Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01947:Siglecg'

181274

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Siglecg

Ensembl Gene

ENSMUSG00000030468

Gene Name

sialic acid binding Ig-like lectin G

Synonyms

mSiglec-G, A630096C01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL01947

Quality Score

Status

Chromosome

Chromosomal Location

43408204-43418358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43408763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 25 (Q25K)

Ref Sequence

ENSEMBL: ENSMUSP00000005592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005592]

AlphaFold

Q80ZE3

Predicted Effect

probably benign
Transcript: ENSMUST00000005592
AA Change: Q25K

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: Q25K

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	27	139	5.21e-2	SMART
IG_like	148	232	8.97e0	SMART
IGc2	262	325	3.38e-10	SMART
IGc2	366	427	8.26e-5	SMART
low complexity region	473	480	N/A	INTRINSIC
transmembrane domain	545	564	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154322

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for a null allele exhibit increased B-1 cell numbers, increased IgM levels and IgM-producing plasma cells, and produce more IgM autoantibodies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,510,791		probably null	Het
Aloxe3	T	A	11: 69,143,021		probably benign	Het
Atic	C	T	1: 71,570,837		probably benign	Het
Avpr1a	T	C	10: 122,452,182	V365A	probably benign	Het
Brd7	A	G	8: 88,332,875		probably benign	Het
Cc2d2a	A	G	5: 43,688,237	N332D	probably damaging	Het
Cdh20	C	T	1: 104,993,924	P649S	possibly damaging	Het
Cgnl1	T	C	9: 71,725,044	T342A	probably damaging	Het
Chst10	A	G	1: 38,865,565	L349P	probably damaging	Het
Cox6b2	T	A	7: 4,751,930	K77*	probably null	Het
Crnkl1	G	A	2: 145,921,824	A498V	probably benign	Het
Cux1	A	G	5: 136,275,125	L1394P	probably benign	Het
Dapp1	T	C	3: 137,935,643	Y197C	probably damaging	Het
Dcc	A	G	18: 71,826,209	I164T	probably benign	Het
Disp3	T	A	4: 148,260,519	I472F	probably damaging	Het
Gm10392	A	T	11: 77,517,480	D104E	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gpd1	A	G	15: 99,720,231	I143V	possibly damaging	Het
Hmcn1	T	A	1: 150,732,892	N1513I	possibly damaging	Het
Jakmip2	T	C	18: 43,547,094	I733V	probably benign	Het
Klhl12	T	A	1: 134,463,951	L107H	probably damaging	Het
Lcn8	A	G	2: 25,655,145	D109G	probably damaging	Het
Maz	A	T	7: 127,024,442		probably null	Het
Mttp	T	A	3: 138,107,129	D595V	probably damaging	Het
Mymk	A	C	2: 27,066,394	L58R	possibly damaging	Het
Nckap1	A	C	2: 80,508,753	I977S	probably damaging	Het
Nckap1l	A	T	15: 103,491,015	I1021F	probably benign	Het
Olfr102	A	T	17: 37,313,665	C240S	probably damaging	Het
Olfr1307	A	T	2: 111,944,994	M154K	probably benign	Het
Olfr1310	A	T	2: 112,009,016	S57T	possibly damaging	Het
Olfr768	G	A	10: 129,093,878	T32I	possibly damaging	Het
Pde5a	T	A	3: 122,835,610	F644L	probably damaging	Het
Pdzd2	A	G	15: 12,592,354	I68T	probably damaging	Het
Pik3r4	T	A	9: 105,686,150	V1242D	possibly damaging	Het
Ppp6r2	G	T	15: 89,278,726	W517L	probably damaging	Het
Scrib	A	T	15: 76,061,767	I703K	probably benign	Het
Serpina1b	T	C	12: 103,729,317	S322G	probably benign	Het
Slc12a3	G	A	8: 94,365,819		probably null	Het
Slc6a13	G	T	6: 121,325,157		probably null	Het
Stard13	A	T	5: 151,062,844	D282E	probably damaging	Het
Tpte	A	T	8: 22,355,473	Y513F	possibly damaging	Het
Ubox5	T	A	2: 130,600,659	K36I	possibly damaging	Het

Other mutations in Siglecg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00528:Siglecg	APN	7	43409057	missense	possibly damaging	0.64
IGL00556:Siglecg	APN	7	43411795	missense	probably benign	0.02
IGL01806:Siglecg	APN	7	43411464	splice site	probably null
IGL02257:Siglecg	APN	7	43411904	missense	probably benign	0.00
IGL02410:Siglecg	APN	7	43408829	missense	probably damaging	0.99
IGL02454:Siglecg	APN	7	43408895	missense	probably benign	0.00
Chamonix	UTSW	7	43409422	missense	possibly damaging	0.91
Dollywood	UTSW	7	43411099	missense	probably damaging	1.00
glowworm	UTSW	7	43408579	missense	probably benign	0.04
Montblanc	UTSW	7	43411386	intron	probably benign
Shenandoah	UTSW	7	43408802	missense	probably damaging	0.99
shenandoah2	UTSW	7	43412017	missense	possibly damaging	0.82
Sherando	UTSW	7	43409057	missense	possibly damaging	0.64
Smokies	UTSW	7	43409279	missense	probably benign	0.02
IGL02988:Siglecg	UTSW	7	43418052	missense	probably damaging	1.00
R0134:Siglecg	UTSW	7	43411171	missense	probably damaging	1.00
R0225:Siglecg	UTSW	7	43411171	missense	probably damaging	1.00
R0480:Siglecg	UTSW	7	43411126	missense	probably benign	0.42
R1538:Siglecg	UTSW	7	43417889	missense	possibly damaging	0.53
R1681:Siglecg	UTSW	7	43408941	missense	probably benign	0.17
R2358:Siglecg	UTSW	7	43409422	missense	possibly damaging	0.91
R4428:Siglecg	UTSW	7	43417926	missense	possibly damaging	0.84
R4429:Siglecg	UTSW	7	43417926	missense	possibly damaging	0.84
R4736:Siglecg	UTSW	7	43417908	missense	probably benign	0.03
R4754:Siglecg	UTSW	7	43411871	intron	probably benign
R5017:Siglecg	UTSW	7	43411386	intron	probably benign
R5713:Siglecg	UTSW	7	43408802	missense	probably damaging	0.99
R5777:Siglecg	UTSW	7	43409413	missense	possibly damaging	0.80
R5892:Siglecg	UTSW	7	43412204	intron	probably benign
R6153:Siglecg	UTSW	7	43412017	missense	possibly damaging	0.82
R6154:Siglecg	UTSW	7	43412017	missense	possibly damaging	0.82
R6331:Siglecg	UTSW	7	43408754	missense	possibly damaging	0.83
R6562:Siglecg	UTSW	7	43409057	missense	possibly damaging	0.64
R6749:Siglecg	UTSW	7	43408979	missense	probably benign	0.00
R7066:Siglecg	UTSW	7	43411742	missense	probably benign	0.40
R7884:Siglecg	UTSW	7	43409279	missense	probably benign	0.02
R8275:Siglecg	UTSW	7	43412468	missense	probably benign
R8554:Siglecg	UTSW	7	43408896	missense	probably benign	0.01
R8846:Siglecg	UTSW	7	43412518	missense	probably benign	0.02
R8873:Siglecg	UTSW	7	43418024	missense	probably benign	0.00
R8887:Siglecg	UTSW	7	43408584	missense	probably benign	0.18
R9012:Siglecg	UTSW	7	43411099	missense	probably damaging	1.00
R9032:Siglecg	UTSW	7	43411625	missense	probably benign	0.24
R9048:Siglecg	UTSW	7	43408579	missense	probably benign	0.04
R9085:Siglecg	UTSW	7	43411625	missense	probably benign	0.24
R9313:Siglecg	UTSW	7	43412432	missense	probably benign	0.03
R9320:Siglecg	UTSW	7	43409429	missense	probably benign	0.33
R9745:Siglecg	UTSW	7	43418052	missense	probably damaging	0.98
RF006:Siglecg	UTSW	7	43408864	nonsense	probably null
Z1177:Siglecg	UTSW	7	43412022	missense	probably damaging	1.00

Posted On

2014-05-07