Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Siglecg'

453490

Institutional Source

Beutler Lab

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: 0.066) question?

Stock #

IGL02988 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

43408204-43418358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43418052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 681 (D681V)

Ref Sequence

ENSEMBL: ENSMUSP00000005592 (fasta)

Gene Model

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

AlphaFold

Q80ZE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000005592
AA Change: D681V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: D681V

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: ENSMUST00000124502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154322

Meta Mutation Damage Score

0.3027

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110079O15Rik	A	G	1: 87,475,204		probably null	Het
4933416I08Rik	TCC	TCCC	X: 53,690,895		noncoding transcript	Het
Adgrd1	G	A	5: 129,144,010	A488T	probably benign	Het
AF529169	A	G	9: 89,602,739	S202P	probably benign	Het
Ano3	T	C	2: 110,775,010	S284G	probably damaging	Het
Aox2	G	T	1: 58,337,350	V897L	probably benign	Het
Arl6	T	A	16: 59,613,846		probably null	Het
Blnk	G	A	19: 40,929,216	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590	T1221I	probably benign	Het
Cbll1	A	T	12: 31,492,172	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,036,484	Y279H	probably damaging	Het
Cflar	A	T	1: 58,741,031	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,280,130		probably null	Het
Crb1	CG	C	1: 139,237,086		probably null	Het
Cyp3a13	A	T	5: 137,899,010	Y347*	probably null	Het
Defa27	T	C	8: 21,315,567	S8P	probably damaging	Het
Depdc5	A	C	5: 32,956,167		probably null	Het
Dlg5	A	G	14: 24,166,255	F573S	probably damaging	Het
Fam20c	A	T	5: 138,755,994	E120V	probably benign	Het
Fam53a	T	C	5: 33,607,475	K296E	probably damaging	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Fndc1	T	C	17: 7,753,523	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,834,249		probably null	Het
Gm438	T	A	4: 144,786,530		probably benign	Het
Gm7582	G	A	1: 85,041,867		noncoding transcript	Het
Golga7b	A	C	19: 42,266,800	Y63S	probably damaging	Het
Hexb	A	G	13: 97,198,221	L14P	unknown	Het
Hsd17b3	A	C	13: 64,089,100	L10R	probably damaging	Het
Il6st	T	C	13: 112,498,886	F611L	probably damaging	Het
Ints13	T	A	6: 146,556,148	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,908,320	C685F	probably damaging	Het
Kif5c	A	G	2: 49,619,717	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,292,223		probably null	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mrc2	G	A	11: 105,325,571	R62Q	probably benign	Het
Myo1g	T	C	11: 6,508,183		probably benign	Het
Myo5a	A	T	9: 75,130,141		probably benign	Het
Nobox	G	A	6: 43,305,161	S326L	possibly damaging	Het
Nsl1	C	A	1: 191,063,103	S22*	probably null	Het
Olfr1052	T	C	2: 86,298,479	I221T	probably damaging	Het
Olfr1469	A	C	19: 13,411,462	K298Q	possibly damaging	Het
Pdia3	T	A	2: 121,429,556	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,503,605	R940*	probably null	Het
Plcd3	T	A	11: 103,076,742	Q458L	probably benign	Het
Polm	T	A	11: 5,836,343	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,003,114	K917*	probably null	Het
Rad54l2	A	G	9: 106,700,585	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,247,811		probably null	Het
Rnf215	A	G	11: 4,136,785	E194G	probably damaging	Het
Rorb	A	T	19: 18,937,972	F441I	probably damaging	Het
Sel1l2	C	A	2: 140,248,588	G378V	probably damaging	Het
Sema6a	G	T	18: 47,298,214	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,078,536	M274K	probably benign	Het
Siglec15	A	C	18: 78,049,247	L32R	probably damaging	Het
Slc6a13	G	T	6: 121,326,107		probably benign	Het
Slc9b2	G	T	3: 135,318,418	A77S	probably benign	Het
Slit3	T	A	11: 35,708,063	V1498D	probably damaging	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Stxbp2	T	C	8: 3,633,267		probably benign	Het
Tbc1d9b	T	C	11: 50,151,946	S482P	possibly damaging	Het
Tec	A	G	5: 72,768,747	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,235,346	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,165,542		probably null	Het
Tm4sf1	A	T	3: 57,293,116		probably null	Het
Tmcc1	T	C	6: 116,042,928	E306G	probably damaging	Het
Traf3ip3	A	T	1: 193,194,874		probably null	Het
Utf1	C	T	7: 139,943,962	P30L	possibly damaging	Het
Wdfy3	A	T	5: 101,929,981	C880S	probably 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
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

Predicted Primers

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

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

Posted On

2017-02-08