Incidental Mutation 'R7610:Tpsg1'
ID 588568
Institutional Source Beutler Lab
Gene Symbol Tpsg1
Ensembl Gene ENSMUSG00000033200
Gene Name tryptase gamma 1
Synonyms Prss31, TMT
MMRRC Submission 045679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7610 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25588247-25593416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25592184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 86 (G86V)
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: G86V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024999
Gene: ENSMUSG00000033200
AA Change: G86V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Tryp_SPc 4 154 1.79e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160920
AA Change: G13V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123828
Gene: ENSMUSG00000033200
AA Change: G13V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Tryp_SPc 5 111 2.35e-4 SMART
transmembrane domain 128 150 N/A INTRINSIC
Meta Mutation Damage Score 0.5691 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adtrp A G 13: 41,969,670 (GRCm39) F110L probably benign Het
Akap9 T G 5: 4,007,677 (GRCm39) D230E possibly damaging Het
Alg11 G A 8: 22,555,147 (GRCm39) R136H probably damaging Het
Ank3 A T 10: 69,822,252 (GRCm39) N307I Het
Ankrd17 A G 5: 90,380,222 (GRCm39) S2489P possibly damaging Het
Asf1b T G 8: 84,691,678 (GRCm39) I43S probably damaging Het
Cdc37l1 G T 19: 28,985,132 (GRCm39) G261W possibly damaging Het
Cpped1 C A 16: 11,712,742 (GRCm39) probably null Het
Ctsk T C 3: 95,408,155 (GRCm39) F4L probably benign Het
D130043K22Rik A T 13: 25,059,985 (GRCm39) T619S probably benign Het
Ddx25 T A 9: 35,465,893 (GRCm39) L109F possibly damaging Het
Dhrs9 C A 2: 69,223,291 (GRCm39) A13D unknown Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fam228a A G 12: 4,781,423 (GRCm39) probably null Het
Fancm T C 12: 65,152,454 (GRCm39) V970A probably damaging Het
Fcrl2 C A 3: 87,160,004 (GRCm39) V417F probably damaging Het
Fig4 C A 10: 41,129,709 (GRCm39) A504S probably damaging Het
Frmpd1 T C 4: 45,279,098 (GRCm39) S608P probably damaging Het
Ggta1 C T 2: 35,304,230 (GRCm39) probably null Het
Grb10 T C 11: 11,893,955 (GRCm39) K377R probably benign Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Klf14 A G 6: 30,935,005 (GRCm39) S210P probably damaging Het
Mcm3ap A G 10: 76,332,554 (GRCm39) probably null Het
Mgrn1 T C 16: 4,752,097 (GRCm39) *533Q probably null Het
Mtarc2 A G 1: 184,551,483 (GRCm39) Y318H probably benign Het
Notch1 A T 2: 26,368,191 (GRCm39) H598Q probably benign Het
Nt5el T A 13: 105,247,695 (GRCm39) N338K probably damaging Het
Ntng1 A G 3: 109,842,141 (GRCm39) S211P probably damaging Het
Or13a21 A T 7: 139,999,466 (GRCm39) C73* probably null Het
Or8i2 A G 2: 86,852,141 (GRCm39) V249A possibly damaging Het
Pgm5 A C 19: 24,812,120 (GRCm39) N137K probably damaging Het
Plcb2 T A 2: 118,550,240 (GRCm39) N172I possibly damaging Het
Pramel26 A T 4: 143,539,436 (GRCm39) M19K probably damaging Het
Rab11fip1 G A 8: 27,642,064 (GRCm39) H912Y probably benign Het
Rgl1 A G 1: 152,428,371 (GRCm39) V251A probably damaging Het
Rgs6 T C 12: 83,138,553 (GRCm39) Y296H probably damaging Het
Rhpn1 A G 15: 75,584,245 (GRCm39) T446A unknown Het
Rtn3 A G 19: 7,435,294 (GRCm39) S233P probably damaging Het
Rwdd1 A C 10: 33,877,134 (GRCm39) D203E probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Slfn5 T C 11: 82,852,310 (GRCm39) L812P probably damaging Het
Smc1b T C 15: 84,955,021 (GRCm39) D1077G possibly damaging Het
Snrnp48 A G 13: 38,393,937 (GRCm39) R81G probably damaging Het
Syt17 A T 7: 118,033,682 (GRCm39) probably null Het
Ttc3 T C 16: 94,228,697 (GRCm39) I757T probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Wdr54 C T 6: 83,129,839 (GRCm39) V305M possibly damaging Het
Xirp2 C T 2: 67,356,306 (GRCm39) T3689I possibly damaging Het
Zscan18 T C 7: 12,503,237 (GRCm39) K774R probably damaging Het
Other mutations in Tpsg1
AlleleSourceChrCoordTypePredicted EffectPPH 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
BB010:Tpsg1 UTSW 17 25,592,178 (GRCm39) missense probably damaging 0.99
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
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'- AACGTCCCAGCTGTTCTTGG -3'
(R):5'- TAGAAGTCAGCTGAGGCCTC -3'

Sequencing Primer
(F):5'- CCAGGTTCAGGCTTTATGTACGC -3'
(R):5'- AGCTGAGGCCTCTGGGAG -3'
Posted On 2019-10-24