Mutagenetix > Incidental Mutations

Incidental Mutation 'R6545:Prss34'

521148

Institutional Source

Beutler Lab

Gene Symbol

Prss34

Ensembl Gene

ENSMUSG00000056399

Gene Name

protease, serine 34

Synonyms

mMcp-11, mast cell protease 11

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6545 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25298394-25300161 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25298835 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 61 (R61S)

Ref Sequence

ENSEMBL: ENSMUSP00000045672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037453]

Predicted Effect

probably benign
Transcript: ENSMUST00000037453
AA Change: R61S

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045672
Gene: ENSMUSG00000056399
AA Change: R61S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	34	277	1.41e-92	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,454,352	A58T	possibly damaging	Het
Ago4	T	A	4: 126,512,018	Q366L	probably benign	Het
Card10	C	A	15: 78,776,810	G950V	probably damaging	Het
Ceacam1	A	T	7: 25,473,854	V303D	probably damaging	Het
Cfap54	C	T	10: 92,836,457	R2917H	probably benign	Het
Cit	A	G	5: 115,846,434	S22G	probably null	Het
Cog4	A	G	8: 110,880,945	E666G	probably damaging	Het
Crocc2	A	G	1: 93,212,937	D1103G	probably benign	Het
Cttnbp2	A	T	6: 18,405,279		probably null	Het
Dctn3	T	C	4: 41,723,084	E16G	probably damaging	Het
Dnah6	A	G	6: 73,044,732	S3536P	probably damaging	Het
Eef2	T	A	10: 81,181,114	I675N	probably damaging	Het
Gga3	A	G	11: 115,587,169	F531S	possibly damaging	Het
Gm19410	A	G	8: 35,790,498	R697G	possibly damaging	Het
Gm3173	T	A	14: 4,514,810	M18K	possibly damaging	Het
Gm35339	C	T	15: 76,363,378	R1585C	probably damaging	Het
Gm5800	A	T	14: 51,711,962	S175R	possibly damaging	Het
Gria2	T	C	3: 80,741,144	K95R	probably damaging	Het
Gstm6	A	G	3: 107,942,365	I76T	probably damaging	Het
Harbi1	T	G	2: 91,712,295	Y34D	probably damaging	Het
Hectd2	C	A	19: 36,587,378	Q20K	probably benign	Het
Inpp5f	C	A	7: 128,694,556	A250D	possibly damaging	Het
Irf9	T	C	14: 55,605,227	F59L	probably damaging	Het
Itgam	T	A	7: 128,107,872	M625K	probably damaging	Het
Kcnh5	C	T	12: 75,007,658	R504Q	probably damaging	Het
Lama2	T	C	10: 27,176,797	T1389A	probably benign	Het
Lin54	T	A	5: 100,485,137		probably null	Het
Mettl23	A	G	11: 116,849,216	D171G	possibly damaging	Het
Mgll	A	G	6: 88,825,703	N296S	probably benign	Het
Mpv17	T	A	5: 31,144,697		probably benign	Het
Myof	A	T	19: 37,942,297	M1001K	possibly damaging	Het
Myom1	A	T	17: 71,082,305	Q850L	probably benign	Het
Olfr509	A	T	7: 108,646,455	N40K	probably damaging	Het
Pias2	A	G	18: 77,130,085	I328V	possibly damaging	Het
Polh	G	A	17: 46,182,759	P311S	possibly damaging	Het
Rassf2	A	T	2: 131,998,317	M280K	probably damaging	Het
Rpsa	A	G	9: 120,130,257	H47R	probably benign	Het
Rtp3	A	G	9: 110,986,826	V219A	possibly damaging	Het
Smarcc2	T	C	10: 128,484,128	I790T	probably benign	Het
Stag3	A	G	5: 138,298,352	T491A	possibly damaging	Het
Svil	C	T	18: 5,108,621	H2007Y	probably benign	Het
Togaram1	T	G	12: 64,978,207	C750G	possibly damaging	Het
Vmn2r13	A	T	5: 109,156,940		probably null	Het
Vmn2r4	A	T	3: 64,406,356	D401E	possibly damaging	Het
Wsb1	A	T	11: 79,251,055	D45E	probably damaging	Het
Zfp808	T	A	13: 62,171,895	Y313N	probably benign	Het

Other mutations in Prss34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01762:Prss34	APN	17	25299812	missense	probably benign	0.04
IGL02756:Prss34	APN	17	25299277	missense	probably damaging	1.00
PIT4382001:Prss34	UTSW	17	25298908	critical splice donor site	probably null
R0106:Prss34	UTSW	17	25298726	missense	probably damaging	0.96
R0106:Prss34	UTSW	17	25298726	missense	probably damaging	0.96
R3430:Prss34	UTSW	17	25299104	missense	probably benign	0.30
R3615:Prss34	UTSW	17	25298846	missense	probably benign	0.32
R3616:Prss34	UTSW	17	25298846	missense	probably benign	0.32
R7298:Prss34	UTSW	17	25299763	missense	probably damaging	1.00
R7956:Prss34	UTSW	17	25299579	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCACTGATGCCTGAGCCTTG -3'
(R):5'- AGTAAGGAAAATCAATCCCGGC -3'

Sequencing Primer
(F):5'- CCTTGGGAGCCTCTGTCTG -3'
(R):5'- TCAGTCAGAACAGATGTGGGGATC -3'

Posted On

2018-06-06