Incidental Mutation 'IGL02574:Serpinc1'
ID 299138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinc1
Ensembl Gene ENSMUSG00000026715
Gene Name serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1
Synonyms At3, At-3, ATIII, antithrombin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02574
Quality Score
Status
Chromosome 1
Chromosomal Location 160806153-160830113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160830029 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P32261
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: 42,916,919 (GRCm39) D409G probably damaging Het
AW551984 A C 9: 39,500,382 (GRCm39) L792R possibly damaging Het
Cep192 A G 18: 67,974,350 (GRCm39) E1151G probably damaging Het
Cfap44 C A 16: 44,301,746 (GRCm39) P1828Q probably damaging Het
Chid1 A T 7: 141,076,603 (GRCm39) probably benign Het
Col6a6 C A 9: 105,659,390 (GRCm39) L518F probably damaging Het
Ctsz C T 2: 174,270,891 (GRCm39) R201K probably benign Het
Diras1 T C 10: 80,858,119 (GRCm39) Y44C probably damaging Het
Grip1 T C 10: 119,778,818 (GRCm39) V159A probably damaging Het
Hpd T C 5: 123,317,420 (GRCm39) probably benign Het
Jag2 T C 12: 112,879,131 (GRCm39) N463S probably benign Het
Katnip A G 7: 125,428,925 (GRCm39) T516A possibly damaging Het
Kmt2a C A 9: 44,741,810 (GRCm39) probably benign Het
Myo5a A G 9: 75,118,429 (GRCm39) N1619D probably benign Het
Ncbp1 A G 4: 46,168,449 (GRCm39) probably null Het
Or12d13 G T 17: 37,647,415 (GRCm39) A236E probably damaging Het
Or2n1b C T 17: 38,460,280 (GRCm39) T267I possibly damaging Het
Pacsin2 G T 15: 83,272,864 (GRCm39) A154E possibly damaging Het
Plcd4 A T 1: 74,603,539 (GRCm39) I647F probably damaging Het
Prdm10 C T 9: 31,268,589 (GRCm39) A846V probably damaging Het
Ptgs2 G T 1: 149,978,526 (GRCm39) G213* probably null Het
Rcan3 C T 4: 135,152,706 (GRCm39) S5N probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc40a1 T C 1: 45,951,534 (GRCm39) I208V possibly damaging Het
Vcl C T 14: 20,979,643 (GRCm39) Q19* probably null Het
Other mutations in Serpinc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Serpinc1 APN 1 160,820,970 (GRCm39) missense probably damaging 1.00
IGL01923:Serpinc1 APN 1 160,817,116 (GRCm39) missense probably damaging 0.98
IGL01987:Serpinc1 APN 1 160,820,977 (GRCm39) missense probably damaging 1.00
IGL02272:Serpinc1 APN 1 160,827,562 (GRCm39) missense probably damaging 1.00
IGL02730:Serpinc1 APN 1 160,827,598 (GRCm39) missense probably damaging 0.97
IGL02861:Serpinc1 APN 1 160,827,561 (GRCm39) missense probably damaging 0.99
IGL03377:Serpinc1 APN 1 160,821,012 (GRCm39) missense probably damaging 1.00
R0277:Serpinc1 UTSW 1 160,817,272 (GRCm39) start codon destroyed probably null 1.00
R1294:Serpinc1 UTSW 1 160,817,211 (GRCm39) missense probably damaging 0.98
R1368:Serpinc1 UTSW 1 160,821,094 (GRCm39) missense probably damaging 1.00
R1433:Serpinc1 UTSW 1 160,820,974 (GRCm39) missense probably damaging 0.97
R1436:Serpinc1 UTSW 1 160,820,981 (GRCm39) missense possibly damaging 0.63
R1480:Serpinc1 UTSW 1 160,822,889 (GRCm39) missense probably benign 0.00
R1703:Serpinc1 UTSW 1 160,821,087 (GRCm39) missense probably damaging 1.00
R1775:Serpinc1 UTSW 1 160,817,217 (GRCm39) missense probably benign 0.07
R2007:Serpinc1 UTSW 1 160,821,110 (GRCm39) missense probably benign 0.05
R3757:Serpinc1 UTSW 1 160,829,935 (GRCm39) missense probably benign 0.00
R5134:Serpinc1 UTSW 1 160,825,140 (GRCm39) splice site probably null
R5252:Serpinc1 UTSW 1 160,817,191 (GRCm39) missense probably damaging 1.00
R7033:Serpinc1 UTSW 1 160,825,091 (GRCm39) missense probably benign 0.04
R7254:Serpinc1 UTSW 1 160,821,188 (GRCm39) missense probably benign 0.01
R7262:Serpinc1 UTSW 1 160,817,229 (GRCm39) missense probably damaging 1.00
R7429:Serpinc1 UTSW 1 160,823,011 (GRCm39) missense probably benign 0.03
R8169:Serpinc1 UTSW 1 160,820,971 (GRCm39) missense probably damaging 1.00
R8490:Serpinc1 UTSW 1 160,817,028 (GRCm39) missense probably damaging 1.00
R9502:Serpinc1 UTSW 1 160,821,179 (GRCm39) nonsense probably null
R9627:Serpinc1 UTSW 1 160,821,101 (GRCm39) nonsense probably null
Z1176:Serpinc1 UTSW 1 160,817,026 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16