Mutagenetix > Incidental Mutation

Incidental Mutation 'R0962:Lgals3bp'

81302

Institutional Source

Beutler Lab

Gene Symbol

Lgals3bp

Ensembl Gene

ENSMUSG00000033880

Gene Name

lectin, galactoside-binding, soluble, 3 binding protein

Synonyms

Tango10b, CyCAP, MAC-2BP, 90K, Ppicap

MMRRC Submission

039091-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0962 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118283573-118292787 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 118283846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 139 (*139K)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043722] [ENSMUST00000106290]

AlphaFold

Q07797

Predicted Effect

probably null
Transcript: ENSMUST00000043722
AA Change: *578K

SMART Domains

Protein: ENSMUSP00000035579
Gene: ENSMUSG00000033880
AA Change: *578K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
SR	24	124	1.43e-52	SMART
BTB	153	251	8.57e-6	SMART
BACK	260	360	1.78e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106290

SMART Domains

Protein: ENSMUSP00000101897
Gene: ENSMUSG00000033880

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
SR	24	124	1.43e-52	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141459

Predicted Effect

probably null
Transcript: ENSMUST00000144529
AA Change: *139K

Meta Mutation Damage Score

0.8293

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.9%
20x: 96.0%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are more susceptible to bacterial infection and overproduce IL-12, interferon-gamma and TNF-alpha. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,202,129 (GRCm39)	A196T	probably damaging	Het
Adamtsl4	T	A	3: 95,591,798 (GRCm39)	R97*	probably null	Het
Adgrv1	T	C	13: 81,553,465 (GRCm39)	I5470V	probably benign	Het
Afg3l2	T	C	18: 67,538,497 (GRCm39)	T754A	possibly damaging	Het
Agfg1	T	C	1: 82,864,117 (GRCm39)	F395S	probably damaging	Het
Ahnak	A	G	19: 8,990,212 (GRCm39)		probably benign	Het
Alkbh2	T	C	5: 114,262,014 (GRCm39)	K239E	possibly damaging	Het
Ankmy1	A	T	1: 92,827,290 (GRCm39)	C87*	probably null	Het
Apob	A	G	12: 8,039,191 (GRCm39)	I461V	probably damaging	Het
Arap1	C	T	7: 101,034,121 (GRCm39)	P188S	possibly damaging	Het
Atp12a	G	A	14: 56,605,870 (GRCm39)	E64K	probably damaging	Het
Brca1	A	T	11: 101,416,192 (GRCm39)	H647Q	possibly damaging	Het
Cachd1	A	G	4: 100,840,498 (GRCm39)		probably benign	Het
Cep57	A	T	9: 13,720,039 (GRCm39)	V429D	possibly damaging	Het
Cfap299	T	C	5: 98,714,420 (GRCm39)		probably benign	Het
Dip2a	T	C	10: 76,128,266 (GRCm39)		probably benign	Het
Dmxl2	A	T	9: 54,353,696 (GRCm39)	N757K	probably damaging	Het
Dock7	G	A	4: 98,833,432 (GRCm39)	T1953I	possibly damaging	Het
Ebf3	T	C	7: 136,826,932 (GRCm39)	T111A	probably damaging	Het
Ercc4	T	C	16: 12,948,010 (GRCm39)	I319T	probably damaging	Het
Fat1	T	C	8: 45,486,363 (GRCm39)		probably benign	Het
Gucy2g	C	T	19: 55,198,716 (GRCm39)	W809*	probably null	Het
Hhipl1	A	G	12: 108,293,980 (GRCm39)	K629E	probably benign	Het
Hmbox1	A	T	14: 65,134,223 (GRCm39)	S126T	probably benign	Het
Htr1a	A	G	13: 105,580,832 (GRCm39)	N24S	probably benign	Het
Htra3	T	A	5: 35,825,700 (GRCm39)	I185F	probably damaging	Het
Impg1	C	T	9: 80,289,023 (GRCm39)	D345N	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm7a	A	G	6: 39,124,128 (GRCm39)	V720A	probably benign	Het
Kirrel3	A	G	9: 34,912,293 (GRCm39)	D212G	possibly damaging	Het
Lrp11	T	A	10: 7,466,060 (GRCm39)	V82D	probably benign	Het
Mcf2l	T	C	8: 13,051,964 (GRCm39)	Y425H	probably benign	Het
Mfn2	T	C	4: 147,966,658 (GRCm39)	N511S	probably benign	Het
Mical2	T	C	7: 111,979,624 (GRCm39)	S108P	probably damaging	Het
Ms4a6c	C	T	19: 11,448,506 (GRCm39)	T13M	probably benign	Het
Naip2	C	A	13: 100,315,893 (GRCm39)	V296F	probably damaging	Het
Or2d36	T	A	7: 106,747,294 (GRCm39)	F257Y	possibly damaging	Het
Or51a5	A	G	7: 102,771,217 (GRCm39)	V254A	possibly damaging	Het
Or7e175	T	A	9: 20,048,834 (GRCm39)	C141S	probably damaging	Het
P3h2	T	C	16: 25,815,998 (GRCm39)	M172V	probably benign	Het
Pcolce2	T	G	9: 95,552,087 (GRCm39)	N73K	probably benign	Het
Pla2g4d	A	G	2: 120,111,098 (GRCm39)		probably null	Het
Ppfia3	A	G	7: 44,997,146 (GRCm39)		probably benign	Het
Ptprcap	A	G	19: 4,206,463 (GRCm39)	D182G	possibly damaging	Het
Rabgap1	T	C	2: 37,450,481 (GRCm39)		probably benign	Het
Rpain	G	A	11: 70,865,867 (GRCm39)		probably null	Het
Sdk1	C	T	5: 142,147,630 (GRCm39)	T1754I	probably damaging	Het
Stag1	T	A	9: 100,678,880 (GRCm39)	L267Q	probably damaging	Het
Tex9	T	C	9: 72,391,374 (GRCm39)	T92A	probably benign	Het
Trpa1	T	A	1: 14,968,387 (GRCm39)	I460F	possibly damaging	Het
Ttn	A	T	2: 76,780,500 (GRCm39)	Y1084N	probably damaging	Het
Utp6	A	G	11: 79,832,694 (GRCm39)		probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het

Other mutations in Lgals3bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02377:Lgals3bp	APN	11	118,284,290 (GRCm39)	missense	probably benign
IGL02439:Lgals3bp	APN	11	118,289,046 (GRCm39)	missense	probably damaging	1.00
R0319:Lgals3bp	UTSW	11	118,284,347 (GRCm39)	missense	probably damaging	1.00
R0452:Lgals3bp	UTSW	11	118,284,290 (GRCm39)	missense	probably benign
R0499:Lgals3bp	UTSW	11	118,289,019 (GRCm39)	splice site	probably null
R0605:Lgals3bp	UTSW	11	118,284,220 (GRCm39)	missense	probably damaging	1.00
R1701:Lgals3bp	UTSW	11	118,284,781 (GRCm39)	missense	probably damaging	1.00
R2132:Lgals3bp	UTSW	11	118,284,113 (GRCm39)	missense	probably benign	0.00
R4696:Lgals3bp	UTSW	11	118,288,977 (GRCm39)	missense	probably benign	0.02
R4720:Lgals3bp	UTSW	11	118,289,295 (GRCm39)	missense	probably damaging	1.00
R4783:Lgals3bp	UTSW	11	118,284,340 (GRCm39)	missense	probably damaging	1.00
R4785:Lgals3bp	UTSW	11	118,284,340 (GRCm39)	missense	probably damaging	1.00
R4926:Lgals3bp	UTSW	11	118,284,781 (GRCm39)	missense	probably damaging	1.00
R5504:Lgals3bp	UTSW	11	118,284,811 (GRCm39)	missense	probably benign	0.37
R6077:Lgals3bp	UTSW	11	118,290,568 (GRCm39)	missense	probably damaging	1.00
R6280:Lgals3bp	UTSW	11	118,284,106 (GRCm39)	missense	possibly damaging	0.92
R7069:Lgals3bp	UTSW	11	118,283,999 (GRCm39)	missense	probably benign	0.00
R7114:Lgals3bp	UTSW	11	118,284,309 (GRCm39)	nonsense	probably null
R7548:Lgals3bp	UTSW	11	118,287,669 (GRCm39)	missense	probably benign
R7638:Lgals3bp	UTSW	11	118,288,995 (GRCm39)	missense	possibly damaging	0.91
R8354:Lgals3bp	UTSW	11	118,289,367 (GRCm39)	missense	probably damaging	0.99
R9425:Lgals3bp	UTSW	11	118,284,751 (GRCm39)	missense	probably damaging	1.00
R9614:Lgals3bp	UTSW	11	118,284,037 (GRCm39)	missense	probably benign
R9720:Lgals3bp	UTSW	11	118,284,083 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CCTCATGGAACCTGCTTGTACCTG -3'
(R):5'- AGCTGCTGGAACTATGGCTTCTCG -3'

Sequencing Primer
(F):5'- AGTGCTGGCTGAAACCTTCT -3'
(R):5'- GAACAGAGTACTGATCCTCTGCG -3'

Posted On

2013-11-07