Incidental Mutation 'IGL02574:Serpinc1'
ID299138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinc1
Ensembl Gene ENSMUSG00000026715
Gene Nameserine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1
SynonymsAt3, At-3, antithrombin, ATIII
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02574
Quality Score
Status
Chromosome1
Chromosomal Location160978585-161005863 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 161002459 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 465 (N465S)
Ref Sequence ENSEMBL: ENSMUSP00000068971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064725] [ENSMUST00000162226]
Predicted Effect probably benign
Transcript: ENSMUST00000064725
AA Change: N465S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000068971
Gene: ENSMUSG00000026715
AA Change: N465S

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
SERPIN 93 462 5.55e-173 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162226
SMART Domains Protein: ENSMUSP00000125253
Gene: ENSMUSG00000043467

DomainStartEndE-ValueType
BTB 34 128 1.39e-23 SMART
ZnF_C2H2 375 397 5.99e-4 SMART
ZnF_C2H2 403 425 6.88e-4 SMART
ZnF_C2H2 431 454 1.16e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194570
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 plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit extensive subcutaneous hemorrhage, fibrin deposits in the myocardium and liver, and lethality by embryonic day 16.5. Heterozygotes challenged with lipopolysaccharide show increased fibrin deposits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 T C 9: 43,005,623 D409G probably damaging Het
AW551984 A C 9: 39,589,086 L792R possibly damaging Het
Cep192 A G 18: 67,841,279 E1151G probably damaging Het
Cfap44 C A 16: 44,481,383 P1828Q probably damaging Het
Chid1 A T 7: 141,496,690 probably benign Het
Col6a6 C A 9: 105,782,191 L518F probably damaging Het
Ctsz C T 2: 174,429,098 R201K probably benign Het
D430042O09Rik A G 7: 125,829,753 T516A possibly damaging Het
Diras1 T C 10: 81,022,285 Y44C probably damaging Het
Grip1 T C 10: 119,942,913 V159A probably damaging Het
Hpd T C 5: 123,179,357 probably benign Het
Jag2 T C 12: 112,915,511 N463S probably benign Het
Kmt2a C A 9: 44,830,513 probably benign Het
Myo5a A G 9: 75,211,147 N1619D probably benign Het
Ncbp1 A G 4: 46,168,449 probably null Het
Olfr103 G T 17: 37,336,524 A236E probably damaging Het
Olfr133 C T 17: 38,149,389 T267I possibly damaging Het
Pacsin2 G T 15: 83,388,663 A154E possibly damaging Het
Plcd4 A T 1: 74,564,380 I647F probably damaging Het
Prdm10 C T 9: 31,357,293 A846V probably damaging Het
Ptgs2 G T 1: 150,102,775 G213* probably null Het
Rcan3 C T 4: 135,425,395 S5N probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc40a1 T C 1: 45,912,374 I208V possibly damaging Het
Vcl C T 14: 20,929,575 Q19* probably null Het
Other mutations in Serpinc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Serpinc1 APN 1 160993400 missense probably damaging 1.00
IGL01923:Serpinc1 APN 1 160989546 missense probably damaging 0.98
IGL01987:Serpinc1 APN 1 160993407 missense probably damaging 1.00
IGL02272:Serpinc1 APN 1 160999992 missense probably damaging 1.00
IGL02730:Serpinc1 APN 1 161000028 missense probably damaging 0.97
IGL02861:Serpinc1 APN 1 160999991 missense probably damaging 0.99
IGL03377:Serpinc1 APN 1 160993442 missense probably damaging 1.00
R0277:Serpinc1 UTSW 1 160989702 start codon destroyed probably null 1.00
R1294:Serpinc1 UTSW 1 160989641 missense probably damaging 0.98
R1368:Serpinc1 UTSW 1 160993524 missense probably damaging 1.00
R1433:Serpinc1 UTSW 1 160993404 missense probably damaging 0.97
R1436:Serpinc1 UTSW 1 160993411 missense possibly damaging 0.63
R1480:Serpinc1 UTSW 1 160995319 missense probably benign 0.00
R1703:Serpinc1 UTSW 1 160993517 missense probably damaging 1.00
R1775:Serpinc1 UTSW 1 160989647 missense probably benign 0.07
R2007:Serpinc1 UTSW 1 160993540 missense probably benign 0.05
R3757:Serpinc1 UTSW 1 161002365 missense probably benign 0.00
R5134:Serpinc1 UTSW 1 160997570 unclassified probably null
R5252:Serpinc1 UTSW 1 160989621 missense probably damaging 1.00
R7033:Serpinc1 UTSW 1 160997521 missense probably benign 0.04
R7254:Serpinc1 UTSW 1 160993618 missense probably benign 0.01
R7262:Serpinc1 UTSW 1 160989659 missense probably damaging 1.00
R7429:Serpinc1 UTSW 1 160995441 missense probably benign 0.03
R8169:Serpinc1 UTSW 1 160993401 missense probably damaging 1.00
Z1176:Serpinc1 UTSW 1 160989456 missense probably damaging 1.00
Posted On2015-04-16