Incidental Mutation 'IGL03153:Lgi4'
ID 411141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgi4
Ensembl Gene ENSMUSG00000036560
Gene Name leucine-rich repeat LGI family, member 4
Synonyms clp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03153
Quality Score
Status
Chromosome 7
Chromosomal Location 30758767-30770360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30759983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 60 (V60F)
Ref Sequence ENSEMBL: ENSMUSP00000041579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039775] [ENSMUST00000039909] [ENSMUST00000164725] [ENSMUST00000169785] [ENSMUST00000206474] [ENSMUST00000205807] [ENSMUST00000206305] [ENSMUST00000205439]
AlphaFold Q8K1S1
Predicted Effect probably damaging
Transcript: ENSMUST00000039775
AA Change: V60F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560
AA Change: V60F

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: ENSMUST00000039909
SMART Domains Protein: ENSMUSP00000048460
Gene: ENSMUSG00000036570

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ATP1G1_PLM_MAT8 23 72 1.1e-31 PFAM
low complexity region 81 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164725
Predicted Effect probably benign
Transcript: ENSMUST00000169785
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: ENSMUST00000205392
Predicted Effect probably benign
Transcript: ENSMUST00000206474
Predicted Effect probably benign
Transcript: ENSMUST00000205807
Predicted Effect probably benign
Transcript: ENSMUST00000206305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206522
Predicted Effect probably benign
Transcript: ENSMUST00000205439
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,563 (GRCm39) E419G possibly damaging Het
Abcg3 A G 5: 105,122,631 (GRCm39) probably benign Het
Adam17 T C 12: 21,395,698 (GRCm39) D256G probably damaging Het
Adgrb3 G A 1: 25,570,978 (GRCm39) R500* probably null Het
Aldh3a2 A G 11: 61,149,665 (GRCm39) Y234H probably damaging Het
Alpk3 A G 7: 80,743,143 (GRCm39) T987A probably benign Het
Amtn A G 5: 88,532,828 (GRCm39) K148E possibly damaging Het
Asap1 G A 15: 64,032,123 (GRCm39) T237M probably damaging Het
Ccdc124 A T 8: 71,321,573 (GRCm39) probably null Het
Cdon T C 9: 35,389,255 (GRCm39) Y787H probably damaging Het
Cimip4 T C 15: 78,269,516 (GRCm39) D188G probably damaging Het
Coro7 A G 16: 4,453,246 (GRCm39) probably null Het
Dram2 T A 3: 106,462,490 (GRCm39) probably benign Het
Drd5 T C 5: 38,477,124 (GRCm39) V39A probably benign Het
Ern1 A G 11: 106,300,924 (GRCm39) L490P possibly damaging Het
Fat1 A G 8: 45,483,160 (GRCm39) T3083A possibly damaging Het
Irgm1 A G 11: 48,757,094 (GRCm39) I239T probably damaging Het
Klhl10 A T 11: 100,347,758 (GRCm39) T605S probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Lmf1 A G 17: 25,804,624 (GRCm39) S97G possibly damaging Het
Oasl2 A G 5: 115,039,393 (GRCm39) T194A probably benign Het
Or5ac17 A G 16: 59,036,566 (GRCm39) S137P probably benign Het
Pnpo A T 11: 96,834,661 (GRCm39) F12I probably damaging Het
Prdm4 T C 10: 85,743,860 (GRCm39) T132A probably benign Het
Ptbp2 T C 3: 119,545,593 (GRCm39) T118A probably benign Het
Ptf1a T A 2: 19,451,456 (GRCm39) probably benign Het
Rev3l T A 10: 39,682,874 (GRCm39) F331I probably damaging Het
Rfx6 C A 10: 51,599,217 (GRCm39) S524* probably null Het
Scube3 A G 17: 28,386,032 (GRCm39) S758G possibly damaging Het
Slc44a2 T C 9: 21,254,496 (GRCm39) I257T probably benign Het
Spon1 A T 7: 113,629,579 (GRCm39) I408F probably damaging Het
Srpk1 C A 17: 28,811,240 (GRCm39) D541Y possibly damaging Het
Tenm4 A T 7: 96,522,969 (GRCm39) I1467F probably damaging Het
Uggt1 A C 1: 36,241,899 (GRCm39) V345G possibly damaging Het
Vmn1r23 A T 6: 57,902,917 (GRCm39) I287K probably damaging Het
Whamm A G 7: 81,239,280 (GRCm39) probably benign Het
Zeb1 A G 18: 5,770,511 (GRCm39) D888G probably damaging Het
Zfp263 A G 16: 3,564,744 (GRCm39) N253S possibly damaging Het
Zfp446 C A 7: 12,711,834 (GRCm39) A19E probably benign Het
Other mutations in Lgi4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Lgi4 APN 7 30,768,468 (GRCm39) missense probably benign 0.01
IGL01624:Lgi4 APN 7 30,767,113 (GRCm39) missense probably damaging 1.00
IGL02251:Lgi4 APN 7 30,766,688 (GRCm39) splice site probably null
IGL02755:Lgi4 APN 7 30,762,530 (GRCm39) missense probably damaging 1.00
IGL03392:Lgi4 APN 7 30,762,605 (GRCm39) splice site probably null
R0060:Lgi4 UTSW 7 30,762,996 (GRCm39) missense probably damaging 0.97
R0575:Lgi4 UTSW 7 30,759,518 (GRCm39) missense probably benign 0.12
R2139:Lgi4 UTSW 7 30,762,548 (GRCm39) missense probably damaging 1.00
R2276:Lgi4 UTSW 7 30,760,037 (GRCm39) missense probably damaging 1.00
R2277:Lgi4 UTSW 7 30,760,037 (GRCm39) missense probably damaging 1.00
R2278:Lgi4 UTSW 7 30,760,037 (GRCm39) missense probably damaging 1.00
R2939:Lgi4 UTSW 7 30,767,253 (GRCm39) nonsense probably null
R3039:Lgi4 UTSW 7 30,759,492 (GRCm39) missense probably benign
R3922:Lgi4 UTSW 7 30,766,873 (GRCm39) missense probably benign
R4650:Lgi4 UTSW 7 30,768,554 (GRCm39) missense probably benign 0.38
R5184:Lgi4 UTSW 7 30,770,182 (GRCm39) unclassified probably benign
R5583:Lgi4 UTSW 7 30,760,562 (GRCm39) missense possibly damaging 0.92
R5837:Lgi4 UTSW 7 30,770,208 (GRCm39) unclassified probably benign
R5917:Lgi4 UTSW 7 30,759,603 (GRCm39) missense possibly damaging 0.76
R6198:Lgi4 UTSW 7 30,768,547 (GRCm39) splice site probably null
R6454:Lgi4 UTSW 7 30,759,557 (GRCm39) missense probably benign
R6845:Lgi4 UTSW 7 30,760,510 (GRCm39) missense probably damaging 0.99
R6897:Lgi4 UTSW 7 30,768,315 (GRCm39) missense probably benign 0.00
R7232:Lgi4 UTSW 7 30,766,776 (GRCm39) missense possibly damaging 0.67
R7354:Lgi4 UTSW 7 30,760,047 (GRCm39) missense probably damaging 1.00
R8224:Lgi4 UTSW 7 30,763,017 (GRCm39) missense probably damaging 1.00
R8257:Lgi4 UTSW 7 30,766,766 (GRCm39) critical splice acceptor site probably null
R8320:Lgi4 UTSW 7 30,768,366 (GRCm39) missense probably benign 0.14
R8440:Lgi4 UTSW 7 30,760,049 (GRCm39) critical splice donor site probably null
R8469:Lgi4 UTSW 7 30,767,065 (GRCm39) missense probably damaging 1.00
R9066:Lgi4 UTSW 7 30,759,446 (GRCm39) start codon destroyed probably benign
R9763:Lgi4 UTSW 7 30,760,020 (GRCm39) missense probably damaging 1.00
Z1186:Lgi4 UTSW 7 30,768,596 (GRCm39) missense probably benign 0.09
Posted On 2016-08-02