Incidental Mutation 'R6454:Lgi4'
ID 519476
Institutional Source Beutler Lab
Gene Symbol Lgi4
Ensembl Gene ENSMUSG00000036560
Gene Name leucine-rich repeat LGI family, member 4
Synonyms clp
MMRRC Submission 044590-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6454 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30758767-30770360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30759557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 38 (T38S)
Ref Sequence ENSEMBL: ENSMUSP00000041579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039775] [ENSMUST00000039909] [ENSMUST00000164725] [ENSMUST00000169785] [ENSMUST00000206328] [ENSMUST00000206305] [ENSMUST00000205807] [ENSMUST00000206474] [ENSMUST00000205439]
AlphaFold Q8K1S1
Predicted Effect probably benign
Transcript: ENSMUST00000039775
AA Change: T38S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560
AA Change: T38S

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: ENSMUST00000206328
Predicted Effect probably benign
Transcript: ENSMUST00000206305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206522
Predicted Effect probably benign
Transcript: ENSMUST00000205807
Predicted Effect probably benign
Transcript: ENSMUST00000206474
Predicted Effect probably benign
Transcript: ENSMUST00000205439
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.1%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l G T 8: 44,079,845 (GRCm39) N126K probably damaging Het
Arid2 C T 15: 96,270,294 (GRCm39) T1469I probably benign Het
Atp12a A G 14: 56,608,290 (GRCm39) T93A probably benign Het
Atp8a2 A T 14: 60,245,948 (GRCm39) probably null Het
Casz1 A T 4: 149,035,952 (GRCm39) I1405F probably damaging Het
Chrnb3 T C 8: 27,883,403 (GRCm39) S100P probably damaging Het
Creld2 T A 15: 88,707,274 (GRCm39) C197* probably null Het
Csmd1 A T 8: 15,971,150 (GRCm39) F3055Y probably damaging Het
Dnah11 T A 12: 117,880,590 (GRCm39) E3843D probably benign Het
Dnah14 T C 1: 181,611,270 (GRCm39) S3799P probably damaging Het
Dpp9 A T 17: 56,513,808 (GRCm39) L102Q probably damaging Het
Eipr1 T G 12: 28,914,761 (GRCm39) I305S probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Faf1 G T 4: 109,699,531 (GRCm39) A359S probably benign Het
Fam13b A G 18: 34,590,715 (GRCm39) probably null Het
Gm14496 A T 2: 181,638,015 (GRCm39) N363I probably damaging Het
Grm8 T G 6: 27,363,775 (GRCm39) H580P possibly damaging Het
Itih5 T C 2: 10,245,479 (GRCm39) F523L probably benign Het
Klhl1 A T 14: 96,517,527 (GRCm39) M383K possibly damaging Het
Myh13 T A 11: 67,241,191 (GRCm39) M856K probably benign Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nlrp9c G A 7: 26,085,199 (GRCm39) R127C possibly damaging Het
Notch2 T C 3: 98,044,722 (GRCm39) I1548T possibly damaging Het
Nphs2 T A 1: 156,146,337 (GRCm39) H179Q probably damaging Het
Nup153 T C 13: 46,863,136 (GRCm39) probably null Het
Nup50l T G 6: 96,142,609 (GRCm39) H145P possibly damaging Het
Odf2l C A 3: 144,859,181 (GRCm39) Q517K possibly damaging Het
Omd A T 13: 49,743,345 (GRCm39) I132F probably damaging Het
Or10d1b A G 9: 39,613,130 (GRCm39) *312Q probably null Het
Or4a81 T C 2: 89,619,522 (GRCm39) Y58C probably damaging Het
Or5b12 T A 19: 12,897,395 (GRCm39) N93Y probably benign Het
Or9g19 A G 2: 85,600,717 (GRCm39) K191E probably benign Het
Otog A G 7: 45,955,241 (GRCm39) N544D probably damaging Het
Ovol3 A G 7: 29,934,800 (GRCm39) Y29H probably damaging Het
Papolb T C 5: 142,515,353 (GRCm39) K97E possibly damaging Het
Pcdhb19 G T 18: 37,632,322 (GRCm39) V706L probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plekhm1 G A 11: 103,268,208 (GRCm39) R588C probably damaging Het
Pnpla6 G T 8: 3,587,986 (GRCm39) V1062L probably damaging Het
Ppp1r9a T A 6: 4,905,827 (GRCm39) F127L probably damaging Het
Rigi T A 4: 40,220,456 (GRCm39) I476F probably damaging Het
Rnf5 A C 17: 34,821,283 (GRCm39) C47W probably damaging Het
Sbno1 A T 5: 124,538,910 (GRCm39) M517K probably damaging Het
Slc44a5 C T 3: 153,948,796 (GRCm39) T188M probably benign Het
Smco1 A G 16: 32,092,041 (GRCm39) T40A possibly damaging Het
Speer4f2 A T 5: 17,579,431 (GRCm39) I77F probably damaging Het
Spem2 A G 11: 69,708,254 (GRCm39) L237P probably damaging Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Tent5b A G 4: 133,207,720 (GRCm39) D37G probably damaging Het
Tiam2 A T 17: 3,488,938 (GRCm39) T749S probably benign Het
Tln1 T C 4: 43,533,866 (GRCm39) K2291E probably damaging Het
Tm6sf1 A G 7: 81,525,801 (GRCm39) M294V probably damaging Het
Tmem35b T C 4: 127,022,811 (GRCm39) *138R probably null Het
Tpst1 A G 5: 130,130,892 (GRCm39) K121E possibly damaging Het
Tsc22d2 T A 3: 58,323,261 (GRCm39) V51D possibly damaging Het
Tshr C A 12: 91,505,323 (GRCm39) Q754K probably benign Het
Ttc38 T A 15: 85,723,023 (GRCm39) M157K probably damaging Het
Ube2g2 T G 10: 77,470,580 (GRCm39) probably benign Het
Ugt2b37 T G 5: 87,388,836 (GRCm39) D459A probably damaging Het
Usp35 A T 7: 96,960,851 (GRCm39) Y858* probably null Het
Usp35 A T 7: 96,960,767 (GRCm39) N886K probably damaging Het
Wdr33 T C 18: 31,963,028 (GRCm39) V125A possibly damaging Het
Xpnpep1 G A 19: 52,986,310 (GRCm39) T506I possibly damaging 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
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
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'- CAGCCTGGTCAGTAGCAAGATC -3'
(R):5'- TTTCCAAATCTTTCAGACAGGC -3'

Sequencing Primer
(F):5'- CATCCCACGGAGATGTAGTG -3'
(R):5'- CAGACAGGCTGGAATTCTTTG -3'
Posted On 2018-05-24