Incidental Mutation 'IGL03367:Lgi2'
ID420127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgi2
Ensembl Gene ENSMUSG00000039252
Gene Nameleucine-rich repeat LGI family, member 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL03367
Quality Score
Status
Chromosome5
Chromosomal Location52533517-52566462 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 52562160 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 100 (D100Y)
Ref Sequence ENSEMBL: ENSMUSP00000143707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039750] [ENSMUST00000199942]
Predicted Effect probably damaging
Transcript: ENSMUST00000039750
AA Change: D100Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
AA Change: D100Y

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Blast:LRRNT 32 62 9e-15 BLAST
LRR_TYP 81 104 7.26e-3 SMART
LRR_TYP 105 128 4.72e-2 SMART
LRRCT 140 189 4.49e-4 SMART
Pfam:EPTP 224 265 3.9e-12 PFAM
Pfam:EPTP 270 311 2e-13 PFAM
Pfam:EPTP 316 362 2.1e-16 PFAM
Pfam:EPTP 365 407 2.3e-9 PFAM
Pfam:EPTP 412 454 4.8e-12 PFAM
Pfam:EPTP 457 498 2.7e-14 PFAM
low complexity region 499 509 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199942
AA Change: D100Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252
AA Change: D100Y

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Blast:LRRNT 32 62 7e-15 BLAST
LRR_TYP 81 104 7.26e-3 SMART
LRR_TYP 105 128 4.72e-2 SMART
LRR_TYP 129 152 5.99e-4 SMART
LRRCT 164 213 4.49e-4 SMART
Pfam:EPTP 216 257 5.6e-12 PFAM
Pfam:EPTP 262 303 2.8e-13 PFAM
Pfam:EPTP 308 354 3e-16 PFAM
Pfam:EPTP 357 399 3.3e-9 PFAM
Pfam:EPTP 404 446 6.8e-12 PFAM
Pfam:EPTP 449 490 3.8e-14 PFAM
low complexity region 491 501 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030419C18Rik A G 9: 58,499,098 H97R probably damaging Het
Abcc5 A T 16: 20,392,811 probably benign Het
Adra1a G A 14: 66,637,989 V138I possibly damaging Het
Alpk3 A G 7: 81,094,990 I1278V probably benign Het
Asb6 A T 2: 30,824,679 I185N possibly damaging Het
Atg9a A G 1: 75,187,957 V121A probably benign Het
Cdc42bpb A G 12: 111,336,159 Y155H probably damaging Het
Ceacam15 A C 7: 16,675,587 S8A possibly damaging Het
Cep170b T A 12: 112,737,238 D615E probably benign Het
Cntn6 G T 6: 104,804,338 G462C probably damaging Het
Col8a2 A G 4: 126,312,198 D667G probably damaging Het
Cyp2c29 A G 19: 39,329,215 K382E probably damaging Het
Dgkd T C 1: 87,940,308 probably null Het
Dkk2 C T 3: 132,178,077 T246I probably damaging Het
Dnah5 T C 15: 28,234,327 L294P possibly damaging Het
Erbb2 G T 11: 98,422,875 probably null Het
Fn1 A G 1: 71,597,553 F2147L probably benign Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm13088 C T 4: 143,655,623 V168I possibly damaging Het
Gnrhr C T 5: 86,182,331 V277I probably benign Het
H2-T10 T A 17: 36,120,393 E129V possibly damaging Het
Hmgcr T C 13: 96,665,853 T108A probably damaging Het
Hnrnph3 A T 10: 63,017,229 I196N probably damaging Het
Kcnq5 T C 1: 21,403,065 K653E probably damaging Het
Mettl15 T A 2: 109,131,571 H231L probably benign Het
Mthfd1l A G 10: 4,106,536 probably benign Het
Pik3cg A G 12: 32,192,121 S997P probably benign Het
Pla2g1b T C 5: 115,472,114 C105R probably damaging Het
Ppil1 A T 17: 29,252,244 probably benign Het
Rbbp8 A G 18: 11,721,719 T334A probably benign Het
Slc15a4 T C 5: 127,601,941 Y445C probably damaging Het
Sox14 A C 9: 99,875,662 I8S probably damaging Het
Spice1 A G 16: 44,356,178 T44A probably damaging Het
Sult3a1 G T 10: 33,877,346 V213L probably benign Het
Vkorc1l1 C A 5: 129,982,307 Y111* probably null Het
Wdr47 G T 3: 108,629,773 probably benign Het
Wdr90 A G 17: 25,847,791 probably benign Het
Other mutations in Lgi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Lgi2 APN 5 52538121 missense probably benign
IGL01310:Lgi2 APN 5 52554465 missense probably benign 0.44
IGL02086:Lgi2 APN 5 52565957 missense probably damaging 0.96
IGL03091:Lgi2 APN 5 52563965 critical splice donor site probably null
IGL03388:Lgi2 APN 5 52538477 missense probably damaging 1.00
R0388:Lgi2 UTSW 5 52554549 missense probably damaging 0.99
R0602:Lgi2 UTSW 5 52554423 missense probably damaging 0.98
R0633:Lgi2 UTSW 5 52554460 missense probably damaging 0.97
R1616:Lgi2 UTSW 5 52546638 missense probably benign 0.00
R1916:Lgi2 UTSW 5 52546632 missense probably benign
R2072:Lgi2 UTSW 5 52538505 missense probably damaging 1.00
R2512:Lgi2 UTSW 5 52537965 makesense probably null
R4614:Lgi2 UTSW 5 52538433 missense probably damaging 0.99
R4855:Lgi2 UTSW 5 52538507 missense probably damaging 1.00
R5092:Lgi2 UTSW 5 52538087 missense probably damaging 1.00
R5181:Lgi2 UTSW 5 52554450 missense probably damaging 1.00
R5311:Lgi2 UTSW 5 52554485 missense probably damaging 0.99
R6074:Lgi2 UTSW 5 52546642 missense probably benign
R7089:Lgi2 UTSW 5 52538490 missense probably damaging 0.99
Posted On2016-08-02