Incidental Mutation 'R6367:Tpsab1'
ID 512764
Institutional Source Beutler Lab
Gene Symbol Tpsab1
Ensembl Gene ENSMUSG00000024173
Gene Name tryptase alpha/beta 1
Synonyms Mcpt7, MMCP-7, Mcp-7
MMRRC Submission 044517-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6367 (G1)
Quality Score 206.009
Status Validated
Chromosome 17
Chromosomal Location 25562219-25564536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25562448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 293 (T293N)
Ref Sequence ENSEMBL: ENSMUSP00000120741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000153118]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146856
Predicted Effect probably damaging
Transcript: ENSMUST00000153118
AA Change: T293N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120741
Gene: ENSMUSG00000024173
AA Change: T293N

DomainStartEndE-ValueType
signal peptide 1 55 N/A INTRINSIC
Tryp_SPc 65 302 3.63e-95 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 98% (44/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,166,248 (GRCm39) N54D possibly damaging Het
Abca4 A C 3: 121,897,229 (GRCm39) Q636P probably damaging Het
Agk T C 6: 40,363,875 (GRCm39) F285S probably benign Het
Als2 C A 1: 59,238,299 (GRCm39) V678L probably benign Het
Arhgap17 T C 7: 122,907,586 (GRCm39) *231W probably null Het
Atp11b A G 3: 35,838,686 (GRCm39) T89A probably damaging Het
Axl A T 7: 25,486,858 (GRCm39) C50S probably damaging Het
Cachd1 A G 4: 100,860,167 (GRCm39) D1246G probably damaging Het
Dip2b A T 15: 100,013,795 (GRCm39) Q57L possibly damaging Het
Dnah14 A G 1: 181,582,951 (GRCm39) probably null Het
Enpep G T 3: 129,125,730 (GRCm39) T134N possibly damaging Het
Ets1 C T 9: 32,645,256 (GRCm39) Q168* probably null Het
Fanci T C 7: 79,075,943 (GRCm39) C529R probably damaging Het
Fbxw28 A G 9: 109,168,599 (GRCm39) probably null Het
Gucy2c C T 6: 136,686,776 (GRCm39) E796K probably damaging Het
Igsf9b G A 9: 27,220,821 (GRCm39) W62* probably null Het
Kcng1 C A 2: 168,104,572 (GRCm39) V425L probably damaging Het
Kndc1 T C 7: 139,493,422 (GRCm39) S463P probably damaging Het
Lrba G C 3: 86,275,869 (GRCm39) A1746P probably benign Het
Mgat4c G T 10: 102,221,015 (GRCm39) probably null Het
Nckap1l G A 15: 103,384,149 (GRCm39) M582I probably benign Het
Oacyl G T 18: 65,858,515 (GRCm39) R207L probably damaging Het
Or12e13 T C 2: 87,663,937 (GRCm39) C185R probably damaging Het
Or2m12 C T 16: 19,104,822 (GRCm39) V224M probably damaging Het
Or4c52 A G 2: 89,845,360 (GRCm39) I29V probably benign Het
Or51f5 C A 7: 102,424,036 (GRCm39) Q102K possibly damaging Het
Pacsin2 C T 15: 83,266,033 (GRCm39) A55T probably benign Het
Plekhm2 T C 4: 141,367,016 (GRCm39) D208G probably damaging Het
Ptpru T C 4: 131,501,663 (GRCm39) D1181G probably benign Het
Safb A G 17: 56,900,845 (GRCm39) probably benign Het
Scp2 T A 4: 107,969,447 (GRCm39) Y35F probably damaging Het
Secisbp2 A G 13: 51,836,177 (GRCm39) Y757C probably damaging Het
Sp110 C T 1: 85,522,013 (GRCm39) V97M probably benign Het
Ssx2ip A G 3: 146,124,921 (GRCm39) Y82C probably benign Het
Svopl A T 6: 37,996,614 (GRCm39) W288R possibly damaging Het
Tdg T C 10: 82,483,822 (GRCm39) Y345H possibly damaging Het
Tmem109 A G 19: 10,851,727 (GRCm39) F53S possibly damaging Het
Trpm8 A G 1: 88,287,405 (GRCm39) D796G probably damaging Het
Tuba1c T C 15: 98,935,334 (GRCm39) I265T probably damaging Het
Unc80 T C 1: 66,711,925 (GRCm39) V2749A probably benign Het
Utrn A G 10: 12,623,719 (GRCm39) L173P probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wbp2 G T 11: 115,974,741 (GRCm39) T31N probably benign Het
Wdr1 G T 5: 38,703,189 (GRCm39) A129D possibly damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Other mutations in Tpsab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03328:Tpsab1 APN 17 25,564,102 (GRCm39) missense probably benign 0.10
FR4449:Tpsab1 UTSW 17 25,562,756 (GRCm39) small deletion probably benign
FR4976:Tpsab1 UTSW 17 25,562,756 (GRCm39) small deletion probably benign
R0143:Tpsab1 UTSW 17 25,562,418 (GRCm39) missense probably benign 0.03
R0254:Tpsab1 UTSW 17 25,562,719 (GRCm39) missense probably damaging 1.00
R0432:Tpsab1 UTSW 17 25,562,798 (GRCm39) splice site probably benign
R2512:Tpsab1 UTSW 17 25,564,081 (GRCm39) missense probably damaging 1.00
R4907:Tpsab1 UTSW 17 25,562,436 (GRCm39) missense possibly damaging 0.68
R5113:Tpsab1 UTSW 17 25,564,373 (GRCm39) missense possibly damaging 0.53
R5982:Tpsab1 UTSW 17 25,564,346 (GRCm39) missense probably benign 0.25
R8271:Tpsab1 UTSW 17 25,564,305 (GRCm39) missense probably benign 0.28
R8434:Tpsab1 UTSW 17 25,564,445 (GRCm39) missense possibly damaging 0.96
R8682:Tpsab1 UTSW 17 25,562,685 (GRCm39) missense probably benign 0.04
X0017:Tpsab1 UTSW 17 25,562,412 (GRCm39) missense probably benign 0.03
X0022:Tpsab1 UTSW 17 25,564,181 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTACTTGAGTGGAAGGCAG -3'
(R):5'- CGAGATGACATGCTGTGTGC -3'

Sequencing Primer
(F):5'- TACTTGAGTGGAAGGCAGAAGAATTG -3'
(R):5'- TGAAGGACATGACTCCTGCCAG -3'
Posted On 2018-04-27