Incidental Mutation 'IGL01128:Plg'
ID53102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plg
Ensembl Gene ENSMUSG00000059481
Gene Nameplasminogen
SynonymsPg
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.264) question?
Stock #IGL01128
Quality Score
Status
Chromosome17
Chromosomal Location12378609-12419384 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 12396699 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000014578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014578]
Predicted Effect probably benign
Transcript: ENSMUST00000014578
SMART Domains Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481

DomainStartEndE-ValueType
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Ahi1 A G 10: 21,074,433 T128A probably benign Het
Bves T A 10: 45,353,848 F249L probably damaging Het
Capns1 T C 7: 30,190,133 I214V probably benign Het
Cgnl1 G T 9: 71,724,561 Q503K possibly damaging Het
Ep300 A G 15: 81,630,006 probably benign Het
Fam117b T A 1: 59,969,018 F337Y probably damaging Het
Fam178b A T 1: 36,644,354 V95E probably damaging Het
Gak T A 5: 108,592,370 M560L probably damaging Het
Gna11 C A 10: 81,530,884 A331S probably damaging Het
Gtf3c3 A C 1: 54,428,876 F201V possibly damaging Het
Kat6b G A 14: 21,660,860 R734H probably benign Het
Lag3 T C 6: 124,909,417 D191G probably damaging Het
Mttp T A 3: 138,133,997 probably null Het
Nlgn3 A T X: 101,320,092 T790S probably benign Het
Olfr1487 G A 19: 13,619,746 E195K probably damaging Het
Olfr743 A G 14: 50,533,949 D179G probably damaging Het
Pkd2l2 T A 18: 34,417,015 Y238N probably damaging Het
Ptprm A T 17: 67,042,101 C376S probably damaging Het
Rexo1 T C 10: 80,549,739 D495G probably benign Het
Rims1 A T 1: 22,534,175 V315D probably damaging Het
Ros1 G A 10: 52,142,328 Q745* probably null Het
Satb1 A G 17: 51,805,289 V99A probably damaging Het
Sema3e C T 5: 14,232,115 P422S probably damaging Het
Stkld1 G T 2: 26,951,471 W476L probably benign Het
Syna T C 5: 134,559,480 D205G probably damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Togaram1 A G 12: 64,980,876 T880A probably benign Het
Uckl1 T C 2: 181,570,337 E363G probably damaging Het
Yeats2 T A 16: 20,161,968 probably benign Het
Other mutations in Plg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Plg APN 17 12411493 missense probably damaging 1.00
IGL01522:Plg APN 17 12404069 missense probably damaging 1.00
IGL01981:Plg APN 17 12403047 splice site probably benign
IGL03338:Plg APN 17 12419072 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
Z1176:Plg UTSW 17 12414185 missense probably benign 0.02
Z1177:Plg UTSW 17 12403233 critical splice donor site probably null
Posted On2013-06-21