7: 140,690,608 (GRCm39)	Q48P	probably benign	Het
Atp13a1	T	G	8: 70,257,942 (GRCm39)	L899R	probably benign	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Csn1s1	T	C	5: 87,828,820 (GRCm39)	*295R	probably null	Het
Dhx9	A	G	1: 153,344,672 (GRCm39)	I505T	probably damaging	Het
Dnajc17	A	T	2: 119,016,866 (GRCm39)	S37T	probably benign	Het
Dot1l	T	A	10: 80,619,822 (GRCm39)		probably null	Het
Dph7	A	G	2: 24,853,512 (GRCm39)	N109S	possibly damaging	Het
Ednra	C	T	8: 78,446,931 (GRCm39)	G49D	probably benign	Het
Fam83g	T	C	11: 61,592,554 (GRCm39)	M259T	probably damaging	Het
Fer1l4	A	T	2: 155,862,464 (GRCm39)	D1736E	probably damaging	Het
Fetub	T	C	16: 22,754,429 (GRCm39)	I212T	probably damaging	Het
Foxc2	C	A	8: 121,844,439 (GRCm39)	S362R	probably benign	Het
Gm8444	A	G	15: 81,727,734 (GRCm39)		probably benign	Het
Gpank1	G	A	17: 35,343,245 (GRCm39)	E242K	probably benign	Het
Hps4	G	A	5: 112,522,896 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ighv1-20	A	T	12: 114,687,819 (GRCm39)	W3R	probably damaging	Het
Kcnq1	T	C	7: 142,738,179 (GRCm39)	I209T	probably damaging	Het
Me3	A	T	7: 89,455,934 (GRCm39)	E262V	probably damaging	Het
Mei1	G	A	15: 82,009,064 (GRCm39)	R1233Q	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgprx3-ps	T	C	7: 46,959,574 (GRCm39)		noncoding transcript	Het
Or4k37	A	T	2: 111,159,160 (GRCm39)	Y132F	probably damaging	Het
Or5p6	C	A	7: 107,630,751 (GRCm39)	K266N	probably benign	Het
Or8a1b	A	T	9: 37,623,364 (GRCm39)	D70E	probably damaging	Het
Ostm1	T	C	10: 42,574,230 (GRCm39)	F153L	probably damaging	Het
Pkd1l3	C	T	8: 110,350,751 (GRCm39)	T532I	possibly damaging	Het
Prpf40a	G	A	2: 53,036,184 (GRCm39)	H624Y	probably damaging	Het
Rtn2	T	C	7: 19,021,249 (GRCm39)	S210P	probably benign	Het
Smurf1	T	C	5: 144,833,585 (GRCm39)		probably benign	Het
Ssr1	G	A	13: 38,169,266 (GRCm39)	L225F	possibly damaging	Het
Tlr6	A	G	5: 65,110,981 (GRCm39)	I642T	probably benign	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Tnrc18	T	C	5: 142,729,405 (GRCm39)	K1674R	unknown	Het
Tns1	T	A	1: 73,967,257 (GRCm39)	Y1115F	probably damaging	Het
Trim56	T	A	5: 137,142,541 (GRCm39)	E325V	probably damaging	Het
Ttn	T	C	2: 76,606,318 (GRCm39)	T18164A	possibly damaging	Het
Ugt2a3	A	T	5: 87,475,548 (GRCm39)	D361E	probably damaging	Het
Vmn2r125	T	C	4: 156,702,382 (GRCm39)	I56T	probably benign	Het
Xkr5	T	A	8: 18,984,183 (GRCm39)	H453L	probably benign	Het
Zcchc7	C	T	4: 44,931,335 (GRCm39)	H496Y	possibly damaging	Het
Zfp82	C	T	7: 29,755,792 (GRCm39)	R430H	probably damaging	Het
Zscan22	T	C	7: 12,640,251 (GRCm39)	V6A	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
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'- TTCAGCTCGACCCCTGAAAC -3'
(R):5'- TGTGGACTCAGCACAGAAG -3'

Sequencing Primer
(F):5'- GAAACGCTTGTCCACCAGCTTG -3'
(R):5'- GCCTAGACTATGATCAGATGTGACTG -3'

Posted On

2015-06-24