Incidental Mutation 'IGL01651:Npepl1'
ID 102848
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 # IGL01651
Quality Score
Status
Chromosome 2
Chromosomal Location 173951904-173964495 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 173956181 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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T C 2: 181,136,531 (GRCm39) probably benign Het
Alms1 T A 6: 85,633,458 (GRCm39) V2980E probably benign Het
Anxa7 A G 14: 20,506,569 (GRCm39) L457P probably damaging Het
Asic2 T C 11: 80,784,856 (GRCm39) D310G probably damaging Het
Btbd9 T C 17: 30,439,391 (GRCm39) S599G unknown Het
Col25a1 G A 3: 130,360,134 (GRCm39) M487I probably benign Het
Ddx42 T A 11: 106,138,855 (GRCm39) F885I probably benign Het
Foxi3 T C 6: 70,933,975 (GRCm39) V154A probably damaging Het
Golga3 A C 5: 110,340,771 (GRCm39) probably null Het
Igdcc4 T C 9: 65,031,394 (GRCm39) V491A possibly damaging Het
Kcnh7 T A 2: 62,564,628 (GRCm39) D877V possibly damaging Het
Kcnu1 A G 8: 26,351,123 (GRCm39) D162G probably damaging Het
Morc2a T C 11: 3,608,727 (GRCm39) probably null Het
Ndufv2 T C 17: 66,396,466 (GRCm39) N47S possibly damaging Het
Or6k4 A T 1: 173,964,907 (GRCm39) D199V probably damaging Het
Otud7b C T 3: 96,060,807 (GRCm39) Q441* probably null Het
Pard3b A C 1: 62,518,963 (GRCm39) probably benign Het
Pfkfb3 T C 2: 11,494,495 (GRCm39) E143G probably damaging Het
Pphln1 C A 15: 93,386,864 (GRCm39) Q321K probably damaging Het
Rnf121 A G 7: 101,691,862 (GRCm39) S2P probably damaging Het
Slc25a42 G A 8: 70,639,250 (GRCm39) R276C possibly damaging Het
Smgc T C 15: 91,743,986 (GRCm39) probably benign Het
Tdrd5 C T 1: 156,129,397 (GRCm39) M104I probably benign Het
Vmn2r26 T A 6: 124,027,632 (GRCm39) N457K probably benign Het
Zfp474 T C 18: 52,771,655 (GRCm39) S103P probably damaging Het
Zfp53 A G 17: 21,728,348 (GRCm39) N127S probably benign Het
Other mutations in Npepl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Npepl1 APN 2 173,962,341 (GRCm39) missense probably damaging 1.00
IGL01998:Npepl1 APN 2 173,957,993 (GRCm39) splice site probably benign
IGL02079:Npepl1 APN 2 173,961,183 (GRCm39) intron 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 2014-01-21