Mutagenetix > Incidental Mutation

Incidental Mutation 'R4696:Lgals3bp'

355721

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

041946-MU

Accession Numbers

Essential gene?

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

Stock #

R4696 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118283573-118292787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118288977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 116 (E116K)

Ref Sequence

ENSEMBL: ENSMUSP00000101897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043722] [ENSMUST00000106290] [ENSMUST00000127054]

AlphaFold

Q07797

Predicted Effect

probably benign
Transcript: ENSMUST00000043722
AA Change: E116K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000035579
Gene: ENSMUSG00000033880
AA Change: E116K

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
AA Change: E116K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101897
Gene: ENSMUSG00000033880
AA Change: E116K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141459

Predicted Effect

probably benign
Transcript: ENSMUST00000144529

Meta Mutation Damage Score

0.1103

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (74/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,241,817 (GRCm39)	S1405G	probably benign	Het
Acaca	T	C	11: 84,171,261 (GRCm39)	V1165A	possibly damaging	Het
Acin1	C	A	14: 54,880,474 (GRCm39)		probably benign	Het
Akr1b8	G	A	6: 34,340,312 (GRCm39)	V159I	probably benign	Het
Alms1	T	C	6: 85,597,504 (GRCm39)	Y777H	probably damaging	Het
Cblc	C	A	7: 19,530,407 (GRCm39)	G101C	probably damaging	Het
Cdc42ep5	G	A	7: 4,154,614 (GRCm39)	P58L	possibly damaging	Het
Cic	A	G	7: 24,987,908 (GRCm39)	N1532S	probably benign	Het
Cipc	T	A	12: 86,999,714 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,617,146 (GRCm39)	I835V	probably benign	Het
Cntrob	C	T	11: 69,211,714 (GRCm39)	G170D	probably damaging	Het
Col14a1	A	G	15: 55,235,998 (GRCm39)	Q304R	unknown	Het
Csmd3	T	C	15: 47,777,364 (GRCm39)	T1181A	probably benign	Het
Dchs1	A	G	7: 105,413,834 (GRCm39)	F994L	probably damaging	Het
Ddx42	C	A	11: 106,138,529 (GRCm39)	A776D	probably benign	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dmpk	A	T	7: 18,822,139 (GRCm39)	N366Y	probably damaging	Het
Dmrt1	A	G	19: 25,580,674 (GRCm39)	Y362C	possibly damaging	Het
Dock10	C	T	1: 80,493,330 (GRCm39)	G1880D	possibly damaging	Het
Dzip1l	A	G	9: 99,545,664 (GRCm39)	R638G	possibly damaging	Het
Dzip3	T	A	16: 48,746,332 (GRCm39)		probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Eno4	T	C	19: 58,934,068 (GRCm39)	S90P	probably damaging	Het
Epn2	C	G	11: 61,426,129 (GRCm39)	A283P	probably damaging	Het
Eya3	T	A	4: 132,397,543 (GRCm39)	Y67*	probably null	Het
Fat2	T	C	11: 55,175,841 (GRCm39)	N1624S	probably benign	Het
Fez1	T	A	9: 36,781,766 (GRCm39)		probably null	Het
Fgfr1	T	C	8: 26,053,504 (GRCm39)	S260P	probably damaging	Het
Glb1	A	G	9: 114,293,220 (GRCm39)	S532G	probably benign	Het
Gm15455	A	T	1: 33,876,874 (GRCm39)		noncoding transcript	Het
Grid2ip	A	G	5: 143,377,131 (GRCm39)		probably benign	Het
Guca2b	C	A	4: 119,513,996 (GRCm39)	G129V	probably damaging	Het
Hes3	T	C	4: 152,372,124 (GRCm39)	E65G	probably damaging	Het
Itgbl1	T	C	14: 124,204,120 (GRCm39)	C404R	probably damaging	Het
Kansl1	C	T	11: 104,247,593 (GRCm39)	V586I	possibly damaging	Het
Krt18	A	G	15: 101,940,293 (GRCm39)	D390G	probably benign	Het
Laptm5	T	C	4: 130,660,982 (GRCm39)		probably benign	Het
Lrrc39	C	T	3: 116,363,769 (GRCm39)	S114F	probably damaging	Het
Mfap3	T	C	11: 57,419,117 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,899,931 (GRCm39)	H481R	probably benign	Het
Ntm	T	C	9: 29,090,501 (GRCm39)	T73A	possibly damaging	Het
Or5m13b	T	A	2: 85,749,215 (GRCm39)		probably null	Het
Or8g4	T	A	9: 39,662,024 (GRCm39)	M114K	probably damaging	Het
Pbk	G	A	14: 66,049,386 (GRCm39)	C21Y	probably benign	Het
Pglyrp1	A	G	7: 18,618,871 (GRCm39)	E74G	probably benign	Het
R3hdm1	G	T	1: 128,164,503 (GRCm39)		probably benign	Het
Rap1gds1	T	C	3: 138,633,375 (GRCm39)	T599A	probably damaging	Het
Rigi	A	G	4: 40,203,798 (GRCm39)		probably benign	Het
Rims1	A	T	1: 22,358,836 (GRCm39)	M1273K	probably damaging	Het
Sbf1	G	A	15: 89,187,315 (GRCm39)	R721*	probably null	Het
Slc17a1	T	C	13: 24,064,700 (GRCm39)	I388T	probably damaging	Het
Sprn	A	C	7: 139,733,469 (GRCm39)		probably benign	Het
Tango6	T	C	8: 107,426,863 (GRCm39)	V459A	possibly damaging	Het
Tert	C	T	13: 73,775,939 (GRCm39)	T230I	probably benign	Het
Thada	T	C	17: 84,733,614 (GRCm39)	D1011G	possibly damaging	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trip11	A	T	12: 101,851,549 (GRCm39)	N838K	possibly damaging	Het
Ttn	A	G	2: 76,597,997 (GRCm39)	W19639R	probably damaging	Het
Ubr4	T	A	4: 139,135,983 (GRCm39)	S924T	probably benign	Het
Upb1	A	G	10: 75,250,861 (GRCm39)	E110G	probably benign	Het
Vegfa	C	T	17: 46,339,272 (GRCm39)		probably null	Het
Vmn1r231	T	C	17: 21,110,901 (GRCm39)	K5E	possibly damaging	Het
Vmn2r16	A	T	5: 109,487,168 (GRCm39)	I130F	probably benign	Het
Wscd2	T	A	5: 113,689,240 (GRCm39)	V82E	probably benign	Het
Zfp462	A	G	4: 55,008,612 (GRCm39)	T193A	probably benign	Het
Zfp467	A	G	6: 48,416,291 (GRCm39)		probably benign	Het
Zfp619	T	C	7: 39,186,412 (GRCm39)	L814P	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
R0962:Lgals3bp	UTSW	11	118,283,846 (GRCm39)	makesense	probably null
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
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'- CTGATCGAGGAGCTTCTCTGAC -3'
(R):5'- TCTTTAAGCATCCCATCCTGAG -3'

Sequencing Primer
(F):5'- GAGCTTCTCTGACGTGTGTAACAC -3'
(R):5'- ATCCCATCCTGAGCTGGTG -3'

Posted On

2015-10-21