Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02310:Prss53'

287776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss53

Ensembl Gene

ENSMUSG00000044139

Gene Name

serine protease 53

Synonyms

BC039632

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02310

Quality Score

Status

Chromosome

Chromosomal Location

127485013-127490142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127485786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 518 (D518A)

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: D518A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139
AA Change: D518A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	T	A	10: 88,859,740 (GRCm39)	K382*	probably null	Het
Apoc2l	A	G	7: 19,405,688 (GRCm39)	*98Q	probably null	Het
Bcl9l	A	G	9: 44,420,602 (GRCm39)	Y1299C	probably damaging	Het
Best1	T	A	19: 9,966,516 (GRCm39)	H357L	probably benign	Het
Cdc26	T	C	4: 62,313,266 (GRCm39)		probably benign	Het
Esyt2	C	T	12: 116,329,541 (GRCm39)	L700F	probably benign	Het
Fkbp15	T	C	4: 62,258,553 (GRCm39)	Y138C	probably damaging	Het
Gbp6	T	C	5: 105,438,841 (GRCm39)	N16D	probably benign	Het
Hecw2	T	C	1: 53,963,075 (GRCm39)	D812G	probably null	Het
Hic2	G	A	16: 17,075,621 (GRCm39)	R150Q	probably damaging	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Klhl36	T	A	8: 120,596,356 (GRCm39)		probably null	Het
Matcap2	A	G	9: 22,335,724 (GRCm39)	Y114C	probably benign	Het
Mug2	C	T	6: 122,036,082 (GRCm39)		probably benign	Het
Or9s14	T	C	1: 92,535,787 (GRCm39)	V76A	possibly damaging	Het
Pdcl2	A	T	5: 76,465,728 (GRCm39)	I116N	probably damaging	Het
Pip4p1	T	C	14: 51,166,667 (GRCm39)	T187A	possibly damaging	Het
Pkn2	A	G	3: 142,517,341 (GRCm39)	I482T	probably damaging	Het
Psme4	A	G	11: 30,787,484 (GRCm39)	D1093G	probably benign	Het
Tmcc2	A	T	1: 132,286,645 (GRCm39)	I602N	probably damaging	Het
Ttn	C	T	2: 76,619,035 (GRCm39)	V16115I	possibly damaging	Het
Zbtb21	G	T	16: 97,752,990 (GRCm39)	T459K	possibly 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
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
R6649:Prss53	UTSW	7	127,485,747 (GRCm39)	missense	probably benign	0.37
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

Posted On

2015-04-16