Incidental Mutation 'IGL01987:Serpinc1'
ID 181936
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 # IGL01987
Quality Score
Status
Chromosome 1
Chromosomal Location 160806153-160830113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 160820977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 141 (F141L)
Ref Sequence ENSEMBL: ENSMUSP00000068971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064725] [ENSMUST00000191936] [ENSMUST00000194592] [ENSMUST00000195438] [ENSMUST00000195760]
AlphaFold P32261
Predicted Effect probably damaging
Transcript: ENSMUST00000064725
AA Change: F141L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068971
Gene: ENSMUSG00000026715
AA Change: F141L

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
SERPIN 93 462 5.55e-173 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191936
AA Change: F20L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142122
Gene: ENSMUSG00000026715
AA Change: F20L

DomainStartEndE-ValueType
Pfam:Serpin 1 91 2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194455
Predicted Effect probably damaging
Transcript: ENSMUST00000194592
AA Change: F141L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141556
Gene: ENSMUSG00000026715
AA Change: F141L

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
SERPIN 93 286 8.3e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194777
Predicted Effect probably damaging
Transcript: ENSMUST00000195438
AA Change: F20L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141834
Gene: ENSMUSG00000026715
AA Change: F20L

DomainStartEndE-ValueType
Pfam:Serpin 1 97 1.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195760
SMART Domains Protein: ENSMUSP00000141864
Gene: ENSMUSG00000026715

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Blast:SERPIN 32 107 5e-43 BLAST
PDB:2GD4|C 32 107 3e-43 PDB
SCOP:d1e05i_ 35 107 4e-26 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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S probably damaging 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
IGL02272:Serpinc1 APN 1 160,827,562 (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 2014-05-07