Incidental Mutation 'IGL02272:Serpinc1'
ID 287175
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 # IGL02272
Quality Score
Status
Chromosome 1
Chromosomal Location 160806153-160830113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 160827562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 387 (I387S)
Ref Sequence ENSEMBL: ENSMUSP00000068971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064725] [ENSMUST00000162226] [ENSMUST00000194592] [ENSMUST00000195438]
AlphaFold P32261
Predicted Effect probably damaging
Transcript: ENSMUST00000064725
AA Change: I387S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068971
Gene: ENSMUSG00000026715
AA Change: I387S

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
Predicted Effect probably benign
Transcript: ENSMUST00000194592
SMART Domains Protein: ENSMUSP00000141556
Gene: ENSMUSG00000026715

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
SERPIN 93 286 8.3e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195438
SMART Domains Protein: ENSMUSP00000141834
Gene: ENSMUSG00000026715

DomainStartEndE-ValueType
Pfam:Serpin 1 97 1.1e-14 PFAM
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,757,021 (GRCm39) C759* probably null Het
Adgrg6 T A 10: 14,344,573 (GRCm39) M127L probably damaging Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Ccdc191 T A 16: 43,780,385 (GRCm39) V731D possibly damaging Het
Cdh3 G T 8: 107,274,468 (GRCm39) probably null Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin1 A G 12: 16,597,601 (GRCm39) V681A probably damaging Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Myo9a T A 9: 59,791,883 (GRCm39) probably benign Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Nr2e1 T G 10: 42,443,975 (GRCm39) N249T probably damaging Het
Pex11g A G 8: 3,515,898 (GRCm39) V45A probably benign Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Sardh T G 2: 27,115,003 (GRCm39) D550A probably benign Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Usp50 G A 2: 126,611,864 (GRCm39) T232I probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G probably benign 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
IGL02574:Serpinc1 APN 1 160,830,029 (GRCm39) missense probably benign 0.00
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