Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01981:Plg'

183513

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plg

Ensembl Gene

ENSMUSG00000059481

Gene Name

plasminogen

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

IGL01981

Quality Score

Status

Chromosome

Chromosomal Location

12378609-12419384 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 12403047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000014578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014578]

AlphaFold

P20918

Predicted Effect

probably benign
Transcript: ENSMUST00000014578

SMART Domains

Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PAN_AP	20	97	8.67e-14	SMART
KR	101	183	1.31e-41	SMART
KR	184	264	5.4e-43	SMART
KR	273	354	3.45e-50	SMART
KR	375	456	3.9e-49	SMART
KR	479	562	5.53e-40	SMART
Tryp_SPc	581	805	4.11e-94	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted blood zymogen that is activated by proteolysis and converted to plasmin and angiostatin. Plasmin dissolves fibrin in blood clots and is an important protease in many other cellular processes while angiostatin inhibits angiogenesis. Defects in this gene are likely a cause of thrombophilia and ligneous conjunctivitis. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous null mutants exhibit retarded growth, variable rectal prolapse, impaired fertility and lactation in females, early mortality, and widespread fibrin deposition and thrombotic lesions in liver, lung, stomach and other tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	T	17: 33,067,654	G58E	probably damaging	Het
Akt2	A	C	7: 27,638,074	D417A	probably benign	Het
Ap1b1	T	A	11: 5,019,336	S231T	possibly damaging	Het
Arhgap31	G	A	16: 38,601,573	T1377I	probably damaging	Het
Cdkl3	A	G	11: 52,005,069	T48A	probably benign	Het
Chd3	T	C	11: 69,360,675	Y510C	probably damaging	Het
Chml	A	G	1: 175,688,185	S57P	probably damaging	Het
Cpxm1	G	T	2: 130,394,140	C367*	probably null	Het
D930020B18Rik	A	G	10: 121,692,414	T428A	probably damaging	Het
Dnaja3	A	T	16: 4,701,169	I325F	probably damaging	Het
Erbb3	A	G	10: 128,571,650	V943A	probably benign	Het
Fam110b	A	G	4: 5,799,481	I300V	probably benign	Het
Fam193a	A	G	5: 34,431,193	E76G	probably damaging	Het
Fbxl3	G	A	14: 103,095,464	T26M	possibly damaging	Het
Furin	A	G	7: 80,392,899	L380P	probably damaging	Het
Fxr2	A	C	11: 69,650,502	I354L	possibly damaging	Het
Garnl3	G	T	2: 32,997,729	N756K	probably damaging	Het
Gimap1	A	G	6: 48,743,324	Y290C	probably damaging	Het
Gm11639	A	T	11: 104,721,432		probably benign	Het
Gm5592	G	A	7: 41,286,371	W99*	probably null	Het
Hexdc	G	T	11: 121,216,993	S183I	possibly damaging	Het
Hmg20a	C	T	9: 56,477,230	P95S	probably damaging	Het
Jhy	A	T	9: 40,895,546	I769N	probably damaging	Het
Lrrd1	G	T	5: 3,851,267	C524F	probably damaging	Het
Musk	C	A	4: 58,296,629	S76R	probably damaging	Het
Myom3	C	T	4: 135,785,849	R613*	probably null	Het
Naa16	T	A	14: 79,381,516	E172D	probably benign	Het
Obox6	A	T	7: 15,834,921	M10K	possibly damaging	Het
Olfr1039	A	T	2: 86,130,830	Y278N	probably benign	Het
Pam	C	T	1: 97,834,441	V700M	probably damaging	Het
Pkd1l2	C	A	8: 117,016,916	R1978L	probably benign	Het
Pkhd1	T	A	1: 20,523,567	T1441S	possibly damaging	Het
Pot1a	A	G	6: 25,750,100	L521P	probably damaging	Het
Pramef17	G	A	4: 143,994,354	P6S	probably damaging	Het
Ptprj	A	T	2: 90,439,912	V1280E	probably damaging	Het
Rcbtb2	T	C	14: 73,164,782	S136P	possibly damaging	Het
Rtl1	C	T	12: 109,591,935	E1157K	possibly damaging	Het
Sell	G	A	1: 164,065,626	R137Q	probably benign	Het
Shisa9	A	T	16: 12,244,658	M248L	probably benign	Het
Spag17	A	G	3: 100,058,833	E1144G	probably benign	Het
Sphk2	G	T	7: 45,710,733	Q616K	probably benign	Het
Tecrl	T	C	5: 83,294,606	T207A	probably benign	Het
Ubr5	T	C	15: 37,996,598	T1885A	probably benign	Het
Usp24	T	C	4: 106,375,768		probably benign	Het
Usp32	A	G	11: 85,036,524	M622T	probably benign	Het
Vangl1	A	G	3: 102,184,291	F160L	probably damaging	Het
Vps13d	T	C	4: 145,086,747	S3289G	probably damaging	Het
Wdfy4	A	G	14: 33,133,716	F647S	probably damaging	Het
Wdhd1	A	G	14: 47,261,450	L509P	probably damaging	Het
Zcchc2	A	G	1: 106,027,499	E640G	probably damaging	Het
Zfp563	T	A	17: 33,105,409	I326N	probably benign	Het

Other mutations in Plg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Plg	APN	17	12411493	missense	probably damaging	1.00
IGL01128:Plg	APN	17	12396699	splice site	probably benign
IGL01522:Plg	APN	17	12404069	missense	probably damaging	1.00
IGL03338:Plg	APN	17	12419072	missense	probably damaging	1.00
elder	UTSW	17	12390220	nonsense	probably null
oldster	UTSW	17	12395754	missense	probably damaging	1.00
R0391:Plg	UTSW	17	12419081	missense	probably damaging	1.00
R0531:Plg	UTSW	17	12411447	splice site	probably benign
R0646:Plg	UTSW	17	12418736	missense	probably damaging	1.00
R0759:Plg	UTSW	17	12410951	missense	probably damaging	1.00
R1013:Plg	UTSW	17	12378721	splice site	probably benign
R2116:Plg	UTSW	17	12384477	missense	probably damaging	0.99
R2442:Plg	UTSW	17	12410960	missense	probably benign	0.15
R2512:Plg	UTSW	17	12403229	missense	probably benign
R2879:Plg	UTSW	17	12404100	missense	possibly damaging	0.92
R3107:Plg	UTSW	17	12384429	missense	probably benign	0.00
R3405:Plg	UTSW	17	12403209	missense	possibly damaging	0.65
R4409:Plg	UTSW	17	12390263	missense	probably damaging	1.00
R4861:Plg	UTSW	17	12395735	missense	probably benign	0.00
R4861:Plg	UTSW	17	12395735	missense	probably benign	0.00
R4977:Plg	UTSW	17	12403089	missense	probably damaging	1.00
R4990:Plg	UTSW	17	12411510	missense	probably benign
R5319:Plg	UTSW	17	12403227	missense	possibly damaging	0.49
R5443:Plg	UTSW	17	12382183	missense	probably benign	0.03
R5635:Plg	UTSW	17	12395754	missense	probably damaging	1.00
R5981:Plg	UTSW	17	12378718	critical splice donor site	probably null
R6166:Plg	UTSW	17	12398114	missense	probably damaging	0.99
R6688:Plg	UTSW	17	12391845	missense	probably damaging	1.00
R6726:Plg	UTSW	17	12378708	missense	probably damaging	1.00
R6995:Plg	UTSW	17	12419051	missense	probably benign	0.00
R7028:Plg	UTSW	17	12391836	missense	probably damaging	1.00
R7168:Plg	UTSW	17	12388559	missense	probably damaging	1.00
R7356:Plg	UTSW	17	12410911	missense	probably damaging	1.00
R8902:Plg	UTSW	17	12410903	missense	probably benign	0.32
R9035:Plg	UTSW	17	12390220	nonsense	probably null
R9474:Plg	UTSW	17	12403137	missense	probably damaging	1.00
R9610:Plg	UTSW	17	12390326	missense	probably benign	0.12
R9611:Plg	UTSW	17	12390326	missense	probably benign	0.12
Z1176:Plg	UTSW	17	12414185	missense	probably benign	0.02
Z1177:Plg	UTSW	17	12403233	critical splice donor site	probably null

Posted On

2014-05-07