Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Lgals3bp'

551696

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

045244-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118283573-118292787 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 118284309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 423 (W423*)

Ref Sequence

ENSEMBL: ENSMUSP00000035579 (fasta)

Gene Model

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

AlphaFold

Q07797

Predicted Effect

probably null
Transcript: ENSMUST00000043722
AA Change: W423*

SMART Domains

Protein: ENSMUSP00000035579
Gene: ENSMUSG00000033880
AA Change: W423*

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

probably null
Transcript: ENSMUST00000144529

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,900,445 (GRCm39)	A1291T	probably benign	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056 (GRCm39)	I690F	probably damaging	Het
Caln1	T	C	5: 130,868,124 (GRCm39)	V220A	possibly damaging	Het
Cd79b	T	A	11: 106,202,713 (GRCm39)	T263S	probably damaging	Het
Cep290	A	T	10: 100,379,220 (GRCm39)	K67N	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,389,324 (GRCm39)	I636V	probably benign	Het
Col9a3	C	T	2: 180,245,590 (GRCm39)	P154S	unknown	Het
Cyp3a11	T	A	5: 145,795,593 (GRCm39)	M453L	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,180,560 (GRCm39)	V246A	possibly damaging	Het
Eogt	T	C	6: 97,092,965 (GRCm39)	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,404,006 (GRCm39)	E380V	possibly damaging	Het
Fancl	T	C	11: 26,357,615 (GRCm39)	L114P	probably damaging	Het
Flad1	C	T	3: 89,314,837 (GRCm39)	G287S	probably benign	Het
Gcm1	G	T	9: 77,967,061 (GRCm39)	K93N	probably damaging	Het
Golga3	T	A	5: 110,350,578 (GRCm39)	D704E	probably benign	Het
Grb14	A	C	2: 64,747,197 (GRCm39)	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,462,666 (GRCm39)	N366D	probably benign	Het
Hecw1	A	T	13: 14,486,356 (GRCm39)	H376Q	probably benign	Het
Helb	A	T	10: 119,941,161 (GRCm39)	V509E	probably benign	Het
Hephl1	C	T	9: 14,981,111 (GRCm39)	E774K	probably damaging	Het
Hkdc1	T	C	10: 62,229,622 (GRCm39)	E685G	probably damaging	Het
Igfn1	T	C	1: 135,894,519 (GRCm39)	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,800,515 (GRCm39)	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,820,657 (GRCm39)	V1224E	probably damaging	Het
Mcm9	G	A	10: 53,414,669 (GRCm39)	T137I	possibly damaging	Het
Mdga1	C	A	17: 30,061,816 (GRCm39)		probably null	Het
Mocos	C	T	18: 24,799,572 (GRCm39)	P269S	probably damaging	Het
Naa40	A	G	19: 7,207,322 (GRCm39)	V134A	probably damaging	Het
Neb	G	A	2: 52,082,571 (GRCm39)	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,492,099 (GRCm39)	V137A	probably benign	Het
Nup133	T	C	8: 124,642,112 (GRCm39)	I784V	probably benign	Het
Nup214	T	C	2: 31,915,256 (GRCm39)	S1147P	possibly damaging	Het
Or10x4	A	T	1: 174,218,805 (GRCm39)	M57L	probably damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Plcb4	T	A	2: 135,824,043 (GRCm39)		probably null	Het
Pomt1	C	T	2: 32,143,848 (GRCm39)	T671I	probably benign	Het
Pomt2	G	T	12: 87,157,150 (GRCm39)	P723H	probably damaging	Het
Prpf8	T	A	11: 75,394,181 (GRCm39)	Y1741*	probably null	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Slc36a4	T	C	9: 15,633,250 (GRCm39)	F95L	probably benign	Het
Smn1	C	T	13: 100,267,648 (GRCm39)	P225S	probably benign	Het
Snrpa	A	T	7: 26,891,174 (GRCm39)	I99N	probably benign	Het
Tgm5	G	T	2: 120,878,977 (GRCm39)	Y588*	probably null	Het
Tmeff2	T	A	1: 51,224,404 (GRCm39)		probably null	Het
Tmem120b	T	C	5: 123,254,741 (GRCm39)	F314S	probably damaging	Het
Trim43b	C	T	9: 88,967,661 (GRCm39)	R325H	probably benign	Het
Vmn1r26	C	T	6: 57,985,755 (GRCm39)	A145T	probably benign	Het
Wdfy4	T	C	14: 32,693,531 (GRCm39)		probably null	Het
Wnt5a	C	A	14: 28,244,713 (GRCm39)	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,775,149 (GRCm39)		probably null	Het
Zfp398	T	C	6: 47,842,910 (GRCm39)	S321P	probably benign	Het
Zfp959	T	A	17: 56,205,501 (GRCm39)	C513S	possibly damaging	Het
Zfr2	A	G	10: 81,080,559 (GRCm39)	D411G	probably damaging	Het
Zkscan5	T	A	5: 145,147,988 (GRCm39)		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
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
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'- GTACACGAGAAGCCATAGTTCC -3'
(R):5'- TGTTCGAGCTGCAGTTCAAC -3'

Sequencing Primer
(F):5'- AGCCATAGTTCCAGCAGCTCTG -3'
(R):5'- TGTCCTTGTACCAAGATCACCAGG -3'

Posted On

2019-05-15