Incidental Mutation 'R3757:Serpinc1'
ID 271467
Institutional Source Beutler Lab
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 # R3757 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 160806153-160830113 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160829935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 434 (T434A)
Ref Sequence ENSEMBL: ENSMUSP00000068971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064725] [ENSMUST00000162226] [ENSMUST00000194592] [ENSMUST00000195438]
AlphaFold P32261
Predicted Effect probably benign
Transcript: ENSMUST00000064725
AA Change: T434A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000068971
Gene: ENSMUSG00000026715
AA Change: T434A

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
Meta Mutation Damage Score 0.0635 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 92% (35/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T A 7: 81,986,415 (GRCm39) I9K probably benign Het
Arhgap31 T C 16: 38,457,362 (GRCm39) E82G probably damaging Het
Asap2 T A 12: 21,317,767 (GRCm39) S993T probably damaging Het
Bmpr1a A T 14: 34,156,624 (GRCm39) L134* probably null Het
Cacna1e A G 1: 154,509,442 (GRCm39) V271A probably damaging Het
Cacna2d4 A G 6: 119,218,124 (GRCm39) E153G probably damaging Het
Cage1 A C 13: 38,209,705 (GRCm39) F91V possibly damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Col9a1 T C 1: 24,271,312 (GRCm39) probably null Het
Cts6 A T 13: 61,349,972 (GRCm39) Y36* probably null Het
Dennd3 C G 15: 73,394,083 (GRCm39) A36G probably benign Het
Dmxl1 G A 18: 50,068,384 (GRCm39) G2719D probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Ep300 T A 15: 81,532,790 (GRCm39) V1676E unknown Het
Ercc4 C T 16: 12,962,360 (GRCm39) T668M probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm10985 GCTCTCTCTCTCTCTCTCTCTCTCTCTCT GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 3: 53,752,645 (GRCm39) probably null Het
H1f4 T A 13: 23,806,240 (GRCm39) K81* probably null Het
Havcr1 G T 11: 46,643,407 (GRCm39) R109L probably damaging Het
Krtap4-9 A G 11: 99,676,444 (GRCm39) probably benign Het
Layn T C 9: 50,970,856 (GRCm39) E229G probably benign Het
Lpcat3 T A 6: 124,676,955 (GRCm39) probably null Het
Lrrn1 T A 6: 107,546,169 (GRCm39) F656I possibly damaging Het
Lypd1 A G 1: 125,838,121 (GRCm39) probably benign Het
Or4k41 T A 2: 111,279,602 (GRCm39) V39E possibly damaging Het
Or5v1b T A 17: 37,841,246 (GRCm39) I126N probably damaging Het
Or6c207 T C 10: 129,104,934 (GRCm39) D86G probably damaging Het
Ptprt A T 2: 161,653,950 (GRCm39) L560Q probably damaging Het
Rbm11 T C 16: 75,393,469 (GRCm39) V55A probably damaging Het
Scn11a C T 9: 119,632,569 (GRCm39) V434I probably benign Het
Setd2 T C 9: 110,402,753 (GRCm39) I1798T probably damaging Het
Sfswap A G 5: 129,590,298 (GRCm39) Y265C probably damaging Het
Slc9a8 C A 2: 167,266,050 (GRCm39) T9K probably benign Het
Synpo T C 18: 60,736,062 (GRCm39) D389G probably damaging Het
Vmn1r181 C T 7: 23,683,909 (GRCm39) L125F possibly damaging Het
Wdfy4 A C 14: 32,745,331 (GRCm39) H2296Q 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
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
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
Predicted Primers PCR Primer
(F):5'- TAGAAACCAGCAGTGTGAGC -3'
(R):5'- GGTGTAGCATCTGTACTCCAG -3'

Sequencing Primer
(F):5'- CAGTGTGAGCGCTGGGTC -3'
(R):5'- CTCGTCTTCAAGTGGAAAAGTCC -3'
Posted On 2015-03-18