Incidental Mutation 'IGL02251:Lgi4'
ID286410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgi4
Ensembl Gene ENSMUSG00000036560
Gene Nameleucine-rich repeat LGI family, member 4
Synonymsclp
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02251
Quality Score
Status
Chromosome7
Chromosomal Location31059342-31070935 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 31067263 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039775] [ENSMUST00000072331] [ENSMUST00000164725] [ENSMUST00000167369] [ENSMUST00000169785] [ENSMUST00000171359]
Predicted Effect probably null
Transcript: ENSMUST00000039775
SMART Domains Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
LRR 75 98 7.17e1 SMART
LRR 99 122 2.76e1 SMART
LRR_TYP 123 146 2.43e-4 SMART
LRRCT 158 207 3.97e-5 SMART
Pfam:EPTP 214 251 1.1e-7 PFAM
Pfam:EPTP 396 438 2.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072331
Predicted Effect probably benign
Transcript: ENSMUST00000072331
Predicted Effect probably benign
Transcript: ENSMUST00000164725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165862
Predicted Effect probably benign
Transcript: ENSMUST00000167369
SMART Domains Protein: ENSMUSP00000130245
Gene: ENSMUSG00000057092

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 25 71 5.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169424
Predicted Effect probably benign
Transcript: ENSMUST00000169785
Predicted Effect probably benign
Transcript: ENSMUST00000171359
SMART Domains Protein: ENSMUSP00000128610
Gene: ENSMUSG00000057092

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 23 72 4.9e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172001
SMART Domains Protein: ENSMUSP00000125865
Gene: ENSMUSG00000036560

DomainStartEndE-ValueType
LRRCT 9 58 3.97e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186929
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant animals have an abnormal posture where the forelimbs are flexed and rotated inwards. The peripheral nervous system is delayed in myelination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,977,416 C1406R probably damaging Het
Acp2 T A 2: 91,208,333 probably null Het
Antxr2 A C 5: 97,977,595 probably null Het
Arhgef11 C T 3: 87,683,547 R32C probably damaging Het
Armc6 A T 8: 70,225,220 L153* probably null Het
Btnl2 G T 17: 34,363,239 G260* probably null Het
Ccnf A G 17: 24,226,539 S551P probably benign Het
Cdh19 A G 1: 110,954,652 S37P probably benign Het
Cntnap3 T A 13: 64,762,036 T752S probably damaging Het
Crispld1 A G 1: 17,728,840 M62V probably benign Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dner G T 1: 84,384,026 Q621K probably damaging Het
Dph6 A G 2: 114,535,523 probably null Het
Dpp3 T G 19: 4,918,315 H243P probably benign Het
Eif3j2 T A 18: 43,477,366 K127N probably damaging Het
Esrp1 G A 4: 11,361,202 R315C probably damaging Het
Fam35a T C 14: 34,268,278 R224G probably benign Het
Gm973 A C 1: 59,582,423 H574P probably benign Het
Gprasp1 G A X: 135,800,539 V494I probably benign Het
Hbb-bh1 T A 7: 103,842,810 K66* probably null Het
Hoxb9 T A 11: 96,274,825 M240K probably damaging Het
Irf2 T C 8: 46,807,753 probably null Het
Mylk3 C T 8: 85,355,176 V328M probably benign Het
Nf2 T C 11: 4,848,873 E38G probably null Het
Olfr1286 A C 2: 111,420,312 L213R probably damaging Het
Olfr606 A T 7: 103,451,771 K145* probably null Het
Pdpk1 A G 17: 24,079,638 F346L probably damaging Het
Prex1 T C 2: 166,577,886 Y1120C probably damaging Het
Rab3gap1 A G 1: 127,937,500 T742A probably benign Het
Scai A T 2: 39,099,417 D401E probably benign Het
Scd1 T C 19: 44,398,094 H298R probably damaging Het
Slc45a1 A G 4: 150,638,719 probably benign Het
Smim10l1 G T 6: 133,105,508 R6L probably damaging Het
Spag5 T G 11: 78,320,034 F921C probably damaging Het
Sun1 T C 5: 139,241,431 S667P probably damaging Het
Tas2r124 A G 6: 132,755,561 I278V probably benign Het
Thbs1 G A 2: 118,113,518 D206N probably benign Het
Trim37 T A 11: 87,167,430 probably benign Het
Vcp T C 4: 42,988,728 T249A possibly damaging Het
Vmn2r103 A G 17: 19,793,969 N341S possibly damaging Het
Zmat3 A G 3: 32,345,583 probably benign Het
Other mutations in Lgi4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Lgi4 APN 7 31069043 missense probably benign 0.01
IGL01624:Lgi4 APN 7 31067688 missense probably damaging 1.00
IGL02755:Lgi4 APN 7 31063105 missense probably damaging 1.00
IGL03153:Lgi4 APN 7 31060558 missense probably damaging 1.00
IGL03392:Lgi4 APN 7 31063180 splice site probably null
R0060:Lgi4 UTSW 7 31063571 missense probably damaging 0.97
R0575:Lgi4 UTSW 7 31060093 missense probably benign 0.12
R2139:Lgi4 UTSW 7 31063123 missense probably damaging 1.00
R2276:Lgi4 UTSW 7 31060612 missense probably damaging 1.00
R2277:Lgi4 UTSW 7 31060612 missense probably damaging 1.00
R2278:Lgi4 UTSW 7 31060612 missense probably damaging 1.00
R2939:Lgi4 UTSW 7 31067828 nonsense probably null
R3039:Lgi4 UTSW 7 31060067 missense probably benign
R3922:Lgi4 UTSW 7 31067448 missense probably benign
R4650:Lgi4 UTSW 7 31069129 missense probably benign 0.38
R5184:Lgi4 UTSW 7 31070757 unclassified probably benign
R5583:Lgi4 UTSW 7 31061137 missense possibly damaging 0.92
R5837:Lgi4 UTSW 7 31070783 unclassified probably benign
R5917:Lgi4 UTSW 7 31060178 missense possibly damaging 0.76
R6198:Lgi4 UTSW 7 31069122 unclassified probably null
R6454:Lgi4 UTSW 7 31060132 missense probably benign
R6845:Lgi4 UTSW 7 31061085 missense probably damaging 0.99
R6897:Lgi4 UTSW 7 31068890 missense probably benign 0.00
R7232:Lgi4 UTSW 7 31067351 missense possibly damaging 0.67
R7354:Lgi4 UTSW 7 31060622 missense probably damaging 1.00
R8224:Lgi4 UTSW 7 31063592 missense probably damaging 1.00
Posted On2015-04-16