Mutagenetix > Incidental Mutation

Incidental Mutation 'R6331:Siglecg'

510916

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: 0.066) question?

Stock #

R6331 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

43408204-43418358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43408754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 22 (Y22H)

Ref Sequence

ENSEMBL: ENSMUSP00000005592 (fasta)

Gene Model

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

AlphaFold

Q80ZE3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005592
AA Change: Y22H

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: Y22H

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	A	18: 12,180,514	R228H	probably damaging	Het
9930021J03Rik	C	T	19: 29,717,747	V1449I	probably benign	Het
A2ml1	T	C	6: 128,552,236	D981G	probably damaging	Het
Abcc1	C	A	16: 14,465,056	A1132D	probably damaging	Het
Adamts12	A	G	15: 11,241,433	T364A	probably damaging	Het
Ahnak	A	T	19: 9,006,625	M1758L	probably benign	Het
Ak9	T	C	10: 41,382,829	V774A	probably damaging	Het
Ash1l	A	G	3: 89,007,865	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,797,131	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816		probably benign	Het
Ccdc102a	T	C	8: 94,911,516	T241A	probably benign	Het
Chd5	G	T	4: 152,382,408	R1627S	probably benign	Het
Clint1	T	C	11: 45,895,081	S322P	probably benign	Het
Dapk1	T	A	13: 60,729,442	C498*	probably null	Het
Diaph3	T	G	14: 86,866,540	S803R	probably damaging	Het
Dmp1	T	C	5: 104,207,125	L10P	probably damaging	Het
Gcc2	T	C	10: 58,271,465	V741A	probably benign	Het
Gldn	A	G	9: 54,286,878	M119V	probably benign	Het
Gucy1b1	A	G	3: 82,034,411	S574P	possibly damaging	Het
Hapln4	T	A	8: 70,084,423		probably benign	Het
Hars	A	G	18: 36,771,332	V209A	probably benign	Het
Htt	T	A	5: 34,895,887	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,515,986	D1299G	probably null	Het
Krt25	T	A	11: 99,317,427	E325V	probably damaging	Het
Lcmt1	T	C	7: 123,378,182		probably benign	Het
Lrp1b	A	T	2: 40,803,209	N3266K	probably damaging	Het
Marc2	A	G	1: 184,819,328	S304P	probably damaging	Het
Mctp1	T	A	13: 77,020,863		probably null	Het
Myo5b	G	A	18: 74,616,993	A176T	probably damaging	Het
Myom3	A	G	4: 135,776,377	N379S	possibly damaging	Het
Nbea	A	T	3: 56,000,616	D1358E	possibly damaging	Het
Nod1	T	C	6: 54,924,983	E939G	probably damaging	Het
Obox1	A	G	7: 15,555,369	R70G	probably benign	Het
Olfr1024	T	C	2: 85,904,216	I279M	probably benign	Het
Olfr1239	C	T	2: 89,418,351	G21S	probably benign	Het
Olfr1341	A	G	4: 118,709,947	E180G	probably benign	Het
Olfr272	A	G	4: 52,911,399	Y132H	probably damaging	Het
Otof	T	C	5: 30,371,935	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,137,355	I47V	probably damaging	Het
Pms2	T	A	5: 143,914,633	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,459,285	S337P	probably damaging	Het
Ptgfrn	A	C	3: 101,045,620	V766G	possibly damaging	Het
Ptpn11	T	A	5: 121,144,653	H419L	probably damaging	Het
Rims3	T	A	4: 120,883,153	V99E	probably damaging	Het
Samd9l	A	G	6: 3,376,361	V300A	probably damaging	Het
Sdad1	T	C	5: 92,303,930	D144G	probably damaging	Het
Slc39a1	A	G	3: 90,252,281	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,178,200	R414G	probably damaging	Het
Smg1	T	C	7: 118,154,277		probably benign	Het
Tbc1d9b	C	T	11: 50,131,497	A20V	possibly damaging	Het
Tgfb3	G	T	12: 86,063,864	D237E	probably benign	Het
Tle6	A	G	10: 81,595,239	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,879,614	N439S	probably benign	Het
Trim33	T	C	3: 103,341,609	S783P	probably benign	Het
Ttn	A	T	2: 76,802,354	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,134,101	V7I	probably benign	Het
Tufm	T	C	7: 126,489,238	V265A	probably benign	Het
Uhrf1bp1	T	C	17: 27,893,201	I1150T	probably benign	Het
Usp32	T	C	11: 84,986,576	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,376,250	M546L	probably damaging	Het
Uspl1	C	A	5: 149,214,287	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,431,670		probably null	Het
Vmn1r201	T	C	13: 22,475,351	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,278,761	S168P	probably damaging	Het
Wdr24	T	G	17: 25,825,676	D168E	possibly damaging	Het
Zfp646	C	T	7: 127,883,681	P1677S	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
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
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'- TAAGGCCACGATGTCACTGC -3'
(R):5'- CGGGCTTCCCATTCTAACAC -3'

Sequencing Primer
(F):5'- ACGATGTCACTGCTGCTG -3'
(R):5'- GGGCTTCCCATTCTAACACTTTATC -3'

Posted On

2018-04-02