Incidental Mutation 'IGL02427:Lap3'
ID292940
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lap3
Ensembl Gene ENSMUSG00000039682
Gene Nameleucine aminopeptidase 3
SynonymsPep-7, LAP, peptidase S, Pep-S, Pep7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02427
Quality Score
Status
Chromosome5
Chromosomal Location45493374-45512691 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45511133 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 429 (V429A)
Ref Sequence ENSEMBL: ENSMUSP00000040222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046122]
Predicted Effect probably damaging
Transcript: ENSMUST00000046122
AA Change: V429A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040222
Gene: ENSMUSG00000039682
AA Change: V429A

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Peptidase_M17_N 37 169 1.5e-21 PFAM
Pfam:Peptidase_M17 197 508 1.3e-119 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146811
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,244,788 V647E probably damaging Het
A930011G23Rik C T 5: 99,233,970 G311D probably damaging Het
Ablim1 A T 19: 57,079,880 probably benign Het
Adgrg2 T C X: 160,491,404 F863S probably damaging Het
B3galt2 A T 1: 143,646,516 H130L probably benign Het
Bbs2 G A 8: 94,081,118 P378S possibly damaging Het
Ccdc154 A T 17: 25,171,757 probably null Het
Ccdc88c C T 12: 100,921,592 C1543Y probably damaging Het
Cfap77 A T 2: 28,955,580 C258* probably null Het
Cpsf4l T G 11: 113,709,498 probably benign Het
Csrnp3 G A 2: 65,878,036 probably benign Het
Cul9 G A 17: 46,502,632 T2305I possibly damaging Het
Cwf19l1 G A 19: 44,133,023 Q29* probably null Het
Cwf19l2 G T 9: 3,456,817 V717L probably benign Het
Cyp1a1 A G 9: 57,700,575 Y162C probably damaging Het
Dlg5 T C 14: 24,166,207 D589G probably damaging Het
Dmbt1 G T 7: 131,088,085 probably null Het
Dtna T C 18: 23,651,538 Y705H possibly damaging Het
Fam129a A T 1: 151,717,274 D570V probably damaging Het
Fancd2 T A 6: 113,549,352 probably null Het
Frem2 T A 3: 53,535,763 N2527Y probably damaging Het
Gm7694 T C 1: 170,302,544 D95G probably benign Het
Haus5 T C 7: 30,661,771 T115A probably benign Het
Kdm3a A T 6: 71,592,200 probably benign Het
Klra6 T C 6: 130,016,717 D197G possibly damaging Het
Mroh2b G T 15: 4,951,560 probably benign Het
Myh9 T A 15: 77,775,804 Q88L probably damaging Het
Myo5a T C 9: 75,176,618 probably benign Het
Negr1 C T 3: 156,562,190 probably benign Het
Nlrp9b T G 7: 20,042,501 C337W probably damaging Het
Obscn A T 11: 59,067,162 C3780S probably damaging Het
Olfr378 A T 11: 73,425,661 F107L probably damaging Het
Piwil2 T A 14: 70,398,134 probably benign Het
Ppp6r3 T C 19: 3,466,580 S213G probably null Het
Pxdn T A 12: 29,984,532 C39S probably damaging Het
Raf1 T C 6: 115,631,327 N241S probably benign Het
Rapgef3 A T 15: 97,747,136 probably null Het
Rhox2h C T X: 37,672,873 G72D probably benign Het
Sbf1 T C 15: 89,305,985 probably benign Het
Sema5a T C 15: 32,673,544 probably benign Het
Setbp1 T C 18: 78,857,473 D993G probably damaging Het
Slc5a4b A T 10: 76,058,879 C598S possibly damaging Het
Sorl1 T C 9: 42,041,690 D685G probably damaging Het
Sulf2 C T 2: 166,089,298 R263H probably damaging Het
Tbx22 C A X: 107,681,171 P17T probably damaging Het
Tspoap1 A T 11: 87,762,515 T136S probably benign Het
Tyw5 T C 1: 57,388,725 E240G possibly damaging Het
Umodl1 C T 17: 30,968,441 probably benign Het
Vmn1r60 T C 7: 5,544,781 T107A probably damaging Het
Zbbx T C 3: 75,139,598 T121A probably benign Het
Zbtb11 A G 16: 55,982,350 D241G possibly damaging Het
Zfp445 T C 9: 122,852,230 H882R probably benign Het
Zscan30 T C 18: 23,971,476 noncoding transcript Het
Other mutations in Lap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Lap3 APN 5 45506169 unclassified probably benign
IGL00945:Lap3 APN 5 45504773 unclassified probably null
IGL01694:Lap3 APN 5 45498595 critical splice donor site probably null
IGL02751:Lap3 APN 5 45504796 missense probably damaging 1.00
R0110:Lap3 UTSW 5 45495290 splice site probably benign
R0666:Lap3 UTSW 5 45511928 missense possibly damaging 0.53
R1023:Lap3 UTSW 5 45495211 missense probably benign 0.04
R1157:Lap3 UTSW 5 45507148 missense probably damaging 1.00
R1294:Lap3 UTSW 5 45498521 missense probably benign 0.03
R1449:Lap3 UTSW 5 45509519 critical splice donor site probably null
R1869:Lap3 UTSW 5 45503387 missense probably benign 0.00
R1900:Lap3 UTSW 5 45511910 missense probably damaging 1.00
R1971:Lap3 UTSW 5 45506166 unclassified probably benign
R2009:Lap3 UTSW 5 45493557 missense probably benign 0.37
R4171:Lap3 UTSW 5 45509491 missense probably benign 0.45
R4708:Lap3 UTSW 5 45511138 missense probably damaging 1.00
R4941:Lap3 UTSW 5 45506197 missense probably benign 0.19
R5558:Lap3 UTSW 5 45504751 missense probably benign 0.00
R5761:Lap3 UTSW 5 45504805 missense probably benign 0.01
R5893:Lap3 UTSW 5 45511279 intron probably benign
R6407:Lap3 UTSW 5 45511925 missense probably damaging 1.00
Posted On2015-04-16