Mutagenetix > Incidental Mutation

Incidental Mutation 'R9032:Siglecg'

687135

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

068861-MU

Accession Numbers

Essential gene?

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

Stock #

R9032 (G1)

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

43408204-43418358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43411625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 374 (V374A)

Ref Sequence

ENSEMBL: ENSMUSP00000005592 (fasta)

Gene Model

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

AlphaFold

Q80ZE3

Predicted Effect

probably benign
Transcript: ENSMUST00000005592
AA Change: V374A

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: V374A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	C	T	13: 63,296,867	R752*	probably null	Het
5031439G07Rik	C	T	15: 84,960,581	M78I	probably benign	Het
Abca8b	C	T	11: 109,957,247	V803M	probably benign	Het
Acap1	T	C	11: 69,881,665	E728G	probably damaging	Het
Afg1l	G	A	10: 42,318,641	T385M	probably damaging	Het
Ankib1	T	C	5: 3,769,641	I93V	probably benign	Het
Apoa4	T	A	9: 46,242,977	L292Q	probably damaging	Het
Arhgap29	T	A	3: 122,014,600	D1142E	probably benign	Het
Asb5	A	T	8: 54,585,894	D265V	probably benign	Het
Ash1l	C	T	3: 88,981,987	A391V	probably benign	Het
Ash1l	T	C	3: 88,984,222	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,638,505	Y1308*	probably null	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dmtn	A	G	14: 70,616,094	S92P	probably damaging	Het
Edc4	T	C	8: 105,887,007	F353S	probably damaging	Het
Emc1	T	C	4: 139,367,163	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064		probably null	Het
Fat1	A	T	8: 45,039,857	N3872I	probably benign	Het
Fer	T	A	17: 63,921,772	M214K	probably damaging	Het
Fgf17	A	G	14: 70,636,996	F129L	probably damaging	Het
Fnbp1	T	C	2: 31,083,005	D161G	probably damaging	Het
Frmd4b	A	C	6: 97,292,373	S993A	probably benign	Het
Gm11397	T	C	13: 33,397,798	Y113H	probably damaging	Het
Hsh2d	T	C	8: 72,200,541	S256P	probably benign	Het
Il31ra	T	C	13: 112,524,094	S654G		Het
Lmnb2	T	C	10: 80,904,257	D442G	probably benign	Het
Med19	A	G	2: 84,685,316	M115V	probably damaging	Het
Mkl2	A	C	16: 13,412,228	T926P	probably damaging	Het
Mroh5	T	C	15: 73,783,453	Y641C	probably benign	Het
Mrpl18	A	T	17: 12,915,695	V61E	probably damaging	Het
Mtap	AC	A	4: 89,172,278		probably null	Het
Muc2	T	A	7: 141,700,489	C154S	probably damaging	Het
Mypn	T	G	10: 63,148,115		probably null	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nes	T	G	3: 87,979,762	V1776G	possibly damaging	Het
Nxn	A	G	11: 76,278,557	I132T	probably damaging	Het
Oxr1	G	A	15: 41,854,921	V798I	probably benign	Het
Papss1	C	A	3: 131,619,056	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,694,069	N2344S	probably benign	Het
Pfas	C	T	11: 68,988,595	G263S		Het
Pknox1	C	T	17: 31,603,255	T332M	possibly damaging	Het
Plch2	T	C	4: 155,000,519	D321G	probably damaging	Het
Pnma1	T	C	12: 84,147,032	N299S	probably benign	Het
Psg23	T	G	7: 18,614,735	N49T	possibly damaging	Het
Qrfpr	A	G	3: 36,221,950	F97S	probably damaging	Het
Rbl1	A	G	2: 157,193,153	F336L	probably benign	Het
Rpap1	G	A	2: 119,778,295	P143S	probably benign	Het
Rsph6a	A	T	7: 19,065,325	N294Y	probably damaging	Het
Sesn1	C	T	10: 41,810,839		probably benign	Het
Sh3d19	T	C	3: 86,126,685	Y782H	probably damaging	Het
Slc35d2	A	G	13: 64,108,413	F156S	probably damaging	Het
Slc6a11	A	T	6: 114,225,847	I301F	probably damaging	Het
Slx4ip	A	G	2: 137,068,320	K412E	possibly damaging	Het
Tas2r115	A	T	6: 132,737,364	V208E	probably benign	Het
Tmem132a	G	T	19: 10,866,471	Q174K	probably damaging	Het
Tmem136	C	T	9: 43,111,369	R230Q	probably benign	Het
Tmtc1	A	T	6: 148,336,251	Y338*	probably null	Het
Vav3	C	T	3: 109,506,406	A220V	probably benign	Het
Wt1	C	A	2: 105,126,815	Q7K	probably benign	Het
Zbtb4	T	A	11: 69,781,824	F204L	probably benign	Het
Zfp51	T	A	17: 21,464,398	L425H	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
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
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'- GACCTGAGAGTGACTGTTTCCC -3'
(R):5'- TACTCACAGTGCACAGAGAGG -3'

Sequencing Primer
(F):5'- GTGACTGTTTCCCAAGCAAACAGG -3'
(R):5'- GCTCAGAGAGATGCGCTG -3'

Posted On

2021-11-19