Incidental Mutation 'IGL02383:Prss16'
| ID |
291448 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prss16
|
| Ensembl Gene |
ENSMUSG00000006179 |
| Gene Name |
serine protease 16 (thymus) |
| Synonyms |
TSSP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
22186346-22193911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22193697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 33
(I33V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006341]
[ENSMUST00000150547]
|
| AlphaFold |
Q9QXE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006341
AA Change: I33V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000006341
Gene: ENSMUSG00000006179
AA Change: I33V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
53 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S28
|
63 |
493 |
1.9e-157 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133204
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147811
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223857
|
| 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 serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable with no gross abnormalities and normal T cell development and activation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
T |
C |
6: 133,269,205 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
C |
A |
11: 80,051,015 (GRCm39) |
A115D |
probably damaging |
Het |
| Ankrd1 |
A |
G |
19: 36,097,165 (GRCm39) |
V6A |
probably benign |
Het |
| Apobr |
T |
A |
7: 126,185,779 (GRCm39) |
V430E |
probably benign |
Het |
| Arhgap28 |
A |
G |
17: 68,203,084 (GRCm39) |
V123A |
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,790,903 (GRCm39) |
V167A |
probably damaging |
Het |
| B3galnt2 |
A |
T |
13: 14,171,618 (GRCm39) |
*505C |
probably null |
Het |
| Bcat2 |
T |
A |
7: 45,237,431 (GRCm39) |
L305Q |
probably damaging |
Het |
| Coa8 |
T |
A |
12: 111,690,847 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,224,339 (GRCm39) |
S174P |
unknown |
Het |
| Ddx41 |
A |
T |
13: 55,680,170 (GRCm39) |
D418E |
probably benign |
Het |
| Defa40 |
A |
G |
8: 21,740,377 (GRCm39) |
D61G |
probably damaging |
Het |
| Exoc6 |
T |
C |
19: 37,566,922 (GRCm39) |
F240L |
probably benign |
Het |
| Fbln7 |
G |
A |
2: 128,737,477 (GRCm39) |
V431I |
probably benign |
Het |
| Gfral |
T |
A |
9: 76,104,374 (GRCm39) |
N213Y |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,706,562 (GRCm39) |
D22G |
probably benign |
Het |
| H2-M1 |
G |
A |
17: 36,981,141 (GRCm39) |
T298I |
unknown |
Het |
| Haus3 |
A |
T |
5: 34,323,580 (GRCm39) |
Y343* |
probably null |
Het |
| Hid1 |
T |
C |
11: 115,243,446 (GRCm39) |
E534G |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,170,676 (GRCm39) |
V196A |
probably benign |
Het |
| Itm2b |
C |
A |
14: 73,600,536 (GRCm39) |
E255* |
probably null |
Het |
| Kidins220 |
A |
T |
12: 25,047,332 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,762 (GRCm39) |
F297Y |
possibly damaging |
Het |
| Krt9 |
T |
C |
11: 100,082,041 (GRCm39) |
E253G |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,973,932 (GRCm39) |
|
probably null |
Het |
| Med29 |
C |
A |
7: 28,086,448 (GRCm39) |
R120L |
possibly damaging |
Het |
| Napa |
C |
T |
7: 15,846,503 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,961,624 (GRCm39) |
Y351N |
probably benign |
Het |
| Nphs1 |
C |
T |
7: 30,181,060 (GRCm39) |
|
probably benign |
Het |
| Or5b94 |
A |
G |
19: 12,651,899 (GRCm39) |
D110G |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,199,227 (GRCm39) |
Y193C |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,102,002 (GRCm39) |
R78H |
probably damaging |
Het |
| Rrp9 |
T |
A |
9: 106,362,471 (GRCm39) |
I452N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,737,607 (GRCm39) |
|
probably benign |
Het |
| Sec23a |
A |
G |
12: 59,048,813 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc17a9 |
A |
C |
2: 180,377,674 (GRCm39) |
D190A |
probably benign |
Het |
| Slc44a4 |
G |
A |
17: 35,146,686 (GRCm39) |
V422I |
probably benign |
Het |
| Smc5 |
C |
T |
19: 23,191,996 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,730,351 (GRCm39) |
S611F |
probably benign |
Het |
| Tmem38b |
G |
A |
4: 53,854,345 (GRCm39) |
M192I |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,989,410 (GRCm39) |
C34* |
probably null |
Het |
| Usp46 |
T |
A |
5: 74,190,014 (GRCm39) |
M6L |
probably benign |
Het |
| Uspl1 |
G |
A |
5: 149,150,212 (GRCm39) |
V471M |
probably damaging |
Het |
| Vmn1r35 |
T |
A |
6: 66,655,875 (GRCm39) |
Q265L |
probably damaging |
Het |
| Vmn1r35 |
G |
T |
6: 66,655,876 (GRCm39) |
Q265K |
probably damaging |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,461 (GRCm39) |
I69V |
possibly damaging |
Het |
| Vps33b |
A |
G |
7: 79,935,082 (GRCm39) |
|
probably null |
Het |
| Xntrpc |
A |
C |
7: 101,742,802 (GRCm39) |
D604A |
probably damaging |
Het |
| Yeats4 |
T |
A |
10: 117,051,716 (GRCm39) |
R180S |
probably benign |
Het |
|
| Other mutations in Prss16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02025:Prss16
|
APN |
13 |
22,187,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02272:Prss16
|
APN |
13 |
22,187,205 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02892:Prss16
|
APN |
13 |
22,187,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03325:Prss16
|
APN |
13 |
22,187,417 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
BB001:Prss16
|
UTSW |
13 |
22,192,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB011:Prss16
|
UTSW |
13 |
22,192,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0645:Prss16
|
UTSW |
13 |
22,193,546 (GRCm39) |
unclassified |
probably benign |
|
|
R0970:Prss16
|
UTSW |
13 |
22,189,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Prss16
|
UTSW |
13 |
22,191,138 (GRCm39) |
unclassified |
probably benign |
|
|
R1292:Prss16
|
UTSW |
13 |
22,193,691 (GRCm39) |
nonsense |
probably null |
|
|
R1371:Prss16
|
UTSW |
13 |
22,192,856 (GRCm39) |
unclassified |
probably benign |
|
|
R1525:Prss16
|
UTSW |
13 |
22,193,613 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1624:Prss16
|
UTSW |
13 |
22,187,483 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2233:Prss16
|
UTSW |
13 |
22,193,579 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5147:Prss16
|
UTSW |
13 |
22,190,264 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5670:Prss16
|
UTSW |
13 |
22,187,221 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6440:Prss16
|
UTSW |
13 |
22,187,330 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6668:Prss16
|
UTSW |
13 |
22,190,918 (GRCm39) |
missense |
probably null |
0.01 |
|
R6791:Prss16
|
UTSW |
13 |
22,190,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7278:Prss16
|
UTSW |
13 |
22,187,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Prss16
|
UTSW |
13 |
22,192,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8865:Prss16
|
UTSW |
13 |
22,187,175 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8980:Prss16
|
UTSW |
13 |
22,187,212 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9139:Prss16
|
UTSW |
13 |
22,192,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Prss16
|
UTSW |
13 |
22,192,754 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9276:Prss16
|
UTSW |
13 |
22,190,175 (GRCm39) |
start gained |
probably benign |
|
|
R9318:Prss16
|
UTSW |
13 |
22,191,108 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9748:Prss16
|
UTSW |
13 |
22,192,504 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Prss16
|
UTSW |
13 |
22,190,570 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Prss16
|
UTSW |
13 |
22,190,224 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation