Incidental Mutation 'R8775:Prss33'
| ID |
664678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss33
|
| Ensembl Gene |
ENSMUSG00000049620 |
| Gene Name |
serine protease 33 |
| Synonyms |
mT6, tryptase-6, Eos |
| MMRRC Submission |
068719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R8775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24052321-24055030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24052885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 263
(N263I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024926]
[ENSMUST00000059906]
[ENSMUST00000069579]
[ENSMUST00000115444]
[ENSMUST00000122936]
|
| AlphaFold |
Q80WM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024926
|
| SMART Domains |
Protein: ENSMUSP00000024926
Gene: ENSMUSG00000024114
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
52 |
289 |
2.48e-79 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059906
AA Change: N263I
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059491
Gene: ENSMUSG00000049620
AA Change: N263I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
33 |
271 |
9.03e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069579
|
| SMART Domains |
Protein: ENSMUSP00000066210
Gene: ENSMUSG00000055839
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
3 |
80 |
5.1e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115444
|
| SMART Domains |
Protein: ENSMUSP00000111104
Gene: ENSMUSG00000049620
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
15 |
253 |
4.5e-93 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122936
|
| SMART Domains |
Protein: ENSMUSP00000120141
Gene: ENSMUSG00000024114
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
12 |
249 |
2.48e-79 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
C |
6: 39,552,142 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
C |
7: 80,727,598 (GRCm39) |
M243L |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,499,093 (GRCm39) |
Y860N |
possibly damaging |
Het |
| Asprv1 |
T |
C |
6: 86,605,321 (GRCm39) |
S56P |
probably damaging |
Het |
| D130043K22Rik |
G |
T |
13: 25,040,982 (GRCm39) |
E135* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,511,711 (GRCm39) |
H293R |
possibly damaging |
Het |
| Dsg1a |
C |
T |
18: 20,473,564 (GRCm39) |
S879L |
probably damaging |
Het |
| Fbxo24 |
C |
T |
5: 137,611,213 (GRCm39) |
A526T |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,810,891 (GRCm39) |
D126E |
probably benign |
Het |
| Gpr137 |
A |
G |
19: 6,915,800 (GRCm39) |
F377L |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,009 (GRCm39) |
K44E |
probably damaging |
Het |
| Iigp1 |
A |
C |
18: 60,523,596 (GRCm39) |
Y238S |
probably damaging |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,782,149 (GRCm39) |
N258S |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,669,023 (GRCm39) |
I84T |
possibly damaging |
Het |
| Mansc1 |
C |
T |
6: 134,587,631 (GRCm39) |
R182H |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,148,006 (GRCm39) |
M1685T |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,800,145 (GRCm39) |
V1407E |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,375,410 (GRCm39) |
S297P |
probably benign |
Het |
| Nefm |
T |
C |
14: 68,362,108 (GRCm39) |
Y52C |
probably damaging |
Het |
| Ntng2 |
A |
T |
2: 29,117,976 (GRCm39) |
N157K |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,970,619 (GRCm39) |
V136A |
probably benign |
Het |
| Oser1 |
G |
A |
2: 163,249,004 (GRCm39) |
T66I |
probably benign |
Het |
| Palld |
A |
G |
8: 62,138,006 (GRCm39) |
L583P |
possibly damaging |
Het |
| Pex7 |
A |
G |
10: 19,760,522 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 101,004,204 (GRCm39) |
Y378H |
probably benign |
Het |
| Psg25 |
A |
C |
7: 18,255,153 (GRCm39) |
C454W |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,649,001 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
A |
T |
5: 34,719,751 (GRCm39) |
S587C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,664,006 (GRCm39) |
F493L |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,519,472 (GRCm39) |
T339S |
possibly damaging |
Het |
| Taok1 |
T |
C |
11: 77,470,632 (GRCm39) |
K58E |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,749,643 (GRCm39) |
D838G |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,164,914 (GRCm39) |
T65A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,638,466 (GRCm39) |
S205T |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r37 |
A |
T |
7: 9,218,991 (GRCm39) |
Y464* |
probably null |
Het |
| Wdsub1 |
A |
G |
2: 59,693,014 (GRCm39) |
M300T |
probably damaging |
Het |
| Xrcc5 |
C |
T |
1: 72,433,089 (GRCm39) |
T716I |
probably benign |
Het |
| Zfp619 |
G |
T |
7: 39,184,639 (GRCm39) |
C223F |
possibly damaging |
Het |
|
| Other mutations in Prss33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Scissorhands
|
UTSW |
17 |
24,053,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0506:Prss33
|
UTSW |
17 |
24,054,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1201:Prss33
|
UTSW |
17 |
24,054,084 (GRCm39) |
nonsense |
probably null |
|
|
R1478:Prss33
|
UTSW |
17 |
24,054,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1652:Prss33
|
UTSW |
17 |
24,054,116 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1652:Prss33
|
UTSW |
17 |
24,054,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1662:Prss33
|
UTSW |
17 |
24,053,785 (GRCm39) |
splice site |
probably null |
|
|
R1994:Prss33
|
UTSW |
17 |
24,053,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2151:Prss33
|
UTSW |
17 |
24,053,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Prss33
|
UTSW |
17 |
24,053,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Prss33
|
UTSW |
17 |
24,053,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5002:Prss33
|
UTSW |
17 |
24,054,332 (GRCm39) |
unclassified |
probably benign |
|
|
R6648:Prss33
|
UTSW |
17 |
24,053,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6662:Prss33
|
UTSW |
17 |
24,052,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6801:Prss33
|
UTSW |
17 |
24,053,813 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7726:Prss33
|
UTSW |
17 |
24,053,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8335:Prss33
|
UTSW |
17 |
24,053,569 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8413:Prss33
|
UTSW |
17 |
24,052,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8678:Prss33
|
UTSW |
17 |
24,053,723 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8775-TAIL:Prss33
|
UTSW |
17 |
24,052,885 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9151:Prss33
|
UTSW |
17 |
24,052,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9332:Prss33
|
UTSW |
17 |
24,053,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9624:Prss33
|
UTSW |
17 |
24,054,656 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAGTGATAGAAGATGGGCC -3'
(R):5'- CCCTAAAATCCAGGACTGAGGG -3'
Sequencing Primer
(F):5'- CTGAGTGATAGAAGATGGGCCTGAAG -3'
(R):5'- CTAAAATCCAGGACTGAGGGGGTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation