Incidental Mutation 'R6668:Prss16'
| ID |
527078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss16
|
| Ensembl Gene |
ENSMUSG00000006179 |
| Gene Name |
serine protease 16 (thymus) |
| Synonyms |
TSSP |
| MMRRC Submission |
044788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6668 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22186346-22193911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22190918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 238
(E238G)
|
| 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: E238G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000006341
Gene: ENSMUSG00000006179
AA Change: E238G
| 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: ENSMUST00000129665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130585
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223857
|
| Meta Mutation Damage Score |
0.1058 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
G |
T |
11: 116,486,868 (GRCm39) |
|
probably benign |
Het |
| Adam26b |
A |
T |
8: 43,973,727 (GRCm39) |
V425D |
possibly damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,579,972 (GRCm39) |
S2077P |
probably benign |
Het |
| Amacr |
A |
G |
15: 10,983,468 (GRCm39) |
T93A |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,930,728 (GRCm39) |
|
probably null |
Het |
| Bcas3 |
G |
A |
11: 85,692,677 (GRCm39) |
R354Q |
probably damaging |
Het |
| Chia1 |
C |
T |
3: 106,038,264 (GRCm39) |
L387F |
probably damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,327,805 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
G |
A |
9: 64,794,247 (GRCm39) |
G689S |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,688,039 (GRCm39) |
A18V |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,067,929 (GRCm39) |
V80E |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,704,617 (GRCm39) |
T430S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,577,618 (GRCm39) |
I213V |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,396,263 (GRCm39) |
R53* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,412,683 (GRCm39) |
N1524S |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,297,864 (GRCm39) |
S1104F |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,652,852 (GRCm39) |
V326A |
possibly damaging |
Het |
| Mlst8 |
A |
G |
17: 24,696,453 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
T |
9: 18,551,681 (GRCm39) |
S4871T |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,474,701 (GRCm39) |
|
probably benign |
Het |
| Ndufa3 |
A |
G |
7: 3,622,465 (GRCm39) |
Y41C |
probably damaging |
Het |
| Nfkbid |
T |
A |
7: 30,123,866 (GRCm39) |
L142Q |
probably benign |
Het |
| Or8b38 |
T |
A |
9: 37,973,066 (GRCm39) |
M150K |
possibly damaging |
Het |
| Peg10 |
T |
A |
6: 4,754,502 (GRCm39) |
D94E |
probably benign |
Het |
| Phactr3 |
A |
T |
2: 177,974,657 (GRCm39) |
I492F |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,492,396 (GRCm39) |
V1751A |
possibly damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,647 (GRCm39) |
V523A |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,547,498 (GRCm39) |
S223T |
probably benign |
Het |
| Ryk |
T |
A |
9: 102,746,475 (GRCm39) |
F137I |
possibly damaging |
Het |
| Sars2 |
G |
A |
7: 28,446,429 (GRCm39) |
E194K |
probably benign |
Het |
| Spata2l |
T |
C |
8: 123,960,167 (GRCm39) |
D374G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,592 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,192,652 (GRCm39) |
K1097E |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,017,408 (GRCm39) |
V690E |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,410,659 (GRCm39) |
N2703S |
probably damaging |
Het |
| Zfp273 |
C |
G |
13: 67,973,243 (GRCm39) |
L124V |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,031,091 (GRCm39) |
S950P |
probably damaging |
Het |
| Zfp994 |
A |
T |
17: 22,420,081 (GRCm39) |
H289Q |
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 |
|
|
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 |
|
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'- CTCTAGAAGCTTCCTCAGTTTTCAG -3'
(R):5'- TTGTACTAGGCTGACGCTCC -3'
Sequencing Primer
(F):5'- AGTTTTCAGTTCCAGCAGCTTG -3'
(R):5'- AGTCTTTGCCGCCGTCG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation