Incidental Mutation 'IGL03328:Tpsab1'
ID416766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpsab1
Ensembl Gene ENSMUSG00000024173
Gene Nametryptase alpha/beta 1
SynonymsMMCP-7, Mcp-7, Mcpt7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03328
Quality Score
Status
Chromosome17
Chromosomal Location25343245-25345562 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25345128 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 87 (D87V)
Ref Sequence ENSEMBL: ENSMUSP00000120741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000153118]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146856
Predicted Effect probably benign
Transcript: ENSMUST00000153118
AA Change: D87V

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120741
Gene: ENSMUSG00000024173
AA Change: D87V

DomainStartEndE-ValueType
signal peptide 1 55 N/A INTRINSIC
Tryp_SPc 65 302 3.63e-95 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: A spontaneous splice-site point mutation in this gene results in constitutive loss of its expression in synovial mast cells of C57BL/6 mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A T 2: 23,212,805 Y185F possibly damaging Het
Acaca A T 11: 84,320,529 M1556L probably benign Het
Aicda T G 6: 122,562,437 D187E probably benign Het
Arfgap3 A C 15: 83,343,081 F43L probably damaging Het
AW551984 T C 9: 39,597,116 E368G probably damaging Het
Bbs4 T C 9: 59,344,118 E33G probably damaging Het
Bcas1 T A 2: 170,366,396 K437* probably null Het
Brwd1 A T 16: 96,002,725 W2082R probably damaging Het
Card6 A T 15: 5,105,445 probably benign Het
Cd200r4 A G 16: 44,833,519 I226M possibly damaging Het
Cep57l1 T C 10: 41,743,152 E73G probably damaging Het
Chaf1a T G 17: 56,063,374 F613C probably damaging Het
Clybl G T 14: 122,401,994 K323N probably damaging Het
Coa7 A G 4: 108,338,282 D136G probably damaging Het
Col5a2 C A 1: 45,376,146 V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,847 probably benign Het
Cyp4f17 T G 17: 32,520,626 M174R probably damaging Het
Dnah10 A T 5: 124,754,290 D794V probably benign Het
Eapp A G 12: 54,692,093 S87P probably benign Het
Efnb3 A G 11: 69,557,205 I137T probably damaging Het
Eif4e T A 3: 138,553,727 probably benign Het
Fam83b T A 9: 76,493,042 I260L probably benign Het
Fras1 A G 5: 96,781,760 T4008A probably damaging Het
Fut8 A T 12: 77,365,229 R118W probably damaging Het
Glt1d1 A C 5: 127,657,119 D119A probably benign Het
Gm3727 T A 14: 7,261,685 *206C probably null Het
Gmip G A 8: 69,811,611 V174M possibly damaging Het
Gtf2ird1 A G 5: 134,389,129 probably null Het
Haao C T 17: 83,846,649 C23Y probably damaging Het
Hip1 A T 5: 135,424,874 V400E probably damaging Het
Keg1 A G 19: 12,719,097 N215S probably damaging Het
Lss T G 10: 76,540,951 I334S probably damaging Het
Lyn A C 4: 3,745,327 E77D probably benign Het
Myo3a A G 2: 22,578,198 E1426G probably benign Het
Ncapg2 A G 12: 116,440,057 E863G possibly damaging Het
Ncl T C 1: 86,352,597 Y496C probably damaging Het
Nefm A T 14: 68,121,290 S432T probably benign Het
Nipsnap1 A G 11: 4,884,096 Y95C possibly damaging Het
Npc1l1 C A 11: 6,218,643 E913* probably null Het
Nup205 T C 6: 35,232,414 L1552P probably damaging Het
Olfr1217 G T 2: 89,023,855 Y49* probably null Het
Olfr1356 C T 10: 78,847,367 E183K probably benign Het
Olfr325 A G 11: 58,581,713 N290D probably damaging Het
Olfr652 T A 7: 104,564,470 V83D probably damaging Het
Osm A C 11: 4,238,426 I18L unknown Het
Otoa T A 7: 121,110,994 S254R probably damaging Het
Parp1 T C 1: 180,599,590 probably benign Het
Pcdh17 A G 14: 84,533,111 I1010V probably benign Het
Peli2 A T 14: 48,252,575 probably null Het
Pkd1l3 T G 8: 109,662,106 probably benign Het
Pkhd1 A G 1: 20,081,300 probably benign Het
Polg2 A C 11: 106,768,337 V450G probably benign Het
Ptpn13 A T 5: 103,516,348 T401S probably benign Het
Rgs22 C T 15: 36,043,204 probably null Het
Rttn T G 18: 89,043,028 S1107A probably benign Het
Scn5a G T 9: 119,537,636 N328K probably benign Het
Sned1 G A 1: 93,289,367 A1325T probably benign Het
St8sia4 T A 1: 95,660,870 E80V probably benign Het
Stard7 T C 2: 127,292,256 probably benign Het
Suco G T 1: 161,820,421 P1099T probably damaging Het
Syn2 G T 6: 115,274,260 C459F probably damaging Het
Tas2r117 A C 6: 132,803,078 I60L probably benign Het
Tcrg-C4 A G 13: 19,352,246 Y158C unknown Het
Tomm70a T C 16: 57,144,787 C445R probably damaging Het
Trpm6 A T 19: 18,838,082 E1177D possibly damaging Het
Vmn2r71 A T 7: 85,624,291 D771V probably damaging Het
Vmn2r93 A T 17: 18,304,958 T293S probably damaging Het
Other mutations in Tpsab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4449:Tpsab1 UTSW 17 25343782 small deletion probably benign
FR4976:Tpsab1 UTSW 17 25343782 small deletion probably benign
R0143:Tpsab1 UTSW 17 25343444 missense probably benign 0.03
R0254:Tpsab1 UTSW 17 25343745 missense probably damaging 1.00
R0432:Tpsab1 UTSW 17 25343824 splice site probably benign
R2512:Tpsab1 UTSW 17 25345107 missense probably damaging 1.00
R4907:Tpsab1 UTSW 17 25343462 missense possibly damaging 0.68
R5113:Tpsab1 UTSW 17 25345399 missense possibly damaging 0.53
R5982:Tpsab1 UTSW 17 25345372 missense probably benign 0.25
R6367:Tpsab1 UTSW 17 25343474 missense probably damaging 1.00
X0017:Tpsab1 UTSW 17 25343438 missense probably benign 0.03
X0022:Tpsab1 UTSW 17 25345207 missense probably benign
Posted On2016-08-02