Mutagenetix > Incidental Mutations

Incidental Mutation 'R4292:Prss58'

323115

Institutional Source

Beutler Lab

Gene Symbol

Prss58

Ensembl Gene

ENSMUSG00000051936

Gene Name

protease, serine 58

Synonyms

BC048599

Accession Numbers

Is this an essential gene?

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

Stock #

R4292 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40895270-40900387 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40897310 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 144 (D144G)

Ref Sequence

ENSEMBL: ENSMUSP00000069833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063523]

Predicted Effect

probably damaging
Transcript: ENSMUST00000063523
AA Change: D144G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069833
Gene: ENSMUSG00000051936
AA Change: D144G

Domain	Start	End	E-Value	Type
Tryp_SPc	22	234	4.49e-36	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,795,996	K1232E	possibly damaging	Het
Angel1	A	G	12: 86,720,283	Y440H	probably damaging	Het
Bclaf1	A	G	10: 20,323,778	Q20R	probably damaging	Het
Bivm	A	T	1: 44,138,633	R364S	probably damaging	Het
Brwd1	G	A	16: 96,017,604	P1343S	probably damaging	Het
C330027C09Rik	T	A	16: 49,013,249	F571Y	probably benign	Het
Cckar	A	G	5: 53,706,497	S41P	probably benign	Het
Cep68	A	T	11: 20,240,079	V311D	probably damaging	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Gcn1l1	G	A	5: 115,576,148	A116T	possibly damaging	Het
Gucy1a1	A	T	3: 82,094,759	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,314,587	M48L	possibly damaging	Het
Kif18a	A	T	2: 109,298,126	I376L	probably damaging	Het
Lbr	C	T	1: 181,820,702	C398Y	probably damaging	Het
Myh2	A	G	11: 67,194,897	K1855R	possibly damaging	Het
Olfr1396	T	A	11: 49,113,427	I100L	probably benign	Het
Olfr1450	G	A	19: 12,954,156	C189Y	possibly damaging	Het
Olfr926	A	G	9: 38,877,313	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,322,681	S705T	possibly damaging	Het
Pdss2	A	G	10: 43,221,838	Y26C	probably benign	Het
Pgm2l1	A	G	7: 100,250,301	T41A	probably damaging	Het
Rrp12	T	C	19: 41,872,905		probably null	Het
Sash1	A	G	10: 8,730,242	S795P	possibly damaging	Het
Sec16a	A	G	2: 26,422,155	Y1998H	probably benign	Het
Slc22a21	T	C	11: 53,969,503	D34G	probably damaging	Het
Slco4c1	C	G	1: 96,844,656		probably null	Het
Srsf6	T	C	2: 162,934,716		probably benign	Het
Tgfb2	T	C	1: 186,632,538	H253R	probably damaging	Het
Top3b	A	T	16: 16,883,519	I232F	probably damaging	Het
Trim24	G	A	6: 37,900,692	R39H	possibly damaging	Het
Tsc22d1	T	A	14: 76,418,880	M851K	probably benign	Het
Ttn	A	G	2: 76,932,511	V3268A	possibly damaging	Het
Unc79	A	T	12: 103,183,444	Q2599L	probably damaging	Het
Vmn1r192	T	A	13: 22,187,295	I252F	probably damaging	Het
Vwce	A	G	19: 10,659,632	T693A	probably benign	Het

Other mutations in Prss58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Prss58	APN	6	40895465	missense	probably damaging	1.00
IGL01108:Prss58	APN	6	40897344	missense	probably damaging	1.00
IGL01645:Prss58	APN	6	40897310	missense	probably damaging	0.98
R0032:Prss58	UTSW	6	40895699	missense	probably benign	0.00
R0032:Prss58	UTSW	6	40895699	missense	probably benign	0.00
R1622:Prss58	UTSW	6	40897314	missense	possibly damaging	0.84
R2511:Prss58	UTSW	6	40897800	missense	probably damaging	1.00
R5093:Prss58	UTSW	6	40897817	missense	probably damaging	1.00
R5601:Prss58	UTSW	6	40897849	missense	possibly damaging	0.92
R5992:Prss58	UTSW	6	40897769	missense	probably damaging	1.00
R6806:Prss58	UTSW	6	40897732	missense	probably damaging	0.98
R7105:Prss58	UTSW	6	40897766	missense	probably damaging	1.00
R7136:Prss58	UTSW	6	40900053	critical splice donor site	probably null
R7344:Prss58	UTSW	6	40895465	missense	probably damaging	1.00
R7699:Prss58	UTSW	6	40895388	missense	probably damaging	1.00
R7700:Prss58	UTSW	6	40895388	missense	probably damaging	1.00
R7954:Prss58	UTSW	6	40895609	missense	possibly damaging	0.92
R8305:Prss58	UTSW	6	40895660	missense	probably benign	0.00
R8370:Prss58	UTSW	6	40895424	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTCCTGTTACACATTACTAGG -3'
(R):5'- CCAGCAGATCCCATGGAAAG -3'

Sequencing Primer
(F):5'- GTCCTGTTACACATTACTAGGTATTC -3'
(R):5'- AAGGGATGTGGAGGTGTCTGAC -3'

Posted On

2015-06-20