Incidental Mutation 'IGL02238:Pi16'
ID |
285962 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pi16
|
Ensembl Gene |
ENSMUSG00000024011 |
Gene Name |
peptidase inhibitor 16 |
Synonyms |
1200009H11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL02238
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
29537770-29547876 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 29545269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 177
(K177N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114699]
[ENSMUST00000114701]
|
AlphaFold |
Q9ET66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114699
AA Change: K177N
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000110347 Gene: ENSMUSG00000024011 AA Change: K177N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
SCP
|
33 |
175 |
7.72e-52 |
SMART |
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114701
AA Change: K177N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110349 Gene: ENSMUSG00000024011 AA Change: K177N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
SCP
|
33 |
175 |
7.72e-52 |
SMART |
low complexity region
|
363 |
410 |
N/A |
INTRINSIC |
low complexity region
|
484 |
494 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135754
|
Predicted Effect |
unknown
Transcript: ENSMUST00000155348
AA Change: K170N
|
SMART Domains |
Protein: ENSMUSP00000116183 Gene: ENSMUSG00000024011 AA Change: K170N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
SCP
|
27 |
169 |
7.72e-52 |
SMART |
low complexity region
|
216 |
226 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibited numerous immunological abnormalities during tissue-specific FACS analyses including an increased percentage of CD25+ cells in lymph node and B cell compartment differences in bone marrow spleen and lymph node. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
A |
7: 119,995,829 (GRCm39) |
I1322N |
probably benign |
Het |
Adamts1 |
A |
T |
16: 85,592,713 (GRCm39) |
M565K |
probably benign |
Het |
Akr1b7 |
T |
A |
6: 34,392,333 (GRCm39) |
Y49N |
probably damaging |
Het |
Cacna2d2 |
T |
A |
9: 107,390,757 (GRCm39) |
V363E |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh10 |
C |
T |
15: 19,013,605 (GRCm39) |
T735I |
probably damaging |
Het |
Cds1 |
T |
A |
5: 101,962,302 (GRCm39) |
C306S |
possibly damaging |
Het |
Cfap251 |
T |
C |
5: 123,440,486 (GRCm39) |
Y1091H |
probably damaging |
Het |
Clasp2 |
T |
C |
9: 113,709,088 (GRCm39) |
C644R |
probably damaging |
Het |
Coil |
T |
C |
11: 88,872,580 (GRCm39) |
S314P |
probably benign |
Het |
D630045J12Rik |
T |
A |
6: 38,173,329 (GRCm39) |
M280L |
probably benign |
Het |
Dmxl2 |
C |
T |
9: 54,352,717 (GRCm39) |
V795M |
probably damaging |
Het |
Dock10 |
A |
G |
1: 80,511,510 (GRCm39) |
V1533A |
probably damaging |
Het |
Fbxo40 |
T |
C |
16: 36,789,536 (GRCm39) |
N525D |
possibly damaging |
Het |
Fezf2 |
T |
C |
14: 12,344,494 (GRCm38) |
E231G |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,412,470 (GRCm39) |
V870A |
possibly damaging |
Het |
Ifi44 |
A |
G |
3: 151,438,019 (GRCm39) |
*423Q |
probably null |
Het |
Invs |
T |
C |
4: 48,390,029 (GRCm39) |
V173A |
probably damaging |
Het |
Krt88 |
A |
G |
15: 101,350,486 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
A |
T |
7: 71,739,953 (GRCm39) |
Y812* |
probably null |
Het |
Neto2 |
T |
C |
8: 86,396,292 (GRCm39) |
I118V |
probably damaging |
Het |
Nutm2 |
T |
G |
13: 50,625,075 (GRCm39) |
M264R |
probably damaging |
Het |
Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
Or8u8 |
T |
C |
2: 86,011,939 (GRCm39) |
|
probably null |
Het |
Pcnx1 |
G |
A |
12: 81,964,688 (GRCm39) |
R285Q |
probably damaging |
Het |
Pigg |
C |
T |
5: 108,466,794 (GRCm39) |
S225F |
possibly damaging |
Het |
Prrc2b |
T |
A |
2: 32,103,429 (GRCm39) |
V969E |
probably damaging |
Het |
Rab4b |
A |
C |
7: 26,872,154 (GRCm39) |
Y189D |
probably benign |
Het |
Ran |
A |
G |
5: 129,099,246 (GRCm39) |
N143D |
possibly damaging |
Het |
Rfc4 |
A |
T |
16: 22,933,219 (GRCm39) |
F286L |
probably damaging |
Het |
Sel1l2 |
T |
C |
2: 140,089,859 (GRCm39) |
Y418C |
probably damaging |
Het |
Slc13a1 |
T |
C |
6: 24,103,482 (GRCm39) |
I354V |
probably benign |
Het |
Slc7a2 |
A |
T |
8: 41,361,193 (GRCm39) |
T386S |
probably benign |
Het |
Tm2d2 |
G |
T |
8: 25,512,787 (GRCm39) |
V212F |
probably benign |
Het |
Tmem247 |
A |
T |
17: 87,225,721 (GRCm39) |
N54Y |
probably damaging |
Het |
Txnrd3 |
T |
A |
6: 89,633,117 (GRCm39) |
Y206N |
probably benign |
Het |
Uba5 |
T |
C |
9: 103,931,259 (GRCm39) |
|
probably benign |
Het |
Vmn2r54 |
A |
G |
7: 12,369,910 (GRCm39) |
L51P |
probably damaging |
Het |
Zfp735 |
A |
G |
11: 73,601,319 (GRCm39) |
K88E |
probably benign |
Het |
|
Other mutations in Pi16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01725:Pi16
|
APN |
17 |
29,545,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Pi16
|
UTSW |
17 |
29,545,917 (GRCm39) |
missense |
probably benign |
0.02 |
R0507:Pi16
|
UTSW |
17 |
29,546,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0570:Pi16
|
UTSW |
17 |
29,538,189 (GRCm39) |
start codon destroyed |
possibly damaging |
0.54 |
R1834:Pi16
|
UTSW |
17 |
29,546,419 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1845:Pi16
|
UTSW |
17 |
29,538,361 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5670:Pi16
|
UTSW |
17 |
29,545,870 (GRCm39) |
missense |
probably damaging |
0.99 |
R6223:Pi16
|
UTSW |
17 |
29,546,413 (GRCm39) |
nonsense |
probably null |
|
R7097:Pi16
|
UTSW |
17 |
29,545,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R7122:Pi16
|
UTSW |
17 |
29,545,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R7200:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7215:Pi16
|
UTSW |
17 |
29,538,072 (GRCm39) |
unclassified |
probably benign |
|
R7219:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7220:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7278:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7318:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7822:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8254:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8265:Pi16
|
UTSW |
17 |
29,545,947 (GRCm39) |
missense |
probably benign |
0.01 |
R8386:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9368:Pi16
|
UTSW |
17 |
29,546,852 (GRCm39) |
missense |
probably benign |
0.15 |
R9420:Pi16
|
UTSW |
17 |
29,544,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R9649:Pi16
|
UTSW |
17 |
29,538,363 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2015-04-16 |