Mutagenetix > Incidental Mutation

Incidental Mutation 'R6117:Prss54'

485163

Institutional Source

Beutler Lab

Gene Symbol

Prss54

Ensembl Gene

ENSMUSG00000048400

Gene Name

serine protease 54

Synonyms

4931432M23Rik

MMRRC Submission

044266-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6117 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96285694-96302965 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 96292086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148608 (fasta)

Gene Model

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

AlphaFold

Q7M756

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: 76,348,534 (GRCm39)	Y625C	probably damaging	Het
Ankmy1	A	G	1: 92,788,996 (GRCm39)		probably benign	Het
Apmap	T	C	2: 150,442,252 (GRCm39)	T41A	probably benign	Het
Cacna1a	A	G	8: 85,341,350 (GRCm39)	Y1804C	probably damaging	Het
Cacna1e	A	T	1: 154,437,537 (GRCm39)	I333N	possibly damaging	Het
Cdsn	C	A	17: 35,865,931 (GRCm39)	S153R	unknown	Het
Celsr1	A	T	15: 85,816,612 (GRCm39)	M1777K	probably benign	Het
Cmtr1	A	G	17: 29,901,139 (GRCm39)	M249V	probably benign	Het
Cmya5	A	G	13: 93,231,674 (GRCm39)	L1138P	probably damaging	Het
Crim1	A	C	17: 78,610,517 (GRCm39)	D324A	probably damaging	Het
Dmap1	T	A	4: 117,532,732 (GRCm39)		probably null	Het
Dnah17	T	C	11: 118,010,397 (GRCm39)	Y307C	probably benign	Het
Dnah5	T	A	15: 28,270,566 (GRCm39)	L956H	probably damaging	Het
Enpp3	C	T	10: 24,663,750 (GRCm39)	S537N	probably damaging	Het
Eya3	T	A	4: 132,439,173 (GRCm39)	L323Q	probably damaging	Het
Fads3	A	T	19: 10,031,631 (GRCm39)	H226L	probably damaging	Het
Flrt3	T	A	2: 140,502,365 (GRCm39)	D421V	possibly damaging	Het
Frmd4a	T	C	2: 4,607,060 (GRCm39)	V370A	possibly damaging	Het
Gapvd1	T	C	2: 34,580,471 (GRCm39)		probably null	Het
Gm2178	T	C	14: 26,235,995 (GRCm39)		probably benign	Het
Gm5592	A	G	7: 40,937,888 (GRCm39)	N390S	probably benign	Het
Hoxa10	T	A	6: 52,211,800 (GRCm39)	R39*	probably null	Het
Kcnj1	A	G	9: 32,308,478 (GRCm39)	T281A	probably damaging	Het
Myo10	T	C	15: 25,805,745 (GRCm39)	Y1709H	probably benign	Het
Nacad	T	C	11: 6,549,810 (GRCm39)	D1127G	probably benign	Het
Naip1	T	A	13: 100,581,245 (GRCm39)	M1L	probably damaging	Het
Or10ak9	A	T	4: 118,726,341 (GRCm39)	Y121F	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Pcdhb12	G	A	18: 37,568,695 (GRCm39)		probably benign	Het
Pde1b	T	C	15: 103,429,909 (GRCm39)	V134A	probably damaging	Het
Plxnb2	A	T	15: 89,042,203 (GRCm39)	D1600E	probably benign	Het
Ryr3	A	T	2: 112,465,741 (GRCm39)	I4757N	probably damaging	Het
Slc1a6	T	C	10: 78,624,822 (GRCm39)	Y76H	possibly damaging	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Sox15	G	T	11: 69,546,716 (GRCm39)	G173V	possibly damaging	Het
Stard3	T	C	11: 98,263,088 (GRCm39)	S48P	probably damaging	Het
Stk32c	G	A	7: 138,702,839 (GRCm39)	Q67*	probably null	Het
Svil	T	A	18: 5,116,016 (GRCm39)	W2101R	probably damaging	Het
Taar7e	T	A	10: 23,914,427 (GRCm39)	Y306N	probably damaging	Het
Tarbp1	T	A	8: 127,154,280 (GRCm39)	M1485L	probably benign	Het
Togaram1	A	G	12: 65,014,261 (GRCm39)	D504G	probably damaging	Het
Trrap	T	C	5: 144,739,771 (GRCm39)	L1091S	possibly damaging	Het
Unc80	A	G	1: 66,714,226 (GRCm39)	E2856G	possibly damaging	Het
Usp47	C	T	7: 111,687,139 (GRCm39)	T699M	probably damaging	Het

Other mutations in Prss54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02340:Prss54	APN	8	96,292,237 (GRCm39)	missense	probably benign	0.17
IGL02598:Prss54	APN	8	96,292,337 (GRCm39)	missense	probably damaging	0.99
IGL03085:Prss54	APN	8	96,292,258 (GRCm39)	missense	probably benign	0.02
R0324:Prss54	UTSW	8	96,292,295 (GRCm39)	missense	probably benign	0.00
R0733:Prss54	UTSW	8	96,286,368 (GRCm39)	missense	possibly damaging	0.90
R1487:Prss54	UTSW	8	96,286,276 (GRCm39)	missense	probably benign	0.01
R2272:Prss54	UTSW	8	96,297,735 (GRCm39)	nonsense	probably null
R4769:Prss54	UTSW	8	96,286,003 (GRCm39)	missense	probably benign
R5275:Prss54	UTSW	8	96,291,106 (GRCm39)	missense	probably damaging	1.00
R5295:Prss54	UTSW	8	96,291,106 (GRCm39)	missense	probably damaging	1.00
R6167:Prss54	UTSW	8	96,286,173 (GRCm39)	missense	possibly damaging	0.71
R6791:Prss54	UTSW	8	96,291,283 (GRCm39)	splice site	probably null
R7179:Prss54	UTSW	8	96,292,199 (GRCm39)	missense	probably benign	0.03
R7261:Prss54	UTSW	8	96,286,367 (GRCm39)	missense	probably benign	0.02
R7864:Prss54	UTSW	8	96,286,297 (GRCm39)	missense	probably benign	0.22
R8284:Prss54	UTSW	8	96,285,994 (GRCm39)	nonsense	probably null
R8318:Prss54	UTSW	8	96,291,094 (GRCm39)	missense	probably damaging	0.99
R8747:Prss54	UTSW	8	96,286,351 (GRCm39)	missense	probably benign	0.05
R8780:Prss54	UTSW	8	96,286,057 (GRCm39)	missense	probably benign
R9004:Prss54	UTSW	8	96,292,137 (GRCm39)	missense	possibly damaging	0.62
Z1177:Prss54	UTSW	8	96,291,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-08-16