Mutagenetix > Incidental Mutation

Incidental Mutation 'R8682:Tpsab1'

661842

Institutional Source

Beutler Lab

Gene Symbol

Tpsab1

Ensembl Gene

ENSMUSG00000024173

Gene Name

tryptase alpha/beta 1

Synonyms

Mcpt7, MMCP-7, Mcp-7

MMRRC Submission

068537-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25562219-25564536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25562685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 238 (H238L)

Ref Sequence

ENSEMBL: ENSMUSP00000120741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000153118]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000153118
AA Change: H238L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000120741
Gene: ENSMUSG00000024173
AA Change: H238L

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Tryp_SPc	65	302	3.63e-95	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,314,725 (GRCm39)	L141Q	probably null	Het
Abtb2	A	T	2: 103,397,720 (GRCm39)	T217S	probably benign	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Angpt4	A	G	2: 151,769,005 (GRCm39)	M172V	probably benign	Het
Apaf1	A	T	10: 90,831,532 (GRCm39)	V1194D	probably damaging	Het
Arhgap30	T	C	1: 171,234,970 (GRCm39)	S479P	probably benign	Het
Asah2	C	T	19: 32,030,277 (GRCm39)	V132M	probably damaging	Het
Bmp10	A	G	6: 87,410,541 (GRCm39)		probably null	Het
Bsn	T	C	9: 107,983,368 (GRCm39)	Y790C		Het
Cacna2d1	C	A	5: 16,558,837 (GRCm39)	R732S	possibly damaging	Het
Casr	A	T	16: 36,315,784 (GRCm39)	F762Y	possibly damaging	Het
Cbln1	T	C	8: 88,198,735 (GRCm39)	D45G	possibly damaging	Het
Cd177	A	T	7: 24,459,438 (GRCm39)	M61K	possibly damaging	Het
Cdh11	T	C	8: 103,377,348 (GRCm39)	I433V	probably benign	Het
Cdhr5	A	G	7: 140,855,899 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,568,358 (GRCm39)	K1622I	probably benign	Het
Cyp2d9	A	G	15: 82,337,917 (GRCm39)	D103G	probably damaging	Het
Dync2i1	A	T	12: 116,188,610 (GRCm39)	H661Q	probably damaging	Het
Eif4a3l1	A	G	6: 136,306,027 (GRCm39)	T163A	possibly damaging	Het
Fem1b	A	T	9: 62,704,432 (GRCm39)	L276*	probably null	Het
Fggy	T	A	4: 95,700,358 (GRCm39)	V343E	probably damaging	Het
Flt3	A	G	5: 147,320,265 (GRCm39)	V33A	probably benign	Het
Grn	T	C	11: 102,325,646 (GRCm39)	Y288H	probably benign	Het
Grtp1	G	A	8: 13,229,499 (GRCm39)	R272W	probably damaging	Het
H2-Aa	A	G	17: 34,502,734 (GRCm39)	I144T	possibly damaging	Het
Herc1	A	G	9: 66,370,130 (GRCm39)	D469G		Het
Hsf2	G	A	10: 57,381,267 (GRCm39)	E286K	possibly damaging	Het
Hydin	A	G	8: 111,035,798 (GRCm39)	E163G	probably damaging	Het
Il6ra	A	G	3: 89,793,976 (GRCm39)	I224T	possibly damaging	Het
Itih3	T	A	14: 30,642,673 (GRCm39)	I204F	possibly damaging	Het
Kcnj9	A	T	1: 172,153,680 (GRCm39)	M148K	possibly damaging	Het
Lepr	T	G	4: 101,649,269 (GRCm39)	V890G	probably benign	Het
Mslnl	A	G	17: 25,965,962 (GRCm39)	D612G	probably benign	Het
Myl2	T	A	5: 122,244,798 (GRCm39)	V156D	probably damaging	Het
Neb	C	A	2: 52,136,857 (GRCm39)	W3208L	probably damaging	Het
Neto2	T	C	8: 86,367,295 (GRCm39)	Y511C	probably benign	Het
Obi1	G	T	14: 104,717,669 (GRCm39)	R235S	probably damaging	Het
Obox2	C	A	7: 15,130,912 (GRCm39)	T48K	possibly damaging	Het
Or14a259	C	T	7: 86,013,373 (GRCm39)	M57I	probably damaging	Het
Or51f2	T	A	7: 102,526,646 (GRCm39)	F106L	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Osbpl6	C	G	2: 76,407,425 (GRCm39)	H486D	probably benign	Het
Pfkfb3	T	C	2: 11,489,144 (GRCm39)	K264E	probably benign	Het
Phf11	G	A	14: 59,496,033 (GRCm39)	T27I	probably benign	Het
Pla2r1	T	A	2: 60,253,120 (GRCm39)	T1324S	possibly damaging	Het
Plekhg1	A	T	10: 3,897,523 (GRCm39)	Y495F		Het
Ppp2r5d	T	C	17: 46,997,989 (GRCm39)	K225E	probably benign	Het
Ptpn11	T	C	5: 121,306,053 (GRCm39)	D64G	possibly damaging	Het
Ptprs	A	G	17: 56,742,849 (GRCm39)	I431T	probably damaging	Het
Rapgef5	T	C	12: 117,545,432 (GRCm39)	S100P	probably benign	Het
Shh	T	A	5: 28,663,058 (GRCm39)	H370L	probably benign	Het
Siah3	A	T	14: 75,763,043 (GRCm39)	H98L	possibly damaging	Het
Sim2	C	T	16: 93,924,192 (GRCm39)	H446Y	probably benign	Het
Skint4	T	C	4: 111,993,237 (GRCm39)	I320T	possibly damaging	Het
Sorcs1	A	T	19: 50,367,398 (GRCm39)	N221K	probably damaging	Het
Sox6	T	C	7: 115,076,191 (GRCm39)	S816G	probably damaging	Het
Sphkap	T	C	1: 83,256,997 (GRCm39)	T251A	probably benign	Het
Stard9	T	C	2: 120,533,796 (GRCm39)	V3351A	possibly damaging	Het
Tbc1d15	A	G	10: 115,046,195 (GRCm39)	V436A	probably benign	Het
Thsd7b	A	T	1: 129,688,011 (GRCm39)	K641*	probably null	Het
Tmc5	G	T	7: 118,269,925 (GRCm39)	V892F	possibly damaging	Het
Trank1	A	G	9: 111,194,412 (GRCm39)	N812S	probably benign	Het
Trio	T	A	15: 27,905,278 (GRCm39)	N163Y	unknown	Het
Ttc39d	A	G	17: 80,524,693 (GRCm39)	T451A	probably benign	Het
Ube3b	T	C	5: 114,550,351 (GRCm39)	L832P	probably damaging	Het
Vmn2r15	C	A	5: 109,441,938 (GRCm39)	C165F	probably damaging	Het
Vmn2r90	T	C	17: 17,932,344 (GRCm39)	F84L	possibly damaging	Het
Wdr95	C	T	5: 149,518,752 (GRCm39)	T531I	possibly damaging	Het
Zcrb1	C	A	15: 93,284,118 (GRCm39)	G191V	probably benign	Het
Zfp111	G	A	7: 23,897,983 (GRCm39)	P544S	probably damaging	Het
Zfyve9	T	C	4: 108,576,539 (GRCm39)	S181G	probably benign	Het

Other mutations in Tpsab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6367:Tpsab1	UTSW	17	25,562,448 (GRCm39)	missense	probably damaging	1.00
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
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'- CAGGTGTCTTCTACCTTGCAG -3'
(R):5'- CAGGTTGGCAGAGCTGAATG -3'

Sequencing Primer
(F):5'- TTCTACCTTGCAGACCAGAGG -3'
(R):5'- GGACTTGTGAGCAGAACTATCCTC -3'

Posted On

2021-03-08