Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03185:Prss50'

412454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss50

Ensembl Gene

ENSMUSG00000048752

Gene Name

serine protease 50

Synonyms

Tsp50

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL03185

Quality Score

Status

Chromosome

Chromosomal Location

110687035-110693697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110687279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 74 (Y74C)

Ref Sequence

ENSEMBL: ENSMUSP00000059668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051097] [ENSMUST00000119427] [ENSMUST00000176403]

AlphaFold

Q8BLH5

Predicted Effect

probably benign
Transcript: ENSMUST00000051097
AA Change: Y74C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059668
Gene: ENSMUSG00000048752
AA Change: Y74C

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
low complexity region	112	127	N/A	INTRINSIC
Tryp_SPc	172	407	2.87e-43	SMART
low complexity region	425	439	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119427

SMART Domains

Protein: ENSMUSP00000112855
Gene: ENSMUSG00000049719

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	40	273	1.62e-60	SMART
transmembrane domain	288	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176403

SMART Domains

Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719

Domain	Start	End	E-Value	Type
Tryp_SPc	43	276	1.62e-60	SMART
transmembrane domain	291	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196027

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,255,212 (GRCm39)	D77G	probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Babam2	T	C	5: 31,859,376 (GRCm39)	I27T	possibly damaging	Het
Ccdc150	A	G	1: 54,339,482 (GRCm39)	E442G	probably damaging	Het
Ccdc92	A	G	5: 124,913,014 (GRCm39)	Y172H	probably damaging	Het
Chl1	T	A	6: 103,642,824 (GRCm39)	D187E	probably damaging	Het
Col6a4	A	T	9: 105,896,653 (GRCm39)	F1721I	probably damaging	Het
Corin	C	T	5: 72,490,124 (GRCm39)	G542D	probably damaging	Het
Dennd1c	C	T	17: 57,373,803 (GRCm39)	D587N	probably benign	Het
Dnah10	A	G	5: 124,894,707 (GRCm39)	Y3424C	probably damaging	Het
Echdc1	T	A	10: 29,207,836 (GRCm39)	F127I	possibly damaging	Het
F13b	T	A	1: 139,444,124 (GRCm39)	V486E	probably benign	Het
Fkbp15	C	T	4: 62,250,423 (GRCm39)		probably null	Het
Glt8d2	T	A	10: 82,498,110 (GRCm39)	I100F	probably damaging	Het
Gmip	C	T	8: 70,262,433 (GRCm39)	P10L	probably benign	Het
Grm7	T	C	6: 110,623,183 (GRCm39)	S119P	possibly damaging	Het
Klf4	T	C	4: 55,530,911 (GRCm39)	T58A	possibly damaging	Het
Mink1	T	C	11: 70,494,686 (GRCm39)	I289T	probably damaging	Het
Mptx2	A	T	1: 173,102,356 (GRCm39)	V111D	possibly damaging	Het
Muc5b	A	T	7: 141,416,559 (GRCm39)	E3168D	possibly damaging	Het
Mylk3	C	A	8: 86,053,833 (GRCm39)	V695F	probably damaging	Het
Or11j4	C	A	14: 50,630,855 (GRCm39)	T214K	probably damaging	Het
Or7g21	T	A	9: 19,033,034 (GRCm39)	V258E	probably damaging	Het
Pcare	A	T	17: 72,056,332 (GRCm39)	I1115K	probably damaging	Het
Pira13	A	G	7: 3,826,229 (GRCm39)	Y255H	probably damaging	Het
Poglut2	G	A	1: 44,156,359 (GRCm39)	S76L	probably benign	Het
Pprc1	C	A	19: 46,058,186 (GRCm39)		probably benign	Het
Prkaa2	C	T	4: 104,896,918 (GRCm39)		probably null	Het
Rnf145	T	C	11: 44,422,157 (GRCm39)	L80P	probably damaging	Het
Serpinb3b	T	C	1: 107,084,662 (GRCm39)	I120V	probably benign	Het
Sgca	T	C	11: 94,861,610 (GRCm39)	M212V	probably benign	Het
Slc1a6	T	A	10: 78,637,741 (GRCm39)	D422E	probably damaging	Het
Slc30a9	A	G	5: 67,490,406 (GRCm39)	R226G	probably benign	Het
Slc5a11	A	G	7: 122,864,412 (GRCm39)	D336G	possibly damaging	Het
Slfn8	T	C	11: 82,908,333 (GRCm39)	H70R	probably benign	Het
Stoml2	T	C	4: 43,029,065 (GRCm39)	N269S	probably benign	Het
Synrg	A	G	11: 83,872,305 (GRCm39)	E142G	probably damaging	Het
Thbs2	G	A	17: 14,901,672 (GRCm39)	Q436*	probably null	Het
Tyk2	T	C	9: 21,020,680 (GRCm39)	N917S	probably damaging	Het
Zfhx4	C	A	3: 5,468,974 (GRCm39)	T3069K	probably benign	Het
Zfp446	G	T	7: 12,712,925 (GRCm39)	V88F	probably null	Het
Zp3	A	G	5: 136,011,575 (GRCm39)	N131S	possibly damaging	Het

Other mutations in Prss50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Prss50	APN	9	110,691,474 (GRCm39)	missense	possibly damaging	0.89
IGL01838:Prss50	APN	9	110,693,560 (GRCm39)	missense	probably benign	0.38
R0347:Prss50	UTSW	9	110,691,418 (GRCm39)	missense	probably damaging	0.97
R1545:Prss50	UTSW	9	110,690,336 (GRCm39)	missense	probably damaging	0.99
R1660:Prss50	UTSW	9	110,691,557 (GRCm39)	missense	possibly damaging	0.61
R1844:Prss50	UTSW	9	110,687,081 (GRCm39)	unclassified	probably benign
R1969:Prss50	UTSW	9	110,691,449 (GRCm39)	missense	probably damaging	0.97
R2025:Prss50	UTSW	9	110,690,328 (GRCm39)	missense	probably benign	0.00
R2090:Prss50	UTSW	9	110,691,361 (GRCm39)	missense	probably damaging	1.00
R2917:Prss50	UTSW	9	110,691,613 (GRCm39)	missense	probably null	1.00
R4063:Prss50	UTSW	9	110,687,480 (GRCm39)	missense	probably benign
R4799:Prss50	UTSW	9	110,692,864 (GRCm39)	missense	probably damaging	0.99
R5763:Prss50	UTSW	9	110,691,517 (GRCm39)	nonsense	probably null
R5984:Prss50	UTSW	9	110,691,454 (GRCm39)	missense	probably damaging	0.97
R6159:Prss50	UTSW	9	110,693,371 (GRCm39)	missense	probably benign	0.32
R6318:Prss50	UTSW	9	110,690,367 (GRCm39)	missense	probably damaging	1.00
R7296:Prss50	UTSW	9	110,690,357 (GRCm39)	missense	probably damaging	1.00
R7323:Prss50	UTSW	9	110,692,800 (GRCm39)	missense	possibly damaging	0.83
R7720:Prss50	UTSW	9	110,690,403 (GRCm39)	missense	probably damaging	1.00
R8359:Prss50	UTSW	9	110,691,370 (GRCm39)	missense	probably damaging	0.97
R8428:Prss50	UTSW	9	110,687,128 (GRCm39)	missense	unknown
R8841:Prss50	UTSW	9	110,687,480 (GRCm39)	missense	probably benign
R8851:Prss50	UTSW	9	110,687,081 (GRCm39)	unclassified	probably benign

Posted On

2016-08-02