Incidental Mutation 'IGL02079:Npepl1'
ID 186075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npepl1
Ensembl Gene ENSMUSG00000039263
Gene Name aminopeptidase-like 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # IGL02079
Quality Score
Status
Chromosome 2
Chromosomal Location 173951904-173964495 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 173961183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000044415]
AlphaFold Q6NSR8
Predicted Effect probably benign
Transcript: ENSMUST00000044415
SMART Domains Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
Pfam:Peptidase_M17 179 484 1.9e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125502
SMART Domains Protein: ENSMUSP00000133202
Gene: ENSMUSG00000039263

DomainStartEndE-ValueType
Pfam:Peptidase_M17 104 207 4.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153957
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T C 2: 31,579,960 (GRCm39) probably benign Het
Ago4 A T 4: 126,410,877 (GRCm39) M204K probably damaging Het
Alms1 T C 6: 85,605,616 (GRCm39) V2422A probably damaging Het
Ap5z1 T C 5: 142,462,868 (GRCm39) probably null Het
Arsa T C 15: 89,357,554 (GRCm39) T470A probably benign Het
Bri3bp T C 5: 125,531,753 (GRCm39) V233A probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Elapor1 T A 3: 108,388,675 (GRCm39) N236I possibly damaging Het
Ephb6 T A 6: 41,592,948 (GRCm39) D395E possibly damaging Het
Flt1 T A 5: 147,505,641 (GRCm39) probably benign Het
Fry A T 5: 150,323,089 (GRCm39) N1080I probably damaging Het
Gdpgp1 T A 7: 79,888,768 (GRCm39) D266E probably benign Het
Gspt1 A G 16: 11,058,693 (GRCm39) S123P probably benign Het
Kctd17 T C 15: 78,314,356 (GRCm39) probably benign Het
Lamb2 T A 9: 108,359,312 (GRCm39) C313S probably damaging Het
Lcor T A 19: 41,544,126 (GRCm39) S106R probably benign Het
Lgr5 A C 10: 115,288,099 (GRCm39) S776R probably damaging Het
Mettl16 T G 11: 74,708,450 (GRCm39) C510G probably damaging Het
Mlip T C 9: 77,146,811 (GRCm39) T101A possibly damaging Het
Myh6 A T 14: 55,187,998 (GRCm39) L1152Q probably damaging Het
Mylk G A 16: 34,681,001 (GRCm39) R87H possibly damaging Het
Nrxn1 A T 17: 90,950,511 (GRCm39) M548K probably damaging Het
Or10a48 T A 7: 108,425,143 (GRCm39) E21V probably damaging Het
Or4c11c T A 2: 88,661,991 (GRCm39) C177S probably damaging Het
Pate3 T A 9: 35,557,449 (GRCm39) Q69L probably damaging Het
Piwil1 T C 5: 128,819,067 (GRCm39) V192A possibly damaging Het
Plcxd2 A T 16: 45,792,706 (GRCm39) I211N probably benign Het
Plekhg3 T A 12: 76,607,203 (GRCm39) Y88N probably benign Het
Rabgap1l C T 1: 160,566,540 (GRCm39) C58Y probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rusc2 A G 4: 43,425,668 (GRCm39) S1258G probably benign Het
Scn1a T C 2: 66,153,704 (GRCm39) R710G probably benign Het
Wwc1 A G 11: 35,766,885 (GRCm39) S457P probably damaging Het
Xdh C T 17: 74,198,272 (GRCm39) G1205D probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp592 T C 7: 80,688,978 (GRCm39) S1080P probably benign Het
Other mutations in Npepl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Npepl1 APN 2 173,962,341 (GRCm39) missense probably damaging 1.00
IGL01651:Npepl1 APN 2 173,956,181 (GRCm39) splice site probably benign
IGL01998:Npepl1 APN 2 173,957,993 (GRCm39) splice site probably benign
R0081:Npepl1 UTSW 2 173,957,879 (GRCm39) missense probably damaging 1.00
R1236:Npepl1 UTSW 2 173,956,273 (GRCm39) critical splice donor site probably null
R2350:Npepl1 UTSW 2 173,953,566 (GRCm39) missense probably benign
R3780:Npepl1 UTSW 2 173,962,447 (GRCm39) missense probably damaging 1.00
R3950:Npepl1 UTSW 2 173,962,906 (GRCm39) missense probably damaging 1.00
R4688:Npepl1 UTSW 2 173,956,235 (GRCm39) missense possibly damaging 0.78
R5650:Npepl1 UTSW 2 173,963,329 (GRCm39) missense possibly damaging 0.83
R5916:Npepl1 UTSW 2 173,963,337 (GRCm39) missense probably benign 0.01
R6007:Npepl1 UTSW 2 173,962,850 (GRCm39) missense probably benign 0.03
R6487:Npepl1 UTSW 2 173,953,525 (GRCm39) missense probably benign 0.16
R7267:Npepl1 UTSW 2 173,963,909 (GRCm39) missense probably damaging 1.00
R7881:Npepl1 UTSW 2 173,962,387 (GRCm39) missense probably damaging 1.00
R8103:Npepl1 UTSW 2 173,953,002 (GRCm39) missense probably benign 0.00
R9547:Npepl1 UTSW 2 173,962,030 (GRCm39) missense probably null 0.88
R9740:Npepl1 UTSW 2 173,963,283 (GRCm39) missense probably damaging 0.99
Z1177:Npepl1 UTSW 2 173,963,923 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07