Mutagenetix > Incidental Mutations

Incidental Mutation 'R1622:Prss58'

174700

Institutional Source

Beutler Lab

Gene Symbol

Prss58

Ensembl Gene

ENSMUSG00000051936

Gene Name

protease, serine 58

Synonyms

BC048599

MMRRC Submission

039659-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R1622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40895270-40900387 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40897314 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 143 (C143S)

Ref Sequence

ENSEMBL: ENSMUSP00000069833 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063523
AA Change: C143S

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069833
Gene: ENSMUSG00000051936
AA Change: C143S

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

Meta Mutation Damage Score

0.1787

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,565,911	E207G	probably benign	Het
Arhgap19	T	A	19: 41,801,973	S19C	probably benign	Het
Arhgef18	T	A	8: 3,441,272	D374E	possibly damaging	Het
Atf2	A	G	2: 73,853,789		probably null	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cadm1	A	G	9: 47,813,841	N300S	probably benign	Het
Ccdc159	A	T	9: 21,929,370	I78F	possibly damaging	Het
Cdh4	T	C	2: 179,889,092	I589T	possibly damaging	Het
Clstn1	T	C	4: 149,629,407	I182T	probably damaging	Het
Cnga3	T	A	1: 37,244,828		probably benign	Het
Cntln	T	A	4: 85,063,181	S865R	probably damaging	Het
Col5a3	C	T	9: 20,772,220	G1552E	unknown	Het
Col6a4	A	C	9: 105,997,135	S2218A	probably benign	Het
Ephb1	T	C	9: 102,001,711	T527A	probably benign	Het
Fkbp15	T	A	4: 62,323,202	I569F	possibly damaging	Het
Gabra4	A	G	5: 71,571,986	S484P	possibly damaging	Het
Glce	T	C	9: 62,070,561	I14V	possibly damaging	Het
Gm4884	A	T	7: 41,042,841	Q78L	probably damaging	Het
Gpn1	A	G	5: 31,503,404	T180A	possibly damaging	Het
Gpr6	A	T	10: 41,071,292	I98N	probably damaging	Het
Hcrtr2	T	C	9: 76,323,440	N22S	probably benign	Het
Hfm1	C	T	5: 106,893,523	V665I	possibly damaging	Het
Il4ra	T	A	7: 125,570,053	I159N	possibly damaging	Het
Irf8	G	C	8: 120,739,822	C2S	possibly damaging	Het
Itih2	A	T	2: 10,102,079	N701K	probably benign	Het
Lrrc4b	GAGAAG	GAG	7: 44,462,230		probably benign	Het
Mmp10	T	A	9: 7,504,995	Y263*	probably null	Het
Morc3	T	A	16: 93,874,806	M835K	probably benign	Het
Msh3	A	G	13: 92,344,954		probably null	Het
Ncbp1	A	G	4: 46,171,963	H777R	possibly damaging	Het
Nfatc1	A	G	18: 80,666,967	M514T	probably damaging	Het
Nlrp3	T	A	11: 59,548,476	I293N	probably damaging	Het
Pank2	A	T	2: 131,273,969	E102D	probably damaging	Het
Pbrm1	A	G	14: 31,032,548	D175G	probably benign	Het
Pcdh9	T	C	14: 93,885,875	D953G	probably benign	Het
Pibf1	G	A	14: 99,186,481	V497I	probably benign	Het
Pkd1	G	A	17: 24,581,640	M3085I	probably benign	Het
Rassf8	A	G	6: 145,820,103		probably benign	Het
Spag7	T	A	11: 70,664,862	D73V	probably damaging	Het
Sult3a1	A	T	10: 33,870,250	M189L	probably benign	Het
Syt4	T	C	18: 31,444,016	D95G	probably damaging	Het
Tbc1d8	A	C	1: 39,380,236	S766A	probably benign	Het
Tmco5	A	T	2: 116,880,315	M39L	probably benign	Het
Trcg1	A	G	9: 57,248,672	N797S	possibly damaging	Het
Trim34a	A	T	7: 104,261,338		probably null	Het
Ubr5	T	C	15: 38,009,113		probably benign	Het
Urb2	A	G	8: 124,029,624	N690S	probably benign	Het
Zfp445	A	G	9: 122,852,549	Y776H	possibly damaging	Het
Zfp52	G	A	17: 21,561,571	M560I	probably benign	Het
Zfp608	A	G	18: 54,988,294	S74P	probably benign	Het
Zfp629	A	G	7: 127,611,840	C266R	probably damaging	Het
Zscan2	A	G	7: 80,875,386	K285R	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
R2511:Prss58	UTSW	6	40897800	missense	probably damaging	1.00
R4292:Prss58	UTSW	6	40897310	missense	probably damaging	0.98
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'- AGCTCTGAGACGAAAATAGAGTCCTGT -3'
(R):5'- GCACACTGCAATTTACCGTGAGTGATA -3'

Sequencing Primer
(F):5'- GACGAAAATAGAGTCCTGTTACAC -3'
(R):5'- TGAGTTCTCAGGTCACACATAGAC -3'

Posted On

2014-04-24