Incidental Mutation 'R1292:Prss16'
ID |
150824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss16
|
Ensembl Gene |
ENSMUSG00000006179 |
Gene Name |
serine protease 16 (thymus) |
Synonyms |
TSSP |
MMRRC Submission |
039358-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1292 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
22186346-22193911 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 22193691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 35
(K35*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006341]
[ENSMUST00000150547]
|
AlphaFold |
Q9QXE5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006341
AA Change: K35*
|
SMART Domains |
Protein: ENSMUSP00000006341 Gene: ENSMUSG00000006179 AA Change: K35*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
97% (31/32) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
T |
A |
9: 53,336,919 (GRCm39) |
D74E |
probably benign |
Het |
Abcb1a |
A |
T |
5: 8,763,343 (GRCm39) |
T624S |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,704,092 (GRCm39) |
Y342C |
probably damaging |
Het |
Clcnka |
A |
G |
4: 141,122,903 (GRCm39) |
|
probably benign |
Het |
Cma2 |
C |
T |
14: 56,211,199 (GRCm39) |
R164C |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,762,026 (GRCm39) |
D496G |
probably damaging |
Het |
Ctbp2 |
T |
A |
7: 132,616,918 (GRCm39) |
R6W |
probably damaging |
Het |
Cyp3a11 |
T |
C |
5: 145,802,804 (GRCm39) |
T230A |
probably benign |
Het |
Defb40 |
A |
C |
8: 19,028,080 (GRCm39) |
I18S |
probably benign |
Het |
Fcgbpl1 |
A |
C |
7: 27,842,219 (GRCm39) |
|
probably benign |
Het |
Gm10036 |
T |
G |
18: 15,966,368 (GRCm39) |
I173S |
possibly damaging |
Het |
Herc2 |
A |
T |
7: 55,846,951 (GRCm39) |
I3634L |
probably benign |
Het |
Igfbp1 |
A |
G |
11: 7,150,863 (GRCm39) |
N218S |
probably damaging |
Het |
Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
Kmt2a |
A |
T |
9: 44,725,991 (GRCm39) |
|
probably benign |
Het |
Ly9 |
T |
C |
1: 171,416,671 (GRCm39) |
|
probably null |
Het |
Mmut |
C |
A |
17: 41,252,298 (GRCm39) |
A280E |
probably damaging |
Het |
Or5k16 |
C |
T |
16: 58,736,134 (GRCm39) |
R290K |
probably damaging |
Het |
Or6k6 |
A |
G |
1: 173,945,420 (GRCm39) |
F54S |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,885 (GRCm39) |
V421A |
probably benign |
Het |
Pik3ca |
T |
A |
3: 32,508,569 (GRCm39) |
L779Q |
probably damaging |
Het |
Plxnd1 |
T |
C |
6: 115,939,644 (GRCm39) |
|
probably benign |
Het |
Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
Slc2a2 |
C |
T |
3: 28,771,637 (GRCm39) |
T189I |
probably damaging |
Het |
Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
A |
G |
6: 82,531,856 (GRCm39) |
I251V |
probably damaging |
Het |
Tln1 |
A |
G |
4: 43,534,578 (GRCm39) |
|
probably null |
Het |
Vdac3-ps1 |
T |
C |
13: 18,205,880 (GRCm39) |
|
noncoding transcript |
Het |
Zfp458 |
A |
T |
13: 67,404,754 (GRCm39) |
C562S |
probably damaging |
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 |
IGL02383:Prss16
|
APN |
13 |
22,193,697 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGGGTTACAGACTGACAAGAC -3'
(R):5'- GTTACTACTGACGCTGAACCTGCC -3'
Sequencing Primer
(F):5'- TTACAGACTGACAAGACAGTGC -3'
(R):5'- AGAGTGCCTGGAACACTTC -3'
|
Posted On |
2014-01-29 |