Mutagenetix > Incidental Mutation

Incidental Mutation 'R8138:Lag3'

632349

Institutional Source

Beutler Lab

Gene Symbol

Lag3

Ensembl Gene

ENSMUSG00000030124

Gene Name

lymphocyte-activation gene 3

Synonyms

LAG-3, CD223, Ly66

MMRRC Submission

067566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R8138 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124881324-124888668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124882455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 347 (V347A)

Ref Sequence

ENSEMBL: ENSMUSP00000032217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032217]

AlphaFold

Q61790

Predicted Effect

probably damaging
Transcript: ENSMUST00000032217
AA Change: V347A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032217
Gene: ENSMUSG00000030124
AA Change: V347A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG	29	163	1.3e-2	SMART
IG	170	254	6.51e-3	SMART
IG	261	345	4.96e-8	SMART
Blast:IG_like	348	421	2e-28	BLAST
transmembrane domain	443	465	N/A	INTRINSIC
low complexity region	492	521	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.5%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have a generally normal phenotype but do display reduced natural killer cell activity and increased T cell response to infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	G	16: 8,418,829 (GRCm39)	D141G	probably benign	Het
Abcc1	A	G	16: 14,290,751 (GRCm39)	T1454A	probably damaging	Het
Acan	C	A	7: 78,748,175 (GRCm39)	T982N	probably benign	Het
Adam5	A	G	8: 25,271,778 (GRCm39)	L543P	probably damaging	Het
Akap13	T	A	7: 75,351,979 (GRCm39)		probably null	Het
Akirin1	G	A	4: 123,637,238 (GRCm39)	P116S	probably benign	Het
Bzw2	T	C	12: 36,159,819 (GRCm39)	D236G	probably benign	Het
C1qtnf2	G	A	11: 43,376,838 (GRCm39)	G70D	probably damaging	Het
Cd44	A	G	2: 102,662,842 (GRCm39)	I566T	probably benign	Het
Cltb	C	T	13: 54,746,596 (GRCm39)	D135N	possibly damaging	Het
Cpeb2	T	C	5: 43,392,352 (GRCm39)	V516A		Het
Cx3cr1	A	T	9: 119,880,649 (GRCm39)	M251K	possibly damaging	Het
Ect2l	A	T	10: 18,045,153 (GRCm39)	S301T	probably damaging	Het
Fgd6	A	G	10: 93,970,005 (GRCm39)	K1218R	probably null	Het
Fsip2	T	C	2: 82,806,141 (GRCm39)	V820A	possibly damaging	Het
Gnas	A	G	2: 174,140,179 (GRCm39)	E116G	probably benign	Het
Greb1l	T	C	18: 10,533,060 (GRCm39)	Y985H	probably benign	Het
Gtpbp3	T	C	8: 71,945,242 (GRCm39)	L438P	probably damaging	Het
Habp4	A	G	13: 64,323,884 (GRCm39)	D269G	possibly damaging	Het
Igf2r	A	T	17: 12,920,125 (GRCm39)	S1405T	probably benign	Het
Il17rc	A	G	6: 113,459,500 (GRCm39)	D482G	probably damaging	Het
Kmt2d	A	G	15: 98,741,534 (GRCm39)	I4542T	unknown	Het
Lmtk2	C	T	5: 144,112,415 (GRCm39)	S1045L	probably damaging	Het
Mblac2	A	G	13: 81,859,769 (GRCm39)	D41G	probably damaging	Het
Mfsd6	C	T	1: 52,748,671 (GRCm39)	V65I	probably benign	Het
Neb	A	G	2: 52,065,707 (GRCm39)	V6175A	possibly damaging	Het
Nin	A	G	12: 70,089,672 (GRCm39)	S1248P		Het
Nlrp4b	A	T	7: 10,449,458 (GRCm39)	M554L	probably benign	Het
Or51ab3	T	A	7: 103,201,266 (GRCm39)	H91Q	probably benign	Het
Or5an11	G	A	19: 12,246,436 (GRCm39)	V281M	possibly damaging	Het
Or5p59	A	T	7: 107,702,764 (GRCm39)	S83C	possibly damaging	Het
Or8k53	T	C	2: 86,177,930 (GRCm39)	Y60C	possibly damaging	Het
Pik3r4	C	A	9: 105,546,234 (GRCm39)	S861R	possibly damaging	Het
Ppp1r16a	T	C	15: 76,575,921 (GRCm39)	V95A	probably damaging	Het
Prss40	T	C	1: 34,597,080 (GRCm39)	Q156R	probably damaging	Het
Rhbdd3	CACCATGGCTGCTACCATGGCTGCT	CACCATGGCTGCT	11: 5,054,303 (GRCm39)		probably benign	Het
Rnf170	T	C	8: 26,616,009 (GRCm39)		probably null	Het
Smlr1	A	G	10: 25,411,939 (GRCm39)	V16A	probably benign	Het
Sowahb	A	G	5: 93,191,342 (GRCm39)	L459P	probably benign	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Tpo	T	C	12: 30,124,103 (GRCm39)	D899G	probably benign	Het
Traj7	C	T	14: 54,448,982 (GRCm39)	P19S		Het
Trit1	G	A	4: 122,937,582 (GRCm39)	W131*	probably null	Het
Vcpip1	GGGAGGCGGCGGCGGCGGCAGCGGAGGAGGCGGCGGCGGC	GGGAGGAGGCGGCGGCGGC	1: 9,818,334 (GRCm39)		probably benign	Het
Vmn1r4	A	G	6: 56,934,391 (GRCm39)	*298W	probably null	Het
Vmn2r124	T	A	17: 18,283,610 (GRCm39)	W435R	probably damaging	Het
Zbtb41	C	T	1: 139,369,545 (GRCm39)	R641C	probably damaging	Het
Zfp84	T	A	7: 29,474,797 (GRCm39)	F23Y	probably damaging	Het
Zfp879	G	T	11: 50,724,275 (GRCm39)	Y260*	probably null	Het
Zswim9	A	T	7: 12,995,337 (GRCm39)	F273Y	probably damaging	Het

Other mutations in Lag3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Lag3	APN	6	124,886,380 (GRCm39)	missense	probably damaging	1.00
IGL01867:Lag3	APN	6	124,887,869 (GRCm39)	missense	probably benign
IGL02880:Lag3	APN	6	124,882,434 (GRCm39)	missense	probably benign	0.01
R1502:Lag3	UTSW	6	124,886,206 (GRCm39)	missense	probably damaging	1.00
R1573:Lag3	UTSW	6	124,886,210 (GRCm39)	missense	possibly damaging	0.65
R1886:Lag3	UTSW	6	124,886,402 (GRCm39)	missense	probably damaging	0.99
R1907:Lag3	UTSW	6	124,886,450 (GRCm39)	missense	possibly damaging	0.52
R2508:Lag3	UTSW	6	124,888,272 (GRCm39)	missense	possibly damaging	0.91
R3016:Lag3	UTSW	6	124,885,429 (GRCm39)	missense	probably damaging	1.00
R3732:Lag3	UTSW	6	124,887,103 (GRCm39)	missense	probably benign	0.05
R3732:Lag3	UTSW	6	124,887,103 (GRCm39)	missense	probably benign	0.05
R3733:Lag3	UTSW	6	124,887,103 (GRCm39)	missense	probably benign	0.05
R3734:Lag3	UTSW	6	124,887,103 (GRCm39)	missense	probably benign	0.05
R4679:Lag3	UTSW	6	124,881,508 (GRCm39)	missense	possibly damaging	0.92
R4994:Lag3	UTSW	6	124,881,416 (GRCm39)	missense	unknown
R5057:Lag3	UTSW	6	124,882,318 (GRCm39)	missense	possibly damaging	0.58
R5527:Lag3	UTSW	6	124,885,592 (GRCm39)	missense	probably damaging	0.99
R7227:Lag3	UTSW	6	124,885,457 (GRCm39)	missense	possibly damaging	0.79
R7255:Lag3	UTSW	6	124,887,198 (GRCm39)	missense	probably benign	0.04
R8081:Lag3	UTSW	6	124,882,410 (GRCm39)	nonsense	probably null
R8710:Lag3	UTSW	6	124,885,408 (GRCm39)	missense	probably damaging	1.00
R9126:Lag3	UTSW	6	124,881,809 (GRCm39)	missense	probably damaging	0.99
X0009:Lag3	UTSW	6	124,882,315 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GTACAGCTGACACTGCCATC -3'
(R):5'- GGGTTGGGAACATTTCGAGTACAG -3'

Sequencing Primer
(F):5'- TGACACTGCCATCGCTCAG -3'
(R):5'- GCCCTGTAAACACAGTACTTCTGAG -3'

Posted On

2020-06-30