Mutagenetix > Incidental Mutation

Incidental Mutation 'R9488:Prss58'

716746

Institutional Source

Beutler Lab

Gene Symbol

Prss58

Ensembl Gene

ENSMUSG00000051936

Gene Name

serine protease 58

Synonyms

BC048599

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R9488 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40872204-40877321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40874382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 98 (I98T)

Ref Sequence

ENSEMBL: ENSMUSP00000069833 (fasta)

Gene Model

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

AlphaFold

Q8BW11

Predicted Effect

probably benign
Transcript: ENSMUST00000063523
AA Change: I98T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000069833
Gene: ENSMUSG00000051936
AA Change: I98T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,643,212 (GRCm39)	I294L	probably benign	Het
Ankrd35	A	T	3: 96,589,343 (GRCm39)	K187N	probably damaging	Het
Arhgap40	C	T	2: 158,391,571 (GRCm39)	T631M	possibly damaging	Het
Arpin	T	C	7: 79,584,979 (GRCm39)	Y5C	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,724 (GRCm39)	Y77C		Het
Cdk17	A	G	10: 93,044,066 (GRCm39)	K2E	probably damaging	Het
Cdk18	A	G	1: 132,049,260 (GRCm39)	F86L	probably benign	Het
Cfap418	A	G	4: 10,893,271 (GRCm39)	D130G	probably damaging	Het
Clca4a	T	C	3: 144,659,532 (GRCm39)	T775A	probably damaging	Het
Clvs2	T	A	10: 33,389,301 (GRCm39)	D313V	possibly damaging	Het
Col6a5	T	C	9: 105,741,788 (GRCm39)	Y2377C	probably damaging	Het
Drd2	T	C	9: 49,311,094 (GRCm39)	V115A	probably damaging	Het
Dsp	A	G	13: 38,377,218 (GRCm39)	R1668G	probably benign	Het
Eif2d	T	A	1: 131,082,962 (GRCm39)	V102E	probably damaging	Het
Fmo4	A	G	1: 162,631,337 (GRCm39)	V210A	probably damaging	Het
Galntl5	A	G	5: 25,415,437 (GRCm39)	R323G	probably damaging	Het
Git2	T	C	5: 114,904,533 (GRCm39)	T129A	probably benign	Het
Gm572	A	G	4: 148,752,913 (GRCm39)	H264R	possibly damaging	Het
Hnrnpll	T	C	17: 80,369,385 (GRCm39)	T13A	unknown	Het
Ighv7-4	T	C	12: 114,186,619 (GRCm39)	Y51C	probably damaging	Het
Irag2	G	A	6: 145,113,753 (GRCm39)	R307Q	probably damaging	Het
Jam2	A	G	16: 84,619,676 (GRCm39)	D289G	probably damaging	Het
Krt27	A	G	11: 99,239,535 (GRCm39)		probably null	Het
Lama5	T	C	2: 179,823,234 (GRCm39)	N2704S	possibly damaging	Het
Lhx8	A	T	3: 154,033,764 (GRCm39)	S70T	possibly damaging	Het
Lmo7	C	A	14: 102,122,783 (GRCm39)	T324N	possibly damaging	Het
Man2a1	A	G	17: 65,040,734 (GRCm39)	T907A	possibly damaging	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mga	C	T	2: 119,795,304 (GRCm39)	A2996V	possibly damaging	Het
Mybpc1	A	T	10: 88,379,624 (GRCm39)	M625K	possibly damaging	Het
Ncald	T	A	15: 37,372,369 (GRCm39)	N159Y	probably damaging	Het
Nfasc	T	C	1: 132,527,866 (GRCm39)	T832A	possibly damaging	Het
P2rx5	T	A	11: 73,056,427 (GRCm39)	I117N		Het
Pcdhb3	C	A	18: 37,435,416 (GRCm39)	R461S	possibly damaging	Het
Polr1b	T	C	2: 128,967,417 (GRCm39)	S937P	probably damaging	Het
Prep	C	A	10: 44,996,807 (GRCm39)	Q362K		Het
Prg4	T	C	1: 150,327,024 (GRCm39)	M342V	probably benign	Het
Prr14	A	T	7: 127,073,687 (GRCm39)	T184S	possibly damaging	Het
Pum3	T	C	19: 27,394,188 (GRCm39)	T361A	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Sema4c	A	G	1: 36,591,067 (GRCm39)	V424A	probably benign	Het
Sema6a	A	T	18: 47,437,216 (GRCm39)	I58N	probably damaging	Het
Slc13a3	T	A	2: 165,250,851 (GRCm39)	Y506F	probably damaging	Het
Slc15a2	A	G	16: 36,579,651 (GRCm39)	V365A	probably benign	Het
Slc39a5	G	A	10: 128,233,628 (GRCm39)	L290F	probably damaging	Het
Spata31f1a	A	G	4: 42,850,560 (GRCm39)	V532A	probably benign	Het
Taf6l	T	C	19: 8,759,436 (GRCm39)	T161A	probably benign	Het
Tbl2	T	A	5: 135,187,471 (GRCm39)	C243S	probably benign	Het
Tet2	A	T	3: 133,193,103 (GRCm39)	S444T	probably benign	Het
Thoc1	C	T	18: 9,992,168 (GRCm39)	L499F	probably damaging	Het
Tnc	A	G	4: 63,913,942 (GRCm39)	V1290A	probably damaging	Het
Tnpo1	T	C	13: 98,990,003 (GRCm39)	D716G	probably damaging	Het
Tpp2	A	T	1: 44,041,272 (GRCm39)	K1236N	probably benign	Het
Tshr	T	C	12: 91,504,589 (GRCm39)	V509A	probably damaging	Het
U2surp	T	C	9: 95,356,535 (GRCm39)	T775A		Het
Ubap2l	T	C	3: 89,928,656 (GRCm39)	T486A	probably benign	Het
Usp28	C	A	9: 48,935,288 (GRCm39)	P457T	probably damaging	Het
Usp44	A	G	10: 93,682,851 (GRCm39)	I387V	possibly damaging	Het
Vmn1r225	A	G	17: 20,722,793 (GRCm39)	D78G	probably damaging	Het
Vps13b	T	C	15: 35,447,880 (GRCm39)	M537T	possibly damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zfp1005	G	A	2: 150,110,477 (GRCm39)	G389D	unknown	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	probably benign	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
R5601:Prss58	UTSW	6	40,874,783 (GRCm39)	missense	possibly damaging	0.92
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

Predicted Primers

PCR Primer
(F):5'- TTGAAGCTCAGGGAAGAGTCC -3'
(R):5'- TGGAAGATCTTCAGGGAATGTTAC -3'

Sequencing Primer
(F):5'- GAGTCCTCAGAGAATGCCAGC -3'
(R):5'- TCTTCAGGGAATGTTACAGAAAATTG -3'

Posted On

2022-07-18