Mutagenetix > Incidental Mutation

Incidental Mutation 'R6649:Prss53'

527683

Institutional Source

Beutler Lab

Gene Symbol

Prss53

Ensembl Gene

ENSMUSG00000044139

Gene Name

serine protease 53

Synonyms

BC039632

MMRRC Submission

044770-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127485013-127490142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127485747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 531 (E531A)

Ref Sequence

ENSEMBL: ENSMUSP00000112972 (fasta)

Gene Model

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

AlphaFold

Q571E5

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: ENSMUST00000121394
AA Change: E531A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139
AA Change: E531A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206340

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Abra	G	A	15: 41,732,629 (GRCm39)	L146F	probably benign	Het
Adamts7	T	C	9: 90,073,990 (GRCm39)	C857R	probably damaging	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
Asb16	A	T	11: 102,159,863 (GRCm39)	Q72L	possibly damaging	Het
Atosa	T	G	9: 74,917,432 (GRCm39)	L677R	probably damaging	Het
Bbox1	G	T	2: 110,135,914 (GRCm39)	H22N	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh18	A	T	15: 23,436,620 (GRCm39)	Y492F	possibly damaging	Het
Cep290	A	C	10: 100,354,393 (GRCm39)	D848A	probably benign	Het
Cip2a	A	T	16: 48,837,829 (GRCm39)	Q843L	probably damaging	Het
Cmya5	G	C	13: 93,234,533 (GRCm39)	S185C	possibly damaging	Het
Cops9	C	T	1: 92,568,136 (GRCm39)		probably benign	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fat3	T	C	9: 16,288,038 (GRCm39)	D495G	probably damaging	Het
Fsip2	T	C	2: 82,798,161 (GRCm39)	V485A	possibly damaging	Het
Gm14496	A	T	2: 181,639,269 (GRCm39)	H453L	possibly damaging	Het
Gm17027	T	C	14: 41,981,236 (GRCm39)	T207A	unknown	Het
Gm6902	T	G	7: 22,973,159 (GRCm39)	T123P	possibly damaging	Het
Gpat2	T	G	2: 127,274,355 (GRCm39)	W366G	possibly damaging	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hsd17b14	T	C	7: 45,205,500 (GRCm39)	V11A	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kmt5b	G	A	19: 3,857,295 (GRCm39)	G351R	probably damaging	Het
Mau2	G	T	8: 70,484,166 (GRCm39)	Q141K	possibly damaging	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Mfsd13a	A	G	19: 46,360,704 (GRCm39)	H394R	probably benign	Het
Mfsd14b	A	T	13: 65,214,599 (GRCm39)	I451N	probably damaging	Het
Milr1	C	T	11: 106,648,537 (GRCm39)	H143Y	probably benign	Het
Mon2	T	G	10: 122,874,385 (GRCm39)	K321T	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Nwd2	A	G	5: 63,882,527 (GRCm39)	R60G	possibly damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or52b2	T	C	7: 104,986,914 (GRCm39)	H3R	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Papola	A	T	12: 105,778,566 (GRCm39)	I315L	possibly damaging	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phyhipl	A	G	10: 70,404,843 (GRCm39)	F77L	probably damaging	Het
Ppp3cb	A	G	14: 20,581,094 (GRCm39)	L110P	probably damaging	Het
Raf1	A	T	6: 115,608,302 (GRCm39)	H236Q	probably benign	Het
Ryr2	A	G	13: 11,610,529 (GRCm39)	V4099A	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Sh3pxd2b	T	C	11: 32,365,978 (GRCm39)		probably null	Het
Slco6c1	C	T	1: 97,053,436 (GRCm39)	S155N	probably benign	Het
Speer4f2	A	G	5: 17,580,767 (GRCm39)	T115A	probably benign	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	probably benign	Het
Zfp938	A	T	10: 82,061,232 (GRCm39)	Y463N	probably damaging	Het

Other mutations in Prss53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Prss53	APN	7	127,485,724 (GRCm39)	missense	probably benign
IGL02244:Prss53	APN	7	127,487,964 (GRCm39)	missense	possibly damaging	0.73
IGL02310:Prss53	APN	7	127,485,786 (GRCm39)	missense	probably benign	0.37
PIT4515001:Prss53	UTSW	7	127,487,963 (GRCm39)	missense	probably benign	0.01
R1933:Prss53	UTSW	7	127,485,434 (GRCm39)	makesense	probably null
R1934:Prss53	UTSW	7	127,485,920 (GRCm39)	splice site	probably null
R1994:Prss53	UTSW	7	127,486,565 (GRCm39)	missense	probably benign	0.03
R2304:Prss53	UTSW	7	127,487,479 (GRCm39)	missense	probably benign
R2307:Prss53	UTSW	7	127,490,037 (GRCm39)	missense	probably benign
R4934:Prss53	UTSW	7	127,487,879 (GRCm39)	missense	probably benign
R7854:Prss53	UTSW	7	127,488,117 (GRCm39)	missense	probably benign	0.27
R8899:Prss53	UTSW	7	127,488,193 (GRCm39)	missense	possibly damaging	0.90
R9182:Prss53	UTSW	7	127,487,554 (GRCm39)	missense	probably benign	0.01
R9314:Prss53	UTSW	7	127,490,039 (GRCm39)	missense	probably benign
R9492:Prss53	UTSW	7	127,488,802 (GRCm39)	missense	probably damaging	0.99
R9657:Prss53	UTSW	7	127,486,238 (GRCm39)	missense	probably damaging	1.00
Z1088:Prss53	UTSW	7	127,486,570 (GRCm39)	nonsense	probably null
Z1177:Prss53	UTSW	7	127,488,721 (GRCm39)	missense	probably damaging	1.00
Z1177:Prss53	UTSW	7	127,488,246 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTGTCTTGGCCCCTATGG -3'
(R):5'- GTAACCTGCTCCCTAACAGG -3'

Sequencing Primer
(F):5'- CCCTATGGAGTGTGGGAGAC -3'
(R):5'- TAACAGGGCCTCTCTGGG -3'

Posted On

2018-07-23