Incidental Mutation 'R1201:Prss33'
| ID |
101429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss33
|
| Ensembl Gene |
ENSMUSG00000049620 |
| Gene Name |
serine protease 33 |
| Synonyms |
mT6, tryptase-6, Eos |
| MMRRC Submission |
039271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24052321-24055030 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 24054084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 74
(S74*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111104
(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 benign
Transcript: ENSMUST00000059906
AA Change: Q41K
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000059491
Gene: ENSMUSG00000049620
AA Change: Q41K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
33 |
271 |
9.03e-91 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115444
AA Change: S74*
|
| SMART Domains |
Protein: ENSMUSP00000111104
Gene: ENSMUSG00000049620
AA Change: S74*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164140
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,546,626 (GRCm39) |
T103A |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,384,761 (GRCm39) |
I674T |
probably damaging |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Actc1 |
A |
G |
2: 113,879,994 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arhgap40 |
A |
C |
2: 158,376,689 (GRCm39) |
D275A |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,524 (GRCm39) |
S1490G |
probably benign |
Het |
| Car11 |
A |
G |
7: 45,352,904 (GRCm39) |
D221G |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,095 (GRCm39) |
H596Q |
possibly damaging |
Het |
| Ccm2 |
T |
C |
11: 6,543,682 (GRCm39) |
V231A |
probably benign |
Het |
| Crh |
A |
G |
3: 19,748,090 (GRCm39) |
I184T |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,091,393 (GRCm39) |
S424P |
probably damaging |
Het |
| Dbf4 |
A |
C |
5: 8,447,498 (GRCm39) |
L571V |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,542 (GRCm39) |
K66E |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,296,487 (GRCm39) |
V3672A |
probably benign |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,883 (GRCm39) |
N230D |
probably benign |
Het |
| Nlrp4b |
G |
T |
7: 10,449,363 (GRCm39) |
R522L |
possibly damaging |
Het |
| Ntn1 |
T |
C |
11: 68,104,052 (GRCm39) |
D532G |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,848,059 (GRCm39) |
V215D |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,917,937 (GRCm39) |
M36K |
probably damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,813 (GRCm39) |
W260R |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,226 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b2b |
T |
G |
1: 92,418,875 (GRCm39) |
I201L |
probably benign |
Het |
| Or7a39 |
A |
T |
10: 78,715,311 (GRCm39) |
M102L |
probably benign |
Het |
| Otulinl |
G |
A |
15: 27,658,259 (GRCm39) |
Q84* |
probably null |
Het |
| Pidd1 |
A |
G |
7: 141,020,187 (GRCm39) |
F580L |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,108,305 (GRCm39) |
D1116G |
probably damaging |
Het |
| Rab34 |
T |
A |
11: 78,081,222 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
C |
15: 39,479,720 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,413,342 (GRCm39) |
S1152P |
unknown |
Het |
| Slc6a17 |
T |
A |
3: 107,400,388 (GRCm39) |
Q206L |
possibly damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,037 (GRCm39) |
W310* |
probably null |
Het |
| Tnrc6c |
T |
G |
11: 117,612,500 (GRCm39) |
N379K |
probably damaging |
Het |
| Vmn1r76 |
A |
C |
7: 11,664,252 (GRCm39) |
F286V |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,225,413 (GRCm39) |
D463G |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp263 |
T |
A |
16: 3,567,294 (GRCm39) |
H536Q |
probably damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,736 (GRCm39) |
F602Y |
probably 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 |
|
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: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'- GTCTTTCCTGGAGCTGGAACAGTG -3'
(R):5'- AGCTTGGCATGAGGTCAGTGTAAC -3'
Sequencing Primer
(F):5'- AGTGAGCAAGCACTGACC -3'
(R):5'- GTCAGTGTAACCAATATGTTCCACC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation