Incidental Mutation 'IGL01630:Napsa'
| ID |
92892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Napsa
|
| Ensembl Gene |
ENSMUSG00000002204 |
| Gene Name |
napsin A aspartic peptidase |
| Synonyms |
Kdap, napsin, NAP1, pronapsin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL01630
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44221869-44236270 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44236089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 376
(Y376C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002274]
[ENSMUST00000107906]
[ENSMUST00000107907]
[ENSMUST00000207493]
[ENSMUST00000208514]
[ENSMUST00000208651]
[ENSMUST00000209177]
|
| AlphaFold |
O09043 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002274
AA Change: Y376C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: Y376C
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000209101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208651
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,069,171 (GRCm39) |
T207A |
possibly damaging |
Het |
| Ak8 |
T |
A |
2: 28,602,291 (GRCm39) |
M75K |
probably benign |
Het |
| Aldh1a7 |
A |
T |
19: 20,673,693 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,879 (GRCm39) |
T154I |
probably damaging |
Het |
| Arrb2 |
A |
G |
11: 70,327,697 (GRCm39) |
I120M |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,049,437 (GRCm39) |
V535A |
probably benign |
Het |
| Cckbr |
G |
T |
7: 105,083,293 (GRCm39) |
W165C |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,564,648 (GRCm39) |
H1677Q |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,540,085 (GRCm39) |
F658S |
probably damaging |
Het |
| Gm5581 |
A |
T |
6: 131,145,259 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M3 |
A |
G |
17: 37,581,548 (GRCm39) |
E70G |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,137,068 (GRCm39) |
|
probably benign |
Het |
| Ighv1-24 |
C |
A |
12: 114,736,673 (GRCm39) |
V76F |
probably benign |
Het |
| Igkv1-110 |
A |
T |
6: 68,248,145 (GRCm39) |
R85W |
probably damaging |
Het |
| Kif9 |
A |
C |
9: 110,314,138 (GRCm39) |
R43S |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,710,368 (GRCm39) |
I472T |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,053,934 (GRCm39) |
A2199V |
possibly damaging |
Het |
| Or10a5 |
A |
T |
7: 106,636,318 (GRCm39) |
|
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,687 (GRCm39) |
K308E |
probably benign |
Het |
| Pcnt |
T |
A |
10: 76,256,080 (GRCm39) |
D720V |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,838,859 (GRCm39) |
E298G |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,434,905 (GRCm39) |
L323H |
probably damaging |
Het |
| Sall3 |
A |
G |
18: 81,014,484 (GRCm39) |
L1076P |
probably benign |
Het |
| Sprr2h |
A |
G |
3: 92,294,258 (GRCm39) |
N35S |
unknown |
Het |
| Susd1 |
T |
C |
4: 59,365,817 (GRCm39) |
D412G |
possibly damaging |
Het |
| Ugdh |
T |
A |
5: 65,574,248 (GRCm39) |
M432L |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,280,184 (GRCm39) |
V765I |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,964,692 (GRCm39) |
Q258R |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,055,354 (GRCm39) |
F1572Y |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,235,846 (GRCm39) |
T645A |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,991,843 (GRCm39) |
V659A |
probably damaging |
Het |
|
| Other mutations in Napsa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Napsa
|
APN |
7 |
44,230,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01380:Napsa
|
APN |
7 |
44,236,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01521:Napsa
|
APN |
7 |
44,236,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Napsa
|
APN |
7 |
44,231,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01935:Napsa
|
APN |
7 |
44,236,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02421:Napsa
|
APN |
7 |
44,234,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Napsa
|
APN |
7 |
44,236,184 (GRCm39) |
missense |
probably benign |
|
|
IGL03008:Napsa
|
APN |
7 |
44,235,220 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
PIT4131001:Napsa
|
UTSW |
7 |
44,230,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Napsa
|
UTSW |
7 |
44,234,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Napsa
|
UTSW |
7 |
44,231,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Napsa
|
UTSW |
7 |
44,236,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Napsa
|
UTSW |
7 |
44,231,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Napsa
|
UTSW |
7 |
44,231,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2366:Napsa
|
UTSW |
7 |
44,231,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Napsa
|
UTSW |
7 |
44,230,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5441:Napsa
|
UTSW |
7 |
44,230,817 (GRCm39) |
unclassified |
probably benign |
|
|
R5512:Napsa
|
UTSW |
7 |
44,222,040 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R5682:Napsa
|
UTSW |
7 |
44,234,768 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6290:Napsa
|
UTSW |
7 |
44,230,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7046:Napsa
|
UTSW |
7 |
44,234,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Napsa
|
UTSW |
7 |
44,235,159 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7677:Napsa
|
UTSW |
7 |
44,231,130 (GRCm39) |
nonsense |
probably null |
|
|
R7950:Napsa
|
UTSW |
7 |
44,234,758 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7983:Napsa
|
UTSW |
7 |
44,234,751 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9068:Napsa
|
UTSW |
7 |
44,235,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Napsa
|
UTSW |
7 |
44,231,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation