Incidental Mutation 'IGL01521:Napsa'
ID90512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Napsa
Ensembl Gene ENSMUSG00000002204
Gene Namenapsin A aspartic peptidase
SynonymsKdap, NAP1, napsin, pronapsin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01521
Quality Score
Status
Chromosome7
Chromosomal Location44572380-44586862 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44586637 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 367 (I367F)
Ref Sequence ENSEMBL: ENSMUSP00000002274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002274] [ENSMUST00000107906] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000208514] [ENSMUST00000208651] [ENSMUST00000209177]
Predicted Effect probably damaging
Transcript: ENSMUST00000002274
AA Change: I367F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: I367F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Asp 72 396 6.6e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107906
SMART Domains Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785

DomainStartEndE-ValueType
Pfam:Potassium_chann 1 21 8e-9 PFAM
BTB 90 194 4.38e-12 SMART
low complexity region 211 243 N/A INTRINSIC
low complexity region 251 267 N/A INTRINSIC
Pfam:Ion_trans 290 551 4.1e-45 PFAM
Pfam:Ion_trans_2 451 544 8.2e-12 PFAM
low complexity region 578 605 N/A INTRINSIC
low complexity region 622 650 N/A INTRINSIC
low complexity region 730 746 N/A INTRINSIC
low complexity region 750 767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107907
SMART Domains Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
BTB 90 194 4.38e-12 SMART
low complexity region 211 243 N/A INTRINSIC
low complexity region 251 267 N/A INTRINSIC
Pfam:Ion_trans 351 539 1.5e-31 PFAM
Pfam:Ion_trans_2 450 544 2.4e-11 PFAM
low complexity region 578 605 N/A INTRINSIC
low complexity region 622 650 N/A INTRINSIC
low complexity region 729 745 N/A INTRINSIC
low complexity region 749 766 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207302
Predicted Effect probably benign
Transcript: ENSMUST00000207493
Predicted Effect probably benign
Transcript: ENSMUST00000208514
Predicted Effect probably benign
Transcript: ENSMUST00000208651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209101
Predicted Effect probably benign
Transcript: ENSMUST00000209177
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A T 8: 111,043,787 I406F possibly damaging Het
Adgrb2 A G 4: 129,992,292 E75G probably damaging Het
Als2cr12 T G 1: 58,670,394 K201Q probably damaging Het
Angptl2 T C 2: 33,246,203 Y467H probably damaging Het
Arap1 G T 7: 101,400,605 probably null Het
Arfgap1 G A 2: 180,971,578 C22Y probably damaging Het
Artn G A 4: 117,927,287 P25S probably damaging Het
Bicra G T 7: 15,989,188 Q135K probably benign Het
Clpx T C 9: 65,318,744 V367A probably damaging Het
Clstn3 C T 6: 124,458,031 W308* probably null Het
Cpb2 T A 14: 75,257,631 V67D probably damaging Het
Cyp2c38 A G 19: 39,460,670 Y80H probably damaging Het
Dbt A G 3: 116,533,383 D127G probably benign Het
Fhod1 G A 8: 105,330,423 A973V probably benign Het
Focad A T 4: 88,410,690 *1713C probably null Het
Gemin5 A T 11: 58,134,918 probably benign Het
Gpr22 C T 12: 31,708,710 probably benign Het
Ikbkap T A 4: 56,771,059 E961D probably benign Het
Kif23 T A 9: 61,919,900 T890S probably damaging Het
Kmt5b T A 19: 3,786,618 S52T possibly damaging Het
Lipo1 A T 19: 33,785,683 D53E probably damaging Het
Lrrc14b G A 13: 74,363,572 R130C probably damaging Het
Myt1 T A 2: 181,825,911 I1046K probably damaging Het
Olfr1107 C T 2: 87,071,733 V134I probably benign Het
Olfr923 A T 9: 38,827,889 Y66F probably damaging Het
Rgcc T G 14: 79,300,745 S69R probably damaging Het
Rin3 T A 12: 102,369,048 I326N probably benign Het
Sipa1 C A 19: 5,660,978 M1I probably null Het
Sirpb1a T A 3: 15,410,501 M325L probably benign Het
Sult1a1 C A 7: 126,675,279 V71F possibly damaging Het
Tgds G T 14: 118,113,094 P349Q probably damaging Het
Tmem63c T A 12: 87,069,144 H186Q probably damaging Het
Trappc9 A G 15: 73,052,167 L242S probably damaging Het
Trip12 T A 1: 84,766,198 probably benign Het
Zfp451 T C 1: 33,777,331 probably null Het
Other mutations in Napsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Napsa APN 7 44581421 missense probably benign 0.00
IGL01380:Napsa APN 7 44586674 missense probably damaging 0.99
IGL01630:Napsa APN 7 44586665 missense probably damaging 1.00
IGL01862:Napsa APN 7 44582493 missense probably damaging 0.99
IGL01935:Napsa APN 7 44586622 missense probably benign 0.01
IGL02421:Napsa APN 7 44585055 missense probably damaging 1.00
IGL02831:Napsa APN 7 44586760 missense probably benign
IGL03008:Napsa APN 7 44585796 missense possibly damaging 0.77
PIT4131001:Napsa UTSW 7 44581451 missense probably damaging 1.00
R0422:Napsa UTSW 7 44585106 missense probably damaging 1.00
R1542:Napsa UTSW 7 44581689 missense probably damaging 1.00
R1564:Napsa UTSW 7 44586649 missense probably damaging 1.00
R1903:Napsa UTSW 7 44581736 missense probably damaging 1.00
R1964:Napsa UTSW 7 44581685 missense probably benign 0.01
R2366:Napsa UTSW 7 44582485 missense probably damaging 1.00
R3713:Napsa UTSW 7 44581428 missense probably damaging 1.00
R5441:Napsa UTSW 7 44581393 unclassified probably benign
R5512:Napsa UTSW 7 44572616 start codon destroyed probably null 0.01
R5682:Napsa UTSW 7 44585344 missense possibly damaging 0.92
R6290:Napsa UTSW 7 44581337 missense probably benign 0.00
R7046:Napsa UTSW 7 44585085 missense probably damaging 1.00
R7134:Napsa UTSW 7 44585735 missense probably benign 0.04
R7677:Napsa UTSW 7 44581706 nonsense probably null
Posted On2013-12-09