Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02454:Siglecg'

293762

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: 0.063) question?

Stock #

IGL02454

Quality Score

Status

Chromosome

Chromosomal Location

43408204-43418358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43408895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 69 (S69P)

Ref Sequence

ENSEMBL: ENSMUSP00000005592 (fasta)

Gene Model

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

AlphaFold

Q80ZE3

Predicted Effect

probably benign
Transcript: ENSMUST00000005592
AA Change: S69P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: S69P

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	T	A	16: 38,827,947	T267S	probably benign	Het
Amz2	T	G	11: 109,434,061		probably benign	Het
Atp13a5	A	G	16: 29,232,808	F1104S	probably benign	Het
Cacna1c	T	C	6: 118,602,180	N1610S	probably damaging	Het
Ccnl1	A	T	3: 65,956,897	D122E	probably damaging	Het
Crtc2	G	A	3: 90,259,167	G65S	probably benign	Het
Dnah17	T	C	11: 118,080,767	T2160A	probably damaging	Het
Fads3	T	G	19: 10,055,119	L278R	probably damaging	Het
Foxp4	A	T	17: 47,875,582	L424*	probably null	Het
Gm10392	A	T	11: 77,518,390	E310V	probably damaging	Het
Gm11554	T	A	11: 99,803,989	S133C	unknown	Het
Hacd2	T	A	16: 35,106,391	F253L	probably benign	Het
Il3ra	T	C	14: 14,351,113	S212P	probably benign	Het
Mdn1	T	C	4: 32,694,674		probably null	Het
Mtfr1l	A	T	4: 134,530,385	L111H	probably damaging	Het
Mysm1	A	G	4: 94,970,504		probably benign	Het
Olfr418	C	A	1: 173,270,940	S255Y	probably damaging	Het
Olfr646	T	C	7: 104,106,612	V111A	probably damaging	Het
Plec	A	T	15: 76,191,031	F357I	probably damaging	Het
Polr3a	C	A	14: 24,475,823	V450L	possibly damaging	Het
Prkd1	T	C	12: 50,364,673	K764R	probably benign	Het
Pxn	C	T	5: 115,552,266	P256S	probably damaging	Het
Rbm25	T	A	12: 83,660,322	F247L	probably benign	Het
Rfx4	C	T	10: 84,840,106	T62M	possibly damaging	Het
Rps4l-ps	T	C	7: 114,927,264		noncoding transcript	Het
Scn11a	A	G	9: 119,758,544	I1378T	probably benign	Het
Stox1	T	C	10: 62,667,826	Y61C	probably damaging	Het
Tnks	C	T	8: 34,831,728		probably benign	Het
Tpr	A	G	1: 150,431,192	S1587G	probably benign	Het
Trappc6b	A	G	12: 59,043,647	*97Q	probably null	Het
Usf3	T	C	16: 44,217,182	V675A	probably damaging	Het
Wdr7	C	T	18: 63,796,228	T1045M	probably benign	Het
Zc3h11a	A	T	1: 133,624,516	C618S	probably benign	Het
Zfp398	T	C	6: 47,840,367	V47A	possibly damaging	Het
Zzz3	A	G	3: 152,428,574	N423S	probably benign	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
IGL01947:Siglecg	APN	7	43408763	missense	probably benign	0.43
IGL02257:Siglecg	APN	7	43411904	missense	probably benign	0.00
IGL02410:Siglecg	APN	7	43408829	missense	probably damaging	0.99
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

2015-04-16