Incidental Mutation 'IGL01019:Serpinf2'
ID 53883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinf2
Ensembl Gene ENSMUSG00000038224
Gene Name serine (or cysteine) peptidase inhibitor, clade F, member 2
Synonyms Pli, alpha 2 antiplasmin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL01019
Quality Score
Status
Chromosome 11
Chromosomal Location 75322562-75330327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75327333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 198 (E198V)
Ref Sequence ENSEMBL: ENSMUSP00000114450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043696] [ENSMUST00000108437] [ENSMUST00000128330] [ENSMUST00000142094] [ENSMUST00000173320]
AlphaFold Q61247
Predicted Effect possibly damaging
Transcript: ENSMUST00000043696
AA Change: E198V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048704
Gene: ENSMUSG00000038224
AA Change: E198V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 91 436 1.5e-137 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108437
AA Change: E198V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104076
Gene: ENSMUSG00000038224
AA Change: E198V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 91 436 1.5e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117392
SMART Domains Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374

DomainStartEndE-ValueType
Beach 347 589 2.52e-98 SMART
low complexity region 673 704 N/A INTRINSIC
low complexity region 848 874 N/A INTRINSIC
low complexity region 1141 1165 N/A INTRINSIC
low complexity region 1196 1210 N/A INTRINSIC
low complexity region 1566 1587 N/A INTRINSIC
WD40 1630 1669 3.19e-7 SMART
WD40 1679 1716 1.18e2 SMART
WD40 1719 1761 7.36e1 SMART
WD40 1764 1807 3.3e1 SMART
WD40 1810 1848 3.58e-1 SMART
WD40 1893 1934 4.26e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000128330
AA Change: E198V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114450
Gene: ENSMUSG00000038224
AA Change: E198V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 91 280 1.07e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132442
SMART Domains Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374

DomainStartEndE-ValueType
low complexity region 1 7 N/A INTRINSIC
low complexity region 23 47 N/A INTRINSIC
low complexity region 78 92 N/A INTRINSIC
low complexity region 448 469 N/A INTRINSIC
WD40 512 551 3.19e-7 SMART
WD40 561 598 1.18e2 SMART
WD40 601 670 3.55e1 SMART
Blast:WD40 673 710 3e-14 BLAST
WD40 715 756 4.26e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142094
SMART Domains Protein: ENSMUSP00000120812
Gene: ENSMUSG00000038224

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173320
SMART Domains Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374

DomainStartEndE-ValueType
Beach 347 589 2.52e-98 SMART
low complexity region 673 704 N/A INTRINSIC
low complexity region 848 874 N/A INTRINSIC
low complexity region 1141 1165 N/A INTRINSIC
low complexity region 1196 1210 N/A INTRINSIC
low complexity region 1566 1587 N/A INTRINSIC
WD40 1630 1669 3.19e-7 SMART
WD40 1679 1716 1.18e2 SMART
WD40 1719 1761 7.36e1 SMART
WD40 1764 1807 3.3e1 SMART
WD40 1810 1848 3.58e-1 SMART
WD40 1893 1934 4.26e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have an essentially normal phenotype. Spontaneous lysis of blood clots occurs more readily but bleeding times are unaffected. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging Het
Other mutations in Serpinf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Serpinf2 APN 11 75,328,871 (GRCm39) missense probably benign
IGL01382:Serpinf2 APN 11 75,328,863 (GRCm39) unclassified probably benign
R0122:Serpinf2 UTSW 11 75,327,372 (GRCm39) missense probably damaging 1.00
R0135:Serpinf2 UTSW 11 75,327,219 (GRCm39) missense probably damaging 1.00
R1864:Serpinf2 UTSW 11 75,328,309 (GRCm39) missense possibly damaging 0.74
R2202:Serpinf2 UTSW 11 75,327,588 (GRCm39) missense probably benign 0.07
R3082:Serpinf2 UTSW 11 75,328,354 (GRCm39) missense probably benign 0.19
R5117:Serpinf2 UTSW 11 75,323,326 (GRCm39) missense probably benign 0.28
R5487:Serpinf2 UTSW 11 75,324,031 (GRCm39) missense probably damaging 0.99
R5681:Serpinf2 UTSW 11 75,326,765 (GRCm39) missense probably damaging 0.99
R5764:Serpinf2 UTSW 11 75,328,230 (GRCm39) missense possibly damaging 0.94
R5868:Serpinf2 UTSW 11 75,324,065 (GRCm39) missense probably benign 0.00
R6349:Serpinf2 UTSW 11 75,323,257 (GRCm39) missense probably damaging 1.00
R6364:Serpinf2 UTSW 11 75,327,315 (GRCm39) missense probably damaging 1.00
R6488:Serpinf2 UTSW 11 75,328,329 (GRCm39) missense probably benign
R6701:Serpinf2 UTSW 11 75,323,269 (GRCm39) missense probably damaging 0.97
R7034:Serpinf2 UTSW 11 75,329,244 (GRCm39) unclassified probably benign
R7036:Serpinf2 UTSW 11 75,329,244 (GRCm39) unclassified probably benign
R9147:Serpinf2 UTSW 11 75,323,418 (GRCm39) missense probably damaging 1.00
R9148:Serpinf2 UTSW 11 75,323,418 (GRCm39) missense probably damaging 1.00
R9487:Serpinf2 UTSW 11 75,323,494 (GRCm39) missense probably damaging 0.97
R9509:Serpinf2 UTSW 11 75,328,895 (GRCm39) missense probably benign 0.01
R9578:Serpinf2 UTSW 11 75,327,615 (GRCm39) missense probably benign 0.07
YA93:Serpinf2 UTSW 11 75,323,510 (GRCm39) missense probably benign 0.00
Posted On 2013-06-28