Mutagenetix > Incidental Mutations

Incidental Mutation 'R2304:Prss53'

244529

Institutional Source

Beutler Lab

Gene Symbol

Prss53

Ensembl Gene

ENSMUSG00000044139

Gene Name

protease, serine 53

Synonyms

BC039632

MMRRC Submission

040303-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2304 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127885841-127890970 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127888307 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 291 (N291D)

Ref Sequence

ENSEMBL: ENSMUSP00000145763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033074] [ENSMUST00000050383] [ENSMUST00000119922] [ENSMUST00000121394] [ENSMUST00000205300] [ENSMUST00000206053]

Predicted Effect

probably benign
Transcript: ENSMUST00000033074

SMART Domains

Protein: ENSMUSP00000033074
Gene: ENSMUSG00000096145

Domain	Start	End	E-Value	Type
VKc	5	153	1.29e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050383

SMART Domains

Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	31	1.36e-2	SMART
ZnF_C2H2	67	89	5.29e-5	SMART
ZnF_C2H2	231	253	3.21e-4	SMART
ZnF_C2H2	258	280	9.58e-3	SMART
ZnF_C2H2	286	308	2.24e-3	SMART
low complexity region	345	362	N/A	INTRINSIC
ZnF_C2H2	366	388	5.42e-2	SMART
ZnF_C2H2	393	415	8.34e-3	SMART
ZnF_C2H2	457	479	5.9e-3	SMART
ZnF_C2H2	484	506	4.87e-4	SMART
ZnF_C2H2	566	588	2.32e-1	SMART
ZnF_C2H2	606	628	6.32e-3	SMART
ZnF_C2H2	633	655	1.53e-1	SMART
low complexity region	737	750	N/A	INTRINSIC
low complexity region	786	797	N/A	INTRINSIC
ZnF_C2H2	806	828	2.17e-1	SMART
ZnF_C2H2	833	855	3.69e-4	SMART
ZnF_C2H2	866	889	1.16e-1	SMART
low complexity region	890	911	N/A	INTRINSIC
ZnF_C2H2	941	961	9.31e1	SMART
ZnF_C2H2	1035	1057	1.95e-3	SMART
ZnF_C2H2	1062	1084	3.39e-3	SMART
low complexity region	1149	1163	N/A	INTRINSIC
ZnF_C2H2	1170	1192	1.58e-3	SMART
ZnF_C2H2	1197	1219	5.42e-2	SMART
ZnF_C2H2	1225	1247	3.69e-4	SMART
ZnF_C2H2	1266	1286	5.12e1	SMART
ZnF_C2H2	1293	1315	3.69e-4	SMART
ZnF_C2H2	1333	1355	3.11e-2	SMART
ZnF_C2H2	1550	1572	5.9e-3	SMART
ZnF_C2H2	1640	1662	1.08e-1	SMART
ZnF_C2H2	1667	1689	4.11e-2	SMART
ZnF_C2H2	1695	1717	4.11e-2	SMART
ZnF_C2H2	1724	1746	1.45e-2	SMART
low complexity region	1751	1764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119922

SMART Domains

Protein: ENSMUSP00000112542
Gene: ENSMUSG00000096145

Domain	Start	End	E-Value	Type
Pfam:VKOR	3	85	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121394
AA Change: N291D

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

SMART Domains

Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139
AA Change: N291D

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	38	268	3.91e-45	SMART
Tryp_SPc	300	520	9.95e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126662

SMART Domains

Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804

Domain	Start	End	E-Value	Type
VKc	1	111	8.84e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205300
AA Change: N291D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206053

Predicted Effect

probably benign
Transcript: ENSMUST00000206340

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,092,366	R806S	probably damaging	Het
Ccdc187	T	C	2: 26,281,017	K483R	possibly damaging	Het
Dcdc5	T	A	2: 106,336,143		noncoding transcript	Het
Dvl1	C	T	4: 155,855,584	S391F	probably damaging	Het
Erg28	A	G	12: 85,816,163	L125P	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm5449	G	T	13: 53,525,863		noncoding transcript	Het
Grid2ip	T	C	5: 143,387,840	Y796H	probably damaging	Het
Mcrip1	A	T	11: 120,544,693	F39I	probably damaging	Het
Olfr1135	T	A	2: 87,671,894	I158L	probably benign	Het
Ptpru	A	T	4: 131,772,568	V1255D	probably damaging	Het
Rbl1	T	C	2: 157,147,631	T1023A	probably benign	Het
Rnaseh2b	T	C	14: 62,361,389	S188P	probably damaging	Het
Sh2d6	T	C	6: 72,520,559	E20G	probably damaging	Het
Slc13a5	A	G	11: 72,259,039	V172A	probably damaging	Het
Slco5a1	C	T	1: 12,879,262	G635S	probably damaging	Het
Sp8	G	T	12: 118,848,569	S53I	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Togaram1	G	T	12: 64,976,856		probably null	Het
Trip11	A	T	12: 101,898,977	F146I	possibly damaging	Het
Vmn1r184	T	C	7: 26,267,125	S99P	probably damaging	Het
Xpot	T	C	10: 121,611,583	I325V	probably benign	Het
Zfp786	A	G	6: 47,820,699	L435P	probably damaging	Het

Other mutations in Prss53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Prss53	APN	7	127886552	missense	probably benign
IGL02244:Prss53	APN	7	127888792	missense	possibly damaging	0.73
IGL02310:Prss53	APN	7	127886614	missense	probably benign	0.37
PIT4515001:Prss53	UTSW	7	127888791	missense	probably benign	0.01
R1933:Prss53	UTSW	7	127886262	makesense	probably null
R1934:Prss53	UTSW	7	127886748	splice site	probably null
R1994:Prss53	UTSW	7	127887393	missense	probably benign	0.03
R2307:Prss53	UTSW	7	127890865	missense	probably benign
R4934:Prss53	UTSW	7	127888707	missense	probably benign
R6649:Prss53	UTSW	7	127886575	missense	probably benign	0.37
R7854:Prss53	UTSW	7	127888945	missense	probably benign	0.27
Z1088:Prss53	UTSW	7	127887398	nonsense	probably null
Z1177:Prss53	UTSW	7	127889074	missense	probably damaging	1.00
Z1177:Prss53	UTSW	7	127889549	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTATCCTAAAAGGGGCCTTAGC -3'
(R):5'- TTCTGGCTCCAGGGAGATTC -3'

Sequencing Primer
(F):5'- AAGGGGCCTTAGCAAATCTCCTG -3'
(R):5'- ACCTGTGATGTGCCGTGAG -3'

Posted On

2014-10-30