Incidental Mutation 'IGL01725:Pi16'
| ID |
105238 |
| 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 # |
IGL01725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29537770-29547876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29545294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 186
(S186T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114699]
[ENSMUST00000114701]
|
| AlphaFold |
Q9ET66 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114699
AA Change: S186T
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110347
Gene: ENSMUSG00000024011
AA Change: S186T
| 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: S186T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110349
Gene: ENSMUSG00000024011
AA Change: S186T
| 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: S179T
|
| SMART Domains |
Protein: ENSMUSP00000116183
Gene: ENSMUSG00000024011
AA Change: S179T
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,767 (GRCm39) |
I297F |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,738,241 (GRCm39) |
L1170I |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,781,206 (GRCm39) |
D2086G |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,667,897 (GRCm39) |
V368D |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,364,745 (GRCm39) |
T334A |
possibly damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,618,348 (GRCm39) |
R205G |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,819 (GRCm39) |
M515V |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,659,747 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,065,245 (GRCm39) |
T145A |
probably benign |
Het |
| Kntc1 |
G |
A |
5: 123,902,253 (GRCm39) |
V299I |
probably benign |
Het |
| Lin28a |
G |
A |
4: 133,735,241 (GRCm39) |
R52* |
probably null |
Het |
| Mast4 |
A |
T |
13: 102,887,020 (GRCm39) |
|
probably null |
Het |
| Nme4 |
G |
A |
17: 26,311,040 (GRCm39) |
A175V |
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,265,982 (GRCm39) |
M136L |
probably benign |
Het |
| Or51ah3 |
T |
A |
7: 103,210,282 (GRCm39) |
Y199* |
probably null |
Het |
| Pigc |
T |
A |
1: 161,798,914 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,005,218 (GRCm39) |
I222L |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,622 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
A |
C |
11: 51,614,405 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,857,660 (GRCm39) |
E1176G |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,645 (GRCm39) |
D255E |
probably benign |
Het |
| Slc16a9 |
T |
C |
10: 70,119,815 (GRCm39) |
M486T |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,726,324 (GRCm39) |
F155S |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,017,508 (GRCm39) |
V435A |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,693,155 (GRCm39) |
R324G |
probably damaging |
Het |
| Tas2r120 |
C |
T |
6: 132,634,052 (GRCm39) |
R45* |
probably null |
Het |
| Tfcp2l1 |
T |
C |
1: 118,596,366 (GRCm39) |
V367A |
possibly damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,605,619 (GRCm39) |
D177V |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,594 (GRCm39) |
S628P |
probably damaging |
Het |
|
| Other mutations in Pi16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02238:Pi16
|
APN |
17 |
29,545,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-01-21 |
Incidental Mutation