Incidental Mutation 'R2939:Lgi4'
ID 264573
Institutional Source Beutler Lab
Gene Symbol Lgi4
Ensembl Gene ENSMUSG00000036560
Gene Name leucine-rich repeat LGI family, member 4
Synonyms clp
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2939 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30758767-30770360 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 30767253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 427 (R427*)
Ref Sequence ENSEMBL: ENSMUSP00000041579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039775] [ENSMUST00000072331] [ENSMUST00000164725] [ENSMUST00000169785] [ENSMUST00000167369] [ENSMUST00000171359]
AlphaFold Q8K1S1
Predicted Effect probably null
Transcript: ENSMUST00000039775
AA Change: R427*
SMART Domains Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560
AA Change: R427*

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: ENSMUST00000186839
Predicted Effect probably benign
Transcript: ENSMUST00000169785
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169424
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 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S 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
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
Predicted Primers PCR Primer
(F):5'- AATGATGCCGAGCTCCTCTG -3'
(R):5'- AGCCAGCCTGGACTATATATTAAG -3'

Sequencing Primer
(F):5'- AGCTCCTCTGGCTGGATG -3'
(R):5'- TTGCCCAGAATTCAGCATGG -3'
Posted On 2015-02-05