Mutagenetix > Incidental Mutation

Incidental Mutation 'R9425:Lgals3bp'

712584

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

Accession Numbers

Essential gene?

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

Stock #

R9425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118283573-118292787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118284751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 276 (E276V)

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: E276V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035579
Gene: ENSMUSG00000033880
AA Change: E276V

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 benign
Transcript: ENSMUST00000144529

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,926,344 (GRCm39)	S1260T	probably damaging	Het
Adgra2	A	G	8: 27,576,094 (GRCm39)	I41V	probably benign	Het
Adgrf1	A	G	17: 43,621,274 (GRCm39)	I504V	possibly damaging	Het
Agtrap	A	G	4: 148,165,019 (GRCm39)	I136T	probably damaging	Het
Arhgef7	C	T	8: 11,867,736 (GRCm39)	T601I	probably damaging	Het
Asb7	T	C	7: 66,328,987 (GRCm39)	I18V	possibly damaging	Het
C1rl	T	C	6: 124,485,322 (GRCm39)	V231A	probably benign	Het
Cachd1	A	T	4: 100,832,057 (GRCm39)	T740S	probably benign	Het
Ccdc146	T	A	5: 21,508,135 (GRCm39)	I638F	probably damaging	Het
Ccser2	T	C	14: 36,601,163 (GRCm39)	N407S	probably benign	Het
Clec7a	G	A	6: 129,442,514 (GRCm39)	S126L	probably damaging	Het
Copb1	C	T	7: 113,848,182 (GRCm39)	G118R	probably damaging	Het
Cpne3	A	T	4: 19,525,148 (GRCm39)	M449K	probably damaging	Het
Cttnbp2	A	T	6: 18,423,880 (GRCm39)	C815S	probably damaging	Het
Cyp27b1	T	C	10: 126,886,006 (GRCm39)	L253P	probably damaging	Het
Cyp3a44	C	A	5: 145,740,548 (GRCm39)	G31*	probably null	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dmgdh	A	T	13: 93,880,813 (GRCm39)	I748L	probably benign	Het
Drc1	T	A	5: 30,502,938 (GRCm39)	W154R	probably benign	Het
E330034G19Rik	T	A	14: 24,358,387 (GRCm39)		probably null	Het
Gbp7	T	A	3: 142,248,718 (GRCm39)	V327E	probably damaging	Het
Gm11564	G	A	11: 99,706,065 (GRCm39)	P122S	unknown	Het
Grid2ip	C	A	5: 143,367,435 (GRCm39)	S615R		Het
Kcp	T	A	6: 29,489,151 (GRCm39)	Q1045L	probably benign	Het
Lrit1	T	C	14: 36,784,208 (GRCm39)	V512A	possibly damaging	Het
Mecom	T	A	3: 30,039,597 (GRCm39)	H154L	probably benign	Het
Mmp14	C	A	14: 54,677,804 (GRCm39)	T475K	probably damaging	Het
Mmp1a	T	G	9: 7,476,210 (GRCm39)	F436V	probably damaging	Het
Notch4	A	G	17: 34,795,801 (GRCm39)	S830G	probably benign	Het
Oas1b	T	C	5: 120,955,693 (GRCm39)	L158P	probably benign	Het
Odf4	A	G	11: 68,813,810 (GRCm39)	V126A	probably benign	Het
Olfml2a	A	G	2: 38,847,721 (GRCm39)	T427A	probably damaging	Het
Or2b28	A	G	13: 21,531,473 (GRCm39)	Y125C	probably damaging	Het
Or4c102	C	A	2: 88,422,877 (GRCm39)	T243K	probably damaging	Het
Or5b121	C	T	19: 13,507,222 (GRCm39)	L106F	probably damaging	Het
Or6d12	G	A	6: 116,493,574 (GRCm39)	E279K	possibly damaging	Het
Or8b42	A	G	9: 38,342,286 (GRCm39)	K236R	possibly damaging	Het
Panx3	G	A	9: 37,572,393 (GRCm39)	H386Y	probably benign	Het
Papss1	C	A	3: 131,270,708 (GRCm39)	C8*	probably null	Het
Papss2	G	T	19: 32,615,750 (GRCm39)	V161L	possibly damaging	Het
Pcdh18	G	T	3: 49,709,051 (GRCm39)	H755N	possibly damaging	Het
Pilrb2	G	C	5: 137,866,964 (GRCm39)	H180D	probably benign	Het
Pla2g4f	T	C	2: 120,133,264 (GRCm39)	D645G	possibly damaging	Het
Pnlip	A	T	19: 58,669,290 (GRCm39)	K430*	probably null	Het
Ralbp1	C	A	17: 66,171,506 (GRCm39)	A156S	possibly damaging	Het
Rnf4	C	T	5: 34,508,641 (GRCm39)	R168C	probably benign	Het
Slc17a5	C	T	9: 78,484,457 (GRCm39)	G127E	probably damaging	Het
Slc22a27	A	T	19: 7,874,156 (GRCm39)	N306K	probably damaging	Het
Slc5a9	G	A	4: 111,734,803 (GRCm39)	R664C	probably damaging	Het
Slco1b2	T	A	6: 141,603,249 (GRCm39)	I210K	possibly damaging	Het
Snx16	C	T	3: 10,499,520 (GRCm39)	R170H	probably damaging	Het
Speer4e1	T	C	5: 14,987,136 (GRCm39)	I90V	possibly damaging	Het
Stxbp5l	T	C	16: 36,994,706 (GRCm39)	D733G	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,382 (GRCm39)	V254A	probably benign	Het
Tmf1	A	G	6: 97,149,293 (GRCm39)	F485L	probably benign	Het
Tnks	G	A	8: 35,340,819 (GRCm39)	L396F	probably damaging	Het
Trabd	T	C	15: 88,969,496 (GRCm39)	C230R	probably damaging	Het
Trp53rkb	C	T	2: 166,637,542 (GRCm39)	A166V	probably benign	Het
Upf1	A	T	8: 70,792,003 (GRCm39)	D418E	probably benign	Het
Ust	A	C	10: 8,205,873 (GRCm39)	S137A	probably damaging	Het
Zfp513	T	A	5: 31,357,695 (GRCm39)	H228L	possibly damaging	Het
Zfp827	C	A	8: 79,905,588 (GRCm39)	A855E	probably 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
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
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'- TCCACCAGGCGCTCTATATC -3'
(R):5'- AGGTACTTTTACTCCCGAAGAATCG -3'

Sequencing Primer
(F):5'- GCGCTCTATATCCTCGTGTGAG -3'
(R):5'- AGAATCGAGGTCAGCATGTCTTC -3'

Posted On

2022-05-16