Mutagenetix > Incidental Mutation

Incidental Mutation 'R9745:Siglecg'

732047

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43408204-43418358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43418052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 681 (D681G)

Ref Sequence

ENSEMBL: ENSMUSP00000005592 (fasta)

Gene Model

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

AlphaFold

Q80ZE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000005592
AA Change: D681G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: D681G

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,169,663	M201V	unknown	Het
Agap2	T	A	10: 127,083,511	H488Q	unknown	Het
Ces1b	T	C	8: 93,063,997	D388G	probably benign	Het
Ces1f	T	C	8: 93,263,112	D392G	probably benign	Het
Ces5a	A	G	8: 93,502,186	V472A	probably damaging	Het
Chst1	A	G	2: 92,613,702	D173G	possibly damaging	Het
Cngb1	T	G	8: 95,241,291	E1294A	unknown	Het
Cnmd	T	C	14: 79,650,410	I124V	possibly damaging	Het
Cntnap2	A	T	6: 46,234,166	M505L	probably benign	Het
Cntnap4	T	A	8: 112,665,176	M91K	possibly damaging	Het
Cstad	A	G	2: 30,608,185	T11A	unknown	Het
Cyp2j6	A	T	4: 96,553,384	V23E	possibly damaging	Het
Dapk3	C	A	10: 81,192,760	T388K	unknown	Het
Dennd6a	G	A	14: 26,599,663	G120R	possibly damaging	Het
Disp1	A	C	1: 183,087,746	S1037A	probably damaging	Het
Egfem1	A	T	3: 29,662,383	D334V	probably damaging	Het
Egflam	C	T	15: 7,303,938	V178M	probably benign	Het
Ehbp1	T	C	11: 22,146,692	T291A	probably benign	Het
Eif5b	G	T	1: 38,045,648	V859F	probably damaging	Het
Fam161a	A	T	11: 23,023,495	Q459L	possibly damaging	Het
Fcgrt	A	C	7: 45,093,330	D342E	probably damaging	Het
Fchsd1	A	C	18: 37,969,372	D34E	probably benign	Het
Foxo4	G	A	X: 101,258,349	S209N	probably benign	Het
Galt	A	T	4: 41,758,185	M317L	possibly damaging	Het
Gfm1	A	G	3: 67,451,324	D416G	possibly damaging	Het
Glcci1	A	T	6: 8,573,278	I256L	probably benign	Het
Gm17018	A	T	19: 45,572,442	Q103L	probably benign	Het
Ibtk	C	T	9: 85,731,227	G228S	probably benign	Het
Il2rb	T	A	15: 78,488,199	D106V	probably benign	Het
Map3k6	A	T	4: 133,252,472	I1261F	probably damaging	Het
Mast2	A	G	4: 116,310,618	L1014P	probably benign	Het
Mcm2	G	A	6: 88,891,747	Q343*	probably null	Het
Megf8	A	G	7: 25,358,708	T2136A	possibly damaging	Het
Mmp28	G	A	11: 83,451,457	T103I	probably benign	Het
Mtif2	G	A	11: 29,526,587		probably benign	Het
Mtus2	A	T	5: 148,076,501	T35S	possibly damaging	Het
Ncoa2	A	T	1: 13,174,968	I502N	probably benign	Het
Nek5	A	C	8: 22,083,463	D492E	probably benign	Het
Nin	T	C	12: 70,043,125	E1172G		Het
Nsmaf	T	A	4: 6,416,662	I544F	possibly damaging	Het
Oas3	T	C	5: 120,761,219	D763G	unknown	Het
Olfr1040	C	T	2: 86,145,907	V276M	probably damaging	Het
Olfr1102	T	C	2: 87,002,143	V58A	probably benign	Het
Olfr1110	T	A	2: 87,135,439	N294I	probably damaging	Het
Olfr1191-ps1	T	A	2: 88,642,966	F66L	probably benign	Het
Olfr178	A	T	16: 58,889,902	L106Q	probably damaging	Het
Olfr434	G	A	6: 43,217,324	W137*	probably null	Het
Olfr550	A	T	7: 102,578,654	D53V	probably damaging	Het
Pcdh7	T	C	5: 57,722,280		probably null	Het
Pitx3	A	G	19: 46,136,221	S236P	possibly damaging	Het
Plscr5	T	A	9: 92,205,449	I157N	probably damaging	Het
Preb	T	C	5: 30,959,388	N54D	probably benign	Het
Pskh1	C	T	8: 105,929,772	A360V	possibly damaging	Het
Ptprk	T	C	10: 28,263,612	L111S	possibly damaging	Het
Reln	T	A	5: 21,947,527	I2314F	probably damaging	Het
Snx5	A	G	2: 144,254,796	V283A	probably benign	Het
Srpk2	C	A	5: 23,675,876		probably benign	Het
Tacr1	T	C	6: 82,492,638	Y168H	possibly damaging	Het
Tal1	G	T	4: 115,063,360	R77L	probably benign	Het
Tdrd12	T	C	7: 35,486,539		probably null	Het
Tdrd7	A	T	4: 45,994,310	N236I	possibly damaging	Het
Tdrd9	T	C	12: 112,042,696	F1012S	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tert	T	A	13: 73,636,490	L685Q	probably damaging	Het
Th	T	G	7: 142,895,114	D342A	probably damaging	Het
Tpsg1	G	T	17: 25,372,518	V31L	probably damaging	Het
Traf3ip1	C	G	1: 91,511,373	S337*	probably null	Het
Trpv6	A	G	6: 41,623,069	F551S	probably damaging	Het
Ttc30b	T	C	2: 75,937,917	Y164C	probably benign	Het
Urah	A	G	7: 140,835,618	N23D	probably benign	Het
Vangl1	A	C	3: 102,165,353		probably null	Het
Zc3h6	A	G	2: 129,017,235	E1062G	probably benign	Het
Zfp37	A	T	4: 62,192,407	V181E	possibly damaging	Het
Zfp638	T	A	6: 83,944,813	S641T	probably benign	Het
Zkscan16	A	T	4: 58,957,473	H585L	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
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
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
RF006:Siglecg	UTSW	7	43408864	nonsense	probably null
Z1177:Siglecg	UTSW	7	43412022	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCAGATGCCCCTTCTAGG -3'
(R):5'- CCAAACAGGAGCCATCATCTTTAG -3'

Sequencing Primer
(F):5'- AGATGCCCCTTCTAGGAGCTC -3'
(R):5'- GTCCTCGGGATCAATCTAAGAGTTC -3'

Posted On

2022-11-14