Incidental Mutation 'R8335:Prss33'
| ID |
644597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss33
|
| Ensembl Gene |
ENSMUSG00000049620 |
| Gene Name |
serine protease 33 |
| Synonyms |
mT6, tryptase-6, Eos |
| MMRRC Submission |
067863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R8335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24052321-24055030 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 24053569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024926]
[ENSMUST00000059906]
[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 |
probably null
Transcript: ENSMUST00000059906
|
| SMART Domains |
Protein: ENSMUSP00000059491
Gene: ENSMUSG00000049620
| 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: 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc47 |
C |
G |
11: 106,099,084 (GRCm39) |
E202D |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,099,085 (GRCm39) |
E202G |
probably damaging |
Het |
| Depdc1a |
C |
A |
3: 159,228,859 (GRCm39) |
P537Q |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,084,941 (GRCm39) |
M2816K |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,481,628 (GRCm39) |
|
probably null |
Het |
| Gm6356 |
A |
G |
14: 6,971,838 (GRCm38) |
M99T |
probably benign |
Het |
| Ighv1-67 |
A |
C |
12: 115,567,744 (GRCm39) |
V56G |
probably damaging |
Het |
| Il27ra |
A |
T |
8: 84,766,130 (GRCm39) |
L218Q |
probably damaging |
Het |
| Madd |
G |
A |
2: 91,000,584 (GRCm39) |
R494C |
probably damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,500,401 (GRCm39) |
R784W |
probably damaging |
Het |
| Mttp |
C |
T |
3: 137,808,973 (GRCm39) |
D697N |
possibly damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,543 (GRCm39) |
M427L |
probably benign |
Het |
| Or10ag57 |
A |
G |
2: 87,218,204 (GRCm39) |
I52V |
probably benign |
Het |
| Or13l2 |
T |
C |
3: 97,318,024 (GRCm39) |
N158D |
probably benign |
Het |
| Or4a67 |
G |
T |
2: 88,598,117 (GRCm39) |
P181T |
probably damaging |
Het |
| Or8k3b |
T |
A |
2: 86,520,512 (GRCm39) |
D269V |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,971,122 (GRCm39) |
H409R |
unknown |
Het |
| Pkp3 |
T |
C |
7: 140,667,669 (GRCm39) |
I490T |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,102,848 (GRCm39) |
V236L |
probably damaging |
Het |
| Pm20d2 |
T |
C |
4: 33,189,245 (GRCm39) |
S46G |
probably benign |
Het |
| Ptpn3 |
A |
T |
4: 57,235,286 (GRCm39) |
L358I |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,052,096 (GRCm39) |
T758A |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,012,801 (GRCm39) |
R1212C |
probably benign |
Het |
| Sox6 |
G |
A |
7: 115,300,949 (GRCm39) |
L173F |
probably damaging |
Het |
| Spata20 |
T |
C |
11: 94,373,369 (GRCm39) |
K501E |
probably benign |
Het |
| Stat2 |
G |
A |
10: 128,112,452 (GRCm39) |
V31I |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,183 (GRCm39) |
N378Y |
probably damaging |
Het |
| Tacr2 |
A |
T |
10: 62,100,946 (GRCm39) |
H352L |
probably benign |
Het |
| Tmem214 |
A |
G |
5: 31,029,466 (GRCm39) |
K230E |
possibly damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,352 (GRCm39) |
S238P |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,609 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,707,077 (GRCm39) |
I661M |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,977 (GRCm39) |
M238L |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,445 (GRCm39) |
S814P |
probably damaging |
Het |
| Vsig10 |
T |
C |
5: 117,486,435 (GRCm39) |
L448P |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,230,603 (GRCm39) |
|
probably null |
Het |
| Zfp616 |
A |
T |
11: 73,974,726 (GRCm39) |
K423* |
probably null |
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 |
|
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:Prss33
|
UTSW |
17 |
24,052,885 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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'- TCAGGAGACAGGACAGCTTG -3'
(R):5'- ACGAGCTCTTGGTTCCTGTG -3'
Sequencing Primer
(F):5'- ACAGCTTGAAGTGGGGCTTG -3'
(R):5'- GTGCTGCTGCCTCCTGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation