Incidental Mutation 'R5184:Lgi4'
ID 397750
Institutional Source Beutler Lab
Gene Symbol Lgi4
Ensembl Gene ENSMUSG00000036560
Gene Name leucine-rich repeat LGI family, member 4
Synonyms clp
MMRRC Submission 042763-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5184 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30758767-30770360 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 30770182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039775] [ENSMUST00000072331] [ENSMUST00000171359] [ENSMUST00000167369]
AlphaFold Q8K1S1
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000165265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169313
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: 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (63/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aph1a T A 3: 95,803,051 (GRCm39) probably null Het
Arid3a A G 10: 79,786,603 (GRCm39) E452G possibly damaging Het
Barhl2 A G 5: 106,605,506 (GRCm39) S68P unknown Het
Carf T C 1: 60,147,333 (GRCm39) S17P probably damaging Het
Ccdc90b A G 7: 92,224,019 (GRCm39) D145G probably damaging Het
Cyp7a1 A T 4: 6,271,207 (GRCm39) N316K probably benign Het
Daam2 A G 17: 49,801,419 (GRCm39) I106T possibly damaging Het
Dmtf1 A G 5: 9,176,641 (GRCm39) V437A probably benign Het
E2f2 A T 4: 135,911,751 (GRCm39) Y254F possibly damaging Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Ern2 T C 7: 121,779,182 (GRCm39) T221A probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fermt1 A G 2: 132,783,883 (GRCm39) V42A possibly damaging Het
Fgf3 A G 7: 144,396,547 (GRCm39) D187G probably damaging Het
Flnb T A 14: 7,901,945 (GRCm38) V936E probably damaging Het
Herc2 T C 7: 55,772,099 (GRCm39) Y1093H probably damaging Het
Invs A G 4: 48,283,242 (GRCm39) probably benign Het
Katnb1 T A 8: 95,824,608 (GRCm39) I534N possibly damaging Het
Kcnq5 A T 1: 21,472,711 (GRCm39) D826E probably damaging Het
Klra9 A T 6: 130,165,675 (GRCm39) N113K probably benign Het
Knl1 A G 2: 118,899,657 (GRCm39) K453E probably damaging Het
Lpin3 A G 2: 160,739,058 (GRCm39) S289G probably benign Het
Mapre1 T A 2: 153,599,987 (GRCm39) V137E possibly damaging Het
Mark4 A G 7: 19,181,168 (GRCm39) F144L possibly damaging Het
Mogat2 G T 7: 98,872,842 (GRCm39) A114E possibly damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Nell2 A G 15: 95,425,690 (GRCm39) L19P possibly damaging Het
Nfia A T 4: 97,671,585 (GRCm39) K98N probably damaging Het
Nutm1 T A 2: 112,079,345 (GRCm39) T857S possibly damaging Het
Or14a257 TG T 7: 86,138,499 (GRCm39) probably null Het
Or52a5 T C 7: 103,426,611 (GRCm39) K314E probably benign Het
Or8g17 T A 9: 38,929,998 (GRCm39) I280F probably damaging Het
Pde10a T C 17: 9,195,987 (GRCm39) L706P probably damaging Het
Penk A G 4: 4,134,296 (GRCm39) L117P probably damaging Het
Pgap1 A G 1: 54,521,015 (GRCm39) S876P probably damaging Het
Pmfbp1 T C 8: 110,254,399 (GRCm39) I478T possibly damaging Het
Pole G A 5: 110,442,800 (GRCm39) E318K possibly damaging Het
Prr12 C A 7: 44,695,801 (GRCm39) V1222L unknown Het
Prune2 T C 19: 17,193,721 (GRCm39) S3070P possibly damaging Het
Rnf19a A G 15: 36,244,342 (GRCm39) C573R probably benign Het
Rp1l1 T C 14: 64,267,629 (GRCm39) S1072P probably damaging Het
Rskr T C 11: 78,183,573 (GRCm39) F194L probably benign Het
Semp2l1 A T 1: 32,584,729 (GRCm39) C394S probably damaging Het
Sh3pxd2a T C 19: 47,261,850 (GRCm39) N315S possibly damaging Het
Snph T C 2: 151,436,464 (GRCm39) I86V probably damaging Het
Sox6 A G 7: 115,376,463 (GRCm39) Y90H probably damaging Het
Tbc1d13 T A 2: 30,032,323 (GRCm39) C145S probably benign Het
Tcp11l1 T C 2: 104,530,289 (GRCm39) E65G probably damaging Het
Thrb G T 14: 18,011,181 (GRCm38) E186* probably null Het
Tmem101 A G 11: 102,047,059 (GRCm39) Y38H possibly damaging Het
Trarg1 T A 11: 76,571,134 (GRCm39) L50Q probably damaging Het
Urb1 A T 16: 90,580,162 (GRCm39) probably null Het
Usp10 G A 8: 120,683,420 (GRCm39) V764I possibly damaging Het
Usp25 A G 16: 76,906,115 (GRCm39) E857G probably benign Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Wdr35 T C 12: 9,068,142 (GRCm39) L775P probably damaging Het
Xpnpep1 T C 19: 53,001,845 (GRCm39) T134A probably benign Het
Zbtb10 T C 3: 9,329,731 (GRCm39) V363A probably damaging Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N 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
IGL03153:Lgi4 APN 7 30,759,983 (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
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
Predicted Primers PCR Primer
(F):5'- AAAGAGCCTGCTACCACGAG -3'
(R):5'- AGCCTGAGACTCCTTTAGCC -3'

Sequencing Primer
(F):5'- TGCTACCACGAGGGGTG -3'
(R):5'- TGAGACTCCTTTAGCCCTGAGG -3'
Posted On 2016-07-06