Incidental Mutation 'BB010:Tpsg1'
| ID |
642601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpsg1
|
| Ensembl Gene |
ENSMUSG00000033200 |
| Gene Name |
tryptase gamma 1 |
| Synonyms |
Prss31, TMT |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
BB010
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25588247-25593416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25592178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 84
(H84R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024999]
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
[ENSMUST00000160377]
[ENSMUST00000160485]
[ENSMUST00000160920]
[ENSMUST00000162021]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024999
AA Change: H84R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024999
Gene: ENSMUSG00000033200
AA Change: H84R
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
29 |
257 |
1.06e-87 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078496
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
138 |
418 |
8.4e-65 |
PFAM |
|
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
723 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
824 |
1011 |
4.7e-46 |
PFAM |
|
low complexity region
|
1130 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1259 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1341 |
1565 |
4.5e-56 |
PFAM |
|
low complexity region
|
1576 |
1602 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1656 |
1864 |
7.8e-48 |
PFAM |
|
Pfam:PKD_channel
|
1714 |
1871 |
1.2e-10 |
PFAM |
|
Blast:Tryp_SPc
|
1915 |
2077 |
1e-38 |
BLAST |
|
low complexity region
|
2086 |
2097 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159048
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
32 |
312 |
8e-65 |
PFAM |
|
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
617 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
718 |
905 |
4.6e-46 |
PFAM |
|
low complexity region
|
1024 |
1041 |
N/A |
INTRINSIC |
|
low complexity region
|
1142 |
1153 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1235 |
1459 |
4.3e-56 |
PFAM |
|
low complexity region
|
1470 |
1496 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
1524 |
1608 |
1.6e-6 |
PFAM |
|
Pfam:Ion_trans
|
1550 |
1758 |
7.6e-48 |
PFAM |
|
Pfam:PKD_channel
|
1609 |
1765 |
1.2e-10 |
PFAM |
|
Blast:Tryp_SPc
|
1809 |
1854 |
9e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159610
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
99 |
430 |
7e-79 |
PFAM |
|
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
723 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
789 |
1023 |
2.4e-58 |
PFAM |
|
low complexity region
|
1130 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1259 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1304 |
1577 |
4.5e-65 |
PFAM |
|
Pfam:Ion_trans
|
1621 |
1876 |
4.2e-59 |
PFAM |
|
Pfam:PKD_channel
|
1629 |
1715 |
9.3e-7 |
PFAM |
|
Pfam:PKD_channel
|
1713 |
1871 |
2.2e-11 |
PFAM |
|
Blast:Tryp_SPc
|
1915 |
2077 |
1e-38 |
BLAST |
|
low complexity region
|
2086 |
2097 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160377
|
| SMART Domains |
Protein: ENSMUSP00000124008
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160485
|
| SMART Domains |
Protein: ENSMUSP00000124721
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160920
AA Change: H11R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123828
Gene: ENSMUSG00000033200
AA Change: H11R
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
184 |
7.18e-44 |
SMART |
|
transmembrane domain
|
201 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161035
|
| SMART Domains |
Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
1 |
73 |
2.1e-9 |
PFAM |
|
Pfam:Ion_trans
|
72 |
170 |
2.8e-17 |
PFAM |
|
Blast:Tryp_SPc
|
209 |
291 |
3e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161658
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162021
|
| SMART Domains |
Protein: ENSMUSP00000125180
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
5 |
111 |
2.35e-4 |
SMART |
|
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2177 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
G |
11: 50,833,227 (GRCm39) |
V125A |
unknown |
Het |
| Adam34 |
T |
A |
8: 44,103,911 (GRCm39) |
H578L |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,400,811 (GRCm39) |
M678K |
probably benign |
Het |
| Atosb |
A |
T |
4: 43,035,919 (GRCm39) |
C271S |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,836,986 (GRCm39) |
L1150P |
probably damaging |
Het |
| Camta1 |
C |
T |
4: 151,168,214 (GRCm39) |
E279K |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,275,029 (GRCm39) |
K400* |
probably null |
Het |
| Cpsf4 |
T |
A |
5: 145,104,168 (GRCm39) |
M1K |
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,488,072 (GRCm39) |
Q992L |
probably benign |
Het |
| Dnajc7 |
T |
C |
11: 100,487,038 (GRCm39) |
Y145C |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,810,279 (GRCm39) |
D892E |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,623,539 (GRCm39) |
K23E |
possibly damaging |
Het |
| Filip1 |
T |
G |
9: 79,727,329 (GRCm39) |
K430T |
possibly damaging |
Het |
| Gm5089 |
T |
C |
14: 122,673,403 (GRCm39) |
D106G |
unknown |
Het |
| Hip1 |
A |
T |
5: 135,489,310 (GRCm39) |
N45K |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,003,581 (GRCm39) |
S60P |
probably damaging |
Het |
| Ighv1-53 |
A |
T |
12: 115,122,029 (GRCm39) |
C115* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,303,444 (GRCm39) |
T353A |
probably benign |
Het |
| Mast3 |
A |
T |
8: 71,239,279 (GRCm39) |
V433E |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,909,071 (GRCm39) |
M660K |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,439,379 (GRCm39) |
Y380C |
probably damaging |
Het |
| Or10g9b |
T |
C |
9: 39,918,431 (GRCm39) |
|
probably benign |
Het |
| Or5b111 |
T |
A |
19: 13,291,569 (GRCm39) |
M27L |
probably benign |
Het |
| Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,288,859 (GRCm39) |
W473R |
probably damaging |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,891,565 (GRCm39) |
L85P |
probably damaging |
Het |
| Sprr3 |
T |
C |
3: 92,364,515 (GRCm39) |
I110V |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,943,572 (GRCm39) |
E326G |
probably benign |
Het |
| Tapbpl |
T |
G |
6: 125,207,233 (GRCm39) |
Q152P |
probably damaging |
Het |
| Tectb |
C |
T |
19: 55,183,105 (GRCm39) |
L319F |
possibly damaging |
Het |
| Tpp2 |
G |
A |
1: 44,000,121 (GRCm39) |
G413D |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,285,686 (GRCm39) |
N2437S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,897,885 (GRCm39) |
Q1152R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,467,224 (GRCm39) |
T92A |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,944,788 (GRCm39) |
V35A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zfp169 |
A |
G |
13: 48,643,957 (GRCm39) |
V390A |
unknown |
Het |
|
| Other mutations in Tpsg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Tpsg1
|
APN |
17 |
25,592,196 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01445:Tpsg1
|
APN |
17 |
25,591,472 (GRCm39) |
nonsense |
probably null |
|
|
IGL01515:Tpsg1
|
APN |
17 |
25,592,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Tpsg1
|
UTSW |
17 |
25,592,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0095:Tpsg1
|
UTSW |
17 |
25,591,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1155:Tpsg1
|
UTSW |
17 |
25,592,768 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1911:Tpsg1
|
UTSW |
17 |
25,592,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2103:Tpsg1
|
UTSW |
17 |
25,592,267 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2280:Tpsg1
|
UTSW |
17 |
25,593,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4843:Tpsg1
|
UTSW |
17 |
25,589,591 (GRCm39) |
start gained |
probably benign |
|
|
R6142:Tpsg1
|
UTSW |
17 |
25,591,460 (GRCm39) |
missense |
probably benign |
|
|
R6381:Tpsg1
|
UTSW |
17 |
25,591,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Tpsg1
|
UTSW |
17 |
25,588,271 (GRCm39) |
unclassified |
probably benign |
|
|
R7365:Tpsg1
|
UTSW |
17 |
25,592,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Tpsg1
|
UTSW |
17 |
25,592,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7603:Tpsg1
|
UTSW |
17 |
25,592,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Tpsg1
|
UTSW |
17 |
25,592,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7607:Tpsg1
|
UTSW |
17 |
25,592,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Tpsg1
|
UTSW |
17 |
25,592,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7610:Tpsg1
|
UTSW |
17 |
25,592,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7611:Tpsg1
|
UTSW |
17 |
25,592,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Tpsg1
|
UTSW |
17 |
25,592,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8174:Tpsg1
|
UTSW |
17 |
25,591,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Tpsg1
|
UTSW |
17 |
25,593,230 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8685:Tpsg1
|
UTSW |
17 |
25,592,241 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9745:Tpsg1
|
UTSW |
17 |
25,591,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGTCCCAGCTGTTCTTG -3'
(R):5'- ATCCCAGGGTAGAAGTCAGCTG -3'
Sequencing Primer
(F):5'- CCAGGTTCAGGCTTTATGTACGC -3'
(R):5'- TAGAAGTCAGCTGAGGCCTCTG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation