Mutagenetix > Incidental Mutation

Incidental Mutation 'R0480:Siglecg'

41926

Institutional Source

Beutler Lab

Gene Symbol

Siglecg

Ensembl Gene

ENSMUSG00000030468

Gene Name

sialic acid binding Ig-like lectin G

Synonyms

mSiglec-G, A630096C01Rik

MMRRC Submission

038680-MU

Accession Numbers

Essential gene?

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

Stock #

R0480 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43408204-43418358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43411126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 310 (A310V)

Ref Sequence

ENSEMBL: ENSMUSP00000005592 (fasta)

Gene Model

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

AlphaFold

Q80ZE3

Predicted Effect

probably benign
Transcript: ENSMUST00000005592
AA Change: A310V

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: A310V

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

Meta Mutation Damage Score

0.2819

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (117/118)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,880,186	L165F	probably damaging	Het
Adamts18	A	G	8: 113,738,818	V714A	possibly damaging	Het
Adamtsl1	G	T	4: 86,252,818	A518S	probably benign	Het
Adcy2	C	T	13: 68,732,112	V363M	probably damaging	Het
Ago4	G	T	4: 126,526,077	Q36K	probably benign	Het
Akr1a1	A	G	4: 116,639,847	V172A	possibly damaging	Het
Alkbh2	T	A	5: 114,125,535	N137I	probably damaging	Het
Ank3	T	A	10: 69,879,926	S470T	probably damaging	Het
Ankrd12	T	C	17: 66,049,828	T65A	possibly damaging	Het
Aox1	A	T	1: 58,043,651		probably benign	Het
Arhgap11a	A	T	2: 113,839,818	I320N	probably benign	Het
Arhgap17	G	A	7: 123,294,644	H518Y	probably damaging	Het
Ascc3	T	C	10: 50,735,252	V1563A	probably damaging	Het
Atf2	G	A	2: 73,819,156		probably benign	Het
Bmpr2	C	T	1: 59,845,659	T268I	probably damaging	Het
Bpifb9a	A	G	2: 154,264,688	I380V	probably benign	Het
C2cd2	G	A	16: 97,877,148	T363I	probably benign	Het
Catsperg2	T	G	7: 29,721,298	N190H	probably damaging	Het
Ccdc138	T	C	10: 58,561,967	L543S	probably damaging	Het
Ccdc170	A	T	10: 4,518,939	K162N	probably benign	Het
Cdca5	G	T	19: 6,090,298	R163L	probably damaging	Het
Cdh24	A	G	14: 54,632,597	F239S	probably benign	Het
Cdkl3	T	C	11: 52,005,055	V43A	probably damaging	Het
Cep152	G	T	2: 125,581,719	Q921K	possibly damaging	Het
Cftr	G	A	6: 18,274,518		probably benign	Het
Chmp5	T	C	4: 40,948,690		probably benign	Het
Cit	T	A	5: 115,933,393		probably benign	Het
Cngb3	T	A	4: 19,309,517		probably benign	Het
Cnr2	A	G	4: 135,917,601	E330G	probably benign	Het
Cyp21a1	A	T	17: 34,801,826	L473Q	probably damaging	Het
Dchs1	T	C	7: 105,771,489	T575A	probably benign	Het
Dedd2	A	G	7: 25,203,625	V303A	probably damaging	Het
Dmd	G	T	X: 84,425,738	A2370S	probably benign	Het
Dnah10	T	A	5: 124,808,851	N3009K	probably damaging	Het
Dnajc13	G	T	9: 104,200,509	N934K	probably damaging	Het
Dock1	C	T	7: 134,737,718	L106F	probably damaging	Het
Fat3	A	G	9: 15,997,729	Y2326H	probably benign	Het
Fhl5	A	T	4: 25,207,101	C222*	probably null	Het
Gm10639	C	T	9: 78,302,817	A135V	probably benign	Het
Gm1840	A	G	8: 5,639,888		noncoding transcript	Het
Gnmt	T	C	17: 46,725,928	T252A	probably benign	Het
Gtf2f1	A	G	17: 57,004,307		probably null	Het
Gtf3a	T	C	5: 146,953,229	Y187H	probably damaging	Het
Hdac2	A	G	10: 36,974,792	Y14C	probably damaging	Het
Hnrnph1	T	G	11: 50,385,762		probably benign	Het
Homer2	T	C	7: 81,618,603	D92G	possibly damaging	Het
Hspg2	T	C	4: 137,550,024	S2885P	probably damaging	Het
Insr	A	G	8: 3,161,770	S1084P	probably damaging	Het
Ints11	T	A	4: 155,887,624	V362E	probably damaging	Het
Kank2	T	C	9: 21,779,899	N513S	probably damaging	Het
Kdelc1	C	T	1: 44,110,757	W424*	probably null	Het
Kl	T	G	5: 150,953,288	V191G	probably damaging	Het
Krt23	A	G	11: 99,486,698		probably null	Het
Lama3	A	C	18: 12,450,424	T690P	possibly damaging	Het
Lamb1	G	A	12: 31,282,721	A281T	possibly damaging	Het
Lck	T	C	4: 129,555,640	E299G	probably damaging	Het
Lonrf1	A	G	8: 36,222,710	V703A	probably damaging	Het
Ly6f	T	C	15: 75,271,677	C78R	probably damaging	Het
Mapkap1	C	T	2: 34,533,781		probably benign	Het
Mast1	T	A	8: 84,913,089	I1204F	probably damaging	Het
Mbd6	C	T	10: 127,285,873		probably benign	Het
Mef2c	A	T	13: 83,592,901	T60S	probably damaging	Het
Mgat4c	C	T	10: 102,389,119	T398I	probably damaging	Het
Mmp12	C	A	9: 7,350,016	H102Q	probably damaging	Het
Mmp20	G	A	9: 7,645,373	G308E	probably damaging	Het
Mms19	A	T	19: 41,954,846	L395Q	probably damaging	Het
Mus81	A	G	19: 5,487,931		probably benign	Het
Mypn	C	T	10: 63,193,203	R27H	probably benign	Het
Nav3	T	C	10: 109,853,300	E372G	probably damaging	Het
Ncoa1	T	A	12: 4,339,105	I57F	probably damaging	Het
Ncstn	T	C	1: 172,082,592		probably benign	Het
Nefm	C	T	14: 68,124,159	D219N	probably damaging	Het
Notch2	C	T	3: 98,146,537	T2172I	possibly damaging	Het
Obscn	T	A	11: 59,133,946	K423*	probably null	Het
Olfr1164	A	C	2: 88,093,628	S103A	probably benign	Het
Olfr173	T	C	16: 58,797,321	N175S	probably benign	Het
Olfr459	A	T	6: 41,772,264	C12S	probably benign	Het
Olfr606	A	G	7: 103,451,628	N97S	probably benign	Het
Ostm1	T	A	10: 42,696,347	M242K	probably damaging	Het
Oxnad1	T	A	14: 32,099,480	I154N	probably damaging	Het
Pcdhb10	T	A	18: 37,413,099	D409E	probably damaging	Het
Pdcd11	T	C	19: 47,125,037		probably benign	Het
Peak1	C	A	9: 56,258,632	V671L	probably benign	Het
Pex1	G	A	5: 3,606,444		probably null	Het
Plk4	T	A	3: 40,805,640	F324I	probably benign	Het
Ppfibp1	C	A	6: 147,019,031		probably null	Het
Prcp	T	A	7: 92,919,082	W276R	probably damaging	Het
Prr14l	T	C	5: 32,829,880	E757G	probably benign	Het
Prss52	T	A	14: 64,113,644	Y293N	probably damaging	Het
Prune2	A	G	19: 17,006,792		probably benign	Het
Ptprk	G	C	10: 28,585,947	A84P	probably damaging	Het
Ptprk	C	T	10: 28,585,948	A84V	probably damaging	Het
Rock1	A	G	18: 10,079,120	L1116P	possibly damaging	Het
Sdha	A	T	13: 74,327,333	F526Y	probably benign	Het
Sema4b	T	C	7: 80,220,206	F414S	probably damaging	Het
Serpina12	T	C	12: 104,035,701	D252G	probably damaging	Het
Slc30a8	A	G	15: 52,325,570	I194V	probably benign	Het
Spred3	A	G	7: 29,162,975	S148P	probably damaging	Het
Taf9b	A	G	X: 106,218,408	S58P	probably damaging	Het
Tgm4	A	T	9: 123,062,419	Y109F	probably benign	Het
Tmprss11c	T	G	5: 86,237,609		probably benign	Het
Tmtc3	A	T	10: 100,471,404	V246D	probably damaging	Het
Tnip1	C	T	11: 54,937,994	G116R	probably damaging	Het
Tpr	A	G	1: 150,428,241	E1455G	possibly damaging	Het
Ttc3	T	A	16: 94,432,004	L986*	probably null	Het
Txndc15	A	G	13: 55,724,623	I275V	possibly damaging	Het
Ugt2b1	T	A	5: 86,926,456	I15L	probably benign	Het
Upf2	T	C	2: 5,957,634	V49A	possibly damaging	Het
Vmn1r117	G	A	7: 20,883,446	P226S	probably benign	Het
Vmn2r28	A	T	7: 5,490,457	H163Q	probably benign	Het
Vstm2a	T	A	11: 16,263,240	S208R	probably damaging	Het
Zfp346	T	A	13: 55,113,097	C79*	probably null	Het
Zfp628	A	T	7: 4,921,616	T946S	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTTCAGCAAGGCCAGTCTCTTC -3'
(R):5'- GAAACAGTCACTCTCAGGTCCTGTG -3'

Sequencing Primer
(F):5'- GGCCAGTCTCTTCGCCTC -3'
(R):5'- TCTCCCTGGGCAGAACATC -3'

Posted On

2013-05-23