Incidental Mutation 'IGL00235:Npepl1'
ID2476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npepl1
Ensembl Gene ENSMUSG00000039263
Gene Nameaminopeptidase-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #IGL00235
Quality Score
Status
Chromosome2
Chromosomal Location174110349-174123070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 174120548 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 336 (V336L)
Ref Sequence ENSEMBL: ENSMUSP00000042808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044415]
Predicted Effect probably damaging
Transcript: ENSMUST00000044415
AA Change: V336L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: V336L

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: ENSMUST00000131346
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 G A 16: 35,253,213 E454K possibly damaging Het
Agl T C 3: 116,771,483 H1039R probably benign Het
Akap3 T C 6: 126,865,731 F438L probably benign Het
Casp1 A T 9: 5,299,872 probably benign Het
Cnih2 G T 19: 5,098,273 probably benign Het
Dchs1 G A 7: 105,758,743 R1961C probably damaging Het
Defb21 G A 2: 152,574,792 V63I probably benign Het
Elovl6 T A 3: 129,628,376 N105K probably benign Het
Fam83e A T 7: 45,727,069 E402V probably benign Het
Fat4 T A 3: 38,982,249 I3350N probably damaging Het
Gmpr2 C A 14: 55,675,714 F149L probably damaging Het
Gucy1b2 C A 14: 62,406,245 V636F probably damaging Het
Hapln1 A C 13: 89,608,142 Y355S probably benign Het
Hoxb13 G T 11: 96,194,642 C67F possibly damaging Het
Hspa12b T A 2: 131,134,120 I14N probably damaging Het
Ighe C A 12: 113,271,515 V342L unknown Het
Ighv1-49 A T 12: 115,055,456 S21T possibly damaging Het
Klhl17 A G 4: 156,233,862 I101T possibly damaging Het
Lrrd1 T G 5: 3,850,573 L293V possibly damaging Het
Lyrm4 T A 13: 36,092,882 K44M probably damaging Het
Med15 G T 16: 17,680,726 P101T probably damaging Het
Mgat4c A T 10: 102,388,720 H265L probably damaging Het
Mme T A 3: 63,340,044 I250N possibly damaging Het
Mxra8 C A 4: 155,842,563 T318N probably benign Het
Nlrp9b G A 7: 20,023,278 V147I probably benign Het
Olfr382 G A 11: 73,516,410 S263L possibly damaging Het
Pank2 T C 2: 131,274,169 I169T possibly damaging Het
Pkhd1l1 A T 15: 44,556,019 H2960L probably damaging Het
Pnpla8 A G 12: 44,283,069 R135G probably benign Het
Prdm8 T G 5: 98,183,343 V18G probably damaging Het
Rhox7b G T X: 37,889,662 P231T probably damaging Het
Rnf121 A T 7: 102,065,115 probably benign Het
Skap1 T C 11: 96,489,910 F45S probably damaging Het
Slc4a5 T A 6: 83,285,899 L791Q probably damaging Het
Ssh1 T C 5: 113,942,576 D931G probably damaging Het
Tmem8 T C 17: 26,117,519 S204P probably damaging Het
Txndc16 T C 14: 45,162,350 Y382C probably damaging Het
Uhrf2 T C 19: 30,073,946 F307L probably benign Het
Zfhx2 C A 14: 55,063,257 A2346S probably benign Het
Other mutations in Npepl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01651:Npepl1 APN 2 174114388 splice site probably benign
IGL01998:Npepl1 APN 2 174116200 splice site probably benign
IGL02079:Npepl1 APN 2 174119390 intron probably benign
R0081:Npepl1 UTSW 2 174116086 missense probably damaging 1.00
R1236:Npepl1 UTSW 2 174114480 critical splice donor site probably null
R2350:Npepl1 UTSW 2 174111773 missense probably benign
R3780:Npepl1 UTSW 2 174120654 missense probably damaging 1.00
R3950:Npepl1 UTSW 2 174121113 missense probably damaging 1.00
R4688:Npepl1 UTSW 2 174114442 missense possibly damaging 0.78
R5650:Npepl1 UTSW 2 174121536 missense possibly damaging 0.83
R5916:Npepl1 UTSW 2 174121544 missense probably benign 0.01
R6007:Npepl1 UTSW 2 174121057 missense probably benign 0.03
R6487:Npepl1 UTSW 2 174111732 missense probably benign 0.16
R7267:Npepl1 UTSW 2 174122116 missense probably damaging 1.00
R7881:Npepl1 UTSW 2 174120594 missense probably damaging 1.00
R8103:Npepl1 UTSW 2 174111209 missense probably benign 0.00
Z1177:Npepl1 UTSW 2 174122130 missense probably benign 0.00
Posted On2011-12-09