Mutagenetix > Incidental Mutations

Incidental Mutation 'R6117:Prss54'

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485163

Institutional Source

Beutler Lab

Gene Symbol

Prss54

Ensembl Gene

ENSMUSG00000048400

Gene Name

protease, serine 54

Synonyms

4931432M23Rik

MMRRC Submission

044266-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6117 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95559069-95576340 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 95565458 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052690] [ENSMUST00000180075] [ENSMUST00000180075] [ENSMUST00000213096] [ENSMUST00000213096]

Predicted Effect

probably null
Transcript: ENSMUST00000052690

SMART Domains

Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	28	253	1.88e-15	SMART
low complexity region	348	359	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000180075

SMART Domains

Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	28	253	1.63e-15	SMART
low complexity region	348	359	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000180075

SMART Domains

Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	28	253	1.63e-15	SMART
low complexity region	348	359	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212513

Predicted Effect

probably null
Transcript: ENSMUST00000213096

Predicted Effect

probably null
Transcript: ENSMUST00000213096

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,698,786	Y625C	probably damaging	Het
Ankmy1	A	G	1: 92,861,274		probably benign	Het
Apmap	T	C	2: 150,600,332	T41A	probably benign	Het
Cacna1a	A	G	8: 84,614,721	Y1804C	probably damaging	Het
Cacna1e	A	T	1: 154,561,791	I333N	possibly damaging	Het
Cdsn	C	A	17: 35,555,034	S153R	unknown	Het
Celsr1	A	T	15: 85,932,411	M1777K	probably benign	Het
Cmtr1	A	G	17: 29,682,165	M249V	probably benign	Het
Cmya5	A	G	13: 93,095,166	L1138P	probably damaging	Het
Crim1	A	C	17: 78,303,088	D324A	probably damaging	Het
Dmap1	T	A	4: 117,675,535		probably null	Het
Dnah17	T	C	11: 118,119,571	Y307C	probably benign	Het
Dnah5	T	A	15: 28,270,420	L956H	probably damaging	Het
Enpp3	C	T	10: 24,787,852	S537N	probably damaging	Het
Eya3	T	A	4: 132,711,862	L323Q	probably damaging	Het
Fads3	A	T	19: 10,054,267	H226L	probably damaging	Het
Flrt3	T	A	2: 140,660,445	D421V	possibly damaging	Het
Frmd4a	T	C	2: 4,602,249	V370A	possibly damaging	Het
Gapvd1	T	C	2: 34,690,459		probably null	Het
Gm2178	T	C	14: 26,514,840		probably benign	Het
Gm5592	A	G	7: 41,288,464	N390S	probably benign	Het
Hoxa10	T	A	6: 52,234,820	R39*	probably null	Het
Kcnj1	A	G	9: 32,397,182	T281A	probably damaging	Het
Myo10	T	C	15: 25,805,659	Y1709H	probably benign	Het
Nacad	T	C	11: 6,599,810	D1127G	probably benign	Het
Naip1	T	A	13: 100,444,737	M1L	probably damaging	Het
Olfr1331	A	T	4: 118,869,144	Y121F	probably benign	Het
Olfr811	G	A	10: 129,801,820	A235V	probably damaging	Het
Olfr811	C	A	10: 129,801,821	A235S	probably damaging	Het
Pcdhb12	G	A	18: 37,435,642		probably benign	Het
Pde1b	T	C	15: 103,521,482	V134A	probably damaging	Het
Plxnb2	A	T	15: 89,158,000	D1600E	probably benign	Het
Ryr3	A	T	2: 112,635,396	I4757N	probably damaging	Het
Slc1a6	T	C	10: 78,788,988	Y76H	possibly damaging	Het
Slco3a1	C	T	7: 74,318,506	D489N	probably benign	Het
Sox15	G	T	11: 69,655,890	G173V	possibly damaging	Het
Stard3	T	C	11: 98,372,262	S48P	probably damaging	Het
Stk32c	G	A	7: 139,122,923	Q67*	probably null	Het
Svil	T	A	18: 5,116,016	W2101R	probably damaging	Het
Taar7e	T	A	10: 24,038,529	Y306N	probably damaging	Het
Tarbp1	T	A	8: 126,427,541	M1485L	probably benign	Het
Togaram1	A	G	12: 64,967,487	D504G	probably damaging	Het
Trrap	T	C	5: 144,802,961	L1091S	possibly damaging	Het
Unc80	A	G	1: 66,675,067	E2856G	possibly damaging	Het
Usp47	C	T	7: 112,087,932	T699M	probably damaging	Het

Other mutations in Prss54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02340:Prss54	APN	8	95565609	missense	probably benign	0.17
IGL02598:Prss54	APN	8	95565709	missense	probably damaging	0.99
IGL03085:Prss54	APN	8	95565630	missense	probably benign	0.02
R0324:Prss54	UTSW	8	95565667	missense	probably benign	0.00
R0733:Prss54	UTSW	8	95559740	missense	possibly damaging	0.90
R1487:Prss54	UTSW	8	95559648	missense	probably benign	0.01
R2272:Prss54	UTSW	8	95571107	nonsense	probably null
R4769:Prss54	UTSW	8	95559375	missense	probably benign
R5275:Prss54	UTSW	8	95564478	missense	probably damaging	1.00
R5295:Prss54	UTSW	8	95564478	missense	probably damaging	1.00
R6167:Prss54	UTSW	8	95559545	missense	possibly damaging	0.71
R6791:Prss54	UTSW	8	95564655	splice site	probably null
R7179:Prss54	UTSW	8	95565571	missense	probably benign	0.03
R7261:Prss54	UTSW	8	95559739	missense	probably benign	0.02
R7864:Prss54	UTSW	8	95559669	missense	probably benign	0.22
R8284:Prss54	UTSW	8	95559366	nonsense	probably null
R8318:Prss54	UTSW	8	95564466	missense	probably damaging	0.99
Z1177:Prss54	UTSW	8	95564451	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-08-16