Incidental Mutation 'IGL01128:Lag3'
ID51356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lag3
Ensembl Gene ENSMUSG00000030124
Gene Namelymphocyte-activation gene 3
SynonymsCD223, Ly66, LAG-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01128
Quality Score
Status
Chromosome6
Chromosomal Location124904361-124911705 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124909417 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 191 (D191G)
Ref Sequence ENSEMBL: ENSMUSP00000032217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032216] [ENSMUST00000032217]
Predicted Effect probably benign
Transcript: ENSMUST00000032216
SMART Domains Protein: ENSMUSP00000032216
Gene: ENSMUSG00000030122

DomainStartEndE-ValueType
Pfam:Prothymosin 2 98 1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000032217
AA Change: D191G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032217
Gene: ENSMUSG00000030124
AA Change: D191G

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204671
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Ahi1 A G 10: 21,074,433 T128A probably benign Het
Bves T A 10: 45,353,848 F249L probably damaging Het
Capns1 T C 7: 30,190,133 I214V probably benign Het
Cgnl1 G T 9: 71,724,561 Q503K possibly damaging Het
Ep300 A G 15: 81,630,006 probably benign Het
Fam117b T A 1: 59,969,018 F337Y probably damaging Het
Fam178b A T 1: 36,644,354 V95E probably damaging Het
Gak T A 5: 108,592,370 M560L probably damaging Het
Gna11 C A 10: 81,530,884 A331S probably damaging Het
Gtf3c3 A C 1: 54,428,876 F201V possibly damaging Het
Kat6b G A 14: 21,660,860 R734H probably benign Het
Mttp T A 3: 138,133,997 probably null Het
Nlgn3 A T X: 101,320,092 T790S probably benign Het
Olfr1487 G A 19: 13,619,746 E195K probably damaging Het
Olfr743 A G 14: 50,533,949 D179G probably damaging Het
Pkd2l2 T A 18: 34,417,015 Y238N probably damaging Het
Plg A T 17: 12,396,699 probably benign Het
Ptprm A T 17: 67,042,101 C376S probably damaging Het
Rexo1 T C 10: 80,549,739 D495G probably benign Het
Rims1 A T 1: 22,534,175 V315D probably damaging Het
Ros1 G A 10: 52,142,328 Q745* probably null Het
Satb1 A G 17: 51,805,289 V99A probably damaging Het
Sema3e C T 5: 14,232,115 P422S probably damaging Het
Stkld1 G T 2: 26,951,471 W476L probably benign Het
Syna T C 5: 134,559,480 D205G probably damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Togaram1 A G 12: 64,980,876 T880A probably benign Het
Uckl1 T C 2: 181,570,337 E363G probably damaging Het
Yeats2 T A 16: 20,161,968 probably benign Het
Other mutations in Lag3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01867:Lag3 APN 6 124910906 missense probably benign
IGL02880:Lag3 APN 6 124905471 missense probably benign 0.01
R1502:Lag3 UTSW 6 124909243 missense probably damaging 1.00
R1573:Lag3 UTSW 6 124909247 missense possibly damaging 0.65
R1886:Lag3 UTSW 6 124909439 missense probably damaging 0.99
R1907:Lag3 UTSW 6 124909487 missense possibly damaging 0.52
R2508:Lag3 UTSW 6 124911309 missense possibly damaging 0.91
R3016:Lag3 UTSW 6 124908466 missense probably damaging 1.00
R3732:Lag3 UTSW 6 124910140 missense probably benign 0.05
R3732:Lag3 UTSW 6 124910140 missense probably benign 0.05
R3733:Lag3 UTSW 6 124910140 missense probably benign 0.05
R3734:Lag3 UTSW 6 124910140 missense probably benign 0.05
R4679:Lag3 UTSW 6 124904545 missense possibly damaging 0.92
R4994:Lag3 UTSW 6 124904453 missense unknown
R5057:Lag3 UTSW 6 124905355 missense possibly damaging 0.58
R5527:Lag3 UTSW 6 124908629 missense probably damaging 0.99
R7227:Lag3 UTSW 6 124908494 missense possibly damaging 0.79
R7255:Lag3 UTSW 6 124910235 missense probably benign 0.04
R8081:Lag3 UTSW 6 124905447 nonsense probably null
R8138:Lag3 UTSW 6 124905492 missense probably damaging 0.99
R8710:Lag3 UTSW 6 124908445 missense probably damaging 1.00
X0009:Lag3 UTSW 6 124905352 missense possibly damaging 0.62
Posted On2013-06-21