Mutagenetix > Incidental Mutation

Incidental Mutation 'R1701:Lgals3bp'

189748

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

039734-MU

Accession Numbers

Essential gene?

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

Stock #

R1701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118283573-118292787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118284781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 266 (Y266C)

Ref Sequence

ENSEMBL: ENSMUSP00000035579 (fasta)

Gene Model

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

AlphaFold

Q07797

Predicted Effect

probably damaging
Transcript: ENSMUST00000043722
AA Change: Y266C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035579
Gene: ENSMUSG00000033880
AA Change: Y266C

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 benign
Transcript: ENSMUST00000144529

Meta Mutation Damage Score

0.7641

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,190,142 (GRCm39)	L53P	probably damaging	Het
Acadsb	T	A	7: 131,026,213 (GRCm39)	F19I	probably benign	Het
Aldh3a2	C	T	11: 61,147,598 (GRCm39)	G303S	probably damaging	Het
Anks1b	T	C	10: 89,885,816 (GRCm39)	Y171H	probably damaging	Het
Anxa7	A	T	14: 20,510,229 (GRCm39)	I385N	probably damaging	Het
Astn1	A	T	1: 158,331,877 (GRCm39)	T324S	possibly damaging	Het
Ccdc88a	T	C	11: 29,427,427 (GRCm39)	V235A	possibly damaging	Het
Crhr2	T	C	6: 55,076,255 (GRCm39)	K258R	probably damaging	Het
Ctnnd1	T	C	2: 84,439,335 (GRCm39)	E786G	probably damaging	Het
Ctnnd2	G	A	15: 30,922,127 (GRCm39)	D918N	probably damaging	Het
Dnah9	A	G	11: 65,802,750 (GRCm39)	S200P	probably damaging	Het
Dot1l	T	C	10: 80,626,576 (GRCm39)	S1266P	possibly damaging	Het
Efemp1	A	G	11: 28,871,750 (GRCm39)	T422A	possibly damaging	Het
Fam135b	T	C	15: 71,331,578 (GRCm39)	H1137R	probably damaging	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fras1	G	A	5: 96,748,643 (GRCm39)	S706N	probably benign	Het
Gbf1	T	C	19: 46,250,114 (GRCm39)	L357P	probably damaging	Het
Gpatch2l	A	G	12: 86,335,726 (GRCm39)	S476G	probably benign	Het
Hbb-bh2	T	C	7: 103,489,450 (GRCm39)	T34A	probably benign	Het
Ints8	A	G	4: 11,231,656 (GRCm39)	L443P	probably damaging	Het
Intu	T	A	3: 40,618,694 (GRCm39)	D233E	probably damaging	Het
Itprid2	A	G	2: 79,466,394 (GRCm39)	K75E	probably damaging	Het
Kctd1	T	A	18: 15,102,617 (GRCm39)	I259L	possibly damaging	Het
Lama5	A	G	2: 179,863,162 (GRCm39)	C108R	probably damaging	Het
Lrig2	T	C	3: 104,401,993 (GRCm39)	I111V	probably benign	Het
Mtcl2	T	C	2: 156,872,539 (GRCm39)	N936S	probably damaging	Het
Myh8	G	T	11: 67,170,964 (GRCm39)	C125F	probably damaging	Het
Or2d3c	C	A	7: 106,526,129 (GRCm39)	C179F	probably damaging	Het
Or2h2	C	T	17: 37,396,623 (GRCm39)	V145M	probably benign	Het
Or51a10	T	C	7: 103,699,402 (GRCm39)	E53G	possibly damaging	Het
Or5ac21	T	C	16: 59,123,651 (GRCm39)	I46T	probably benign	Het
Or5p76	T	G	7: 108,122,731 (GRCm39)	Q142P	probably benign	Het
Or5w16	T	A	2: 87,576,894 (GRCm39)	M118K	probably damaging	Het
Or6c202	T	C	10: 128,995,974 (GRCm39)	Q293R	probably damaging	Het
Or8g4	A	T	9: 39,662,365 (GRCm39)	I228F	probably damaging	Het
Pate8	A	G	9: 36,493,114 (GRCm39)		probably benign	Het
Phc2	C	T	4: 128,645,400 (GRCm39)	P836S	probably damaging	Het
Pla2g7	T	C	17: 43,911,415 (GRCm39)	F189S	probably damaging	Het
Ptprk	A	G	10: 28,342,054 (GRCm39)	D487G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Robo4	G	T	9: 37,314,739 (GRCm39)	V198L	probably benign	Het
Selenbp1	C	A	3: 94,844,701 (GRCm39)	H119Q	probably damaging	Het
Slc25a13	T	C	6: 6,152,525 (GRCm39)		probably null	Het
Slc35f5	A	G	1: 125,498,330 (GRCm39)	E176G	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Tenm4	G	A	7: 96,552,096 (GRCm39)	V2512M	probably damaging	Het
Tmc8	A	G	11: 117,682,188 (GRCm39)		probably null	Het
Trim30d	C	T	7: 104,133,389 (GRCm39)	W21*	probably null	Het
Ube3c	G	A	5: 29,806,200 (GRCm39)	V281I	probably benign	Het
Usp17ld	T	C	7: 102,899,783 (GRCm39)	K383R	probably benign	Het
Vmn1r172	A	T	7: 23,359,529 (GRCm39)	Y138F	probably damaging	Het
Vmn1r180	T	C	7: 23,652,395 (GRCm39)	V186A	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,754 (GRCm39)		probably null	Het
Vmn2r61	T	C	7: 41,949,935 (GRCm39)	F785S	probably damaging	Het
Zfp141	T	A	7: 42,125,470 (GRCm39)	Y334F	probably benign	Het
Zfp609	T	C	9: 65,638,282 (GRCm39)	I317V	probably benign	Het
Zfp879	A	G	11: 50,724,060 (GRCm39)	I259T	possibly damaging	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
R0962:Lgals3bp	UTSW	11	118,283,846 (GRCm39)	makesense	probably null
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'- ACAGGCACTGTGTGGAACTCCAAG -3'
(R):5'- TACTCCCGAAGAATCGAGGTCAGC -3'

Sequencing Primer
(F):5'- CCTGGTGATCTTGGTACAAGGAC -3'
(R):5'- AATCGAGGTCAGCATGTCTTCTG -3'

Posted On

2014-05-14