Mutagenetix > Incidental Mutation

Incidental Mutation 'R5601:Prss58'

439020

Institutional Source

Beutler Lab

Gene Symbol

Prss58

Ensembl Gene

ENSMUSG00000051936

Gene Name

serine protease 58

Synonyms

BC048599

MMRRC Submission

043153-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R5601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40872204-40877321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40874783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 19 (N19K)

Ref Sequence

ENSEMBL: ENSMUSP00000069833 (fasta)

Gene Model

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

AlphaFold

Q8BW11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063523
AA Change: N19K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069833
Gene: ENSMUSG00000051936
AA Change: N19K

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.3%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,931,029 (GRCm39)	V426I	probably benign	Het
Asmt	T	C	X: 169,110,127 (GRCm39)	V212A	probably damaging	Het
Atn1	A	G	6: 124,720,191 (GRCm39)		probably null	Het
Auts2	G	T	5: 131,505,662 (GRCm39)		probably benign	Het
AW551984	C	T	9: 39,502,563 (GRCm39)	V672M	possibly damaging	Het
Bltp3a	C	A	17: 28,103,468 (GRCm39)	A392D	probably damaging	Het
Ccdc13	G	A	9: 121,629,638 (GRCm39)	Q114*	probably null	Het
Ces2e	A	T	8: 105,656,126 (GRCm39)	I146F	probably benign	Het
Cfap44	A	G	16: 44,280,549 (GRCm39)	K1443E	probably damaging	Het
Cma2	T	A	14: 56,211,246 (GRCm39)	H179Q	possibly damaging	Het
Cpsf2	G	T	12: 101,951,614 (GRCm39)		probably null	Het
Cwh43	A	G	5: 73,575,283 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dram1	A	G	10: 88,160,629 (GRCm39)	S231P	probably damaging	Het
Fbxw7	A	G	3: 84,883,515 (GRCm39)	D482G	probably damaging	Het
Fstl1	T	C	16: 37,647,161 (GRCm39)	I177T	probably benign	Het
Fut9	T	C	4: 25,620,299 (GRCm39)	T172A	probably benign	Het
Gm5134	G	A	10: 75,821,786 (GRCm39)	V207M	probably damaging	Het
Hccs	G	A	X: 168,096,597 (GRCm39)	R203C	probably damaging	Het
Hmgxb3	A	T	18: 61,270,694 (GRCm39)	F877I	probably damaging	Het
Ide	A	G	19: 37,292,379 (GRCm39)	V272A	unknown	Het
Impact	C	T	18: 13,109,064 (GRCm39)	T65I	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Muc17	A	G	5: 137,166,863 (GRCm39)	S309P	probably damaging	Het
Myf6	A	C	10: 107,330,475 (GRCm39)	S31A	probably damaging	Het
Or4n4b	C	A	14: 50,536,318 (GRCm39)	W149C	probably damaging	Het
Or8b35	C	G	9: 37,904,010 (GRCm39)	T74R	possibly damaging	Het
P4hb	T	A	11: 120,462,441 (GRCm39)	E88D	possibly damaging	Het
Pcdhb9	T	C	18: 37,535,259 (GRCm39)	C418R	probably damaging	Het
Pramel51	T	C	12: 88,142,817 (GRCm39)	D267G	probably damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Ptprq	C	T	10: 107,444,291 (GRCm39)	A1438T	probably benign	Het
Rfx4	A	T	10: 84,634,442 (GRCm39)	T61S	probably damaging	Het
Sclt1	T	A	3: 41,685,354 (GRCm39)	N35Y	probably benign	Het
Sec24b	CTG	CTGGTG	3: 129,834,483 (GRCm39)		probably benign	Het
Serpinb12	T	C	1: 106,881,427 (GRCm39)	I188T	probably damaging	Het
Slc27a4	A	T	2: 29,695,672 (GRCm39)	Y69F	probably benign	Het
Slc3a1	T	C	17: 85,340,319 (GRCm39)	V247A	probably benign	Het
Slc4a2	C	T	5: 24,643,772 (GRCm39)	T854I	probably benign	Het
Stat5b	G	A	11: 100,674,001 (GRCm39)	T761M	probably damaging	Het
Stkld1	T	C	2: 26,842,717 (GRCm39)	L563P	probably damaging	Het
Tbc1d23	C	A	16: 57,018,672 (GRCm39)	C283F	probably benign	Het
Tcaf3	T	C	6: 42,564,462 (GRCm39)	N900S	possibly damaging	Het
Tkfc	T	C	19: 10,571,927 (GRCm39)	T370A	probably benign	Het
Tpr	T	C	1: 150,311,604 (GRCm39)	V1868A	possibly damaging	Het
Triobp	T	A	15: 78,857,833 (GRCm39)	W1145R	probably damaging	Het
Vmn2r82	T	G	10: 79,232,025 (GRCm39)	L675V	probably damaging	Het
Zfp423	T	C	8: 88,508,637 (GRCm39)	E444G	probably damaging	Het

Other mutations in Prss58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Prss58	APN	6	40,872,399 (GRCm39)	missense	probably damaging	1.00
IGL01108:Prss58	APN	6	40,874,278 (GRCm39)	missense	probably damaging	1.00
IGL01645:Prss58	APN	6	40,874,244 (GRCm39)	missense	probably damaging	0.98
R0032:Prss58	UTSW	6	40,872,633 (GRCm39)	missense	probably benign	0.00
R0032:Prss58	UTSW	6	40,872,633 (GRCm39)	missense	probably benign	0.00
R1622:Prss58	UTSW	6	40,874,248 (GRCm39)	missense	possibly damaging	0.84
R2511:Prss58	UTSW	6	40,874,734 (GRCm39)	missense	probably damaging	1.00
R4292:Prss58	UTSW	6	40,874,244 (GRCm39)	missense	probably damaging	0.98
R5093:Prss58	UTSW	6	40,874,751 (GRCm39)	missense	probably damaging	1.00
R5992:Prss58	UTSW	6	40,874,703 (GRCm39)	missense	probably damaging	1.00
R6806:Prss58	UTSW	6	40,874,666 (GRCm39)	missense	probably damaging	0.98
R7105:Prss58	UTSW	6	40,874,700 (GRCm39)	missense	probably damaging	1.00
R7136:Prss58	UTSW	6	40,876,987 (GRCm39)	critical splice donor site	probably null
R7344:Prss58	UTSW	6	40,872,399 (GRCm39)	missense	probably damaging	1.00
R7699:Prss58	UTSW	6	40,872,322 (GRCm39)	missense	probably damaging	1.00
R7700:Prss58	UTSW	6	40,872,322 (GRCm39)	missense	probably damaging	1.00
R7954:Prss58	UTSW	6	40,872,543 (GRCm39)	missense	possibly damaging	0.92
R8305:Prss58	UTSW	6	40,872,594 (GRCm39)	missense	probably benign	0.00
R8370:Prss58	UTSW	6	40,872,358 (GRCm39)	missense	probably damaging	1.00
R9488:Prss58	UTSW	6	40,874,382 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGTGACCTGAGAACTCAAAGAG -3'
(R):5'- GTGTCCATGCGCATTTGTAC -3'

Sequencing Primer
(F):5'- TGACCTGAGAACTCAAAGAGTAAAAC -3'
(R):5'- CTTTGCTGTTATACTTTTGAACT -3'

Posted On

2016-10-26