Incidental Mutation 'IGL03377:Serpinc1'
ID 420516
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 # IGL03377
Quality Score
Status
Chromosome 1
Chromosomal Location 160806153-160830113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 160821012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 32 (H32L)
Ref Sequence ENSEMBL: ENSMUSP00000141834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064725] [ENSMUST00000191936] [ENSMUST00000194592] [ENSMUST00000195438] [ENSMUST00000195760]
AlphaFold P32261
Predicted Effect probably damaging
Transcript: ENSMUST00000064725
AA Change: H153L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068971
Gene: ENSMUSG00000026715
AA Change: H153L

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
SERPIN 93 462 5.55e-173 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191936
AA Change: H32L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142122
Gene: ENSMUSG00000026715
AA Change: H32L

DomainStartEndE-ValueType
Pfam:Serpin 1 91 2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194455
Predicted Effect probably damaging
Transcript: ENSMUST00000194592
AA Change: H153L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141556
Gene: ENSMUSG00000026715
AA Change: H153L

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: H32L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141834
Gene: ENSMUSG00000026715
AA Change: H32L

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,096,256 (GRCm39) I489L probably benign Het
Acox3 T C 5: 35,751,676 (GRCm39) L237P probably damaging Het
Ahi1 T G 10: 20,893,903 (GRCm39) I878S possibly damaging Het
Alox15 T A 11: 70,240,488 (GRCm39) Y231F probably damaging Het
Asxl1 A T 2: 153,238,700 (GRCm39) K342M probably damaging Het
Atl2 T C 17: 80,172,519 (GRCm39) I150M probably damaging Het
Bag6 T C 17: 35,363,958 (GRCm39) Y822H probably damaging Het
Ccdc171 T C 4: 83,581,754 (GRCm39) Y628H probably damaging Het
Ceacam5 T A 7: 17,449,056 (GRCm39) Y141N probably benign Het
Ces1a A G 8: 93,766,116 (GRCm39) V166A probably damaging Het
Chrdl2 G A 7: 99,671,259 (GRCm39) A126T probably benign Het
Cyp2d26 T C 15: 82,674,755 (GRCm39) E409G possibly damaging Het
Dicer1 T C 12: 104,678,456 (GRCm39) I621V probably damaging Het
Enpp1 T A 10: 24,536,181 (GRCm39) probably null Het
Epha2 T A 4: 141,049,723 (GRCm39) S776R probably benign Het
Fam107b A T 2: 3,779,481 (GRCm39) E52V probably damaging Het
Fam169a A G 13: 97,228,381 (GRCm39) N18S probably benign Het
Fbxw21 A T 9: 108,968,597 (GRCm39) F460I probably benign Het
Fgfr2 A T 7: 129,800,247 (GRCm39) I329N probably damaging Het
Fndc7 T C 3: 108,783,848 (GRCm39) S254G probably benign Het
Glis1 T G 4: 107,489,478 (GRCm39) H688Q probably damaging Het
Grip1 A G 10: 119,890,937 (GRCm39) E898G probably damaging Het
Gtf2a1l T A 17: 89,019,021 (GRCm39) D368E probably benign Het
Gucy1a1 T A 3: 82,013,322 (GRCm39) H440L probably damaging Het
H2-M10.5 A T 17: 37,084,377 (GRCm39) D113V probably benign Het
Hook2 G T 8: 85,727,964 (GRCm39) E554* probably null Het
Itpr2 T A 6: 146,231,256 (GRCm39) T1135S probably benign Het
Itpr2 A C 6: 146,231,213 (GRCm39) V1182G probably damaging Het
Kdm4c T C 4: 74,189,492 (GRCm39) I69T possibly damaging Het
Klhl31 A T 9: 77,558,345 (GRCm39) K354* probably null Het
Krt222 T A 11: 99,127,339 (GRCm39) K159* probably null Het
Loxhd1 A G 18: 77,529,369 (GRCm39) E2004G possibly damaging Het
Man2a2 A T 7: 80,008,800 (GRCm39) probably null Het
Med24 A G 11: 98,595,962 (GRCm39) F963L possibly damaging Het
Mphosph8 A G 14: 56,930,943 (GRCm39) E744G probably damaging Het
Mypn A G 10: 63,028,644 (GRCm39) S140P probably benign Het
Npc1 A G 18: 12,344,878 (GRCm39) F331L probably benign Het
Obscn C A 11: 58,890,699 (GRCm39) G1798W probably damaging Het
Or5d18 A T 2: 87,864,589 (GRCm39) V298D probably damaging Het
Patj C T 4: 98,353,341 (GRCm39) P110L probably damaging Het
Pkhd1l1 T G 15: 44,347,747 (GRCm39) probably null Het
Prdm5 A G 6: 65,836,457 (GRCm39) H256R possibly damaging Het
Ralgps1 A G 2: 33,062,473 (GRCm39) Y267H probably damaging Het
Rfpl4 T G 7: 5,113,464 (GRCm39) Y239S probably damaging Het
Rnpepl1 A T 1: 92,846,953 (GRCm39) M592L probably benign Het
Skint5 T A 4: 113,620,735 (GRCm39) T660S unknown Het
Slc26a2 T C 18: 61,331,658 (GRCm39) N591S probably damaging Het
Slc9b2 C T 3: 135,042,119 (GRCm39) A466V probably damaging Het
Slco1a5 T A 6: 142,180,492 (GRCm39) T637S probably benign Het
Snx25 A G 8: 46,533,338 (GRCm39) probably benign Het
Szt2 T C 4: 118,259,594 (GRCm39) probably benign Het
Vmn1r183 A G 7: 23,754,817 (GRCm39) M207V possibly damaging Het
Wdcp T G 12: 4,900,691 (GRCm39) Y182* probably null Het
Zc3h13 A G 14: 75,531,416 (GRCm39) T105A possibly damaging Het
Zfp933 T C 4: 147,913,168 (GRCm39) K30R possibly 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
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
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
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 2016-08-02