Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01762:Prss34'

153276

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss34

Ensembl Gene

ENSMUSG00000056399

Gene Name

serine protease 34

Synonyms

mMcp-11, mast cell protease 11

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01762

Quality Score

Status

Chromosome

Chromosomal Location

25517368-25519139 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25518786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 256 (I256T)

Ref Sequence

ENSEMBL: ENSMUSP00000045672 (fasta)

Gene Model

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

AlphaFold

Q80UR4

Predicted Effect

probably benign
Transcript: ENSMUST00000037453
AA Change: I256T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045672
Gene: ENSMUSG00000056399
AA Change: I256T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	A	10: 43,050,847 (GRCm39)	L47*	probably null	Het
Abca13	A	T	11: 9,265,423 (GRCm39)	T3033S	probably benign	Het
Atp1a2	C	A	1: 172,112,480 (GRCm39)	V503L	possibly damaging	Het
Cacna1e	T	A	1: 154,347,119 (GRCm39)	D770V	possibly damaging	Het
Camkk1	A	G	11: 72,921,627 (GRCm39)		probably null	Het
Cd34	T	A	1: 194,621,341 (GRCm39)	M23K	probably benign	Het
Cndp1	T	A	18: 84,640,411 (GRCm39)	I265F	probably damaging	Het
Cux2	A	G	5: 122,011,208 (GRCm39)	I574T	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Galk1	A	G	11: 115,900,834 (GRCm39)	Y236H	probably damaging	Het
Gbp11	T	C	5: 105,475,473 (GRCm39)	I292V	probably benign	Het
Gprc5c	A	G	11: 114,754,850 (GRCm39)	I176V	probably benign	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Myh6	T	C	14: 55,199,538 (GRCm39)	K258E	probably benign	Het
Niban1	T	C	1: 151,512,242 (GRCm39)	V48A	probably damaging	Het
Nlrp9c	T	A	7: 26,084,850 (GRCm39)	D243V	probably damaging	Het
Nobox	T	G	6: 43,280,927 (GRCm39)	K516Q	probably damaging	Het
Nudcd3	A	G	11: 6,100,560 (GRCm39)	S195P	probably damaging	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pgbd5	C	T	8: 125,097,349 (GRCm39)	A394T	probably damaging	Het
Piezo1	G	A	8: 123,214,668 (GRCm39)	R1553*	probably null	Het
Prkd1	T	C	12: 50,434,013 (GRCm39)	I577V	probably benign	Het
Ptprg	A	G	14: 12,037,386 (GRCm38)	T189A	probably benign	Het
Ptprr	C	T	10: 116,072,638 (GRCm39)	T200I	probably damaging	Het
Samd8	C	T	14: 21,830,168 (GRCm39)	P198L	probably damaging	Het
Sema3c	T	C	5: 17,899,849 (GRCm39)	L447P	possibly damaging	Het
Slc22a23	A	T	13: 34,387,984 (GRCm39)	F371I	possibly damaging	Het
Slc2a2	A	G	3: 28,771,621 (GRCm39)	R184G	probably damaging	Het
Slitrk6	T	A	14: 110,989,056 (GRCm39)	D217V	probably damaging	Het
Tlr2	A	G	3: 83,744,301 (GRCm39)	V594A	probably benign	Het
Vmn2r109	A	G	17: 20,774,654 (GRCm39)	F234L	probably benign	Het
Vmn2r12	A	C	5: 109,234,430 (GRCm39)	L594R	probably damaging	Het
Vmn2r124	A	G	17: 18,283,434 (GRCm39)	Q376R	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,856 (GRCm39)	D567G	probably benign	Het

Other mutations in Prss34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02756:Prss34	APN	17	25,518,251 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Prss34	UTSW	17	25,517,882 (GRCm39)	critical splice donor site	probably null
R0106:Prss34	UTSW	17	25,517,700 (GRCm39)	missense	probably damaging	0.96
R0106:Prss34	UTSW	17	25,517,700 (GRCm39)	missense	probably damaging	0.96
R3430:Prss34	UTSW	17	25,518,078 (GRCm39)	missense	probably benign	0.30
R3615:Prss34	UTSW	17	25,517,820 (GRCm39)	missense	probably benign	0.32
R3616:Prss34	UTSW	17	25,517,820 (GRCm39)	missense	probably benign	0.32
R6545:Prss34	UTSW	17	25,517,809 (GRCm39)	missense	probably benign	0.45
R7298:Prss34	UTSW	17	25,518,737 (GRCm39)	missense	probably damaging	1.00
R7956:Prss34	UTSW	17	25,518,553 (GRCm39)	missense	probably benign	0.00

Posted On

2014-02-04